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Article

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

Cardiology in the young - 1 Jun 2012

Donner Birgit C, Marschall Christoph, Marshall Christoph, Schmidt Klaus G

Abstract excerpt

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...

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Identifiers

PMID: 22067087
DOI: 10.1017/S1047951111001831

Genes

KCNH2

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