Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.

ABSTRACT:

Background

Brugada syndrome (BrS) is an inherited primary channelopathy syndrome associated with the risk of ventricular fibrillation (VF) and sudden cardiac death in a structurally normal heart.

Aim of the study

The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant Brugada syndrome.

Methods

Clinical and genetic studies were performed. Genetic analysis was conducted with NGS technologies (WES) using the Illumina instrument. According to the standard procedure, variants found by WES were confirmed in all available families by Sanger sequencing. The effect of the variants was studied by using in silico prediction of pathogenicity.

Results

The proband was a 52-year-old man who was admitted to the emergency d

SUBMITTER: d'Apolito M 

PROVIDER: S-EPMC11275647 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature