Left ventricular dysfunction in duchenne muscular dystrophy and genotype

Am J Cardiol. 2014 Jul 15;114(2):284-9. doi: 10.1016/j.amjcard.2014.04.038. Epub 2014 May 2.


Prognosis in patients with Duchenne muscular dystrophy (DMD) is guarded, and most deaths are due to cardiac or respiratory causes. It is unclear if some DMD gene mutations might be predictive of either mild or severe cardiac dysfunction. We studied 75 patients with DMD followed at our institution. Cardiac function, as assessed by yearly echocardiography, showed marked variability in left ventricular (LV) function. Some patients in their 3rd decade had no or minimal dysfunction, whereas others in their 2nd decade had very severe dysfunction. Therefore, 4 severity groups were defined ranging from no or mild LV dysfunction to severe LV dysfunction using patient age at first abnormal echocardiographic finding and degree of LV dysfunction. Genetic data were collected for all patients. Most patients had mutations from exon 1 to 20 to exon 41 to 55. The distribution of the 4 severity groups of LV dysfunction did not significantly differ between these 2 mutation groups. An analysis based on the number of exons involved (<5 vs ≥5 exons) also found no significant difference in cardiac severity. When patients having identical mutations were compared with their cardiac course, concordance was often not evident. Steroid therapy had no apparent protection for the development of cardiomyopathy. In conclusion, 75 patients with DMD showed marked variability in the severity of LV dysfunction. Neither the age of onset nor the severity of cardiomyopathy correlated with any of the mutation groups.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • DNA / genetics
  • DNA Mutational Analysis
  • Disease Progression
  • Dystrophin / genetics
  • Echocardiography
  • Exons
  • Female
  • Follow-Up Studies
  • Genotype
  • Humans
  • Male
  • Muscular Dystrophy, Duchenne / complications
  • Muscular Dystrophy, Duchenne / genetics*
  • Mutation
  • Retrospective Studies
  • Ventricular Dysfunction, Left / diagnostic imaging
  • Ventricular Dysfunction, Left / etiology*
  • Ventricular Dysfunction, Left / physiopathology
  • Ventricular Function, Left*
  • Young Adult


  • DMD protein, human
  • Dystrophin
  • DNA