[Brugada syndrome: diagnosis and risk stratification]

Abstract

Brugada syndrome is a genetic disease, leading to a functional reduction in sodium channel current. This anomaly occurs in the absence of other demonstrable cardiac anomalies. The ECG diagnostic pattern is characterized by coved ST-segment elevation in V1-V3 leads. Brugada syndrome may be complicated by malignant ventricular arrhythmias and sudden death. Risk stratification in individuals with type 1 Brugada ECG pattern for primary prevention of sudden death is an unsolved issue. Recognized risk factors for sudden death are spontaneous type 1 ECG pattern, syncope, or documented cardiac arrest. Family history of sudden death is a controversial risk factor. However, all these factors have a low positive predictive value. The prognostic significance of electrophysiological study (EPS) is debated. There is a consensus about the low predictive value of a positive EPS and a low specificity. However, while some authors deny at all its usefulness, others suggest that EPS is useful when considered together with other clinical risk factors. According to Brugada brothers our personal data suggest that (i) in subjects with type 1 Brugada ECG no single clinical risk factor nor EPS alone are able to identify subjects at the highest risk; (ii) a multiparametric approach (including syncope, family history of sudden death and positive EPS) helps to identify populations at the highest risk; (iii) subjects at the highest risk are those with a spontaneous type 1 ECG and at least two risk factors; (iv) the remaining are at low risk.