title: A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome.
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.
authors: Department of Paediatric Cardiology and Pneumology, University Childrens' Hospital, Duesseldorf, Germany. Birgit.Donner@med.uni-duesseldorf.de
authors: Birgit C
authors: BC
authors: Donner
authors: Christoph
authors: C
authors: Marschall
authors: Christoph
authors: C
authors: Marshall
authors: Klaus G
authors: KG
authors: Schmidt
mesh_terms: D002648:Child; D051638:Ether-A-Go-Go Potassium Channels / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation; D013575:Syncope / Q000209:etiology; D016171:Torsades de Pointes / Q000235:genetics*
chemical_list: D051638:Ether-A-Go-Go Potassium Channels; D051657:KCNQ1 Potassium Channel