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XB-ART-4238
J Intern Med 2004 Jan 01;2551:137-42. doi: 10.1046/j.0954-6820.2003.01247.x.
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A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill.

Takehara N , Makita N , Kawabe J , Sato N , Kawamura Y , Kitabatake A , Kikuchi K .


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Mutations in the cardiac Na+ channel gene SCN5A are responsible for multiple lethal ventricular arrhythmias including Brugada syndrome and congenital long QT syndrome. Here we report a case of Brugada syndrome with ST elevation in the right precordial and inferior leads accompanied by atrial standstill and spontaneous ventricular fibrillation. Atrial standstill and J wave elevation were provoked by procainamide. Genetic analysis revealed a missense mutation (R367H) in SCN5A. The resultant mutant Na+ channel was nonfunctional when expressed heterologously in Xenopus oocytes. Our study suggests that genetic defects in SCN5A may be associated with atrial standstill in combination with ventricular arrhythmias.

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Species referenced: Xenopus
Genes referenced: scn5a