Cardiac involvement in a female carrier of Duchenne muscular dystrophy

Int J Cardiol. 2010 Feb 4;138(3):302-5. doi: 10.1016/j.ijcard.2008.06.084. Epub 2008 Aug 15.


A 42 year-old female carrier of Duchenne muscular dystrophy (DMD) was referred with suspected subacute myocarditis and non-sustained ventricular tachycardia. Echochardiography and cardiac catheterization revealed severely reduced left ventricular function (LVF). Coronary artery disease was excluded. Cardiac magnetic resonance imaging showed transmural, intramural and subepicardial late gadolinium enhancement. Myocardial biopsy excluded viral infection and showed severe myopathic changes with abnormal expression of dystrophin and utrophin. Moleculargenetic analysis of the DMD gene revealed frameshift duplication of exon 2. The patient received conventional heart failure therapy, implantable cardioverter/defibrillator-implantation and prednisolone to attenuate cardiac degradation. 6 months later she had improved clinically though LVF was still severely reduced.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Biopsy
  • Dystrophin / genetics*
  • Female
  • Heart Failure / genetics*
  • Heart Failure / pathology*
  • Heart Failure / therapy
  • Heterozygote*
  • Humans
  • Magnetic Resonance Imaging
  • Muscular Dystrophy, Duchenne / genetics*
  • Muscular Dystrophy, Duchenne / pathology*


  • DMD protein, human
  • Dystrophin