Brugada Syndrome

Abstract

Brugada syndrome was firstly reported in 1992 as a familial entity characterized by ST-segment elevation in the right precordial leads in a structurally normal heart, leading to ventricular fibrillation and risk of sudden cardiac death. Currently, clinical diagnosis is based on a characteristic pattern in the electrocardiogram observed either spontaneously or induced during a pharmacological test. The prevalence varies among regions and ethnicities, affecting mostly adult males. The cause of the disease is a genetic alteration being SCN5A the main responsible gene. Several genes have been associated with the disease despite that, after a comprehensive genetic analysis, genetic alteration is identified only in nearly 35% of families. The main challenges are the management of patients and risk stratification, especially in asymptomatic individuals. The most effective therapy is an implantable cardiac defibrillator, while radiofrequency ablation has been recently reported as a potential new treatment. In 2016, a scoring system for diagnosis and risk stratification was proposed. This included electrocardiographic alterations, clinical findings, genetic basis, and family history.