This review summarizes current knowledge on the genetics of Brugada syndrome, particularly SCN5A mutations, and their utility as biomarkers for diagnosis, prognosis, and treatment.
Extensive SCN5A heterogeneity in Brugada syndrome warrants cautious genetic testing interpretation; leaves open validated biomarker panels for routine use.
Brugada syndrome is an inherited arrhythmia syndrome predisposing to sudden cardiac death. Six years after its initial description as a clinical entity, the first mutations in SCN5A encoding the cardiac sodium channel Nav1.5 were reported. Over 300 mutations in SCN5A have since been described in addition to mutations in genes encoding Nav1.5 auxiliary units, potassium and calcium channels. This review summarizes the current knowledge on the genetics of Brugada syndrome, focusing on SCN5A, and discusses its use as a biomarker for diagnosis, prognosis and treatment.
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Li et al. (2013) studied this question.
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