Brugada syndrome: current diagnostics, epidemiology, genetic data and novel mechanisms (RCD code: V‑1A.1)

Paweł Tomasz Matusik, Joanna Pudło, Anna Rydlewska, Jakub Podolec, Jacek Lelakowski, Piotr Podolec

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Brugada syndrome (BrS) is a cardiac channelopathy associated with ventricular arrhythmias and sudden cardiac death. Diagnosis of BrS is based on type 1 BrS electrocardiogram (ECG) pattern (coved pattern) presence, observed spontaneously or after provocation test. The worldwide prevalence of BrS ECG patterns is estimated to reach 0.4% and strongly depends on the population studied. BrS results from various genetic mutations of sodium, calcium and potassium channels and/or associated proteins affecting ion currents. SCN5A mutations are the most prevalent in BrS. Pathogenesis of BrS is explained by the depolarization theory, the repolarization theory and the neural crest theory, which seem to be complimentary, at least partially. This review summarizes current diagnostic criteria of BrS and epidemiology of BrS ECG patterns. We also discuss the recent understanding of BrS pathophysiology and the role of genetic testing in BrS. JRCD 2017; 3 (3): 73–80.


Brugada syndrome; diagnostics; epidemiology; genetic testing; mechanisms; rare disease


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