SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of Na(V)1.5 channel

摘要

BACKGROUND Brugada syndrome (BrS) is an inherited lethal arrhythmic disorder characterized by syncope and sudden cardiac death from ventricular tachyarrhythmias. Here we identified a novel K817E mutation of SCN5A gene in a man with type 1 BrS electrocardiogram pattern using next-generation sequencing targeted for 73 cardiac disorder-related genes. SCN5A encodes the a-subunit of Na(V)1.5 voltage-gated Na+ channel, and some of its mutations are linked to BrS. The proband had no mutation in any of the other arrhythmia-related genes sequenced.