id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
fac:33100561 | Cardiac amyloidosis possibly secondary to Agent Orange exposure. | [
"Much research has focused on the association between the toxic metabolites of the tactical herbicide Agent Orange and several blood cancers, including systemic amyloid light-chain (AL) amyloidosis. Here we present a rare case of heart failure secondary to cardiac AL amyloidosis as a consequence of Agent Orange exp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Much research has focused on the association between the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n toxic metabolites of the tactical herbicide Agent Or... | [
"blood cancers",
"systemic amyloid light-chain (AL) amyloidosis",
"cardiac AL amyloidosis",
"systemic AL amyloidosis"
] | null | [
"toxic metabolites of the tactical herbicide Agent Orange",
"heart failure",
"gastrointestinal bleed",
"decompensation of congestive heart failure",
"restrictive cardiomyopathy",
"significant exposure to Agent Orange during deployment"
] | [
"Agent Orange exposure",
"transferred to the intensive care unit",
"Veterans Affairs Medical Center"
] | null | [
"free lambda to free kappa light chain ratio >3:1"
] | null |
fac:33087007 | A case of unilateral shoulder joint hydrarthrosis with wild-type amyloidogenic transthyretin amyloidosis. | [
"Wild-type amyloidogenic transthyretin (ATTR) amyloidosis, known as systemic senile amyloidosis (SSA), is an age-related nonhereditary amyloidosis, which is known to cause cardiomyopathy and carpal tunnel syndrome (CTS). Herein, we report a case of unilateral hydrarthrosis with arthritis of the right shoulder joint... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Wild-type amyloidogenic transthyretin (ATTR) amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Wild-type amyloidogenic transthyretin (ATTR) amyloidosis",
"systemic senile amyloidosis (SSA)",
"nonhereditary amyloidosis",
"carpal tunnel syndrome (CTS)",
"non-specific arthritis with amyloidosis",
"senile amyloidosis"
] | [
"wild-type ATTR"
] | [
"cardiomyopathy",
"unilateral hydrarthrosis with arthritis of the right shoulder joint",
"joint pain",
"overuse of her right upper arm",
"synovitis",
"hydrarthrosis"
] | [
"repeated arthrocentesis",
"arthroscopic synovectomy of the right shoulder joint"
] | [
"Japanese",
"housewife"
] | null | [
"Despite treatment with non-steroidal anti-inflammatory drugs (NSAIDs)",
"symptoms did not improve"
] |
fac:33012122 | Isolated atrial amyloidosis suspected by electrophysiological voltage mapping and diagnosed by 99m Tc-DPD scintigraphy. | [
"We present not-yet-seen multimodal images of a 55-year-old female patient with isolated atrial amyloidosis (IAA) who clinically suffered from multiple atrial arrhythmias and heart failure symptoms with preserved left ventricular ejection fraction. We aim to show structural and functional abnormalities detected by ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present not-yet-seen multimodal images of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 55-year-old\n <span style=\"font-size: 0.8em; font-weight: ... | [
"isolated atrial amyloidosis (IAA)",
"IAA",
"IAA"
] | null | [
"multiple atrial arrhythmias",
"heart failure symptoms",
"preserved left ventricular ejection fraction",
"structural and functional abnormalities",
"diffuse left atrial low-voltage areas (bipolar < 0.5 mV)",
"moderately diseased right atrium suspected of infiltrative cardiomyopathy",
"treat a left atria... | [
"Catheter ablation"
] | null | null | [
"Neither an uptake in the ventricular myocardium nor an extra-cardiac uptake of DPD was seen",
"Genetic testing for transthyretin amyloidosis mutations in this patient was negative",
"peripheral neuropathy was ruled out by electromyogram analysis"
] |
fac:32999234 | Late-onset Hereditary ATTR Amyloidosis with a Novel p.P63S (P43S) Transthyretin Variant. | [
"The patient was an 82-year-old Japanese man with no family history suggestive of amyloidosis. He developed bilateral leg edema and shortness of breath and was referred to our hospital. An electrocardiogram showed atrial fibrillation with right bundle branch block. Echocardiography showed concentric LV hypertrophy.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The patient was an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 82-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"elderly-onset cardiac-dominant ATTRv"
] | [
"heterozygous c.187C>T missense variant resulting in p.P63S (P43S)",
"variant only modestly altered the structure and function of the TTR protein",
"p.P63S variant"
] | [
"bilateral leg edema",
"shortness of breath",
"atrial fibrillation with right bundle branch block",
"concentric LV hypertrophy"
] | null | [
"Japanese"
] | null | [
"no family history suggestive of amyloidosis"
] |
fac:32893242 | [Two elderly cases of transthyretin amyloid polyneuropathy without a family history]. | [
"We report two cases of transthyretin familial amyloid polyneuropathy (ATTR-FAP) from non-endemic areas. Both cases showed chronic progressive distal limb numbness and weakness. Due to nonspecific symptoms, they were not diagnosed for a long period of time. A nerve conduction study revealed axonal neuropathy in the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n transthyretin familial amyloid polyneuropathy (ATTR-FAP)\n <span style=\"font-size:... | [
"transthyretin familial amyloid polyneuropathy (ATTR-FAP)",
"ATTR-FAP",
"ATTR-FAP"
] | [
"mutation in the transthyretin gene"
] | [
"chronic progressive distal limb numbness",
"weakness",
"axonal neuropathy in the lower limbs",
"carpal tunnel syndrome",
"thickness of the left ventricle",
"chronic progressive neuropathy"
] | null | null | null | [
"nonspecific symptoms",
"not diagnosed for a long period of time"
] |
fac:32850258 | Refractory Heart Failure of Unknown Etiology May Be Cardiac Amyloid If Preceded by Hereditary Neurological Symptoms. | [
"Transthyretin cardiac amyloidosis results from the deposition of transthyretin amyloid fibrils in the myocardium. This happens because of the misfolding of genetically normal (wild type - ATTR) or mutant (hereditary ATTR) transthyretin. The clinical presentation of hereditary ATTR cardiac amyloidosis is dependent ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Transthyretin cardiac amyloidosis",
"hereditary ATTR cardiac amyloidosis",
"cardiomyopathy",
"cardiac amyloidosis"
] | [
"genetically normal (wild type - ATTR) or mutant (hereditary ATTR) transthyretin",
"amino acid substitution",
"V122I gene mutation",
"mutations are transmitted in an autosomal dominant manner",
"variable penetrance"
] | [
"heart failure (HF)",
"several years of vague neurological symptoms"
] | null | [
"African descent"
] | null | [
"no clear explanation"
] |
fac:32833725 | Wild-type Transthyretin Amyloid Myopathy With an Inclusion Body Myositis Phenotype. | [
"Senile systemic amyloidosis (SSA), or wild-type transthyretin (wtATTR) amyloidosis, is associated most commonly with cardiomyopathy and carpal tunnel syndrome. SSA-associated skeletal myopathy is rare. We describe the case of a patient with SSA who exhibited asymmetric quadriceps and finger flexor weakness, a phen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Senile systemic amyloidosis (SSA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Senile systemic amyloidosis (SSA)",
"wild-type transthyretin (wtATTR) amyloidosis",
"carpal tunnel syndrome",
"SSA-associated skeletal myopathy",
"SSA",
"inclusion body myositis"
] | null | [
"cardiomyopathy",
"asymmetric quadriceps and finger flexor weakness"
] | null | null | null | null |
fac:32602686 | Cardiorenal Amyloidosis. | [
"Amyloidosis is a conglomeration of diseases due to production and deposition of amyloid, a proteinaceous substance, into organs, tissues, nerves and other places in the body affecting their normal function. This case report is of a 65 year old gentleman, resident of Bihar admitted with a short history of two month... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidosis",
"dilated cardiomyopathy",
"amyloidosis"
] | null | [
"short history of two months",
"swelling in both lower limbs",
"heaviness in legs",
"shortness of breath",
"dizziness",
"fatigue",
"passage of frothy urine for two months",
"low voltage ECG",
"left ventricular hypertrophy",
"diastolic dysfunction",
"mitral regurgitation"
] | null | [
"Bihar"
] | [
"proteinuria"
] | null |
fac:32487051 | In the midst of a dangerous intersection with unclear therapeutic strategies: a challenging case of severe aortic stenosis. | [
"One out of seven patients with severe aortic stenosis (AS) undergoing transcatheter aortic valve replacement (TAVR) may be affected by transthyretin cardiac amyloidosis (ATTR-CA), mostly presenting with low-flow low-gradient AS with mildly reduced ejection fraction. The complex interaction of these two pathologies... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One out of seven patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe aortic stenosis (AS)\n <span style=\"font-size: 0.8em; font-weight: ... | [
"severe aortic stenosis (AS)",
"transthyretin cardiac amyloidosis (ATTR-CA)",
"ATTR-CA",
"symptomatic severe AS",
"ATTR-CA",
"severe AS",
"ATTR-CA amyloidosis",
"ATTR-CA -",
"ATTR-CA -"
] | null | [
"low-flow low-gradient AS",
"mildly reduced ejection fraction",
"low-flow low-gradient severe AS",
"coexisting AS and ATTR-CA",
"combined cardiomyopathy states"
] | [
"transcatheter aortic valve replacement (TAVR)",
"TAVR",
"manage",
"conservatively",
"TAVR"
] | null | null | [
"adversing TAVR indication despite symptomatic severe AS"
] |
fac:32388447 | Cardiac AA amyloidosis in a patient with obstructive hypertrophic cardiomyopathy. | [
"Cardiac amyloid A (AA) amyloidosis is rare. We present the case of a 72-year-old woman with obstructive hypertrophic cardiomyopathy (HCM) and biopsy-proven renal AA amyloidosis whose dyspnea and exercise intolerance had worsened over the previous year. Her AA amyloidosis was suspected to be secondary to chronic di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac amyloid A (AA) amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Cardiac amyloid A (AA) amyloidosis",
"obstructive hypertrophic cardiomyopathy (HCM)",
"biopsy-proven renal AA amyloidosis",
"AA amyloidosis",
"chronic diverticulitis",
"HCM",
"AA amyloidosis",
"HCM"
] | null | [
"dyspnea",
"exercise intolerance",
"worsening left ventricular outflow tract obstruction at rest",
"patchy areas of midwall late gadolinium enhancement"
] | [
"undergone hemicolectomy and sigmoidectomy",
"septal myectomy with resection of an accessory papillary muscle"
] | null | null | [
"did not reveal amyloid deposition",
"did not suggest transthyretin amyloidosis"
] |
fac:32383085 | Cases from a busy nuclear cardiology laboratory: Potential pitfalls in the interpretation of cardiac scintigraphy for ATTR cardiac amyloidosis. | [
"Cardiac scintigraphy has emerged as a key diagnostic test for transthyretin cardiac amyloidosis (ATTR-CA). However, there are potential limitations and pitfalls in the interpretation of cardiac scintigraphy for ATTR-CA that are worth noting. We present here a series of three cases which illustrate some of these im... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac scintigraphy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"transthyretin cardiac amyloidosis (ATTR-CA)",
"ATTR-CA"
] | null | null | null | null | null | null |
fac:31932463 | Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation. | [
"Hereditary transthyretin amyloidosis is a rare progressive systemic disease. We describe a physically active 46-year-old man who presented with dyspnoea on exertion. An echocardiogram showed increased left ventricular wall thickness and diastolic dysfunction, but normal systolic function. The QRS voltage on ECG wa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary transthyretin amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Hereditary transthyretin amyloidosis",
"rare progressive systemic disease",
"hypertrophic cardiomyopathy",
"hereditary transthyretin amyloidosis",
"nephropathy",
"Hereditary transthyretin amyloidosis",
"cardiomyopathy",
"amyloidosis"
] | [
"rare mutation ATTR Phe33Leu"
] | [
"dyspnoea on exertion",
"increased left ventricular wall thickness",
"diastolic dysfunction",
"neuropathy",
"severe heart failure",
"discrepancy between the left ventricular mass indicated by echocardiogram and that on ECG",
"involvement of multiple organs"
] | [
"physically active",
"tafamidis",
"has undergone heart transplantation",
"planned for liver transplant"
] | null | null | [
"normal systolic function",
"The QRS voltage on ECG was normal"
] |
fac:31845305 | Identification and typing of cardiac amyloidosis by noninvasive imaging: Two cases for two patterns. | [
"Cardiac amyloidosis is a restrictive infiltrative cardiomyopathy burdened by high mortality. The two more common forms are immunoglobulin light-chain amyloidosis and transthyretin-related amyloidosis with different prognoses and treatments. However, distinguishing between them is challenging. Appropriate utilizati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Cardiac amyloidosis",
"restrictive infiltrative cardiomyopathy",
"immunoglobulin light-chain amyloidosis",
"transthyretin-related amyloidosis",
"cardiac amyloidosis",
"cardiac amyloidosis",
"cardiac amyloid light-chain",
"transthyretin-related cardiac amyloidosis",
"cardiac amyloidosis"
] | null | [
"segmental distribution of cardiac disease"
] | null | null | null | [
"negative 99mTc-diphosphonate imaging"
] |
fac:31666456 | Sporadic Cardiac Amyloidosis by Amyloidogenic Transthyretin V122I Variant. | [
"Hereditary ATTR amyloid cardiomyopathy is defined as the intramyocardial deposition of amyloid fibrils derived from the mutation of transthyretin (TTR). A 51-year-old man was referred to our hospital for congestive heart failure. He and his family had no past history of heart diseases. Echocardiography showed rema... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary ATTR amyloid cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Hereditary ATTR amyloid cardiomyopathy",
