Atrial paralysis in a patient with Emery-Dreifuss muscular dystrophy

Pacing Clin Electrophysiol. 1992 Feb;15(2):135-40. doi: 10.1111/j.1540-8159.1992.tb03056.x.

Abstract

Emery-Dreifuss disease is a benign X-linked muscular dystrophy characterized by a distinct pattern of muscle weakness, which is of insidious onset and slow progression. It is associated with atrial paralysis that results in sudden death in early adulthood if left untreated. The authors report the documentation of electrical and mechanical silence confined to the atria in a patient with this disease. Electrocardiography and electrophysiological study document the absence of electrical atrial activity, and inability to pace the atria. Hemodynamic studies demonstrate the absence of A waves, and angiography revealed immobility of the atria. This patient has done well following the institution of permanent ventricular pacing. His brother, who also had muscular dystrophy, died a sudden cardiac death at the age of 29 after refusing medical intervention. Emery-Dreifuss muscular dystrophy is particularly worthy of recognition because of the preventable occurrence of sudden death in young patients with an otherwise excellent prognosis. Permanent ventricular pacing is indicated.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Atrial Function*
  • Death, Sudden, Cardiac / prevention & control
  • Electrocardiography
  • Genetic Linkage
  • Heart Atria / physiopathology*
  • Humans
  • Male
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / physiopathology
  • Muscular Dystrophy, Emery-Dreifuss
  • Pacemaker, Artificial*
  • X Chromosome*