Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

Brugada syndrome (BrS) is a rare inherited cardiac disorder with a structurally normal heart.1 The disease is associated with a severe outcome including syncope, cardiac arrest, and sudden cardiac death despite low penetrance and variable expressivity.2 Electrocardiogram (ECG) characteristics of BrS are divided into 3 different types. Only type 1, with a prominent coved ST-segment elevation of ≥2 mm followed by a negative T wave in the right precordial leads (V1–V3), is diagnostic for BrS. Type 2 and 3 patterns demonstrate an ST-segment elevation of 2 mm and 1 mm, respectively, followed by a descending ST slope and a positive T wave, thereby forming a saddleback configuration.