A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome

Cardiol Young. 2012 Jun;22(3):360-3. doi: 10.1017/S1047951111001831. Epub 2011 Nov 9.

Abstract

A 12-year-old girl presented with a first prolonged syncope. She was successfully resuscitated by external defibrillation after recording torsade de pointes tachycardia. Repeated electrocardiograms and a 12-channel Holter monitoring showed an intermittent prolongation of the QT interval. Genetic analysis identified a heterozygous point mutation in the KCNH2 gene, which is thought to be associated with a rather mild clinical phenotype of the long QT syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Ether-A-Go-Go Potassium Channels / genetics*
  • Female
  • Heterozygote
  • Humans
  • KCNQ1 Potassium Channel / genetics*
  • Long QT Syndrome / genetics*
  • Phenotype
  • Point Mutation
  • Syncope / etiology
  • Torsades de Pointes / genetics*

Substances

  • Ether-A-Go-Go Potassium Channels
  • KCNQ1 Potassium Channel