Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing

摘要

Aims The early repolarization syndrome (ERS) can cause ventricular fibrillation (VF) and sudden death in young, other- wise healthy individuals. There are limited data suggesting that ERS might be heritable. The aim of this study was to characterize the clinical phenotype and to identify a causal variant in an affected family using an exome-sequencing approach.