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

Manoj N Obeyesekere; George J Klein; Susan Conacher; Andrew D Krahn

doi:10.1016/j.cjca.2011.05.004

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.

Authors

Manoj N Obeyesekere¹, George J Klein, Susan Conacher, Andrew D Krahn

Affiliation

¹ University of Western Ontario, Division of Cardiology, London, Ontario, Canada.

PMID: 21875779
DOI: 10.1016/j.cjca.2011.05.004

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