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

ABSTRACT:

Aims

The early repolarization syndrome (ERS) can cause ventricular fibrillation (VF) and sudden death in young, otherwise 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.

Methods and results

Early repolarization syndrome was diagnosed according to the recently proposed Shanghai ERS Score. After sequencing of known ERS candidate genes, whole-exome sequencing (WES) was performed. The index patient (23 years, female) showed a dynamic inferolateral early repolarization (ER) pattern and electrical storm with intractable VF. Isoproterenol enabled successful termination of electrical storm with

SUBMITTER: Steinfurt J 

PROVIDER: S-EPMC8139820 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature