A cardiac perspective for management of dystrophinopathies
Main Article Content
Abstract
Cardiac disease is a leading cause of death in Duchenne and Becker muscular dystrophy, with dilated cardiomyopathy and arrhythmias nearly ubiquitous by adulthood. Guideline-directed surveillance with echocardiography, cardiac MRI, and rhythm monitoring enables early initiation of ACE inhibitors, beta-blockers, and mineralocorticoid receptor antagonists, which delay progression and improve survival. Multidisciplinary cardio-neuromuscular clinics further enhance outcomes by integrating surveillance, timely device therapy, and advanced interventions. Proactive interdisciplinary care is thus essential to preserving function and extending survival in dystrophinopathies.
Keywords:
Dystrophinopathies, Duchenne muscular dystrophy, Dilated cardiomyopathy, Cardiac MRI, Multidisciplinary care
Article Details
How to Cite
ROSENSTEIN, Isaiah; ANZISKA, Yaacov.
A cardiac perspective for management of dystrophinopathies.
Medical Research Archives, [S.l.], v. 13, n. 10, oct. 2025.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/6989>. Date accessed: 05 dec. 2025.
doi: https://doi.org/10.18103/mra.v13i10.6989.
Section
Review Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
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35. Rajdev A, Groh WJ. Arrhythmias in the muscular dystrophies. Card Electrophysiol Clin. 2015;7(2):30 3-308. doi:10.1016/j.ccep.2015.03.011
36. Villa CR, Czosek RJ, Ahmed H, et al. Ambulatory monitoring and arrhythmic outcomes in pediatric and adolescent patients with Duchenne muscular dystrophy. J Am Heart Assoc. 2015;5(1):e002620. doi:10.1161/JAHA.115.002620
37. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 201 8;17(4):347-361. doi:10.1016/S1474-4422(18)30025-5
38. Conway KM, Thomas S, Neyaz T, et al. Prophylactic use of cardiac medications and survival in Duchenne muscular dystrophy. Muscle Nerve. 2025;71(4):574-582. doi:10.1002/mus.28353
39. Tsuda T, Fitzgerald K, Scavena M, et al. Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. J Hum Genet. 2015;60(3):151-155. doi:10.10 38/jhg.2014.112
40. Ho R, Nguyen ML, Mather P. Cardiomyopathy in Becker muscular dystrophy: overview. World J Cardiol. 2016;8(6):356-361. doi:10.4330/wjc.v8.i6.356
41. Connuck DM, Sleeper LA, Colan SD, et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2008;155(6) :998-1005. doi:10.1016/j.ahj.2008.01.018
