Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene

Pediatr Cardiol. 2003 Jan-Feb;24(1):70-2. doi: 10.1007/s00246-002-0169-5.

Abstract

Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS. However, the genotype of this disorder is not well-known. We report an infant with LQTS and 2:1 AVB with a mutation of the SCN5A gene (LQT3). In some patients with LQTS and 2:1 AVB, the disorder may be due to mutation of the SCN5A gene (LQT3).

Publication types

  • Case Reports

MeSH terms

  • Electrocardiography
  • Female
  • Genetic Predisposition to Disease / genetics
  • Heart Block / congenital*
  • Heart Block / genetics*
  • Humans
  • Infant, Newborn
  • Long QT Syndrome / congenital*
  • Long QT Syndrome / genetics*
  • Mutation, Missense / genetics*
  • NAV1.5 Voltage-Gated Sodium Channel
  • Sodium Channels / genetics*

Substances

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