Referenced in: none

Automatically associated channels: Kir2.1

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

Authors: Manoj N Obeyesekere, George J Klein, Susan Conacher, Andrew D Krahn

Journal, date & volume: Can J Cardiol, 2011 Nov , 27, 870.e11-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21875779

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.