Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death.

ABSTRACT:

Background

Juvenile sudden cardiac death (SCD) remains unexplained in approximately 40% of cases, leading to a significant emotional burden for the victims' families and society. Comprehensive investigations are essential to uncover its elusive causes and enable cascade family screening. This study aimed to enhance the identification of likely causative variants in juvenile SCD cases (age ≤ 50 years), particularly when autopsy findings are inconclusive.

Results

Autopsy revealed diagnostic structural abnormalities in 46%, non-diagnostic findings in 23%, and structurally normal hearts in 31% of cases. Whole-exome sequencing (WES), refined through a customized virtual gene panel was used to identify variants. These variants were then evaluated using a multidisciplinary approach

SUBMITTER: Modena M 

PROVIDER: S-EPMC11407015 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature