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A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill



A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill



Journal of Internal Medicine 255(1): 137-142



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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Accession: 011676667

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DOI: 10.1046/j.0954-6820.2003.01247.x


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