Transthyretin-related familial amyloid cardiomyopathy (Q90631): Difference between revisions
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A cardiomiopatia amiloide familiar relacionada à transtirretina (TTR) é uma amiloidose sistêmica hereditária relacionada à TTR com envolvimento cardíaco predominante resultante da infiltração miocárdica de proteína amiloide anormal (uma proteína fibrilar insolúvel). Informações adicionais: o gene TTR no cromossomo 18q12.1 abrange mais de 100 polimorfismos de nucleotídeo único com mais de 80 mutações patogênicas autossômicas dominantes confirmadas e grupos geográficos e / ou étnicos. O fenótipo clínico varia muito com a mutação, idade de início, penetrância da doença, curso clínico e prognóstico. As manifestações extracardíacas incluem neuropatia sensorial, disfunção autonômica e síndrome do túnel do carpo. | |||
| description / en | description / en | ||
Transthyretin (TTR)-related familial amyloid cardiomyopathy is a hereditary TTR-related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein (an insoluble fibrillar protein). Additional information. The TTR gene on chromosome 18q12.1 encompasses over 100 single nucleotide polymorphisms with over 80 confirmed pathogenic autosomal dominant mutations and geographic and-or ethnic groupings. The clinical phenotype varies greatly with the mutation, the age of onset, disease penetrance, clinical course, and prognosis. Extracardiac manifestations include sensory neuropathy, autonomic dysfunction, and carpal tunnel syndrome. | |||
Revision as of 17:37, 15 August 2026
Transthyretin (TTR)-related familial amyloid cardiomyopathy is a hereditary TTR-related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein (an insoluble fibrillar protein). Additional information. The TTR gene on chromosome 18q12.1 encompasses over 100 single nucleotide polymorphisms with over 80 confirmed pathogenic autosomal dominant mutations and geographic and-or ethnic groupings. The clinical phenotype varies greatly with the mutation, the age of onset, disease penetrance, clinical course, and prognosis. Extracardiac manifestations include sensory neuropathy, autonomic dysfunction, and carpal tunnel syndrome.
| Language | Label | Description | Also known as |
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| default for all languages | ID_821512398 |
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| English | Transthyretin-related familial amyloid cardiomyopathy |
Transthyretin (TTR)-related familial amyloid cardiomyopathy is a hereditary TTR-related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein (an insoluble fibrillar protein). Additional information. The TTR gene on chromosome 18q12.1 encompasses over 100 single nucleotide polymorphisms with over 80 confirmed pathogenic autosomal dominant mutations and geographic and-or ethnic groupings. The clinical phenotype varies greatly with the mutation, the age of onset, disease penetrance, clinical course, and prognosis. Extracardiac manifestations include sensory neuropathy, autonomic dysfunction, and carpal tunnel syndrome. |
