Genetic biomarkers in Brugada syndrome. (August 2013)

• Record Type: Journal Article
• Authors: Li, Anthony; Saba, Magdi M; Behr, Elijah R
• Is Part Of: Biomarkers in medicine. Volume 7:Number 4(2013)
• Page Start: 535
• Page End: 546
• Publication Date: 2013-08
• Subjects: biomarker -- Brugada syndrome -- genetic testing -- genetics -- management; Biochemical markers -- Periodicals; 610.28
• DOI: 10.2217/bmm.13.78
• Languages: English
• ISSNs: 1752-0363

Abstract

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.