Key result
Pathogenic mutations in 16 genes, mainly encoding cardiac channel subunits or their regulators, are responsible for 35% of Brugada syndrome cases, leaving two-thirds without an identified genetic cause.
Despite the identification of mutations in 16 genes, the genetic basis remains unknown for approximately two-thirds of Brugada syndrome cases.
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Underscores incomplete genetic understanding of Brugada syndrome; leaves open identification of remaining causes and limits diagnostic yield of testing.
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.
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Óscar Campuzano (2013) conducted a review in Brugada syndrome. Genetic mutations was evaluated. Pathogenic mutations in 16 genes, mainly encoding cardiac channel subunits or their regulators, are responsible for 35% of Brugada syndrome cases, leaving two-thirds without an identified genetic cause.
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