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

Published online by Cambridge University Press:  09 November 2011

Birgit C. Donner ,
Christoph Marshall  and
Klaus G. Schmidt
Birgit C. Donner*
Affiliation:
Department of Paediatric Cardiology and Pneumology, University Childrens’ Hospital, Duesseldorf, Germany
Christoph Marshall
Affiliation:
Center for Human Genetics and Laboratory Medicine, Munich, Germany
Klaus G. Schmidt
Affiliation:
Department of Paediatric Cardiology and Pneumology, University Childrens’ Hospital, Duesseldorf, Germany
*
Correspondence to: Dr B. C. Donner, MD, PhD, Department of Paediatric Cardiology and Pneumology, University Children's Hospital, Moorenstrasse 5, 40225 Düsseldorf, Germany. Tel: +01149 (0) 211 811 7671; Fax: +01149 (0) 211 811 6287; E-mail: Birgit.Donner@med.uni-duesseldorf.de
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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.

Keywords

Torsade de pointesexternal defibrillationgenotype–phenotype correlation
Type
Brief Report
Information
Cardiology in the Young , Volume 22 , Issue 3 , June 2012 , pp. 360 - 363
Copyright
Copyright © Cambridge University Press 2012

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