Severe heart disease in an unusual case of familial amyloid polyneuropathy type I
作者： Miguel Oliveira Santos , Dulce Brito
DOI: 10.1016/J.REPC.2013.02.011
关键词: Context (language use) 、 Dysautonomia 、 Clinical trial 、 Liver transplantation 、 Transthyretin 、 Pathology 、 Genetic heterogeneity 、 Heart disease 、 Cardiomyopathy 、 Medicine
摘要: Familial amyloid polyneuropathy type I (FAP I) is a rare hereditary systemic amyloidosis caused by the Val30Met mutation in transthyretin (TTR) gene. The clinical onset and spectrum are variable depend on phenotypic heterogeneity. Cardiac complications (dysrhythmias conduction disturbances, cardiomyopathy dysautonomia) indicate poor prognosis, even after liver transplantation. We report an atypical case of FAP I, highlighting severe cardiac involvement its complications. Early diagnosis heart disease increasingly important context several trials promising new experimental drugs.
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