Cardiac involvement in Emery-Dreifuss muscular dystrophy: role of a diagnostic pacemaker

Pacing Clin Electrophysiol. 1995 Sep;18(9 Pt 1):1721-4. doi: 10.1111/j.1540-8159.1995.tb06996.x.

Abstract

Emery-Dreifuss muscular dystrophy is an X-linked recessive myopathy. Its progression is slow, and it rarely leads to cessation of walking; therefore, it has often been called "benign." On the other hand, cardiac involvement is often severe and sudden death is not uncommon. We describe a family with four affected males, two of whom died suddenly. The case of an affected man with first-degree AV block, incomplete right bundle branch block, and left anterior fascicular block is described in detail. The prophylactic insertion of a diagnostic pacemaker enabled us to follow the progress of conduction disturbances without leaving the patient unprotected. While AV and intraventricular conduction defects were more prominent before pacemaker implantation, sinus node dysfunction became more important during the follow-up.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrioventricular Node / physiopathology
  • Bundle-Branch Block / diagnosis
  • Bundle-Branch Block / etiology
  • Death, Sudden
  • Follow-Up Studies
  • Genes, Recessive
  • Genetic Linkage
  • Heart Block / diagnosis*
  • Heart Block / etiology*
  • Heart Block / genetics
  • Heart Ventricles
  • Humans
  • Male
  • Muscular Dystrophies / complications*
  • Muscular Dystrophy, Emery-Dreifuss
  • Pacemaker, Artificial*
  • Sinoatrial Node / physiopathology
  • X Chromosome