2. Nigro G, Papa AA, Politano L. The heart and cardiac pacing in Steinert disease. Acta Myol. 2012;31(2):110-116.
3. Becker Muscular Dystrophy: Practice essentials, pathophysiology, epidemiology. Medscape. Updated June 26, 2021. Accessed August 1, 2025. https://emedicine.medscape.com/article/313417-overview
4. Cardiac complications of neuromuscular disorders. Clinical Tree. Published March 4, 2024. Accessed August 1, 2025. https://clinicalpub.com/cardiac-complications-of-neuromuscular-disorders/
5. Giuliani L, Di Toro A, Urtis M, et al. Hereditary muscle diseases and the heart: the cardiologist’s perspective. Eur Heart J Suppl. 2020;22(Suppl E):E13-E19. doi:10.1093/eurheartj/suaa051
6. Myotonic Dystrophy (MDA) Clinic. Houston Methodist. Published 2021. Accessed August 1, 2025. https://www.houstonmethodist.org/neurology/centers-and-programs/myotonic-dystrophy-clinic/
7. Myotonic dystrophy (DM). University of Iowa Health Care. Published 2025. Accessed August 1, 2025. https://uihc.org/services/myotonic-dystrophy-dm
8. Friedreich’s ataxia clinic: overview. Mayo Clinic. Published 2025. Accessed August 1, 2025. https://www.mayoclinic.org/departments-centers/friedreichs-ataxia-clinic/overview/ovc-20567704
9. Groh WJ, Bhakta D, Tomaselli GF, et al. 2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disorders. Heart Rhythm. 2022;19(10):e61-e120. doi:10.1016/j.hrthm.2022.04.022
10. Nikhanj A, Yogasundaram H, Nichols BM, et al. Cardiac intervention improves heart disease and clinical outcomes in patients with muscular dystrophy in a multidisciplinary care setting. J Am Heart Assoc. 2020;9(2):e014004. doi:10.1161/JA HA.119.014004
11. Wu RS, Gupta S, Brown RS, et al. Clinical outcomes after cardiac transplantation in muscular dystrophy patients. J Heart Lung Transplant. 2007; 26(4):432-438. doi:10.1016/j.healun.2006.12.004
12. Feingold B, Mahle WT, Auerbach S, et al. Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation. 2017;136(13):e200-e231. doi:10.1161/CIR.000000 0000000526
13. Washington University School of Medicine. Cardio-neuromuscular disorders – cardiovascular division. Published April 12, 2024. Accessed August 1, 2025. https://cardiology.wustl.edu/patient-care/cardio-neuromuscular-disorders/
14. Haydock P. Developing an integrated, multidisciplinary clinic for Duchenne muscular dystrophy patients and their carers from across the Wessex region. Poster presented at: British Cardiovascular Society Annual Conference; February 2025; London, UK. Accessed August 1, 2025. https://britishcardiovascularsociety.org.uk/wp-content/uploads/2025/02/Paul-Haydock-Poster.pdf
15. Clinic integrates care and genetic research for patients with neuromuscular disorders. USF Health News. Baier AD. Published November 15, 2019. Accessed August 1, 2025. https://hscweb3.hsc.usf.edu/blog/2019/11/15/clinic-integrates-care-and-genetic-research-for-patients-with-neuromuscular-disorders/
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17. Agdamag AC, Nandar PP, Tang WHW. Advanced heart failure therapies in neuromuscular diseases. Curr Treat Options Cardiovasc Med. 202 4;26(8):255-310. doi:10.1007/s11936-024-01046-2
18. Paganoni S, Nicholson K, Leigh F, et al. Developing multidisciplinary clinics for neuromuscular care and research. Muscle Nerve. 2017;56(5):848-858. doi:1 0.1002/mus.25725
19. Enhancing multidisciplinary care for neuromuscular disorders. Peltier A. Neurology Live. Published March 25, 2024. Accessed August 1, 2025. https://www.neurologylive.com/view/enhancing-multidisciplinary-care-neuromuscular-disorders-amanda-peltier
20. Russo V, Antonini G, Massa R, et al. Comprehensive cardiovascular management of myotonic dystrophy type 1 patients: a report from the Italian Neuro-Cardiology Network. J Cardiovasc Dev Dis. 2024;11(2):63. doi:10.3390/jcdd11020063
