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Transcript
1636, poster, cat. 1 ONE GENE, TWO DISEASES: SCN5A AND ITS ROLE IN LONG QT AND BRUGADA SYNDROMES J.L. Neo, P.L. Chong, S.H. Yap, L.S.H. Gan, Y.Y. Yong, M. Uttamchandani DSO National Laboratories, Singapore, Singapore Sudden cardiac death (SCD) is one of the leading causes of mortality globally and accounted for 24.1% of deaths in Singapore in 2008. Cardiac arrhythmias such as the Long QT (LQTS) and Brugada syndrome cause deaths in young individuals with structurally normal hearts. Cardiac arrhythmias include the long-QT syndrome (LQTS), the Brugada syndrome (BrS), the short-QT syndrome (SQTS) and the catecholaminergic polymorphic ventricular tachycardia (CPVT). Mutations in ion transporter genes have been associated with several of the cardiac arrhythmias. Amongst the genes, SCN5a (alpha subunit of the cardiac sodium channel) is of particular interest due to its association to both Long QT and Brugada syndrome. The patterns of mutations in this gene appear to vary significantly across the different populations. Herein, we provide an overview on the genetic variations of SCN5a on the inherited arrhythmogenic diseases.