Clinical characteristics and determinants of the 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 nondesmosomal 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 whether the disease is influenced by genetic or environmental factors.

Source: Heart Rhythm - February 12, 2020 Category: Cardiology Authors: Fernando Dominguez, Esther Zorio, Juan Jimenez-Jaimez, Rafael Salguero-Bodes, Robert Zwart, Esther Gonzalez-Lopez, Pilar Molina, Francisco Berm údez-Jiménez, Juan F. Delgado, Aitana Braza-Boïls, Belen Bornstein, Jorge Toquero, Javier Segovia, J. Peter Source Type: research