Referenced in: none

Automatically associated channels: Kv11.1

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

Authors: Birgit C Donner, Christoph Marshall, Klaus G Schmidt

Journal, date & volume: Cardiol Young, 2012 Jun , 22, 360-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22067087

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.