This study characterizes the cardiac phenotype and clinical outcomes of the TTR Thr60Ala (T60A) variant, the most common cause of familial amyloid polyneuropathy in the UK.
Familial amyloid polyneuropathy (FAP) is a dominantly inherited multi-system disease associated with transthyretin (TTR) mutations. Previous series have predominantly described patients with the TTR variant Val30Met (V30M), which is the most prevalent cause of FAP worldwide. Here, we report the dominant cardiac phenotype and outcome of FAP associated with TTR Thr60Ala (T60A), the most common UK variant.
Sattianayagam et al. (Tue,) studied this question.