"sporadic ATTR amyloidosis",
"ATTR amyloidosis",
"hereditary ATTR amyloidosis",
"amyloidosis"
] | [
"mutation of transthyretin (TTR)",
"heterozygous V122I TTR gene mutation"
] | [
"congestive heart failure",
"remarkable left ventricular hypertrophy",
"reduced ejection fraction"
] | [
"tafamidis",
"stabilize TTR tetramer"
] | [
"Japan"
] | null | [
"no clear family history"
] |
fac:31645392 | Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis. | [
"Transthyretin amyloidosis is a multisystemic disease caused by the aggregation of amyloid fibrils, resulting in high morbidity and mortality in the presence of cardiac involvement. Patients often experience vague symptoms that make amyloidosis difficult to diagnose. Differential diagnosis for hand pain in a patien... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Transthyretin amyloidosis",
"multisystemic disease",
"amyloidosis",
"systemic amyloidosis",
"familial amyloid cardiomyopathy",
"amyloidosis"
] | null | [
"cardiac involvement",
"vague symptoms",
"hand pain",
"severe hand cramping",
"inability to perform activities of daily living"
] | null | null | null | [
"poor responder to systemic corticosteroids, anti-inflammatories and anticonvulsant therapy"
] |
fac:31588087 | Beneficial Effect of Pimobendan for Severe Heart Failure Due to Transthyretin Cardiac Amyloidosis. | [
"Objective Transthyretin amyloidosis, particularly wild-type transthyretin amyloid cardiomyopathy (ATTRwt), has been recognized as an important cause of morbidity and mortality in the aging population. However, it is difficult to manage heart failure itself in patients with cardiac amyloidosis. Methods We herein re... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Objective \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Transthyretin amyloidosis",
"wild-type transthyretin amyloid cardiomyopathy (ATTRwt)",
"heart failure",
"cardiac amyloidosis",
"heart failure",
"ATTRwt",
"cardiac amyloidosis",
"ATTRwt",
"ATTR amyloidosis",
"NYHA class III or IV",
"heart failure",
"transthyretin cardiac amyloidosis"
] | null | [
"severe heart failure",
"refractory heart failure",
"improved his symptoms and hemodynamic status",
"improving symptoms",
"improving physical activities and the quality of life"
] | [
"pimobendan",
"pimobendan",
"discharge from the hospital",
"pimobendan",
"administration of pimobendan",
"repeated hospitalization for heart failure",
"pimobendan",
"discharged and receive outpatient medical care",
"administration of pimobendan",
"pimobendan"
] | null | [
"the brain natriuretic peptide and estimated glomerular filtration rate values improved"
] | [
"expected to be dependent on dobutamine infusion",
"without additional treatment"
] |
fac:31533773 | Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis. | [
"A wide range of rare diseases can have fiscal impacts on government finances that extend beyond expected healthcare costs. Conditions preventing people from achieving national lifetime work averages will influence lifetime taxes paid and increase the likelihood of dependence on public income support. Consequently,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A wide range of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"rare diseases",
"rare disease",
"hereditary transthyretin-mediated (hATTR) amyloidosis",
"lethal disease",
"polyneuropathy",
"cardiomyopathy",
"hATTR amyloidosis with polyneuropathy",
"hATTR",
"hATTR",
"cardiomyopathy",
"polyneuropathy",
"hATTR amyloidosis",
"rare diseases"
] | null | [
"morbidity",
"progressive disability",
"early death",
"disability"
] | [
"income support",
"health care resource use",
"pays €180,812 less in lifetime taxes",
"reduced lifetime taxes paid"
] | [
"Netherlands"
] | null | null |
fac:31369882 | Where Neurosurgery Meets Heart Failure: A Case Report of a Patient with Amyloid Transthyretin Wild Type in the Ligamentum Flavum and Cardiac Tissue with Bilateral Carpal Tunnel Syndrome. | [
"Transthyretin wild-type (ATTRwt) amyloidosis is a systemic process resulting in deposition of misfolded transthyretin protein in several different tissues throughout the body. It is known to be a cause of progressive, life-threatening cardiomyopathy and lumbar spinal stenosis and carpal tunnel syndrome.",
"Here ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin wild-type (ATTRwt) amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Transthyretin wild-type (ATTRwt) amyloidosis",
"systemic process",
"carpal tunnel syndrome",
"ATTRwt amyloidosis",
"progressive cardiac amyloidosis (CA)",
"end-stage heart failure",
"ATTRwt amyloidosis",
"systemic and cardiac amyloidosis"
] | null | [
"progressive, life-threatening cardiomyopathy",
"lumbar spinal stenosis",
"clinical manifestations of all 3 entities",
"symptoms in carpal tunnel and lumbar spine",
"heart failure",
"lumbar stenosis",
"carpal tunnel syndrome",
"heart failure",
"extracardiac symptoms",
"heart failure"
] | [
"heart transplant"
] | null | null | null |
fac:31348283 | Noninvasive diagnosis of hereditary transthyretin-related cardiac amyloidosis: A case report. | [
"Cardiac transthyretin amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missed because of the limited specificity of clinical manifestations, routine electrocardiogram, echocardiography and the traditional requirem... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac transthyretin amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Cardiac transthyretin amyloidosis",
"progressive",
"cardiomyopathy",
"cardiac amyloidosis",
"hereditary transthyretin-related cardiac amylodosis",
"hereditary transthyretin-related cardiac amyloidosis",
"hereditary transthyretin-related cardiac amyloidosis"
] | null | [
"lumbago for 5 years",
"progressive weakness",
"numbness in both lower limb",
"clinical signs were not specific",
"relative left ventricular apical sparing of longitudinal strain"
] | [
"medications including diuretics, beta-blockers and angiotensin-converting enzyme inhibitors",
"hospitalization",
"discharge from our hospital"
] | null | [
"continuous elevated serum levels of cardiac biomarkers (ultrasensitive cardiac troponin I and NT-proBNP)"
] | [
"refused further treatments"
] |
fac:31319424 | Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review. | [
"Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a life-threatening autosomal dominant disease caused by the deposition of amyloid fibrils composed of TTR proteins. Symptoms of this disease include progressive sensorimotor neuropathy, cardiomyopathy, and involvement of other organs. We described a pediat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin familial amyloid polyneuropathy (TTR-FAP)\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Transthyretin familial amyloid polyneuropathy (TTR-FAP)",
"extremely early onset TTR-FAP",
"hypertrophic cardiomyopathy",
"TTR-FAPs"
] | [
"autosomal dominant disease",
"TTR Leu55Pro mutation"
] | [
"progressive sensorimotor neuropathy",
"cardiomyopathy",
"involvement of other organs",
"lower limb weakness",
"gait disturbance",
"decreased sensation",
"hypertrophic cardiomyopathy",
"periorbital and scleral ecchymosis",
"anhidrosis",
"orthostatic intolerance",
"gastrointestinal autonomic dysf... | [
"tafamidis, a TTR stabilizing agent"
] | null | null | null |
fac:31228380 | [Problems of diagnostics and treatment of transtiretinum amyloidosis with destruction of the heart in the elderly: Clinical experience.] | [
"The article presents a modern understanding of the treatment of cardiac amyloidosis, provides data on the frequency of occurrence, classification and variants of clinical manifestations of transthyretin amyloidosis. This pathology is a slowly progressive disease, the symptoms of which usually appear in the elderly... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The article presents a modern understanding of the treatment of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac amyloidosis\n <span style=\"font-s... | [
"cardiac amyloidosis",
"transthyretin amyloidosis",
"slowly progressive",
"transtritin amyloidosis of the heart",
"transthyretin amyloidosis"
] | null | [
"primary lesion of the heart",
"symptoms of chronic heart failure"
] | null | null | null | null |
fac:31178489 | Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S). | [
"We report the clinical features of a patient with hereditary transthyretin (ATTR) amyloidosis associated with a novel mutation (Y114S, p.Y134S). A 65-year-old Japanese man was admitted to our hospital after a 3-year history of progressive dyspnea on exertion. Five years previously, he presented dysesthesia in both... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the clinical features of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n hereditary transthyretin (ATTR) amyloidosis\n <span styl... | [
"hereditary transthyretin (ATTR) amyloidosis",
"sporadic"
] | [
"novel mutation (Y114S, p.Y134S)",
"base pair substitution of adenine to cytosine in the second codon of exon 4, residue 114, in the TTR gene (c.401A>C)"
] | [
"progressive dyspnea on exertion",
"dysesthesia in both hands",
"carpal tunnel syndrome",
"progressive cardiomyopathy with a poor vital prognosis",
"late onset",
"bilateral carpal tunnel syndrome",
"hypothyroidism",
"small fiber neuropathy"
] | null | [
"Japanese"
] | null | null |
fac:31169435 | Transthyretin Glu54Leu - an unknown mutation within the Swedish population associated with amyloid cardiomyopathy and a unique fibril type. | [
"For the first time, we report of a Swedish family of five individuals with a TTR Glu54Leu (p. Glu74Leu) mutation in the transthyretin gene. This mutation has been previously described a few times in the literature, but no phenotypic or clinical description has been done before. The most common mutation in the Swed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">For the first time, we report of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Swedish\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"ATTR amyloidosis",
"mainly cardiomyopathy"
] | [
"TTR Glu54Leu (p. Glu74Leu) mutation in the transthyretin gene",
"TTRVal30Met",
"TTRGlu54Leu mutation",
"TTR Glu54Leu"
] | [
"severe cardiomyopathy",
"type A band pattern"
] | [
"heart transplantation for the"
] | [
"Swedish",
"Swedish",
"Sweden"
] | null | null |
fac:31135624 | Transthyretin Amyloidosis Presenting With Upper-Extremity Neuropathy and Paucity of Autonomic Impairment. | [
"We report a 73-year-old man with Val142Ile transthyretin (TTR) amyloidosis and an atypical clinical presentation of upper-extremity-predominant neuropathy without significant autonomic or cardiac involvement. TTR familial amyloid polyneuropathy commonly presents as length-dependent sensorimotor polyneuropathy with... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 73-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Val142Ile transthyretin (TTR) amyloidosis",
"TTR familial amyloid polyneuropathy",
"TTR familial amyloid polyneuropathy",
"familial amyloid cardiomyopathy",
"Val142Ile-mutated TTR amyloidosis"
] | [
"Multiple pathogenic mutations in TTR gene",
"Val50Met",
"Val142Ile"
] | [
"upper-extremity-predominant neuropathy",
"length-dependent sensorimotor polyneuropathy",
"marked and early autonomic involvement",
"Predominant upper-extremity neuropathy"
] | null | [
"nonendemic region"
] | null | [
"without significant autonomic or cardiac involvement",
"without family history for amyloidosis",
"without significant cardiac or autonomic involvement"
] |
fac:31020184 | Case series: clinical outcomes of the transthyretin valine-to-isoleucine mutation in a brother-sister pair. | [
"Approximately 4% of the African-American population possess a valine-to-isoleucine (V122I) substitution within the transthyretin protein that results in a tendency for a normally tetrameric protein to dissociate into misfolded, monomeric subunits. These misfolded proteins can then accumulate pathologically and cau... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Approximately 4% of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n African-American\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"autosomal dominant amyloid cardiomyopathy",
"cardiac amyloidosis"
] | [
"valine-to-isoleucine (V122I) substitution within the transthyretin protein",
"Homozygous",
"heterozygous",
"amyloidogenic transthyretin V122I gene variant",
"transthyretin variant"
] | [
"heart failure",
"recurrent supraventricular tachycardia",
"intermittent chest pain",
"evidence of infiltrative process"
] | [
"orthotopic heart transplantation",
"radiofrequency ablation"
] | [
"African-American",
"African-American",
"African-American",
"African-American"
] | [
"chronically elevated troponin"
] | [
"no evidence of coronary artery disease"
] |
fac:30968039 | Cardiac amyloidosis: A case report and review of literature. | [
"Cardiac amyloidosis, a disease caused by the precipitation of amyloid proteins in the myocardial extracellular matrix has been historically difficult to diagnose due to lack of specific clinical manifestations and necessity of biopsy to demonstrate amyloid deposition. However, advances in cardiovascular imaging te... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Cardiac amyloidosis",
"cardiac amyloidosis",
"Cardiac amyloidosis",
"cardiac amyloidosis"
] | null | [
"sudden onset shortness of breath",
"cardiogenic shock",
"discordance between electrocardiogram and echocardiogram findings"
] | null | [
"African American"
] | [
"amyloid deposition"
] | [
"incurable"
] |
fac:30801482 | Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis. | [
"Transthyretin amyloidosis patients develop length-dependent peripheral neuropathy, autonomic dysfunction, and restrictive cardiomyopathy associated with deposition of amyloid fibrils in these tissues. Despite advances in management over the past decade, this disorder causes profound debilitation and ultimately pro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Transthyretin amyloidosis",
