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

Cardiol Young 2012 Jun 9;22(3):360-3. Epub 2011 Nov 9.

Department of Paediatric Cardiology and Pneumology, University Childrens' Hospital, Duesseldorf, Germany.

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.

Download full-text PDF

Source
http://search.proquest.com/openview/0eed75de519c5d92d813b50c
Web Search
http://dx.doi.org/10.1017/S1047951111001831DOI Listing
June 2012

Publication Analysis

Top Keywords

long syndrome
8
electrocardiograms 12-channel
4
12-channel holter
4
holter monitoring
4
intermittent prolongation
4
monitoring intermittent
4
repeated electrocardiograms
4
tachycardia repeated
4
resuscitated external
4
syncope resuscitated
4
external defibrillation
4
defibrillation recording
4
pointes tachycardia
4
recording torsade
4
prolongation interval
4
interval genetic
4
thought associated
4
gene thought
4
associated mild
4
mild clinical
4

Similar Publications