Referenced in: none

Automatically associated channels: Nav1.5

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

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

Journal, date & volume: J. Intern. Med., 2004 Jan , 255, 137-42

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/14687250

Abstract
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.