"late-onset cardiac amyloidosis",
"multifocal demyelinating neuropathy",
"transthyretin amyloidosis"
] | [
"transthyretin Thr60Ala mutation"
] | [
"length-dependent peripheral neuropathy",
"autonomic dysfunction",
"restrictive cardiomyopathy",
"profound debilitation",
"bilateral lower-extremity weakness and numbness",
"worsening balance",
"difficulty manipulating objects with his hands",
"finger numbness",
"improved sensation in his hands and ... | [
"investigational RNAi therapeutic, revusiran",
"Intravenous immunoglobulin therapy"
] | null | [
"targets hepatic transthyretin production"
] | [
"absence of histologically detectable endoneurial amyloid deposition"
] |
fac:30604309 | Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. | [
"Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic car... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Tyr78Phe\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form"
] | [
"Tyr78Phe",
"rare pathogenic transthyretin (TTR) mutation",
"Tyr78Phe TTR mutation"
] | [
"neurological manifestations",
"massive but asymptomatic cardiac infiltration",
"only subclinical neurological involvement"
] | null | null | null | null |
fac:30553273 | Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report. | [
"Transthyretin amyloidosis is a systemic disorder caused by extracellular deposition of insoluble amyloid fibrils in peripheral and autonomic nerves, heart, kidney, gastrointestinal tract, and other organs. Hereditary transthyretin amyloidosis is an autosomal dominant disease. More than 120 mutations have been repo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Transthyretin amyloidosis",
"systemic disorder",
"Hereditary transthyretin amyloidosis",
"hereditary transthyretin amyloidosis",
"cardiac amyloidosis",
"cardiomyopathy",
"polyneuropathy",
"transthyretin cardiac amyloidosis",
"hereditary cardiac amyloidosis",
"transthyretin cardiac amyloidosis"
] | [
"autosomal dominant disease",
"in the transthyretin gene",
"transthyretin C70T (Pro24Ser) heterozygous mutation",
"Pro24Ser mutation in transthyretin"
] | [
"cardiac-predominant phenotype",
"embolic stroke",
"hypertrophic cardiomyopathy",
"heart failure",
"autonomic dysfunction",
"severe asymmetric left ventricular hypertrophy",
"biatrial dilatation",
"pericardial effusion",
"preserved left ventricular ejection fraction of 50%",
"severe diastolic dysf... | [
"Tafamidis, a transthyretin stabilizer"
] | [
"Japanese",
"Japan"
] | null | [
"left undiagnosed",
"non-specific symptoms",
"without any clinical signs of systemic amyloidosis manifested as carpal tunnel syndrome",
"cardiac symptoms remained unchanged for 12 months"
] |
fac:30478886 | Monitoring treatment response to tafamidis by serial native T1 and extracellular volume in transthyretin amyloid cardiomyopathy. | [
"Tafamidis meglumine, a transthyretin (TTR) stabilizer, is effective in delaying the progression of neuropathy in TTR amyloidosis with Val30Met mutations. However, its efficacy in TTR amyloid cardiomyopathy is not fully elucidated. Herein, we report a 73-year-old Japanese man with a diagnosis of TTR amyloid cardiom... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Tafamidis meglumine, a transthyretin (TTR) stabilizer\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"TTR amyloidosis",
"TTR amyloid cardiomyopathy",
"TTR amyloid cardiomyopathy",
"cardiac amyloidosis",
"TTR amyloid cardiomyopathy"
] | [
"Val30Met mutations",
"Val30Met mutation",
"Val30Met mutation"
] | [
"neuropathy",
"Native T1, extracellular volume, and left ventricular mass",
"delay the progression of amyloid cardiomyopathy",
"suppressing cardiac progression"
] | [
"Tafamidis meglumine, a transthyretin (TTR) stabilizer",
"tafamidis",
"tafamidis",
"TTR stabilizers",
"tafamidis"
] | [
"Japanese"
] | null | [
"no obvious worsening"
] |
fac:30333406 | Late-onset Transthyretin (TTR)-familial Amyloid Polyneuropathy (FAP) with a Long Disease Duration from Non-endemic Areas in Japan. | [
"We herein report the case of an 84-year-old woman with transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP-ATTR Val30Met), representing a very old case. The patient had muscle weakness and sensory disturbances in her extremities caused by severe peripheral neuropathy. She also had vitreous... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We herein report the case of an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 84-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP-ATTR Val30Met)",
"FAP-ATTR"
] | [
"Val30Met mutation"
] | [
"muscle weakness",
"sensory disturbances in her extremities",
"severe peripheral neuropathy",
"vitreous opacity",
"orthostatic hypotension",
"myocardial accumulation"
] | null | null | null | null |
fac:29779881 | Failure of Tafamidis to Halt Progression of Ala36Pro TTR Oculomeningovascular Amyloidosis. | [
"Oculomeningovascular amyloidosis is a variant of transthyretin (TTR) amyloidotic polyneuropathy, which is associated with blindness and brain ischemia, microhemorrages, and siderosis due to prominent production of the abnormal TTR in the eye and in the choroid plexuses. Tafamidis is a TTR stabilizer that is orally... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Oculomeningovascular amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Oculomeningovascular amyloidosis",
"transthyretin (TTR) amyloidotic polyneuropathy",
"TTR polyneuropathy",
"early-stage cardiomyopathy",
"Val30Met TTR amyloidosis",
"meningovascular amyloidosis",
"oculomeningovascular TTR amyloidoses"
] | [
"familial Ala36Pro TTR amyloidosis"
] | [
"blindness",
"brain ischemia",
"microhemorrages",
"siderosis",
"ocular manifestations of amyloid deposition",
"paresthesias of the lower limbs",
"bowel dysfunction",
"minimal amyloid opacities in the corpus vitreum",
"severe headache",
"left hemiparesthesias",
"numbness lasting 20 minutes",
"m... | [
"Tafamidis",
"TTR stabilizer",
"orally administered",
"tafamidis",
"Treatment with tafamidis meglumine"
] | null | null | [
"despite tafamidis therapy",
"failure of tafamidis to halt progression of oculomeningovascular amyloid deposition",
"tafamidis fails in halting increase of vitreal amyloid deposits",
"ineffective in preventing clinical onset due to progression of meningovascular amyloidosis",
"incapability of tafamidis to c... |
fac:29663861 | Amyloid cardiomyopathy: a hidden heart failure cause that is often misdiagnosed. | [
"Congestive heart failure (CHF) is a very common condition, especially in the elderly, characterized by dyspnea, orthopnea, nocturnal paroxysmal dyspnea, and peripheral edema.",
"We report the case of a 76-year-old with CHF symptoms for the last 3 months. The ECG and transthoracic echocardiogram were suggestive o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Congestive heart failure (CHF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Congestive heart failure (CHF)",
"CHF",
"amyloid cardiomyopathy",
"senile amyloid cardiomyopathy (ATTRw)",
"Cardiac amyloidosis",
"CHF"
] | null | [
"dyspnea",
"orthopnea",
"nocturnal paroxysmal dyspnea",
"peripheral edema",
"CHF symptoms for the last 3 months"
] | null | null | null | [
"negative genetic testing for mutant transthyretin"
] |
fac:29559999 | Recurrent Syncope, a Clue in Amyloid Cardiomyopathy. | [
"Infiltrative cardiomyopathies include a variety of disorders that lead to myocardial thickening resulting in a constellation of clinical manifestations and eventually heart failure that could be the first clue to reach the diagnosis. Among the more described infiltrative diseases of the heart is amyloid cardiomyop... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Infiltrative cardiomyopathies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Infiltrative cardiomyopathies",
"infiltrative diseases of the heart",
"amyloid cardiomyopathy",
"systemic amyloid with polyneuropathy",
"cardiac amyloidosis"
] | null | [
"myocardial thickening",
"constellation of clinical manifestations",
"heart failure",
"subtle, nonspecific symptoms",
"recurrent syncope",
"cardiomyopathy",
"syncope"
] | null | null | null | null |
fac:29246775 | Coronary ectasia in amyloid cardiomyopathy and neuropathy due to the transthyretin mutation c.323A>G. | [
"atrial fibrillation(AF) is a frequent manifestation of cardiac involvement in genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA). However, ectasia of coronary arteries and ablation for AF have not been reported in TTR-FA.",
"A 65yo male developed progressive sensori-motor polyneuropathy sin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n atrial fibrillation(AF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"atrial fibrillation(AF)",
"TTR-FA",
"amyloidosis",
"polyneuropathy",
"TTR-FA",
"TTR-FA"
] | [
"genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA)",
"point mutation c.323A>G (p.His108Arg) in the TTR-gene"
] | [
"cardiac involvement",
"ectasia of coronary arteries",
"progressive sensori-motor polyneuropathy",
"bifascicular block",
"myocardial thickening",
"heart failure",
"ectasias of the coronary arteries",
"AF",
"manifest in the coronary arteries with ectasia"
] | [
"ablation for AF",
"Tafamidis"
] | null | null | [
"biopsy was non-informative",
"neither responding to electrical cardioversion nor ablation",
"did not exhibit a beneficial effect after 7 months",
"Ablation for AF",
"may be unsuccessful",
"Tafamidis has been unsuccessful for cardiac or nerve involvement",
"months"
] |
fac:28694632 | Late-onset Familial Amyloidotic Polyneuropathy with Bence Jones Proteinuria and Cardiomyopathy. | [
"Familial amyloidotic polyneuropathy is a genetically determined disease characterized by deposition of an anomalous transthyretin. A high index of suspicion is needed for this multisymptomatic and lethal disease to be diagnosed. The patient was a 70-year-old male examined due to hypesthesia in the hands and feet, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloidotic polyneuropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Familial amyloidotic polyneuropathy",
"multisymptomatic",
"axonal sensorimotor polyneuropathy",
"familial amyloidotic polyneuropathy",
"monoclonal gammopathy"
] | [
"genetically determined",
"heterozygous Val30Met-transthyretin mutation"
] | [
"hypesthesia in the hands and feet",
"difficulty walking",
"cardiac symptoms",
"diarrhea"
] | null | null | [
"monoclonal spike of light chains (kappa)"
] | null |
fac:28646538 | A novel ATTR L32V mutation causes familial amyloid polyneuropathy in a Bolivian family. | [
"We report a new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val, in a kindred of Bolivian origin with a rapid progressive peripheral neuropathy and cardiomyopathy. Three individuals from a kindred with peripheral nerve and cardiac amyloidosis were examined. Analysis of the TTR gene was ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val\n <span sty... | [
"peripheral nerve and cardiac amyloidosis"
] | [
"new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val",
"c.272 C>G mutation in exon 2 (p.L32V)",
"ATTR L32V"
] | [
"rapid progressive peripheral neuropathy",
"cardiomyopathy"
] | null | [
"Bolivian"
] | [
"presence of both wild-type and variant proteins"
] | null |
fac:28475415 | Transthyretin amyloidosis: a phenocopy of hypertrophic cardiomyopathy. | [
"Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder that affects over one in 500 persons worldwide. The autosomal dominant transmission of HCM implies that many relatives are at risk for HCM associated morbidity and mortality, therefore genetic testing and counselling is of great importance. However... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hypertrophic cardiomyopathy (HCM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Hypertrophic cardiomyopathy (HCM)",
"HCM",
"HCM",
"transthyretin amyloidosis (ATTR)",
"HCM",
"HCM",
"ATTR"
] | [
"inherited cardiac disorder",
"autosomal dominant transmission of HCM",
"mutations in the transthyretin (TTR) gene",
"HCM associated genes",
"TTR mutation",
"(E7G, V30M, T119M, V122I)",
"E7G mutation is probably a non-pathogenic mutation",
"T119M mutation",
"known TTR mutation"
] | [
"HCM",
"phenocopies of HCM",
"diseases that mimic HCM",
"HCM",
"unexplained HCM"
] | [
"counselling"
] | null | null | [
"mutation has not been identified",
"without a detected causal mutation",
"does not cause a cardiac phenotype"
] |
fac:28460244 | Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G). | [
"The clinical description of a novel TTR gene mutation characterized by a late onset amyloid cardiomyopathy.",
"A 78-year-old man of Dutch origin with recent surgery for bilateral carpal tunnel syndrome (CTS) was admitted to our hospital because of heart failure with preserved ejection fraction (55%). Cardiac ult... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical description of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n novel TTR gene mutation\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"cardiac ATTR amyloidosis",
"ATTR A45G amyloidosis"
] | [
"novel TTR gene mutation",
"novel amyloidogenic TTR mutation"
] | [
"late onset amyloid cardiomyopathy",
"bilateral carpal tunnel syndrome (CTS)",
"heart failure with preserved ejection fraction (55%)",
"thickened biventricular walls",
"late gadolinium enhancement",
"Early signs of a polyneuropathy",
"heart failure",
"restrictive cardiomyopathy",
"heart failure due ... | [
"recent surgery"
] | [
"Dutch origin",
"Dutch"
] | null | [
"full diagnostic workup did not reveal any signs of amyloidosis yet"
] |
fac:28425041 | Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always what they seem. | [
"Familial amyloid cardiomyopathy is a challenging condition that mimics many other diseases, particularly in patients with pronounced neurological presentations and unexplained or equivocal cardiac abnormalities. In this case, a 57-year-old man was admitted for outpatient cardiological evaluation of progressive rig... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloid cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Familial amyloid cardiomyopathy",