21. Politano L. Is cardiac transplantation still a contraindication in patients with muscular dystrophy-related end-stage dilated cardiomyopathy? A systematic review. Int J Mol Sci. 2024;25(10):5309. doi:10.3390/ijms25105309
22. Ashizawa T, Gagnon C, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018;8(6):507-520. doi:10.1212/CPJ.00000 00000000531
23. Gandhi S, Sweeney HL, Hart CC, Han R, Perry CGR. Cardiomyopathy in Duchenne muscular dystrophy and the potential for mitochondrial therapeutics to improve treatment response. Cells. 2024;13(14):1168. doi:10.3390/cells13141168
24. Schorling DC, Müller CK, Pechmann A, et al. Coagulation disorders in Duchenne muscular dystrophy? Results of a registry-based online survey. Acta Myol. 2020;39(1):2-12. doi:10.361 85/2532-1900-001
25. Barber BJ, Andrews JG, Lu Z, et al. Oral corticosteroids and onset of cardiomyopathy in Duchenne muscular dystrophy. J Pediatr. 2013;16 3(4):1080-1084.e1. doi:10.1016/j.jpeds.2013.05.060
26. Dec GW. Steroid therapy effectively delays Duchenne’s cardiomyopathy. J Am Coll Cardiol. 20 13;61(9):955-956. doi:10.1016/j.jacc.2012.12.011
27. Cui Y, Shao S, Zhang L, et al. The effects of glucocorticoids on cardiac function of patients with Duchenne muscular dystrophy: benefit or not? Eur J Pediatr. 2025;184(5):313-320. doi:10.1007/s0043 1-025-06141-5
28. Meyers TA, Townsend D. Cardiac pathophysiology and the future of cardiac therapies in Duchenne muscular dystrophy. Int J Mol Sci. 2019;20(17): 4098. doi:10.3390/ijms20174098
29. Starnes JR, Xu M, George-Durrett K, et al. Rate of change in cardiac magnetic resonance imaging measures is associated with death in Duchenne muscular dystrophy. J Am Heart Assoc. 2024;13(9) :e032960. doi:10.1161/JAHA.123.032960
30. Lee H, Song J, Kang I, Huh J, Yoon JA, Shin YB. Early prophylaxis of cardiomyopathy with beta-blockers and angiotensin receptor blockers in patients with Duchenne muscular dystrophy. Clin Exp Pediatr. 2022;65(10):507-509. doi:10.3345/ cep.2022.00836
31. Schultz TI, Raucci FJ, Salloum FN. Cardiovascular disease in Duchenne muscular dystrophy. JACC Basic Transl Sci. 2022;7(6):590-606. doi:10.1016/j.j acbts.2021.11.004
32. Local coverage determination: cardiac resynchronization therapy (CRT) (L39080). Centers for Medicare & Medicaid Services. Published 2021. Accessed August 15, 2025.
https://www.cms.gov/medicare-coverage-database/view/lcd.aspx?lcdid=39080
33. Al-Khatib SM, Stevenson WG, Ackerman MJ, et al. 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Circulation. 2018;138(13):e272-e391. doi:1 0.1161/CIR.0000000000000549
34. Chung MK, Patton KK, Lau CP, et al. 2023 HRS/APHRS/LAHRS guideline on cardiac physiologic pacing for the avoidance and mitigation of heart failure. Heart Rhythm. 2023;20( 9):e1039-e1134. doi:10.1016/j.hrthm.2023.03.1538
35. Rajdev A, Groh WJ. Arrhythmias in the muscular dystrophies. Card Electrophysiol Clin. 2015;7(2):30 3-308. doi:10.1016/j.ccep.2015.03.011
36. Villa CR, Czosek RJ, Ahmed H, et al. Ambulatory monitoring and arrhythmic outcomes in pediatric and adolescent patients with Duchenne muscular dystrophy. J Am Heart Assoc. 2015;5(1):e002620. doi:10.1161/JAHA.115.002620
37. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 201 8;17(4):347-361. doi:10.1016/S1474-4422(18)30025-5
38. Conway KM, Thomas S, Neyaz T, et al. Prophylactic use of cardiac medications and survival in Duchenne muscular dystrophy. Muscle Nerve. 2025;71(4):574-582. doi:10.1002/mus.28353
39. Tsuda T, Fitzgerald K, Scavena M, et al. Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27. J Hum Genet. 2015;60(3):151-155. doi:10.10 38/jhg.2014.112
40. Ho R, Nguyen ML, Mather P. Cardiomyopathy in Becker muscular dystrophy: overview. World J Cardiol. 2016;8(6):356-361. doi:10.4330/wjc.v8.i6.356
41. Connuck DM, Sleeper LA, Colan SD, et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2008;155(6) :998-1005. doi:10.1016/j.ahj.2008.01.018