Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: A long-term longitudinal study

Giuseppe Boriani, Margherita Gallina, Luciano Merlini, Gisèle Bonne, Daniela Toniolo, Silvia Amati, Mauro Biffi, Cristian Martignani, Lorenzo Frabetti, Marco Bonvicini, Claudio Rapezzi, Angelo Branzi

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Abstract

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.

Original languageEnglish
Pages (from-to)901-908
Number of pages8
JournalStroke
Volume34
Issue number4
DOIs
Publication statusPublished - Apr 1 2003

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Keywords

  • Atrial fibrillation
  • Congestive heart failure
  • Muscular dystrophy, Emery-Dreifuss
  • Stroke
  • Thromboembolism

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Neuroscience(all)

Cite this

Boriani, G., Gallina, M., Merlini, L., Bonne, G., Toniolo, D., Amati, S., Biffi, M., Martignani, C., Frabetti, L., Bonvicini, M., Rapezzi, C., & Branzi, A. (2003). Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: A long-term longitudinal study. Stroke, 34(4), 901-908. https://doi.org/10.1161/01.STR.0000064322.47667.49