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(Stroke. 2003;34:901.)
© 2003 American Heart Association, Inc.

Original Contributions

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 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.

Correspondence and reprint requests to Giuseppe Boriani, MD, Institute of Cardiology, Policlinico S. Orsola-Malpighi, University of Bologna, Via Massarenti n. 9, 40138 Bologna, Italy. 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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