Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy.

ABSTRACT:

Aims

Arrhythmogenic right-ventricular cardiomyopathy (ARVC) is a genetically determined disorder, mostly caused by mutations in genes encoding desmosomal proteins. We evaluated phenotype/genotype characteristics to predict the risk for the first major arrhythmic event in desmosomal-mutation-associated ARVC families.

Methods and results

A cohort of 105 desmosomal-mutation carriers belonging to 39 consecutive ARVC families was evaluated. Serial clinical work-up consisting of history, physical examination, 12-lead/signal-averaged/24 h ambulatory ECG, and two-dimensional echocardiography was performed every 6-12 months. The predictive value of gender and genotype for the first major arrhythmic event was investigated within the cohort using time-to-event analysis. ECG/echocardiog

SUBMITTER: Protonotarios A 

PROVIDER: S-EPMC5841562 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature