DMD: a summary of the factors correlated with cardiac damage

A review of the literature on predictors of cardiac involvement in Duchenne muscular dystrophy included 33 articles concerning 9,232 patients. Most (76%) were retrospective studies, 15% randomised studies, 6% prospective cohort studies and 3% case series.

  • Cardiac treatments were significantly associated with preserved systolic ejection fraction, with a moderate to high level of evidence.
  • Mutations in exons 51 and 52 are significantly correlated with a lower risk of cardiomyopathy; deletions treatable by skipping exon 53 and mutations in the Dp116 region are thought to have a protective effect against cardiac damage; mutations in exons 45 to 50 are associated with early systolic left ventricular damage with a low to very low level of evidence.
  • Deflazacort is associated with preserved systolic ejection fraction and improved shortening fraction, with a high level of evidence; glucocorticoids appear to be associated with improved ejection fraction and a lower risk of cardiomyopathy and death from heart failure, with a low level of evidence.
  • Permanent mechanical ventilation appears to be correlated with systolic ejection fraction and the genetic modifiers LTBP4 and ACTN3 with a lower risk of cardiomyopathy (low level of evidence).

 

Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading. Landfeldt E, Alemán A, Abner S et al. Orphanet J Rare Dis. 2024 Sep 28;19(1):359.