The Brugada Syndrome - From Gene to Therapy.

Abstract

It is almost a quarter of century that a pioneering work of 2 researchers named Brugada brought the entire scientific community to understanding the molecular, clinical, and electrophysiological aspects of a distinctive syndrome. It affects mainly young adults with syncope and/or sudden cardiac death caused by polymorphic ventricular tachycardia or ventricular fibrillation in the absence of any sign of cardiac degeneration or alteration. Although the involvement of the epicardial layer of the right ventricular outflow tract, and the requirement of pharmacologic challenge for unveiling concealed forms, have been fully characterized, many areas of uncertainties remain to be elucidated, such as the unpredictable usefulness of programmed ventricular stimulation, the role of radiofrequency catheter ablation for reducing ST-segment elevation, and the value of risk stratification in patients diagnosed with upper displacement of right precordial leads. How much Brugada syndrome is an intense field of research is witnessed by 4 different consensus committees that took place in a relatively short period of time considering the recent discovery of this intricate arrhythmogenic disease. The main focus of this review is to describe the milestones in Brugada syndrome from its first phenotypic and genotypic appraisals to recent achievements in electrical therapies proposed for the management of this fascinating rhythm disturbance that, despite new diagnostic and therapeutic learnings, still predisposes to sudden cardiac death.