The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients

摘要

Brugada syndrome (BrS) is an inherited arrhythmia syndrome with an increased risk of sudden death, resulting from polymorphic ventricular tachycardia and/or ventricular fibrillation in the absence of gross structural abnormalities. BrS is characterized by right bundle branch block and ST-segment elevation in the right precordial ECG leads. The incidence of clinical events, syncope and sudden cardiac death, depends on ethnicity, with a higher rate of sudden death in patients of Asian origin. Mutations in the SCN5A gene, which encodes the pore-forming subunit of the cardiac voltage-gated sodium channel, are found in about 20% of BrS patients in Caucasian population. This study aims to examine the mutation spectrum of SCN5A in Singapore BrS patients.