"chronic Guillain-Barre syndrome",
"Transthyretin (TTR)-associated amyloidosis",
"familial amyloid cardiomyopathy"
] | [
"G > T mutation in exon 4 of the transthyretin (TTR) gene",
"mutation resulted in the alanine-to-serine substitution at amino acid position 117"
] | [
"pronounced neurological presentations",
"unexplained or equivocal cardiac abnormalities",
"progressive right heart failure",
"limb paraesthesias",
"hypertension",
"sick sinus syndrome",
"thickened ventricular wall and enlarged atrium",
"restrictive filling pattern",
"concurrence of independent path... | null | null | null | [
"misdiagnosed as chronic Guillain-Barre syndrome"
] |
fac:28395866 | Cardiac Amyloidosis Phenotype Associated With a Glu89Lys Transthyretin Mutation. | [
"We report a 45-year-old man with rapidly progressive cardiac amyloidosis, who required heart transplantation within 2 years of symptomatic onset. Hematologic testing and initial tissue biopsy results confirmed amyloid infiltration but were inconclusive for the amyloidogenic protein source. Mass spectroscopy and tr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 45-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"rapidly progressive cardiac amyloidosis",
"TTR amyloidosis",
"TTR amyloidosis"
] | [
"Glu89Lys mutation"
] | [
"predominantly neuropathic phenotype",
"primarily cardiac presentation"
] | [
"heart transplantation"
] | null | null | [
"were inconclusive for the amyloidogenic protein source"
] |
fac:28326465 | PET-CT evaluation of amyloid systemic involvement with [18F]-florbetaben in patient with proved cardiac amyloidosis: a case report. | [
"One of the most frequent disorders which lead to cardiac amyloidosis is transthyretin-related amyloidosis (ATTR). Some PET radio-pharmaceuticals for the detection of beta-amyloid deposits within the brain have shown to be able to detect also cardiac amyloid deposits. We present a case of a man with ATTR studied wi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">One of the most frequent disorders which lead to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac amyloidosis\n <span style=\"font-size: 0.8em; fon... | [
"cardiac amyloidosis",
"transthyretin-related amyloidosis (ATTR)",
"ATTR",
"amyloidosis",
"systemic disease"
] | null | [
"cardiac amyloid deposits",
"significant cortical brain uptake of the radio-pharmaceutical more evident in correspondence of frontal and temporal lobes",
"Brain amyloid deposition"
] | null | null | null | [
"no significant myocardial uptake was present",
"low mean cardiac SUV values",
"absence of significant myocardial uptake",
"not be caused by the same amyloid precursor"
] |
fac:28152524 | Tafamidis for the Treatment of Hereditary Transthyretin Amyloid Cardiomyopathy: A Case Report. | [
"Tafamidis meglumine is a novel medicine that has been shown to slow the progression of peripheral neurological impairment in patients with hereditary transthyretin amyloidosis (ATTR). However, the efficacy of tafamidis against ATTR-related cardiac amyloidosis remains unclear. A 72-year-old woman had cardiac hypert... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Tafamidis meglumine\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"hereditary transthyretin amyloidosis (ATTR)",
"ATTR-related cardiac amyloidosis",
"infiltrative cardiomyopathy consistent with amyloidosis",
"ATTR"
] | null | [
"peripheral neurological impairment",
"cardiac hypertrophy",
"axonopathy in her lower legs",
"QRS prolongation",
"increase in interventricular septal thickness",
"signs of worsening amyloid cardiomyopathy"
] | [
"Tafamidis meglumine",
"novel medicine",
"tafamidis",
"tafamidis",
"tafamidis treatment",
"treatment with tafamidis"
] | null | null | [
"no change in the axonopathy in her lower legs",
"no apparent progression of axonopathy"
] |
fac:27872470 | Hereditary Amyloidosis with Recurrent Lung Infiltrates. | [
"BACKGROUND Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">BACKGROUND \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Amyloidosis",
"protein conformational disorder",
"secondary AL amyloidosis",
"familial autosomal-dominant senile transthyretin (ATTR) disease",
"polyneuropathy",
"restrictive cardiomyopathy",
"familial amyloidotic polyneuropathy (FAP)",
"chronic demyelinating polyneuropathy",
"familial amyloidotic ... | null | [
"Lung involvement",
"clinical and radiologically relevant respiratory tract symptoms",
"lung involvement",
"progressive lower-extremity weakness of several months' duration",
"heart failure symptoms",
"pulmonary infiltrates",
"'myocardial speckled pattern'",
"cough",
"dyspnea",
"hypoxemia",
"let... | [
"former smoker",
"intravenous immunoglobulin therapy",
"started on diflunisal"
] | null | null | null |
fac:29465889 | [Transthyretin familial amyloid polyneuropathy - three Hungarian cases with rare mutations (His88Arg and Phe33Leu)]. | [
"Introduction - Transthyretin familial amyloid polyneuropathy is a rare autosomal dominant progressive systemic disesase of adults caused by endoneural amyloid deposition due to point mutations of the transthyretin gene. It is the most severe form among hereditary polyneuropathies, being fatal within 10 years if le... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Introduction - \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin familial amyloid polyneuropathy\n <span style=\"font-size: 0.8em; font-weight... | [
"Transthyretin familial amyloid polyneuropathy",
"rare autosomal dominant progressive systemic disesase",
"hereditary polyneuropathies",
"transthyretin familial amyloid polyneuropathy",
"transthyretin familial amyloid polyneuropathy",
"transthyretin familial amyloid polyneuropathy",
"late-onset, progres... | [
"point mutations of the transthyretin gene",
"non-Val30Met mutations (His88Arg",
"Phe33Leu",
"non-Val30Met mutation",
"Val30Met"
] | [
"fatal",
"late-onset, progressive, length-dependent, axonal, sensorimotor polyneuropathy",
"severe restrictive cardiomyopathy",
"clinical and electrophysiological signs of myopathy",
"involvement of skeletal muscles",
"segmental structural alterations (change or loss of fascicular structure)",
"some inc... | [
"causal therapy (tafamidis)"
] | [
"Hungarian",
"Hungary"
] | null | [
"without substantial enlargement of the nerves",
"of unknown etiology"
] |
fac:27103598 | Acute cardiac failure secondary to senile systemic amyloidosis. | [
"Hereditary or senile transthyretin (TTR) cardiac amyloidosis is a rare and underestimated cause of heart failure in old patients. New diagnostic methods, particularly cardiac MRI and proteomic analysis, have been recently developed that enable both earlier identification and development of specific treatments.We r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary or senile transthyretin (TTR) cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight... | [
"Hereditary or senile transthyretin (TTR) cardiac amyloidosis",
"cardiac amyloidosis"
] | null | [
"heart failure",
"late-onset heart failure"
] | null | null | null | null |
fac:26251157 | Clinical and echocardiographic characteristics for differentiating between transthyretin-related and light-chain cardiac amyloidoses. | [
"Differential diagnosis between transthyretin (TTR) and immunoglobulin light-chain (AL) cardiac amyloidoses is essential due to significantly different prognoses and therapeutic options. Therefore, clinical characteristics of patients with biopsy-proven cardiac amyloidosis were investigated to differentiate TTR fro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"transthyretin (TTR) and immunoglobulin light-chain (AL) cardiac amyloidoses",
"biopsy-proven cardiac amyloidosis",
"TTR",
"AL amyloidosis",
"cardiac amyloidosis (TTR,",
"AL",
"TTR amyloidosis",
"AL amyloidosis",
"AL amyloidosis",
"TTR amyloidosis",
"TTR amyloidosis",
"AL amyloidosis",
"AL a... | null | [
"the LV wall was significantly thicker",
"ratio of BNP to LV mass index (LVMI)"
] | null | null | [
"serum brain natriuretic peptide (BNP) levels",
"were significantly higher than those",
"BNP-LVMI ratio of less than 3.5",
"BNP-LVMI ratio"
] | [
"no statistically significant differences in echocardiographic findings regarding left ventricular (LV) systolic function or diastolic dysfunction"
] |
fac:26193961 | Personalized medicine approach for optimizing the dose of tafamidis to potentially ameliorate wild-type transthyretin amyloidosis (cardiomyopathy). | [
"Placebo-controlled clinical trials are useful for identifying the dose of a drug candidate that produces a meaningful clinical response in a patient population. Currently, Pfizer, Inc. is enrolling a 400-person clinical trial to test the efficacy of 20 or 80 mg of tafamidis to ameliorate transthyretin (TTR)-associ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Placebo-controlled clinical trials are useful for identifying the dose of a drug candidate that produces a meaningful clinical response in a patient population. Currently, Pfizer, Inc. is enrolling a \n<mark class=\"entity\" style=\"background: #dd... | [
"transthyretin (TTR)-associated cardiomyopathy",
"TTR cardiomyopathy",
"TTR amyloidoses"
] | null | null | [
"400-person",
"20 or 80 mg of tafamidis",
"tafamidis",
"tafamidis",
"tafamidis",
"20-mg tafamidis dose",
"60 mg once daily dose",
"tafamidis"
] | null | [
"kinetically stabilizes TTR in the blood",
"Tetramer dissociation",
"TTR aggregation",
"TTR tetramer dissociation rate (kinetic stability) in the patient's plasma",
"higher tafamidis plasma concentrations are maximally kinetically stabilized",
"kinetic stabilization",
"TTR kinetic stabilization"
] | null |
fac:26179325 | Myopathy in a patient with systemic AA amyloidosis possibly induced by psoriasis vulgaris: An autopsy case. | [
"Amyloid myopathy is a rare manifestation of primary systemic amyloid light-chain (AL) amyloidosis, but it has not been reported to occur in secondary amyloid A (AA) amyloidosis.",
"We describe a 46-year-old man with psoriasis vulgaris who presented with idiopathic upper and lower limb weakness and was eventually... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloid myopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Amyloid myopathy",
"primary systemic amyloid light-chain (AL) amyloidosis",
"secondary amyloid A (AA) amyloidosis",
"psoriasis vulgaris",
"hypertrophic cardiomyopathy",
"mild inflammatory myopathy",
"systemic AA amyloidosis with muscle amyloid angiopathy",
"psoriasis vulgaris",
"myopathy",
"syste... | null | [
"idiopathic upper and lower limb weakness",
"died",
"cardiopulmonary arrest"
] | null | null | null | null |
fac:25819286 | Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy. | [
"Hereditary transthyretin amyloidosis (ATTR) is a genetically and clinically heterogeneous disease manifesting with predominant peripheral and autonomic neuropathy; cardiomyopathy, or both. ATTR V122I is the most common variant associated with non-neuropathic familial amyloid cardiomyopathy. We present an unusual c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary transthyretin amyloidosis (ATTR)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Hereditary transthyretin amyloidosis (ATTR)",
"non-neuropathic familial amyloid cardiomyopathy",
"V122I amyloidosis",
"amyloid neuropathy",
"infiltrative cardiomyopathy",
"Extracardiac amyloidosis"
] | [
"ATTR V122I",
"homozygous for the V122I variant of transthyretin"
] | [
"predominant peripheral and autonomic neuropathy",
"cardiomyopathy",
"myopathy",
"diffuse tracer uptake on (99m)Tc-3,3-Diphosphono-1,2-Propanodicarboxylic acid (DPD) scintigraphy",
"throughout skeletal and cardiac muscle",
"cardiac failure",
"general weakness",
"myopathic features",
"Symptomatic myo... | [
"treated with diflunisal, an oral TTR stabilising agent"
] | [
"Jamaican"
] | null | null |
fac:25803181 | Extracorporeal membrane oxygenation as bridge-to-decision in acute heart failure due to systemic light-chain amyloidosis. | [
"Female, 58.",
"Acute hear failure.",
"Dispnoea • edema • fatigue.",
"—",
"Bone marrow biopsy • endomyocardial biopsy • abdominal subcutaneous fat biopsy under ECMO support.",
"Cardiology.",
"Rare disease.",
"Cardiac amyloidosis results from the amyloid deposition in heart tissue, either in the contex... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"Rare disease",
"Cardiac amyloidosis",
"systemic disease",
"amyloidoses",
"multiple myeloma-associated systemic light-chain amyloidosis (AL)",
"cardiac amyloidosis",
"AL amyloidosis"
] | null | [
"Acute hear failure",
"Dispnoea",
"edema",
"fatigue",
"(cardiac and extracardiac)",
"acute heart failure",
"echocardiographic findings strongly suggestive of infiltrative cardiomyopathy",
"Refractory shock with multi-organic failure syndrome persisted",
"died",
"heart failure",
"restrictive type... | [
"ECMO support",
"percutaneous veno-arterial extracorporeal membrane oxygenation (ECMO) as bridge-to-decision",
"ECMO withdrawal",
"14 days of ECMO support",
"chemotherapy",
"ECMO",
"bridge-to-diagnosis and bridge-to-decision",
"experienced ECMO team",
"wean or stop ECMO"
] | null | [
"hypercalcemia"
] | [
"no improvements in left ventricular function and structure were seen",
"not considered eligible for high-dose chemotherapy and/or autologous stem cell transplantation, heart transplantation, or sequential heart with autologous stem cell transplantation",
"no major bleeding or thrombotic complications",
"abse... |
fac:25793032 | Case report: isolated cardiac amyloidosis: an enigma unravelled. | [
"Amyloidosis is a rare, multisystem disease characterized by deposition of fibrils in extracellular tissue involving kidney, liver, heart, autonomic nervous system, and several other organs. This report discusses a 75-year-old male who presented with worsening dyspnea on exertion, orthopnea, and lower-extremity ede... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidosis",
"multisystem disease",
"cardiac amyloidosis",
"isolated cardiac amyloidosis",
"isolated cardiac amyloid",
"Isolated cardiac amyloidosis"
] | [
"mutant transthyretin protein (Val-122-Ile)"
] | [
"worsening dyspnea on exertion",
"orthopnea",
"lower-extremity edema",
"elevated jugular venous pressure",
"lower-extremity edema",
"low voltage in limb leads and a prolonged PR interval",
"left ventricular hypertrophy",
"severe biatrial dilatation",
"restrictive filling physiology",
"\"dip-and-pl... | null | null | null | [
"absence of significant epicardial coronary artery disease",
"a complete hematology work-up for systemic amyloidosis was negative"
] |
fac:25721874 | A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His88Arg (p. His108Arg) amyloidosis family. | [
"In 2005 we reported the first case of transthyretin His88Arg (p. His108Arg) amyloidosis, a mutation characterised by cardiomyopathy. Six additional gene carriers of whom five have clinical symptoms of disease have now been identified in Sweden, and we have been able to identify a possible founder and to characteri... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In 2005 we reported the first case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n transthyretin His88Arg (p. His108Arg) amyloidosis\n <span style=\"fo... | [
"transthyretin His88Arg (p. His108Arg) amyloidosis",
"cardiomyopathy",
"severe amyloid cardiomyopathy",
"carpal tunnel syndrome"
] | [
"transthyretin (TTR) His88Arg mutation",
"TTR His88Arg mutation",
"TTRHis88Arg"
] | [
"pronounced peripheral axonal neuropathy",
"cardiac failure",
"Cardiomyopathy with heart failure",
"carpal tunnel syndrome",
"spinal stenosis",
"peripheral neuropathy",
"cardiomyopathy"
] | [
"sequential heart and liver transplantation"
] | [
"Sweden",
"Sweden",
"Swedish",
"Swedish founder"
] | null | [
"without any effect on his neurological symptoms",
"no symptoms or findings of disease"
] |
fac:25674390 | Cardiac amyloidosis in a heart transplant patient - A case report and retrospective analysis of amyloidosis evolution. | [
"Cardiac amyloidosis is a very rare cause of heart failure in heart transplant recipients but an important differential diagnosis in cases of progressive cardiac failure. We report a 72-year-old male patient with the diagnosis of senile systemic amyloidosis (SSA) in a transplanted heart 15 years after transplantati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Cardiac amyloidosis",
"senile systemic amyloidosis (SSA)",
"dilated cardiomyopathy"
] | null | [
"heart failure",
"progressive cardiac failure"
] | [
"heart transplant recipients",
"transplanted heart",
"transplantation"
] | null | null | null |
fac:25557530 | Amyloid polyneuropathy caused by wild-type transthyretin. | [
"Amyloidosis derived from transthyretin (TTR) molecules is typically caused by mutations of the TTR gene.",
"We describe an elderly patient with a severe length-dependent polyneuropathy that unexpectedly proved to be caused by wild-type transthyretin amyloidosis.",
"The diagnosis was made by muscle biopsy, beca... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloidosis derived from transthyretin (TTR) molecules\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"severe length-dependent polyneuropathy",
"wild-type transthyretin amyloidosis",
"wild-type transthyretin amyloidosis",
"cardiomyopathy",
"polyneuropathy",
"hereditary transthyretin amyloidosis",
"wild-type disease"
] | [
"mutations of the TTR gene"
] | null | null | null | null | [
"no amyloid deposits were found in the biopsied nerve segment"
] |
fac:25432650 | Transthyretin cardiac amyloidosis: an under-diagnosed cause of heart failure. | [
"Cardiac amyloidosis is the most common cause of infiltrative cardiomyopathy and is associated with a poor prognosis. Transthyretin cardiac amyloidosis, particularly the type caused by the mutation that replaces the amino acid valine with the amino acid isoleucine at position 122 (Val122Ile), is most common among A... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Cardiac amyloidosis",
"infiltrative cardiomyopathy",
"Transthyretin cardiac amyloidosis",
"non-ischemic cardiomyopathy",
"familial transthyretin cardiomyopathy",
"Systemic amyloidosis",
"variant transthyretin cardiac amyloidosis",
"Familial amyloid cardiomyopathy",
"heart failure",
"cardiac amylo... | [
"mutation that replaces the amino acid valine with the amino acid isoleucine at position 122 (Val122Ile)",
"Val122Ile",
"Val30Met",
"Thr60Ala",
"Val122Ile mutation"
] | [
"heart failure",
"gradually worsening dyspnea on exertion",
"lower extremity edema",
"decrease in ejection fraction to 30% from 45% in the span of a year",
"progressive and irreversible dysfunction",
"significant irreversible deterioration",
"heart failure symptoms",
"symmetric left ventricular (LV) h... | null | [
"African- Americans",
"African American",
"African American/Caribbean"
] | null | null |
fac:25282716 | Facing the challenges of ventricular hypertrophy: the eyes don't lie. | [
"We describe the case of a 47-year-old man with new-onset heart failure who was found to have severe biventricular wall thickening. We present comprehensive data from invasive and non-invasive multimodality imaging, genetic and histologic tests, and briefly describe their importance in the final diagnosis. To our k... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 47-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"familial amyloid polyneuropathy",
"infiltrative cardiomyopathy"
] | null | [
"new-onset heart failure",
"severe biventricular wall thickening",
"heart failure"
] | null | null | null | null |
fac:24818650 | Isolated heart transplantation for familial transthyretin (TTR) V122I cardiac amyloidosis. | [
"Transthyretin (TTR) cardiac amyloidosis is characterized by deposition of either mutant or wild type TTR amyloid protein in the myocardium ultimately leading to progressive cardiomyopathy and heart failure. The most common TTR gene mutation that leads to TTR cardiac amyloidosis is the valine-to-isoleucine substitu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin (TTR) cardiac amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Transthyretin (TTR) cardiac amyloidosis",
"TTR cardiac amyloidosis",
"mutant TTR cardiac amyloidosis"
] | [
"TTR gene mutation",
"valine-to-isoleucine substitution at position 122 (V122I or Ile122)",
"heterozygous Val122L mutated TTR-related cardiac amyloidosis"
] | [
"progressive cardiomyopathy",
"heart failure"
] | [
"combined or sequential liver-heart transplantation",
"isolated heart transplantation",
"MMF mycophenolate mofetil"
] | null | [
"TTR production",
"TTR transthyretin VE minute ventilation"
] | [
"no recurrence of amyloid in the cardiac allograft",
"no systemic abnormalities",
"years after heart transplantation"
] |
fac:24742789 | [Perioperative management for liver transplant in a patient with familial amyloid polyneuropathy with heart involvement]. | [
"Familial amyloid polyneuropathy (FAP) is a systemic amyloidosis caused by mutated transthyretin. Cardiac amyloidosis, the major prognostic determinant in systemic amyloidosis, is characterized by infiltration of the myocardium, leading to cardiomyopathy and conduction disturbances. Liver transplantation is the onl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloid polyneuropathy (FAP)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Familial amyloid polyneuropathy (FAP)",
"systemic amyloidosis",
"Cardiac amyloidosis",
"systemic amyloidosis",
"FAP",
"type i FAP"
] | [
"mutated transthyretin"
] | [
"cardiomyopathy",
"conduction disturbances",
"cardiac involvement"
] | [
"Liver transplantation",
"liver transplant surgery"
] | null | null | [
"without any preoperative event of interest"
] |
fac:24361154 | [Sequential heart and liver transplantation for familial amyloid polyneuropathy]. | [
"Combined heart and liver transplantation for familial amyloid polyneuropathy (FAP) is currently the best treatment for patients with cardiomyopathy related to FAP. However, its optimal timing and the possibility of domino liver transplantation in this setting remain under discussion. Most such cases in the medical... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Combined heart and liver transplantation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"familial amyloid polyneuropathy (FAP)",
"cardiomyopathy",
"FAP",
"FAP",
"FAP"
] | [
"non-Val30Met mutation"
] | null | [
"Combined heart and liver transplantation",
"domino liver transplantation",
"use of veno-venous bypass",
"not used the liver as a graft for domino liver transplantation",
"underwent sequential heart and domino liver transplantation",
"sequential heart and liver transplantation",
"domino liver transplant... | null | null | null |
fac:24358189 | Structure-based analysis of A19D, a variant of transthyretin involved in familial amyloid cardiomyopathy. | [
"Transthyretin (TTR) is a tetrameric beta-sheet-rich protein. Its deposits have been implicated in four different amyloid diseases. Although aggregation of the wild-type sequence is responsible for the senile form of the disease, more than one hundred variants have been described thus far, most of which confer a mo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin (TTR)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Transthyretin (TTR)",
"amyloid diseases",
"severe cardiomyopathy"
] | [
"rare mutation in exon 2 of the TTR gene that results in an Ala to Asp substitution at position 19 (A19D)",
"V30M (more amyloidogenic than WT-TTR",
"T119M (non-amyloidogenic",
"A19D and V30M",
"T119M",
"concentration of four non-native negative charges occur inside thyroxine-binding channels",
"A19D var... | [
"loss of contacts at both the tetrameric and dimeric interfaces"
] | null | [
"Brazilian",
"Brazil"
] | [
"decreased stability of"
] | null |
fac:24184229 | Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life. | [
"Individuals heterozygous for the V122I mutation in transthyretin (TTR) tend to develop cardiac amyloidosis, often after the seventh decade of life. Although homozygotes have been reported, these have typically been single case reports. We report a cohort of 13 V122I homozygotes. TTR gene sequencing results from th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Individuals \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygous for the V122I mutation in transthyretin (TTR)\n <span style=\"font-size: 0.8em; f... | [
"cardiac amyloidosis"
] | [
"heterozygous for the V122I mutation in transthyretin (TTR)",
"homozygotes",
"V122I homozygotes",
"heterozygotes",
"V122I alteration",
"homozygous V122I",
"heterozygotes",
"heterozygotes",
"novel V122I compound heterozygotes",
"homozygous V122I"
] | null | null | [
"African American",
"white"
] | null | null |
fac:24030042 | A novel variant mutation of transthyretin Ile73Val-related amyloidotic polyneuropathy in Taiwanese. | [
"Familial amyloidotic polyneuropathy (FAP) is an inherited disease caused by deposition of mutant amyloid proteins in the peripheral nerves. Abnormal transthyretin (TTR) accounts for protein aggregation in the majority of FAP. Val30Met is the most common TTR gene-mutation reported in different ethnic populations. I... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloidotic polyneuropathy (FAP)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Familial amyloidotic polyneuropathy (FAP)",
"FAP",
"amyloidotic polyneuropathy",
"axonal sensory-motor polyneuropathy",
"amyloidotic restrictive cardiomyopathy"
] | [
"inherited disease",
"Val30Met",
"TTR gene-mutation",
"Ala97Ser mutation",
"hot-spot of TTR mutations",
"Ile73Val mutation",
"Ile73Val TTR mutation",
"Ile73Val TTRR mutation",
"Ile73Val TTR mutation",
"TTR gene mutations"
] | [
"symptoms and signs of sensory motor polyneuropathy",
"early gastrointestinal autonomic dysfunction",
"orthostatic hypotension",
"cardiovascular autonomic dysfunction",
"impaired sudomotor activity",
"gastrointestinal dysfunction",
"painful neuropathy"
] | null | [
"Taiwan",
"Bangladeshi",
"Taiwan",
"Taiwan",
"Bangladeshi"
] | [
"Abnormal transthyretin (TTR)"
] | null |
fac:23993291 | Severe heart disease in an unusual case of familial amyloid polyneuropathy type I. | [
"Familial amyloid polyneuropathy type I (FAP type I) is a rare hereditary systemic amyloidosis caused by the Val30Met mutation in the transthyretin (TTR) gene. The clinical onset and spectrum are variable and depend on phenotypic heterogeneity. Cardiac complications (dysrhythmias and conduction disturbances, cardio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloid polyneuropathy type I (FAP type I)\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"Familial amyloid polyneuropathy type I (FAP type I)",
"rare hereditary systemic amyloidosis",
"FAP type I",
"amyloid heart disease"
] | [
"Val30Met mutation in the transthyretin (TTR) gene"
] | [
"Cardiac complications",
"dysrhythmias and conduction disturbances",
"cardiomyopathy",
"dysautonomia",
"severe cardiac involvement",
"its complications"
] | [
"liver transplantation"
] | null | null | null |
fac:23825783 | Diagnosis of systemic amyloidosis and amyloidosis mediated cardiomyopathy by VATS pleural biopsy for chronic pleural effusion. | [
"Amyloidosis is a family of diseases characterized by the extracellular accumulation of amyloid protein, causing altered physiology based on its abnormal deposition in an organ. The etiology of persistent pleural effusions in patients with systemic amyloidosis is unknown. Endomyocardial biopsy is the gold standard ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidosis",
"systemic amyloidosis",
"systemic amyloidosis",
"systemic amyloidosis"
] | null | [
"altered physiology",
"persistent pleural effusions",
"cardiac involvement"
] | [
"video-assisted thoracic surgery"
] | null | null | [
"false negative endomyocardial biopsy"
] |
fac:23729543 | Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome. | [
"Mutations in SLC29A3 lead to pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) and H syndromes, familial Rosai-Dorfman disease, and histiocytosis-lymphadenopathy plus syndrome. We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like cha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mutations in SLC29A3\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"non-autoimmune insulin-dependent diabetes mellitus (PHID)",
"H syndromes",
"familial Rosai-Dorfman disease",
"histiocytosis-lymphadenopathy plus syndrome",
"PHID syndrome",
"PHID syndrome",
"PHID syndrome",
"novel monogenic autoinflammatory syndrome (AIS)",
"AIS"
] | [
"Mutations in SLC29A3"
] | [
"pigmentary hypertrichosis",
"severe systemic inflammation",
"scleroderma-like changes",
"cardiomyopathy",
"shortness of breath",
"hepatosplenomegaly",
"biventricular myocardial hypertrophy",
"circumferential late gadolinium enhancement of the myocardium",
"intra-abdominal fat surrounding the solid ... | null | null | [
"raised erythrocyte sedimentation rate and C-reactive protein",
"severe elevation of serum amyloid"
] | [
"No systemic amyloid deposits were observed on a whole-body serum amyloid P scintigraphy scan",
"blockade of interleukin-1 and tumor necrosis-α was ineffective"
] |
fac:23231421 | High 99mTc-DPD myocardial uptake in a patient with apolipoprotein AI-related amyloidotic cardiomyopathy. | [
"Amyloidotic cardiomyopathy is still a widely underdiagnosed condition that usually requires endomyocardial biopsy (EMB) for a definite diagnosis. 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD) has proven highly sensitive for detecting amyloidotic cardiomyopathy due to transthyretin-related amyloid ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloidotic cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Amyloidotic cardiomyopathy",
"amyloidotic cardiomyopathy",
"transthyretin-related amyloid deposition",
"amyloidotic cardiomyopathy",
"familial apolipoprotein AI amyloidosis due to Leu174Ser variant"
] | null | null | null | null | null | null |
fac:22560514 | Inclusion body myositis coexisting with hypertrophic cardiomyopathy: an autopsy study. | [
"Inclusion body myositis is an inflammatory myopathy characterized pathologically by rimmed vacuoles and the accumulation of amyloid-related proteins. Autopsy studies in these patients, including histochemical examinations of multiple skeletal muscles, have not yet been published. In this paper, we describe the aut... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Inclusion body myositis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Inclusion body myositis",
"inflammatory myopathy",
"inclusion body myositis",
"hypertrophic cardiomyopathy",
"human T lymphotropic virus type 1 carrier",
"muscle degeneration",
"autoimmunity",
"familial hypertrophic cardiomyopathy",
"human T lymphotropic virus type 1 infection"
] | [
"myosin binding protein C3 mutation"
] | [
"slowly progressive muscle weakness and atrophy",
"predominantly affecting the scapular, quadriceps femoris, and forearm flexor muscles",
"more rapidly progressive",
"died suddenly of arrhythmia",
"multiple muscles, including the respiratory muscles, were involved",
"skeletal muscles"
] | null | null | null | [
"amount of inflammatory infiltrate appeared to be decreased"
] |
fac:22449240 | The first Caucasian patient with p.Val122Ile mutated-transthyretin cardiac amyloidosis treated with isolated heart transplantation. | [
"Effective treatments for mutated transthyretin (TTR)-related cardiac amyloidosis are limited. Heart transplantation or combined liver-heart transplantation are the most successful options, although results rely on underline mechanism and systemic nature of the disease. In this report, we present the first case of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Effective treatments for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutated transthyretin (TTR)-related cardiac amyloidosis\n <span style=\"font-size... | [
"mutated transthyretin (TTR)-related cardiac amyloidosis"
] | [
"p.Val122Ile mutated TTR-related cardiac amyloidosis",
"gene mutation",
"gene mutation generally associated with isolated cardiac disease",
"p.Val122Ile TTR mutation",
"p.Val122Ile mutated TTR-related cardiac amyloidosis",
"TTR p.Val122Ile"
] | [
"isolated heart involvement",
"severe and progressive cardiac disease"
] | [
"Heart transplantation",
"combined liver-heart transplantation",
"heart transplantation",
"isolated heart transplantation",
"combined heart and liver transplantations",
"post-transplant"
] | [
"Caucasian",
"Afro-Americans",
"European Caucasian",
"Caucasian",
"European Caucasian"
] | null | [
"absence of relevant extra-cardiac involvement",
"mild peripheral neuropathy)"
] |
fac:22412233 | Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis. | [
"Multiple precursor proteins have been shown to cause cardiac amyloidosis. The most common forms are due either to immunoglobulin light chains or to transthyretin proteins (either wild-type or mutant forms). Correct subclassification of the amyloid is paramount because treatment differs in accordance with the type ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Multiple precursor proteins have been shown to cause \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac amyloidosis\n <span style=\"font-size: 0.8em;... | [
"cardiac amyloidosis",
"immunoglobulin light chains",
"amyloidosis",
"hereditary transthyretin cardiac amyloidosis",
"cardiac amyloidosis"
] | null | null | null | null | null | null |
fac:22382560 | Two siblings diagnosed to have transthyretin-related familial amyloid cardiomyopathy around the same time at different hospitals. | [
"Mutation in the transthyretin (TTR) gene may clinically manifest as cardiomyopathy. Here, we describe 69-year-old and 72-year-old brothers who were diagnosed as having TTR-related familial amyloid cardiomyopathy by endomyocardial biopsy at different hospitals at around the same time. They were not from an endemic ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mutation in the transthyretin (TTR) gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"cardiomyopathy",
"TTR-related familial amyloid cardiomyopathy",
"cardiomyopathy of unknown etiology"
] | [
"Mutation in the transthyretin (TTR) gene",
"base change in the TTR gene leading to a p.Val30Met mutation"
] | null | null | null | null | [
"not from an endemic area of familial amyloid polyneuropathy"
] |
fac:22329529 | Transthyretin cardiac amyloidoses in older North Americans. | [
"The amyloidoses are a group of hereditary or acquired disorders caused by the extracellular deposition of insoluble protein fibrils that impair tissue structure and function. All amyloidoses result from protein misfolding, a common mechanism for disorders in older persons, including Alzheimer's disease and Parkins... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n amyloidoses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"amyloidoses",
"amyloidoses",
"Alzheimer's disease",
"Parkinson's disease",
"cardiac amyloidoses",
"familial amyloidotic cardiomyopathy",
"senile cardiac amyloidosis",
"TTR cardiac amyloidosis",
"TTR amyloidosis"
] | [
"hereditary",
"Abnormalities in the protein transthyretin (TTR",
"Mutations in TTR",
"wild-type TTR"
] | [
"impair tissue structure and function",
"restrictive cardiomyopathy",
"congestive heart failure",
"arrhythmias",
"advanced conduction system disease"
] | [
"supportive medical care",
"avoidance of potentially toxic agents",
"rarely organ transplantation",
"targeted pharmacotherapies",
"disease-modifying agents"
] | null | [
"serum transporter of thyroxine and retinol",
"TTR misfolding and amyloid deposition"
] | null |
fac:22149423 | Technetium pyrophosphate myocardial uptake and peripheral neuropathy in a rare variant of familial transthyretin (TTR) amyloidosis (Ser23Asn): a case report and literature review. | [
"We report the fourth case of transthyretin amyloidosis (ATTR) Ser23Asn in a 41-year-old Ecuadorian male. He has a pedigree that spans seven generations and involves 24 family members who suffered early cardiac death. Salient presenting symptoms were fatigue, shortness of breath, and peripheral neuropathy. The diag... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the fourth case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n transthyretin amyloidosis (ATTR) Ser23Asn\n <span style=\"font-size: 0.8em; f... | [
"transthyretin amyloidosis (ATTR) Ser23Asn",
"cardiac amyloid"
] | [
"Ser23Asn transthyretin (TTR) variant",
"rare Ser23Asn mutation"
] | [
"fatigue",
"shortness of breath",
"peripheral neuropathy",
"myocardial amyloid involvement",
"peripheral nerve in addition to cardiac involvement",
"myocardial amyloid"
] | [
"successful combined heart and liver transplant"
] | [
"Ecuadorian"
] | null | null |
fac:20814501 | Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: phenotypic, pathological, and MRI description. | [
"Familial amyloidotic polyneuropathy (FAN type 1) is a rare systemic disease that causes severe and disabling peripheral neuropathy. We describe the phenotypic, radiological, and pathological characteristics of a patient with familial amyloid polyneuropathy type 1 who had evidence of motor-sensory-autonomic neuropa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloidotic polyneuropathy (FAN type 1)\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Familial amyloidotic polyneuropathy (FAN type 1)",
"rare systemic disease",
"familial amyloid polyneuropathy type 1"
] | null | [
"severe and disabling peripheral neuropathy",
"motor-sensory-autonomic neuropathy",
"ocular vitreous deposits",
"diffuse leptomeningeal involvement",
"hypertrophic cardiomyopathy",
"Muscle involvement"
] | null | null | null | null |
fac:20558946 | A case of familial amyloid polyneuropathy due to Phe33Val TTR with vitreous involvement as the initial manifestation. | [
"We report a 61-year-old Japanese woman with transthyretin (TTR) Val33-related familial amyloid polyneuropathy (FAP). She presented with late-onset, vitreous involvement as the initial manifestation, slow development of polyneuropathy, cardiomyopathy, and severe autonomic failure without carpal tunnel syndrome. Liv... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 61-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"familial amyloid polyneuropathy (FAP)",
"Val33 FAP",
"FAP"
] | [
"transthyretin (TTR) Val33-related"
] | [
"late-onset",
"vitreous involvement",
"slow development of polyneuropathy",
"cardiomyopathy",
"severe autonomic failure",
"vitreous opacities",
"Vitreous amyloidosis",
"involvement of other visceral organs",
"vitreous opacities"
] | [
"Liver transplantation"
] | [
"Japanese"
] | null | [
"without carpal tunnel syndrome"
] |
fac:19617578 | How I treat amyloidosis. | [
"Amyloidosis is an uncommon disorder in which proteins change conformation, aggregate, and form fibrils that infiltrate tissues, leading to organ failure and death. The most frequent types are light-chain (AL) derived from monoclonal B-cell disorders producing amyloidogenic immunoglobulin light chains, and the here... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Amyloidosis",
"light-chain (AL)",
"monoclonal B-cell disorders",
"and \"senile systemic\" (ATTR)",
"AL",
"organ disease",
"ATTR",
"AL",
"ATTR",
"AL",
"multiple myeloma",
"amyloidosis",
"multisystem disease",
"amyloidosis"
] | [
"hereditary",
"mutant and wild-type transthyretin (TTR)"
] | [
"organ failure",
"death",
"cardiomyopathy",
"heart failure"
] | [
"counseling",
"prompt therapy"
] | null | [
"amyloidogenic immunoglobulin light chains"
] | null |
fac:20536403 | Cardiomyopathy in a Japanese family with the Glu61Lys transthyretin variant: a new phenotype. | [
"We report a Japanese family with transthyretin (TTR) amyloidosis caused by ATTRGlu61Lys that was associated with progressive cardiomyopathy, peripheral neuropathy, and bilateral carpal tunnel syndrome. Amyloidotic polyneuropathy in association with ATTRGlu61Lys was previously described in a Japanese family by Shio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Japanese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"transthyretin (TTR) amyloidosis",
"Amyloidotic polyneuropathy in association with ATTRGlu61Lys",
"TTR amyloidosis with ATTRGlu61Lys",
"TTR amyloidosis",
"ATTRGlu61Lys"
] | [
"ATTRGlu61Lys"
] | [
"progressive cardiomyopathy",
"peripheral neuropathy",
"bilateral carpal tunnel syndrome",
"late-onset sensorimotor polyneuropathy",
"severe autonomic disturbance",
"cardiac involvement",
"severe cardiomyopathy"
] | null | [
"Japanese",
"Japanese",
"Japanese"
] | null | [
"carpal tunnel syndrome"
] |
fac:19079367 | Cardiac amyloidosis, a monoclonal gammopathy and a potentially misleading mutation. | [
"A 46-year-old Afro-Caribbean man presented with progressive dyspnea and recurrent syncope. Clinical examination revealed evidence of biventricular failure.",
"Electrocardiography, echocardiography, cardiac biopsy, measurement of serum levels of free light chain, scintigraphy with radiolabeled serum amyloid P com... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 46-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Cardiac acquired monoclonal immunoglobulin-light-chain amyloidosis"
] | [
"incidental presence of the amyloidogenic transthyretin Val122Ile mutation"
] | [
"progressive dyspnea",
"recurrent syncope",
"evidence of biventricular failure",
"died",
"suddenly"
] | [
"consideration of urgent cardiac transplantation and subsequent autologous stem cell transplantation"
] | [
"Afro-Caribbean"
] | null | null |
fac:18333575 | Atrioventicular block in familial amyloidosis; revisiting an old debate. | [
"Familial amyloidosis with polyneuropathy (FAP) is the rarest of the cardiac amyloidoses, with less than 200 cases diagnosed each year. In this disease, cardiac involvement is characterized by extracellular amyloid infiltration throughout the heart, usually resulting in sinoatrial nodal dysfunction, cardiomyopathy,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloidosis with polyneuropathy (FAP)\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Familial amyloidosis with polyneuropathy (FAP)",
"cardiac amyloidoses",
"FAP",
"FAP",
"FAP"
] | null | [
"cardiac involvement",
"sinoatrial nodal dysfunction",
"cardiomyopathy",
"congestive heart failure",
"cardiac conduction disturbances",
"atrial fibrillation/flutter",
"symptomatic Mobitz type two second-degree atrioventricular block",
"cardiac involvement"
] | [
"electrical cardioversion",
"dual chamber pacemaker placement",
"cardioversion"
] | null | null | [
"failing to convert to normal sinus rhythm despite medical therapy"
] |
fac:18318779 | Heart transplantation for homozygous familial transthyretin (TTR) V122I cardiac amyloidosis. | [
"Heart failure is the usual cause of death in patients with amyloid cardiomyopathy. The commonest form of hereditary cardiac amyloidosis is associated with the Val122Ile variant of transthyretin (TTR), which is carried by 3-4% of the African American population. Here, we report the outcome of the first cardiac tran... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Heart failure\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"amyloid cardiomyopathy",
"hereditary cardiac amyloidosis"
] | [
"Val122Ile variant of transthyretin (TTR)"
] | [
"Heart failure",
"death",
"biventricular failure"
] | [
"cardiac transplantation",
"cardiac transplantation"
] | [
"African American",
"Caribbean"
] | null | [
"bilateral carpel tunnel syndrome",
"no evidence of extracardiac amyloidosis",
"no evidence of allograft or systemic amyloid deposition"
] |
fac:18241340 | Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report. | [
"Hereditary amyloidodis is a rare disease process with a propensity to cause polyneuropathies, autonomic dysfunction, and restrictive cardiomyopathy. It is transmitted in an autosomal dominant manner, with disease onset usually in the 20s-40s. The most common hereditary amyloidogenic protein, transthyretin, is synt... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary amyloidodis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Hereditary amyloidodis",
"neuropathic",
"Familial Amyloidotic Polyneuropathy",
"Familial Amyloidotic Polyneuropathy",
"accelerating post-transplant restrictive cardiomyopathy",
"liver transplant induced cardiomyopathy",
"Familial Amyloidotic Polyneuropathy",
"Familial Amyloidotic Polyneuropathy"
] | [
"transmitted in an autosomal dominant manner",
"hereditary amyloidogenic protein",
"lies on Chromosome 18",
"amyloidogenic transthyretin mutations"
] | [
"polyneuropathies",
"autonomic dysfunction",
"restrictive cardiomyopathy",
"congestive heart failure",
"deterioration in cardiac function"
] | [
"orthotropic liver transplantation",
"orthotropic liver transplantation",
"transplantation"
] | [
"Irish ancestry"
] | [
"transthyretin",
"halts the synthesis of amyloidogenic transthyretin"
] | [
"no clinical history of cardiac involvement",
"without any history of cardiac symptoms"
] |
fac:17968690 | Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese. | [
"Familial transthyretin amyloidosis (ATTR), caused by mutant transthyretin deposition, is mainly characterized by peripheral neuropathy, autonomic dysfunction, and cardiomyopathy. There are few reports among the Chinese population. We previously described the TTR mutation (Val30Ala) in the first Hong Kong Chinese f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial transthyretin amyloidosis (ATTR)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Familial transthyretin amyloidosis (ATTR)",
"ATTR",
"ATTR",
"ATTR",
"ATTR"
] | [
"TTR mutation (Val30Ala)",
"alanine-to-serine substitution at amino acid 97",
"novel missense mutation of glycine-to-glutamate substitution at amino acid 67",
"mutation threonine-to-lysine at codon 59"
] | [
"peripheral neuropathy",
"autonomic dysfunction",
"cardiomyopathy",
"peripheral neuropathy",
"autonomic dysfunction",
"peripheral neuropathy",
"diastolic cardiomyopathy"
] | null | [
"Chinese",
"Hong Kong Chinese",
"Chinese",
"Chinese"
] | null | [
"symptom-free stage"
] |
fac:17968689 | A new ATTR Phe64Ile mutation with late-onset multiorgan involvement. | [
"We describe a novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile. The mutation was found in an isolated patient and it was not possible to perform a family study. The phenotype included heart and peripheral nerve involvement associated with a possible ga... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at co... | null | [
"novel transthyretin mutation in which phenylalanine is replaced with isoleucine in exon 3 at codon 64: Phe64Ile"
] | [
"heart and peripheral nerve involvement",
"gastrointestinal and renal involvement"
] | null | null | null | [
"not possible to perform a family study"
] |
fac:17968688 | Transthyretin valine-94-alanine, a novel variant associated with late-onset systemic amyloidosis with cardiac involvement. | [
"A 63-year-old Caucasian male, diagnosed with dilated cardiomyopathy in 1993, remained clinically stable for several years. In 2003, a marked increase of N-terminal pro-natriuretic peptide serum level (611 ng/ml to 4926 ng/ml) was observed; left ventricular (LV) septum thickness was 10 mm. In addition, sensorimotor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 63-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"dilated cardiomyopathy",
"transthyretin amyloidosis",
"sensorimotor polyneuropathy",
"idiopathic dilated cardiomyopathy"
] | [
"Val94Ala substitution",
"transthyretin Val94Ala mutation",
"transthyretin mutations"
] | [
"left ventricular (LV) septum thickness was 10 mm",
"sensorimotor polyneuropathy",
"autonomic dysfunction",
"Further progression of heart failure",
"autonomic dysfunction",
"gastrointestinal and cardiac involvement with amyloid",
"late onset of clinical symptoms",
"finally disabling disease course",
... | null | [
"Caucasian"
] | [
"marked increase of N-terminal pro-natriuretic peptide serum level (611 ng/ml to 4926 ng/ml)"
] | [
"remained clinically stable for several years",
"despite unchanged systolic LV function",
"Mutational search of the relatives (n = 1) was unremarkable"
] |
fac:17635579 | Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. | [
"Transthyretin amyloidosis, also known as familial amyloidotic polyneuropathy, is an autosomal dominant disorder that results from a mutation in the gene encoding plasma transthyretin (TTR). Distinct clinical presentations of the disease have been related so far to different point mutations, polyneuropathy being th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Transthyretin amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Transthyretin amyloidosis",
"familial amyloidotic polyneuropathy",
"polyneuropathy",
"familial forms of amyloidosis",
"AL amyloidosis",
"transthyretin amyloidosis",
"amyloidosis"
] | [
"autosomal dominant disorder",
"mutation in the gene encoding plasma transthyretin (TTR)",
"point mutations",
"rare A-to-T transition in exon 2 resulting in the substitution of aspartic acid by valine at position 38 (D38V)",
"rare D38V TTR mutation"
] | [
"heart failure",
"predominant polyneuropathic, cardiac and laryngeal involvement",
"predominant late-onset heart involvement",
"variable polyneuropathy"
] | [
"genetic counselling"
] | [
"Spain"
] | [
"monoclonal protein",
"plasma cell dyscrasia"
] | [
"absence of renal involvement"
] |
fac:17453626 | A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. | [
"We report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gly, in a 55-year-old man with progressive cardiomyopathy, mild peripheral neuropathy and bilateral carpal tunnel syndrome. A diagnosis of TTR-associated familial amyloidosis (ATTR) was considered after an endomyocard... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the identification of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new transthyretin (TTR) gene mutation and variant protein, Glu61Gly\n <s... | [
"TTR-associated familial amyloidosis (ATTR)"
] | [
"new transthyretin (TTR) gene mutation and variant protein, Glu61Gly",
"heterozygosity in exon 3",
"Near equal amounts of guanine (G) and adenine (A) were observed at the second base position of codon 61",
"The wild-type (GAG) and mutated (GGG) sequences found in codon 61 correspond to glutamic acid (Glu) and... | [
"progressive cardiomyopathy",
"mild peripheral neuropathy",
"bilateral carpal tunnel syndrome"
] | null | null | null | [
"no family history of amyloidosis",
"no evidence of a plasma cell dyscrasia"
] |
fac:16792551 | Severe congestive heart failure with cardiac liver cirrhosis 10 years after orthotopic liver transplantation for familial amyloidotic polyneuropathy. | [
"Reported herein is an autopsy case of familial amyloidotic polyneuropathy (FAP) with cardiac liver cirrhosis associated with amyloid cardiomyopathy after liver transplantation. At 47 years of age a Japanese woman with a transthyretin Val30Met mutation and sensorimotor polyneuropathy underwent liver transplantation... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Reported herein is an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"familial amyloidotic polyneuropathy (FAP)",
"amyloid cardiomyopathy",
"sensorimotor polyneuropathy",
"amyloid cardiomyopathy"
] | [
"transthyretin Val30Met mutation"
] | [
"cardiac liver cirrhosis",
"cardiovascular dysfunction associated with amyloid deposition",
"died",
"massive pleural and pericardial effusions",
"amyloid cardiomyopathy, especially in the right atrium and cardiac conduction system",
"liver cirrhosis with reversed lobulation",
"centrilobular hemorrhagic ... | [
"liver transplantation",
"liver transplantation",
"transplantation",
"liver transplantation",
"liver transplantation"
] | [
"Japanese"
] | [
"stopped amyloid deposition"
] | [
"no postoperative deterioration related to the graft or polyneuropathy",
"Pacemaker implantation and diuretics were ineffective against the heart failure",
"no histological evidence for chronic liver graft rejection"
] |
fac:16194875 | A Swedish family with the rare Phe33Leu transthyretin mutation. | [
"Familial amyloidotic polyneuropathy (FAP) designates TTR mutations where the phenotype is dominated by a peripheral sensory-motor polyneuropathy. The most common mutation is ATTR Val30Met. FAP in association with ATTR Phe33Leu has been described previously in two American families, one of Polish-Lithuanian descent... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloidotic polyneuropathy (FAP)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Familial amyloidotic polyneuropathy (FAP)",
"FAP",
"FAP associated with"
] | [
"TTR mutations",
"ATTR Val30Met",
"ATTR Phe33Leu",
"ATTR Phe33Leu",
"TTR Phe33Leu"
] | [
"peripheral sensory-motor polyneuropathy",
"polyneuropathy",
"carpal tunnel syndrome",
"asymptomatic",
"cardiomyopathy"
] | [
"early intervention with orthotopic liver transplantation",
"liver transplantation"
] | [
"American",
"Polish-Lithuanian descent",
"Polish-American",
"Swedish",
"northern Sweden"
] | null | null |
fac:16194874 | Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. | [
"We report two new amyloidogenic transthyretin (TTR) variants detected in the Swedish population. One variant was previously unknown, while the other has been described in a French family. In Swedish patients, both variants have caused late-onset cardiac amyloidosis characterised by heart failure. In both cases, th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two new \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n amyloidogenic transthyretin (TTR) variants\n <span style=\"font-size: 0.8em; font-weight... | [
"late-onset cardiac amyloidosis",
"TTR amyloidosis",
"systemic amyloidosis"
] | [
"amyloidogenic transthyretin (TTR) variants",
"TTR mutations",
"previously unknown mutation (ATTR His88Arg)",
"new Swedish mutation (ATTR Gly53Glu",
"ATTR Gly53Glu mutation"
] | [
"heart failure",
"increasing dyspnea",
"restrictive cardiomyopathy",
"moderate symptoms",
"increasing dyspnea",
"hypertrophic cardiomyopathy",
"diastolic impairment",
"severe intractable heart failure",
"pulmonary effusion",
"ascites",
"died",
"intractable heart and kidney failure"
] | null | [
"Swedish",
"French",
"Swedish",
"Swedish"
] | null | null |
fac:16115295 | Amyloid heart disease mimicking hypertrophic cardiomyopathy. | [
"To investigate the importance of transthyretin (TTR) gene mutations in explaining the phenotypic expression in patients diagnosed with hypertrophic cardiomyopathy (HCM) in northern Sweden.",
"Hypertrophic cardiomyopathy is relatively common and often caused by mutations in sarcomeric protein genes. Mutations in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To investigate the importance of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n transthyretin (TTR) gene mutations\n <span style=\"font-size: 0.8em; font... | [
"hypertrophic cardiomyopathy (HCM)",
"Hypertrophic cardiomyopathy",
"familial amyloid polyneuropathy (FAP)",
"amyloidosis",
"HCM",
"cardiac amyloidosis",
"HCM",
"HCM",
"HCM",
"HCM",
"cardiac amyloidosis",
"cardiac amyloidosis",
"HCM"
] | [
"transthyretin (TTR) gene mutations",
"mutations in sarcomeric protein genes",
"Mutations in the TTR gene",
"TTR gene mutation",
"mutations in eight sarcomeric protein genes",
"One mutation in the TTR gene (Val30Met)",
"Val30Met mutation"
] | [
"peripheral polyneuropathy",
"cardiac hypertrophy"
] | [
"tertiary referral centre"
] | [
"northern Sweden"
] | null | [
"Initial rectal and fat biopsies did not show amyloid deposits",
"not explained by mutations in sarcomeric protein genes"
] |
fac:15987548 | Chronic traumatic encephalopathy in a National Football League player. | [
"We present the results of the autopsy of a retired professional football player that revealed neuropathological changes consistent with long-term repetitive concussive brain injury. This case draws attention to the need for further studies in the cohort of retired National Football League players to elucidate the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the results of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"mood disorder",
"coronary atherosclerotic disease",
"coronary atherosclerotic disease",
"dilated cardiomyopathy",
"Chronic traumatic encephalopathy"
] | [
"apolipoprotein E genotype was E3/E3."
