Published Online
on March 20, 2003

A more recent version of this article appeared on April 1, 2003

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Submitted on September 10, 2002
Accepted on November 6, 2002

Clinical Relevance of Atrial Fibrillation/Flutter, Stroke, Pacemaker Implant, and Heart Failure in Emery-Dreifuss Muscular Dystrophy. A Long-Term Longitudinal Study

Giuseppe Boriani MD^*; Margherita Gallina MD; Luciano Merlini MD; Gisèle Bonne BS; Daniela Toniolo BS; Silvia Amati MD; Mauro Biffi MD; Cristian Martignani MD; Lorenzo Frabetti MD; Marco Bonvicini MD; Claudio Rapezzi MD; and Angelo Branzi MD

From the Institute of Cardiology (G. Boriani, M.G., S.A., M. Biffi, C.M., L.F., M. Bonvicini, C.R., A.B.), Policlinico S. Orsola-Malpighi, University of Bologna; Center for Neuromuscular Disease (L.M.), Istituti Ortopedici Rizzoli, Bologna; and Institute of Molecular Genetics-Consiglio Nazionale delle Recerche (D.T.), Pavia, Italy, and INSERM UR523-Institute de Myologie (G. Bonne), G.H. Pitié-Salpétrière, Paris, France.

^* To whom correspondence should be addressed. E-mail: cardio1{at}almadns.unibo.it.

Background and Purpose--Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder associated with cardiac involvement. We investigated the spectrum and relevance of the cardiac manifestations of EDMD, focusing on bradyarrhythmias and tachyarrhythmias (including atrial fibrillation/flutter), embolic stroke, and heart failure.

Methods and Results--Eighteen patients (age 42.8±19.6 years) with genetically confirmed X-linked (n=10, including 3 carriers) or autosomal dominant (n=8) EDMD were followed for a period ranging from 1 to 30 years in a research center for neuromuscular diseases and in a university cardiological department. Pacemakers were required by 10 of 18 (56%) patients for bradyarrhythmia, and related complications occurred in 3 of 10 (30%) cases. Atrial fibrillation/flutter developed in 11 of 18 (61%) patients, with atrial standstill subsequently occurring in 5 of 11 (45%) cases and embolic stroke (most often disabling) in 4 of 11 (36%). Heart failure requiring transplantation occurred in 1 of 18 (6%) patients, and asymptomatic left ventricular dysfunction in a further 3 (17%). No relationship was evident between neuromuscular impairment and cardiac involvement.

Conclusions--Both X-linked and autosomal dominant EDMD patients risk not only bradyarrhythmia (requiring pacemaker implant) but also atrial fibrillation/flutter, which often anticipates atrial standstill and can cause disabling embolic stroke at a relatively young age. Antithromboembolic prophylaxis has to be recommended in EDMD patients with atrial fibrillation/flutter or atrial standstill. With careful monitoring, survival after pacemaker implant may be long. Heart failure, which seems to occur only in a minority of patients, may be severe.

Key words: atrial fibrillation • congestive heart failure • muscular dystrophy, Emery-Dreifuss • stroke • thromboembolism

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