Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy.

ABSTRACT:

Background

Hereditary cardiac arrhythmias result from mutations in various genes encoding ion channels. One major channelopathy is long QT syndrome, which has excel- lent genetic and clinical heterogeneity. Arrhythmogenic right ventricular cardiomyopa- thy, another hereditary arrhythmia type, also shows high genetic heterogeneity and variable expressivity. Next-generation sequencing is an effective tool to reveal the dis- ease's underlying genetic etiology.

Methods

In this study, we performed clinical exome sequencing or gene panel including cardiac arrhythmia and cardiomyopathy-associated genes by next-generation sequenc-ing in 13 unrelated patients.

Results

Five pathogenic or likely pathogenic mutations, including three novel mutations, were found in the total cases

SUBMITTER: Saat H 

PROVIDER: S-EPMC9361120 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature