Guideline-directed medical therapy use in adults with duchenne muscular dystrophy and heart failure with reduced ejection fraction

Background/Introduction

Duchenne muscular dystrophy (DMD) is a progressive X-linked neuromuscular disorder that leads to dilated cardiomyopathy and heart failure (HF) in almost all patients by adulthood. Due to advances in respiratory and multidisciplinary care, extended survival is seen in this population which has led to the increase in prevalence of DMD-related cardiomyopathy. Despite consensus recommendations, the extent of guideline-directed medical therapy (GDMT) utilisation in this population remains varied across different institutions. In response, the World Duchenne Organisation has established an accreditation program for Duchenne centres to adhere to the latest guidelines and standards of care.

Purpose

To evaluate the proportion of adult patients with DMD and heart failure with reduced ejection fraction (HFrEF) under specialist care at an accredited Duchenne centre, who are receiving GDMT according to the most recent HF guidelines.

Methods

A retrospective audit was conducted of all patients aged ≥18 years with genetically confirmed DMD and HFrEF under the care of an accredited Duchenne centre which are being followed-up as of January 2025. Demographic, genetic, and clinical data were extracted from electronic medical records. Prescription rates for key GDMT classes which include angiotensin-converting enzyme inhibitors(ACEi)/angiotensin II receptor blockers(ARB)/angiotensin receptor-neprilysin inhibitors(ARB), beta-blockers, mineralocorticoid receptor antagonists (MRA), and sodium-glucose co-transporter-2 inhibitors) were analysed.

Results

A total of 49 patients met inclusion criteria (mean age 23.5 ± 3.9 years; mean BMI 25.8 ± 8.4 kg/m²; mean LVEF 29.7 ± 9.1%). Genetic variants in the dystrophin gene included deletions (n = 32), duplications (n = 11), nonsense (n = 5), and point mutations (n = 1). Twenty-nine patients (59%) were on long-term corticosteroids, and 28 (57%) used chronic non-invasive ventilation. Comorbidities were hypertension (2%), chronic kidney disease (10%), atrial fibrillation (8%), cerebrovascular disease (4%), and myocardial infarction (2%).

Medication utilisation was high: ACEi/ARB/ARNI in 47 (96%), beta-blocker in 49 (100%), MRA in 43 (88%), and SGLT2 inhibitor in 40 (82%) patients. Additional therapies included ivabradine in 12 (24%) and loop diuretics in 5 (10%).

Conclusion

This clinical audit demonstrated excellent adherence to GDMT among adults with DMD-related HFrEF under an accredited Duchenne centre, with near-universal prescription of beta-blockers and renin–angiotensin system inhibitors. SGLT2i and MRA use were also notably high which shows proactive adoption of evidence-based HF management. These findings highlight the importance of a dedicated specialist multidisciplinary centre that adheres to up-to-date management of adults with Duchenne.Compliance to GDMTFor image description, please refer to the figure legend and surrounding text.