Genetic Biomarkers in Brugada Syndrome

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.

KEYWORDS::

• biomarker
• Brugada syndrome
• genetic testing
• genetics
• management

Financial & competing interests disclosure

A Li receives fellowship support from St Jude Medical; MM Saba receives funding from St Jude Medical; ER Behr receives research funding from St Jude Medical, Biotronik, Boston Scientific and the International Serious Adverse Event Consortium (iSAEC). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Additional information

Funding

A Li receives fellowship support from St Jude Medical; MM Saba receives funding from St Jude Medical; ER Behr receives research funding from St Jude Medical, Biotronik, Boston Scientific and the International Serious Adverse Event Consortium (iSAEC). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.