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Early Cardiac Dysfunction in Duchenne Muscular Dystrophy: A Case Report and Literature Update.

Maria Lupu1, Iustina Mihaela Pintilie2, Raluca Ioana Teleanu1,2

  • 1Clinical Neurosciences Department, Paediatric Neurology, Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.

International Journal of Molecular Sciences
|February 26, 2025
PubMed
Summary

Duchenne Muscular Dystrophy (DMD) can cause early heart problems. This case report details a 3-year-old with dilated cardiomyopathy, stressing early cardiac monitoring and personalized treatments for DMD patients.

Keywords:
Duchenne muscular dystrophycardiac pathologydilated cardiomyopathydystrophin geneexon skippinggenotype–phenotype

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Area of Science:

  • Genetics
  • Cardiology
  • Neuromuscular Disorders

Background:

  • Duchenne Muscular Dystrophy (DMD) is a severe X-linked disorder causing progressive muscle degeneration due to dystrophin deficiency.
  • Cardiac involvement, specifically dilated cardiomyopathy, is a major cause of morbidity and mortality in DMD, usually appearing after age 10.
  • Early-onset cardiac issues in DMD are rare but significantly impact patient outcomes.

Purpose of the Study:

  • To report a rare case of early-onset dilated cardiomyopathy in a pediatric patient with Duchenne Muscular Dystrophy.
  • To review genotype-phenotype correlations and emerging therapies for cardiac involvement in DMD.
  • To highlight the importance of early and continuous cardiac assessment in managing DMD.

Main Methods:

  • Case report of a 3-year-old male with a confirmed exon 55 deletion in the dystrophin gene.
  • Clinical monitoring of cardiac function, including left ventricular dysfunction.
  • Review of existing literature on DMD cardiac involvement, genetic factors, and therapeutic strategies.

Main Results:

  • The patient presented with dilated cardiomyopathy and progressive left ventricular dysfunction at 3 years and 8 months.
  • Standard treatments (corticosteroids, ACE inhibitors, beta-blockers) showed limited efficacy in preventing cardiac deterioration.
  • Specific dystrophin gene variants (exons 12, 14-17, 31-42, 45, 48-49) are linked to more severe cardiac impairment.

Conclusions:

  • This case underscores the critical need for early and vigilant cardiac monitoring in all DMD patients, regardless of age.
  • Personalized treatment approaches and novel therapies are essential to manage the heterogeneity of cardiac involvement in DMD.
  • Further research into genotype-phenotype correlations is vital for improving cardiac outcomes and developing targeted interventions for DMD.