Pacemaker malfunctions in Danon's disease

Pacing Clin Electrophysiol. 2008 Jan;31(1):125-8. doi: 10.1111/j.1540-8159.2007.00937.x.

Abstract

We describe a case of a 30-year-old man with Danon's disease, an X-linked genetic disorder due to deficiency of lysosomal-associated membrane protein 2 with secondary intracytoplasmatic glycogen and autophagic material storage. This disease is characterized by skeletal muscle involvement, mental retardation, ophthalmic abnormalities, and cardiac disease. In this patient, cardiac involvement was characterized by hypertrophic cardiomyopathy in young age, preexcitation, and parossistic atrioventricular block. The patient underwent to an implantable cardioverter defibrillator implantation for conduction disorders and for primary prevention of sudden death, a frequent event in Danon's disease. This case report describes cardiac involvement with conduction disorders and multiple pacemaker malfunctions in Danon's disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Defibrillators, Implantable*
  • Device Removal
  • Electrocardiography
  • Equipment Failure
  • Glycogen Storage Disease Type IIb / therapy*
  • Humans
  • Male
  • Retreatment