title: Severe heart disease in an unusual case of familial amyloid polyneuropathy type I.
abstract: 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, cardiomyopathy and dysautonomia) indicate a poor prognosis, even after liver transplantation. We report an atypical case of FAP type I, highlighting the severe cardiac involvement and its complications. Early diagnosis of amyloid heart disease is increasingly important in the context of several clinical trials of promising new and experimental drugs.
authors.affiliation: Faculdade de Medicina da Universidade de Lisboa, Centro de Cardiologia da Universidade de Lisboa (CCUL), Lisboa, Portugal. Electronic address: migueloliveirasantos@hotmail.com.
authors.forename: Miguel
authors.initials: M
authors.lastname: Oliveira Santos
authors.forename: Dulce
authors.initials: D
authors.lastname: Brito
mesh_terms: D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000150:complications*; D005260:Female; D006331:Heart Diseases / Q000209:etiology*; D006801:Humans; D012720:Severity of Illness Index
keywords: Cardiomyopathy; Conduction disturbances; Disautonomia; Disritmia; Dysautonomia; Dysrhythmia; Familial amyloid polyneuropathy type I; Miocardiopatia; Perturbações da condução; Polineuropatia amiloidótica familiar tipo-I