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European Heart Journal 2003 24(24):2227-2236; doi:10.1016/j.ehj.2003.09.020
Copyright © 2003 by the European Society of Cardiology.
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Clinical research

Cardiac features of Emery–Dreifuss muscular dystrophy caused by lamin A/C gene mutations

Tommaso Sannaa,*, Antonio Dello Russoa, Daniela Toniolob, Michal Vytopilb, Gemma Pelargonioa, Giuseppe De Martinoa, Enzo Riccic, Gabriella Silvestric, Vincenzo Gigliod, Loredana Messanoa, Elisabetta Zacharae and Fulvio Belloccia

a Institute of Cardiology, Catholic University of the Sacred Heart, Rome, Italy
b Institute of molecular genetics, CNR, Pavia, Italy
c Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy
d Centre for neuromuscular disease UILDM, Rome, Italy
e San Camillo Hospital, Rome, Italy

* Address for correspondence: Tommaso Sanna, Institute of Cardiology, Catholic University of the Sacred Heart, L.go A. Gemelli, 8, 00168 Rome, Italy. Tel: +39-339-8065840; fax: +39-06-3055535
E-mail address: tommaso.sanna{at}rm.unicatt.it

Received 19 April 2003; revised 30 August 2003; accepted 18 September 2003

Abstract

Aims Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in patients selected on the basis of a phenotype characterized by dilated cardiomyopathy, atrioventricular conduction disturbances and sudden death. However, the features of cardiac abnormalities in patients with an initial diagnosis of Emery–Dreifuss muscular dystrophy (EDMD) are poorly known. Aim of the present study was to investigate the spectrum of cardiac disease in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene.

Methods and results Ten consecutive patients with EDMD and a LMNA gene mutation were evaluated with structured medical interview, physical examination, ECG, echocardiogram and 24-h Holter monitoring. Electrophysiological testing and cardiac catheterization were performed if a class 1 or 2 American Heart Association guidelines indication was present. Cardiac disease was found in eight of 10 patients and consisted in the variable combination of supraventricular arrhythmias, disorders of atrioventricular conduction, ventricular arrhythmias, dilated cardiomyopathy, non-dilated cardiomyopathy, restrictive cardiomyopathy and sudden death despite pacemaker implant.

Conclusions Cardiac disease is common in patients with an initial diagnosis of EDMD caused by a mutation in the LMNA gene and consists of arrhythmias, disorders of atrioventricular conduction, cardiomyopathies and sudden death despite pacemaker implant.

Key Words: Muscular dystrophy • Lamin A/C • Cardiac disease • Arrhythmia • Cardiomyopathy • Sudden death


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