A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death

Brugada Syndrome (BrS) is a primary arrhythmia syndrome affecting 1 in 2000 of the general population. Genetic testing identifies pathogenic variants in the sodium voltage-gated channel α-subunit 5 gene (SCN5A) in up to 25% of familial BrS. Balanced translocations, which involve the exchange of the ends of two different chromosomes, are found in approximately 1 in 500 people and are usually benign, and only rarely reported to cause arrhythmogenic disorders.

Source: Heart Rhythm - August 28, 2018 Category: Cardiology Authors: Laura Yeates, Jodie Ingles, Belinda Gray, Suresh Singarayar, Raymond W. Sy, Christopher Semsarian, Richard D. Bagnall Source Type: research