Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia.

ABSTRACT:

Background

Primary electrical disorders (PEDs) are a group of cardiac rhythm abnormalities that occur in the absence of detectable structural heart disease and are a significant cause of sudden cardiac death (SCD). The initiation of cardiac muscle contraction and relaxation is orchestrated by the action potential (AP), generated through ionic changes across the membrane. Mutations in the AP-related gene CACNA2D1 have been identified as a causative factor for PED.

Methods

We recruited a Chinese family with a history of arrhythmia. The proband has experienced palpitations and chest tightness for over 40 years, with symptoms worsening over the past year. Whole exome sequencing (WES) was used to determine the genetic etiologies in this family.

Results

A novel heterozygous

SUBMITTER: Wang Q 

PROVIDER: S-EPMC11443683 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature