Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

ABSTRACT:

Background

Brugada syndrome (BrS) is a rare genetic cardiac arrhythmia that can lead to sudden cardiac death in patients with a structurally normal heart. Genetic variations in SCN5A can be identified in approximately 20-25% of BrS cases. The aim of our work was to determine the spectrum and prevalence of genetic variations in a Spanish cohort diagnosed with BrS.

Methodology/principal findings

We directly sequenced fourteen genes reported to be associated with BrS in 55 unrelated patients clinically diagnosed. Our genetic screening allowed the identification of 61 genetic variants. Of them, 20 potentially pathogenic variations were found in 18 of the 55 patients (32.7% of the patients, 83.3% males). Nineteen of them were located in SCN5A, and had either been previously repor

SUBMITTER: Selga E 

PROVIDER: S-EPMC4501715 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature