Clinical characteristics and determinants of phenotype in TMEM43 Arrhythmogenic right ventricular cardiomyopathy type 5.

Arrhythmogenic right ventricular cardiomyopathy type V (ARVC-5) is the most aggressive heterozygous form of ARVC. It is predominantly caused by a fully penetrant mutation (p.S358L) in the non-desmosomal gene TMEM43 – endemic to Newfoundland, Canada. To date, all familial cases reported worldwide share a common ancestral haplotype. It is unknown whether the p.S358L mutation by itself causes ARVC-5 or if the disease is influenced by genetic or environmental factors.
Source: Heart Rhythm - Category: Cardiology Authors: Source Type: research