Transthyretin-related familial amyloid cardiomyopathy (Q90631)

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.