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

Stroke. 2003 Apr;34(4):901-8. doi: 10.1161/01.STR.0000064322.47667.49. Epub 2003 Mar 20.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Atrial Fibrillation / diagnosis
  • Atrial Fibrillation / epidemiology
  • Atrial Flutter / diagnosis
  • Atrial Flutter / epidemiology
  • Bradycardia / diagnosis
  • Bradycardia / therapy
  • Child
  • Child, Preschool
  • Electrocardiography
  • Female
  • Follow-Up Studies
  • Heart Diseases / diagnosis*
  • Heart Diseases / diagnostic imaging
  • Heart Diseases / therapy
  • Heart Failure / diagnosis
  • Heart Failure / epidemiology
  • Humans
  • Infant
  • Longitudinal Studies
  • Male
  • Middle Aged
  • Muscular Dystrophy, Emery-Dreifuss / complications
  • Muscular Dystrophy, Emery-Dreifuss / diagnosis*
  • Muscular Dystrophy, Emery-Dreifuss / therapy*
  • Pacemaker, Artificial* / adverse effects
  • Pedigree
  • Stroke / diagnosis*
  • Stroke / epidemiology
  • Thromboembolism / complications
  • Thromboembolism / epidemiology
  • Ultrasonography
  • Ventricular Dysfunction, Left / diagnosis
  • Ventricular Dysfunction, Left / epidemiology