Unravelling the Complications of Dilated Cardiomyopathy in Duchenne Muscular Dystrophy: From Molecular Pathways to Disease Management.

INTRODUCTION

Duchenne Muscular Dystrophy (DMD) is a rare X-linked recessive disorder caused by mutations in the dystrophin gene, leading to progressive muscle weakness. Cardiomyopathy and respiratory failure remain leading causes of mortality despite improvements in respiratory, cardiac, and pharmacological management. This review aims to summarize current knowledge on the pathophysiology, management strategies, and emerging therapies for DMD-associated dilated cardiomyopathy.

METHODS

A comprehensive literature search was performed for studies published up to May 2025 using PubMed, Scopus, Web of Science, and Google Scholar. Keywords included "Duchenne Muscular Dystrophy," "Dilated Cardiomyopathy," "gene therapy," "disease management," "pathophysiology," and "therapeutics," combined with Boolean operators (AND, OR). Eligible studies were in English, methodologically robust, and focused on DMD pathophysiology, clinical management, and therapeutic advances.

RESULTS

Recent research has advanced the understanding of dilated cardiomyopathy in DMD. Progress includes gene therapy, exon-skipping, and interventions targeting mitochondrial dysfunction, calcium imbalance, and fibrosis, all showing promising preclinical outcomes. Multidisciplinary care approaches have extended survival and improved quality of life.

DISCUSSION: Dystrophin deficiency drives inflammation, oxidative stress, and myocardial remodeling in DMD cardiomyopathy. While supportive management is effective in delaying progression, access to advanced therapies is inconsistent, and curative treatments remain elusive.

CONCLUSION

Long-term management benefits from early diagnosis and coordinated care involving neurology, cardiology, pulmonology, and rehabilitation. Continued research into targeted molecular interventions holds promise for improved outcomes in DMD-associated cardiomyopathy.