A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome.
Cardiol Young
; 22(3): 360-3, 2012 Jun.
Article
em En
| MEDLINE
| ID: mdl-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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome do QT Longo
/
Torsades de Pointes
/
Canal de Potássio KCNQ1
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Canais de Potássio Éter-A-Go-Go
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article