Heart Transplantation and Ventricular Assist Device in Duchenne Muscular Dystrophy: A New Era.
| Title: | Heart Transplantation and Ventricular Assist Device in Duchenne Muscular Dystrophy: A New Era. |
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| Authors: | Rosenthal DN; Stanford University School of Medicine, Stanford, USA.; Amodeo A; Catholic University of Sacred Heart, Bambino Gesù Children Hospital, Milan, Italy.; Butterfield RJ; Unversity of Utah School of Medicine, Salt Lake, USA.; Butts R; University of Texas Southwestern, Dallas, USA.; Chrzanowski S; UMass Memorial Health, Worcester, USA.; Cripe L; Nationwide Children's Hospital and the Ohio State University School of Medicine, Columbus, USA.; Day J; Stanford University School of Medicine, Stanford, USA.; Davies R; University of Texas Southwestern, Dallas, USA.; Duong T; Stanford University School of Medicine, Stanford, USA.; Evers P; Oregon Health and Science University, Portland, USA.; Gambetta K; Ann & Robert H Lurie Children's Hospital, Chicago, USA.; Harris R; Monroe Carell Children's Hospital at Vanderbilt, Nashville, USA.; Hayes E; Nationwide Children's Hospital and the Ohio State University School of Medicine, Columbus, USA.; Kaufman B; Stanford University School of Medicine, Stanford, USA.; Lorts A; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.; Mack G; St Lukes Childrens Cardiology, Boise, USA.; Mackenzie SJ; University of Rochester, Rochester, USA.; Mammen P; University of Kansas Medical Center, Kansas, USA.; Markham L; Indiana University School of Medicine, Indianapolis, USA.; McAlister J; Columbia University Vagelos College of Physicians and Surgeons, New York, USA.; McDonald C; University of California, Davis, USA.; Nakano SJ; University of Colorado, Children's Hospital Colorado, Aurora, USA.; Nandi D; Nationwide Children's Hospital and the Ohio State University School of Medicine, Columbus, USA.; Navaratnam M; Stanford University School of Medicine, Stanford, USA.; Nelson S; University of California, Los Angeles, USA.; Parent JJ; Indiana University School of Medicine, Indianapolis, USA.; Piccoli C; Stanford University School of Medicine, Stanford, USA.; Richmond M; Columbia University Vagelos College of Physicians and Surgeons, New York, USA.; Rocha C; Stanford University School of Medicine, Stanford, USA.; Sawnani H; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.; Schrader R; Parent Project Muscular Dystrophy, Hackensack, USA.; Shell R; Nationwide Children's Hospital and the Ohio State University School of Medicine, Columbus, USA.; Shih R; Rare Disease Research, Bethesda, USA.; Shugh S; Joe DiMaggio Children's Hospital, Hollywood, USA.; Smart T; Parent Project Muscular Dystrophy, Hackensack, USA.; Soslow J; Vanderbilt University Medical Center, Nashville, USA.; Spinner J; Baylor College of Medicine/Texas Children's Hospital, Houston, USA.; Taivassalo T; University of Florida, Gainesville, USA.; Tunugtla H; Baylor College of Medicine/Texas Children's Hospital, Houston, USA.; VanderPluym C; Boston Children's Hospital, Boston, USA.; Veerapandiyan A; University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, USA.; Villa C; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.; Wittlieb-Weber C; Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.; Zafarullah M; Stanford University School of Medicine, Stanford, USA.; Hollander S; Stanford University School of Medicine, Stanford, USA. |
| Source: | Pediatric transplantation [Pediatr Transplant] 2026 Jan; Vol. 30 (1), pp. e70253. |
| Publication Type: | Journal Article; Review |
| Language: | English |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9802574 Publication Model: Print Cited Medium: Internet ISSN: 1399-3046 (Electronic) Linking ISSN: 13973142 NLM ISO Abbreviation: Pediatr Transplant Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Copenhagen ; Malden, MA : Munksgaard, c1997- |
| MeSH Terms: | Muscular Dystrophy, Duchenne*/complications ; Muscular Dystrophy, Duchenne*/therapy ; Heart Failure*/etiology ; Heart Failure*/therapy ; Heart Failure*/surgery ; Heart-Assist Devices* ; Heart Transplantation*; Cardiomyopathies/etiology ; Humans ; Child |
| Abstract: | Duchenne muscular dystrophy (DMD) is an X-linked genetic neuromuscular disorder that is caused by a mutation in the dystrophin gene. The disease is characterized by progressive weakness of skeletal muscle, resulting in loss of ambulation and eventually respiratory insufficiency. Cardiac muscle is also involved, and cardiomyopathy is a prominent feature of DMD. The care of patients with DMD has changed in important ways over the past 15 years, with the use of chronic steroid therapy combined with noninvasive respiratory support such as continuous positive airway pressure for home use. More recently, therapies targeting specific genetic mutations in DMD have been approved, using gene-skipping oligonucleotides, and many other novel therapies are being evaluated in clinical trials, including mini-dystrophin genes delivered by viral vectors. In view of this new era in care and outcomes, it is appropriate to review the role of advanced cardiac therapies such as ventricular assist devices and heart transplantation in the care of this population. In September 2024, a group of healthcare professionals with expertise in DMD and heart failure convened to review this topic; the consensus opinion of this group (DMD Cardiac Care Consortium) is presented in this manuscript.; (© 2025 Wiley Periodicals LLC.) |
| References: | P. A. Romitti, Y. Zhu, S. Puzhankara, et al., “Prevalence of Duchenne and Becker Muscular Dystrophies in the United States,” Pediatrics 135 (2015): 513–521.; J. Broomfield, M. Hill, M. Guglieri, M. Crowther, and K. Abrams, “Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta‐Analysis,” Neurology 97, no. 23 (2021): e2304–e2314.; J. Iff, N. Done, E. Tuttle, et al., “Survival Among Patients Receiving Eteplirsen for up to 8 Years for the Treatment of Duchenne Muscular Dystrophy and Contextualization With Natural History Controls,” Muscle and Nerve 70 (2024): 60–70.; L. Wahlgren, A.‐K. Kroksmark, M. Tulinius, and K. Sofou, “One in Five Patients With Duchenne Muscular Dystrophy Dies From Other Causes Than Cardiac or Respiratory Failure,” European Journal of Epidemiology 37 (2022): 147–156.; C. Spurney, R. Shimizu, L. P. Morgenroth, et al., “Cooperative International Neuromuscular Research Group Duchenne Natural History Study Demonstrates Insufficient Diagnosis and Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy,” Muscle and Nerve 50 (2014): 250–256.; P. Paramsothy, Y. Wang, B. Cai, et al., “Selected Clinical and Demographic Factors and All‐Cause Mortality Among Individuals With Duchenne Muscular Dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network,” Neuromuscular Disorders 32 (2022): 468–476.; D. J. Birnkrant, E. Ararat, and M. J. Mhanna, “Cardiac Phenotype Determines Survival in Duchenne Muscular Dystrophy: Survival in Duchenne Muscular Dystrophy,” Pediatric Pulmonology 51 (2016): 70–76.; M. M. Colvin, J. M. Smith, Y. S. Ahn, et al., “OPTN/SRTR 2023 Annual Data Report: Heart,” American Journal of Transplantation 25 (2025): S329–S421.; T. D. Ryan, J. L. Jefferies, H. Sawnani, et al., “Implantation of the HeartMate II and HeartWare Left Ventricular Assist Devices in Patients With Duchenne Muscular Dystrophy: Lessons Learned From the First Applications,” American Society for Artificial Internal Organs Journal 60 (2014): 246–248.; G. Brancaccio, S. Filippelli, G. Michielon, et al., “Ventricular Assist Devices as a Bridge to Heart Transplantation or as Destination Therapy in Pediatric Patients,” Transplantation Proceedings 44 (2012): 2007–2012.; D. Nandi, S. R. Auerbach, N. Bansal, et al., “Initial Multicenter Experience With Ventricular Assist Devices in Children and Young Adults With Muscular Dystrophy: An ACTION Registry Analysis,” Journal of Heart and Lung Transplantation 42 (2023): 246–254.; W. Rees, S. Schüler, M. Hummel, and R. Hetzer, “Heart Transplantation in Patients With Muscular Dystrophy Associated With End‐Stage Cardiomyopathy,” Journal of Heart and Lung Transplantation 12 (1993): 804–807.; A. Piperata, T. Bottio, G. Toscano, M. Avesani, A. Vianello, and G. Gerosa, “Is Heart Transplantation a Real Option in Patients With Duchenne Syndrome? Inferences From a Case Report,” ESC Heart Failure 7 (2020): 3198–3202.; R. S. Wu, S. Gupta, R. N. Brown, et al., “Clinical Outcomes After Cardiac Transplantation in Muscular Dystrophy Patients,” Journal of Heart and Lung Transplantation 29 (2010): 432–438.; B. D. Kaufman, A. Garcia, Z. He, et al., “Major Adverse Dystrophinopathy Events (MADE) Score as Marker of Cumulative Morbidity and Risk for Mortality in Boys With Duchenne Muscular Dystrophy,” Progress in Pediatric Cardiology 69 (2023): 101639.; A. Tandon, C. R. Villa, K. N. Hor, et al., “Myocardial Fibrosis Burden Predicts Left Ventricular Ejection Fraction and Is Associated With Age and Steroid Treatment Duration in Duchenne Muscular Dystrophy,” Journal of the American Heart Association 4 (2015): e001338.; J. H. Soslow, M. Xu, J. C. Slaughter, et al., “Cardiovascular Measures of All‐Cause Mortality in Duchenne Muscular Dystrophy,” Circulation. Heart Failure 16 (2023): e010040. |
| Entry Date(s): | Date Created: 20251222 Date Completed: 20251222 Latest Revision: 20260505 |
| Update Code: | 20260506 |
| DOI: | 10.1111/petr.70253 |
| PMID: | 41424087 |
| Database: | MEDLINE |
Journal Article; Review