KCNJ2 variant of unknown significance reclassified as long QT syndrome causing ventricular fibrillation

Can J Cardiol. 2011 Nov-Dec;27(6):870.e11-3. doi: 10.1016/j.cjca.2011.05.004. Epub 2011 Aug 27.

Abstract

KCNJ2 is the only gene implicated in Andersen-Tawil syndrome. Sudden cardiac arrest is rare in Andersen-Tawil syndrome. However, sudden cardiac arrest is often the index presentation in other forms of long QT syndrome. We present an unreported variant in the KCNJ2 gene, associated with long QT syndrome, that presented with ventricular fibrillation. Exercise testing and adrenaline infusion were useful in assigning pathogenicity to this variant of unknown significance.

Publication types

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

MeSH terms

  • Andersen Syndrome / complications
  • Andersen Syndrome / diagnosis
  • Andersen Syndrome / genetics*
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Echocardiography
  • Electrocardiography, Ambulatory
  • Female
  • Humans
  • Middle Aged
  • Mutation*
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Potassium Channels, Inwardly Rectifying / metabolism
  • Ventricular Fibrillation / diagnosis
  • Ventricular Fibrillation / etiology*
  • Ventricular Fibrillation / genetics

Substances

  • KCNJ2 protein, human
  • Potassium Channels, Inwardly Rectifying
  • DNA