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

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 n...

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Bibliographic Details
Published in:Cardiology journal 2013-01, Vol.20 (1), p.78-82
Main Authors: Uziębło-Życzkowska, Beata, Michałkiewicz, Dariusz, Jackun-Podleśna, Anna, Gielerak, Grzegorz, Zienciuk-Krajka, Agnieszka
Format: Article
Language:English
Subjects:
Adult
Cardiac arrest
Daughters
Death, Sudden, Cardiac
Defibrillators
Defibrillators, Implantable
Electrocardiography
Family
Family Health
Female
Humans
Long QT syndrome
Long QT Syndrome - congenital
Long QT Syndrome - genetics
Long QT Syndrome - therapy
Male
NAV1.5 Voltage-Gated Sodium Channel - genetics
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Description
Summary: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.
ISSN:1897-5593
1897-5593
1898-018X
DOI:10.5603/CJ.2013.0012