] | [
"neuropathological changes consistent with long-term repetitive concussive brain injury",
"repeated mild traumatic brain injury",
"symptoms of cognitive impairment",
"parkinsonian symptoms",
"died",
"substantia nigra",
"mild pallor with mild dropout of pigmented neurons",
"mild neuronal dropout in the... | [
"years of playing football"
] | null | null | [
"no family history of Alzheimer's disease",
"or any other head trauma outside football",
"no cortical atrophy",
"cortical contusion, hemorrhage, or infarcts",
"no neurofibrillary tangles or neuropil threads in the hippocampus or entorhinal cortex",
"Lewy bodies were absent"
] |
fac:15928500 | Pleural effusions in systemic amyloidosis. | [
"Large, recurrent pleural effusions in systemic amyloidoses are rare but clinically challenging events predominantly affecting patients with primary systemic amyloidosis. Examining the mechanisms by which these effusions form and persist offers perspective on the pathophysiology and basis for therapeutic interventi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Large, recurrent pleural effusions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"systemic amyloidoses",
"primary systemic amyloidosis",
"systemic amyloidosis",
"primary systemic amyloidosis",
"cardiomyopathy",
"pleural effusion",
"primary systemic amyloidosis cardiomyopathy",
"primary systemic amyloidosis",
"systemic amyloidosis",
"primary systemic amyloidosis",
"primary sy... | null | [
"Large, recurrent pleural effusions",
"effusions",
"pleural effusions",
"large, refractory pleural effusions",
"large, refractory pleural effusions",
"exudative effusions",
"primary disruption of the pleural surface and its function",
"amyloid",
"Large pleural effusions",
"Left atrial hypertension... | null | null | null | [
"no pleural effusions",
"Neither cardiomyopathy nor nephrotic syndrome",
"pleural effusions",
"not infiltrate the pleural surfaces or induce pleural effusions in a clinically significant fashion"
] |
fac:15793844 | A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy. | [
"We report a Chinese patient with amyloidotic polyneuropathy associated with a novel transthyretin mutation (V32A). He presented with slowly progressive sensorimotor polyneuropathy accompanied by autonomic dysfunction and cardiomyopathy by echocardiography. This mutation is likely to be associated with late onset a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Chinese\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"amyloidotic polyneuropathy"
] | [
"novel transthyretin mutation (V32A)",
"low-penetrance phenotype"
] | [
"slowly progressive sensorimotor polyneuropathy",
"autonomic dysfunction",
"cardiomyopathy"
] | null | [
"Chinese"
] | null | null |
fac:15478468 | An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy. | [
"Familial amyloidotic polyneuropathy is a rare autosomal dominant disease, with clinical symptoms beginning in most kindreds within the third to seventh decades of life. The primary defect results from one of a number of mutations in the transthyretin (TTR) gene. Over 80 mutations in the TTR gene have been describe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloidotic polyneuropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Familial amyloidotic polyneuropathy"
] | [
"rare autosomal dominant disease",
"mutations in the transthyretin (TTR) gene",
"mutations in the TTR gene",
"rare TTR missense mutation",
"T to G transversion at nucleotide 183 in the exon 2 which is predicted to cause a heterozygous valine for phenylalanine substitution at codon 33 (TTR Phe33Val)"
] | [
"adult onset progressive peripheral and autonomic neuropathy",
"subclinical cardiac amyloid and vitreous deposits",
"severe axonal sensory-motor polyneuropathy",
"restrictive cardiomyopathy",
"bilateral vitreous deposits"
] | null | [
"Macedonia"
] | null | null |
fac:15185501 | A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathy. | [
"The identification of a rare transthyretin (TTR) gene mutation (Asp18Glu) in a middle-aged male with biopsy proven amyloid disease featuring cardiomyopathy is described. The more commonly occurring light chain amyloidosis (AL) was initially considered, but negative hematologic testing prompted screening for a path... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The identification of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare transthyretin (TTR) gene mutation (Asp18Glu)\n <span style=\"font-size: 0.8em... | [
"amyloid disease",
"light chain amyloidosis (AL)",
"familial transthyretin type amyloidosis (ATTR)"
] | [
"rare transthyretin (TTR) gene mutation (Asp18Glu)",
"pathologic TTR mutation",
"atypical DNA",
"genetic abnormality",
"T to A transversion at the third base position in codon 18"
] | [
"cardiomyopathy"
] | null | null | [
"variant protein, TTR Asp18Glu, in serum"
] | [
"negative hematologic testing"
] |
fac:15185498 | Familial amyloidotic polyneuropathy with severe renal involvement in association with transthyretin Gly47Glu in Dutch, British and American-Finnish families. | [
"Familial amyloidotic polyneuropathy (FAP) is an autosomal dominant disorder associated with more than 80 different transthyretin (TTR) mutations. The clinical features of FAP are broad and variable, but knowledge of the pattern and natural history of disease associated with particular mutations nevertheless offers... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Familial amyloidotic polyneuropathy (FAP)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Familial amyloidotic polyneuropathy (FAP)",
"FAP",
"FAP",
"FAP"
] | [
"autosomal dominant disorder",
"transthyretin (TTR) mutations",
"TTR Gly47Glu",
"TTR Gly47Glu"
] | [
"amyloid cardiomyopathy",
"autonomic failure",
"moderate to severe renal failure",
"clinical deterioration was generally rapid"
] | [
"orthotopic liver transplantation",
"orthotopic liver transplantation",
"early intervention with orthotopic liver transplantation"
] | [
"Italian",
"Dutch",
"British",
"American (Finnish)"
] | null | null |
fac:12942463 | Combined heart and liver transplantation for familial amyloidotic neuropathy: considerations from the hepatic point of view. | [
"Few cases of combined heart and liver transplantation (CHLT) for familial amyloidotic polyneuropathy have been reported, and the technique for the operation is far from being consolidated. Three patients with amyloidogenic transthyretin (ATTR)-related (variant Glu89Gln to ATTR Glu89Gln) cardiomyopathy underwent CH... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Few cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n combined heart and liver transplantation (CHLT)\n <span style=\"font-size: 0.8em; font-weight... | [
"familial amyloidotic polyneuropathy",
"amyloidogenic transthyretin (ATTR)-related (variant Glu89Gln to ATTR Glu89Gln) cardiomyopathy",
"ATTR Glu89Gln"
] | null | [
"peripheral neuropathy",
"gastrointestinal motility alterations",
"high-grade orthostatic hypotension",
"postoperative bleeding",
"renal failure",
"sepsis",
"heart failure",
"died",
"multiorgan failure",
"intestinal ischemia",
"extracardiac symptoms of amyloidosis gradually worsened",
"postope... | [
"combined heart and liver transplantation (CHLT)",
"CHLT",
"cardiac and sequential hepatic transplantation using the piggyback technique with organs procured from the same donor",
"Venovenous bypass (VVB)",
"CHLT",
"transplantation",
"right hemicolectomy",
"CHLT",
"VVB"
] | null | null | [
"no serious involvement of other organs",
"cardiac performance remained normal",
"no progression of amyloidosis",
"no intraoperative complications",
"without significant hemodynamic perturbations"
] |
fac:12787390 | Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. | [
"Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg.",
"Mutations in the gene for apolipoprotein AII (apoAII) have recently been found to cause hereditary renal amyloidosis. In each case amyloid deposition has been associated with a peptide extension at the carb... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary systemic amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Hereditary systemic amyloidosis",
"hereditary renal amyloidosis",
"amyloidosis",
"amyloid cardiomyopathy",
"renal amyloid"
] | [
"associated with a new apolipoprotein AII stop codon mutation Stop78Arg.",
"Mutations in the gene for apolipoprotein AII (apoAII)",
"mutations in the normal stop codon",
"T to C transition at the first position of the stop codon indicating replacement of the stop codon by l-arginine (Arg) at residue 78",
"p... | [
"progressive renal dysfunction",
"mild intraventricular septal thickness"
] | null | [
"Caucasian"
] | [
"anti-apoAII",
"variant apoAII"
] | null |
fac:12762140 | First Spanish family with familial amyloidotic polyneuropathy associated to TTR Thr49Ile mutation. | [
"We present a Spanish patient with familial amyloidotic polyneuropathy associated with the TTR Thr49Ile mutation previously described in a Japanese patient. This is the first report in a Caucasian patient and the second in the literature. Age of onset at 66 and the clinical picture were similar to the Japanese pati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Spanish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"familial amyloidotic polyneuropathy"
] | [
"TTR Thr49Ile mutation"
] | [
"sensorimotor polyneuropathy",
"digestive autonomic disturbances",
"cardiomyopathy",
"loss of weight"
] | null | [
"Spanish",
"Japanese",
"Caucasian",
"Japanese"
] | null | null |
fac:12762138 | Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome. | [
"A 61-year-old Japanese woman with transthyretin amyloid (ATTR) Tyr69Ile, which was caused by the mutation of TTR gene TAC to ATC at codon 69, is described. The patient had no family history and developed carpal tunnel syndrome followed by congestive heart failure due to cardiac amyloidosis. Various phenotypes of f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 61-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"transthyretin amyloid (ATTR) Tyr69Ile",
"cardiac amyloidosis",
"familial transthyretin amyloidosis",
"FAP"
] | [
"mutation of TTR gene TAC to ATC at codon 69",
"TTR variants with single amino-acid substitutions",
"one-point mutations in the coding region of the TTR gene",
"novel double-nucleotide substitution in the causative TTR gene abnormality"
] | [
"carpal tunnel syndrome",
"congestive heart failure"
] | null | [
"Japanese"
] | null | [
"no family history"
] |
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