Genetic Basis of Brugada SyndromeCampuzano O, Allegue C, Iglesias A and Brugada R*
Cardiovascular Genetics Center, School of Medicine, University of Girona-IDIBGI, Girona, Spain
- *Corresponding Author:
- Ramon Brugada
Director Medical School, University of Girona
Director Cardiovascular, Genetics Center, University of Girona-IDIBGI
C/Pic de Peguera 11, 17003 Girona (Spain)
Tel: +34 972 183366
Fax: +34 972 183367
E-mail: [email protected]
Received date: July 22, 2013; Accepted date:August 06, 2013; Published date: August 08, 2013
Citation: Campuzano O, Allegue C, Iglesias A, Brugada R (2013) Genetic Basis of Brugada Syndrome. J Genet Syndr Gene Ther 4:167. doi:10.4172/2157-7412.1000167
Copyright: © 2013 Campuzano O, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Brugada syndrome is a rare cardiac disorder described as a clinical entity in 1992. It is characterized by typical electrocardiographic alteration in a structurally normal heart, and associated with a high risk of sudden cardiac death. Brugada syndrome affects mainly young adult males and patients can present a wide range of symptoms or even remain asymptomatic. The first genetic basis responsible for the syndrome was described in 1998 in SCN5A. Since then, several pathogenic mutations have been identified in 16 genes, encoding mainly subunits of cardiac sodium, potassium, and calcium channels, or genes involved in the trafficking/regulation of these channels. All these genes together are responsible for 35% of total cases, remaining 2/3 parts of Brugada syndrome cases without genetic cause identified. In this review, we focus on recent advances in genetics of Brugada Syndrome.