Long QT syndrome with nocturnal cardiac events caused by a KCNH2 missense mutation (G604S)

Intern Med. 2012;51(14):1857-60. doi: 10.2169/internalmedicine.51.7494. Epub 2012 Jul 15.

Abstract

An 8-year-old boy suffered from an unconsciousness attack and torsade de pointes arrhythmia during sleep or at rest. His electrocardiogram showed prolonged QT intervals, but the T wave morphology was atypical for type 1, 2 or 3 congenital long-QT syndrome (LQTS). Intravenous epinephrine slightly prolonged the QT interval whereas mexiletine infusion shortened the QT interval. Although these clinical characteristics might suggest type 3 LQTS, a genetic analysis identified the G604S-KCNH2 mutation (type 2 LQTS). Because mismatches between the genotype and phenotype of LQTS are possible, genetic analysis of LQTS is important to identify the most appropriate therapeutic option and risk stratification.

Publication types

  • Case Reports

MeSH terms

  • Child
  • ERG1 Potassium Channel
  • Electrocardiography
  • Epinephrine
  • Ether-A-Go-Go Potassium Channels / genetics*
  • Genetic Association Studies
  • Heterozygote
  • Humans
  • Long QT Syndrome / complications
  • Long QT Syndrome / diagnosis
  • Long QT Syndrome / genetics*
  • Long QT Syndrome / physiopathology
  • Male
  • Mexiletine
  • Mutation, Missense*
  • Sleep
  • Torsades de Pointes / etiology
  • Torsades de Pointes / genetics
  • Torsades de Pointes / physiopathology

Substances

  • ERG1 Potassium Channel
  • Ether-A-Go-Go Potassium Channels
  • KCNH2 protein, human
  • Mexiletine
  • Epinephrine

Supplementary concepts

  • Long Qt Syndrome 2