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

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.

journal_name

J Intern Med

authors

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

doi

10.1046/j.0954-6820.2003.01247.x

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

137-42

issue

1

eissn

0954-6820

issn

1365-2796

pii

1247

journal_volume

255

pub_type

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