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A case of Lamin C gene-mutation with preserved systolic function and ventricular dysrrhythmia

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Author(s): Kevin Kit Ng | Gerald Kaye

Journal: Australasian Medical Journal
ISSN 1836-1935

Volume: 6;
Issue: 2;
Start page: 75;
Date: 2013;
Original page

Keywords: Lamin A and C deficiency | Dilated Cardiomyopathy | Sudden Cardiac Death

ABSTRACT
Lamin A/C gene-related cardiomyopathy is associated with progressive heart failure and malignant arrhythmias. Current guidelines advise the use of implantable defibrillators to prevent arrhythmogenic sudden cardiac death only in situations where there is evidence of severe left ventricular dysfunction. We describe a case of a woman with genetically confirmed Lamin C deficiency with preserved left ventricular function in whom an implantable defibrillator was inserted and within a month of implantation was used to terminate symptomatic ventricular tachycardia.
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