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: 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 V Source Type: research
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