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Updated: May 8, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Severe heart disease in an unusual case of familial amyloid polyneuropathy type I
Miguel Oliveira Santos1, Dulce Brito
1Faculdade de Medicina da Universidade de Lisboa, Centro de Cardiologia da Universidade de Lisboa (CCUL), Lisboa, Portugal.
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.
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