Dystrophin analysis in idiopathic dilated cardiomyopathy

J Med Genet. 1993 Nov;30(11):955-7. doi: 10.1136/jmg.30.11.955.

Abstract

Idiopathic dilated cardiomyopathy (DCM) is characterised by ventricular dilatation and impaired systolic function resulting in congestive heart failure and frequently death. A dilated cardiomyopathy is common in patients with symptomatic Duchenne/Becker muscular dystrophy, a disease caused by dystrophin gene defects. However, cardiomyopathy is rarely the predominant clinical feature of this form of muscular dystrophy. To determine whether dystrophin gene defects might account for a significant number of patients with apparently isolated idiopathic DCM, we performed dystrophin gene analysis in 27 DCM patients, who were ascertained as part of a prospective study on idiopathic DCM. No dystrophin gene defects were found in our patients, whose average age was 50 years. These data suggest that dystrophin defects are not a common cause of idiopathic DCM in this age group in the absence of skeletal muscle cramps or weakness.

Publication types

  • Comparative Study

MeSH terms

  • Blotting, Southern
  • Cardiomyopathy, Dilated / genetics*
  • DNA Mutational Analysis
  • Dystrophin / genetics*
  • Humans
  • Male
  • Polymerase Chain Reaction
  • Prospective Studies

Substances

  • Dystrophin