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.