Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery–Dreifuss muscular dystrophy

Received 15 December 2008; received in revised form 2 December 2009; accepted 3 December 2009.

Abstract

We report the case of 14-year-old boy with X-linked Emery–Dreifuss muscular dystrophy who developed sick sinus syndrome and required placement of an implantable intracardiac cardioverter-defibrillator (ICD) to prevent sudden death. He demonstrated no significant risk factors for sudden death such as depressed left ventricular ejection fraction, or spontaneous or inducible ventricular tachycardia. One month after implantation, the patient experienced one appropriate ICD discharge.

Keywords: Sudden cardiac death, X-linked Emery–Dreifuss muscular dystrophy, Implantable cardioverter-defibrillator, Novel mutation, Primary prevention, Cardiomyopathy

a Department of Cardiothoracic and Respiratory Sciences, Arrhythmology Unit, Second University of Naples, Monaldi Hospital, Naples, Italy

b Department of Experimental Medicine, Cardiomiology and Medical Genetics, Second University of Naples, Naples, Italy

c Department of Anesthesiology, Pediatric Cardiac Surgery, Monaldi Hospital, Naples, Italy

d Department of General Pathology, Second University of Naples, Naples, Italy

e Centre of Excellence for Cardiovascular Diseases, Second University of Naples, Naples, Italy

Corresponding author. Address: Chair of Cardiology – Monaldi Hospital, Via Leonardo Bianchi, 80131 Naples, Italy. Tel.: +39 081 7064149.

PII: S0960-8966(09)00701-9

doi:10.1016/j.nmd.2009.12.004

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