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

J Intern Med. 2004 Jan;255(1):137-42. doi: 10.1046/j.0954-6820.2003.01247.x.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Electrocardiography
  • Female
  • Heart / physiopathology*
  • Heart Atria / physiopathology
  • Heart Function Tests / methods
  • Humans
  • Mutation, Missense / genetics
  • Myocardium / metabolism*
  • NAV1.5 Voltage-Gated Sodium Channel
  • Polymerase Chain Reaction
  • Sodium Channels / genetics*
  • Syndrome
  • Ventricular Fibrillation / genetics*
  • Ventricular Fibrillation / metabolism
  • Ventricular Fibrillation / physiopathology

Substances

  • NAV1.5 Voltage-Gated Sodium Channel
  • SCN5A protein, human
  • Sodium Channels