La sindrome di Brugada: epidemiologia, stratificazione del rischio e management clinico.

Brugada syndrome is an arrhythmogenic disease, characterized by syncope and sudden cardiac death, with a typical electrocardiographic pattern: right bundle branch block and ST segment elevation in the right precordial leads. Only recently, the first gene causing Brugada syndrome has been demonstrated by the identification of mutations in SCN5A, the gene encoding for the cardiac sodium channel, also responsible for the LQT3 subtype of long QT syndrome. Despite the knowledge on Brugada syndrome has dramatically improved in the recent years, the clinical management is still often empirical and limited by the lack of pharmacological therapies. Therefore, the implantable cardioverter-defibrillator (ICD) is the only life-saving option for high-risk patients. However, life-long implant in young individuals may have a major impact on the quality of life and it is not free from complications. Therefore, the identification of a robust risk stratification algorithm is of outmost importance to limit the use of ICD to the higher risk individuals. Programmed electrical stimulation has been proposed but this approach appears to have a low positive predictive value, thus leading to implants in many asymptomatic patients. Recently, we analyzed data from 200 Brugada syndrome patients, one of the largest groups so far reported, and we showed that the best predictor of cardiac events is the presence of a spontaneous abnormal ECG pattern associated with history of syncope. In the present article we will review the clinical characteristic of Brugada syndrome and point out a possible risk stratification scheme.