open access

Vol 20, No 1 (2013)
Case Reports
Published online: 2013-02-07
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Congenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene

Beata Uziębło-Życzkowska, Dariusz Michałkiewicz, Anna Jackun-Podleśna, Grzegorz Gielerak, Agnieszka Zienciuk-Krajka
DOI: 10.5603/CJ.2013.0012
·
Cardiol J 2013;20(1):78-82.

open access

Vol 20, No 1 (2013)
Case Reports
Published online: 2013-02-07

Abstract

This article presents the case of a 35 year-old male with long QT syndrome (LQTS) who suffered from sudden cardiac arrest. Even though asymptomatic LQTS had been diagnosed, the patient had not undergone any medical treatment. His two daughters, aged four and seven, were also diagnosed with LQTS. A new, previously unknown, mutation of the SCN5A gene has been found in the family. The older daughter died suddenly before implantable cardioverterdefibrillator (ICD) implantation, but the father and the younger daughter have been implanted with ICDs.

Abstract

This article presents the case of a 35 year-old male with long QT syndrome (LQTS) who suffered from sudden cardiac arrest. Even though asymptomatic LQTS had been diagnosed, the patient had not undergone any medical treatment. His two daughters, aged four and seven, were also diagnosed with LQTS. A new, previously unknown, mutation of the SCN5A gene has been found in the family. The older daughter died suddenly before implantable cardioverterdefibrillator (ICD) implantation, but the father and the younger daughter have been implanted with ICDs.
Get Citation

Keywords

long QT syndrome; sudden cardiac arrest; new mutation gene SCN5A in LQTS

About this article
Title

Congenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene

Journal

Cardiology Journal

Issue

Vol 20, No 1 (2013)

Pages

78-82

Published online

2013-02-07

DOI

10.5603/CJ.2013.0012

Bibliographic record

Cardiol J 2013;20(1):78-82.

Keywords

long QT syndrome
sudden cardiac arrest
new mutation gene SCN5A in LQTS

Authors

Beata Uziębło-Życzkowska
Dariusz Michałkiewicz
Anna Jackun-Podleśna
Grzegorz Gielerak
Agnieszka Zienciuk-Krajka

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