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Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy

Lookup NU author(s): Dr Marianela Schiava, Dr John Bourke, Professor Jordi Diaz ManeraORCiD, Anna Johnson, Dr Maha Elseed, Professor Giorgio TascaORCiD, Ammar KadhimORCiD, Professor Volker StraubORCiD, Professor Chiara Marini Bettolo, Professor Michela GuglieriORCiD

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Abstract

© 2025 The AuthorsCardiomyopathy is a common co-morbidity in individuals with Duchenne muscular dystrophy (DMD). This retrospective single centre study investigated the relationship between age at loss of ambulation (LOA) and late stage left ventricular ejection fraction (LVEF) in 84 individuals (> 16 years old) with DMD taking glucocorticoid and ACE inhibitors treatment. Regression analyses showed a positive correlation between later age at LOA and higher LVEF in adulthood (linear regression estimate 1.49, 95 % CI: 0.13–2.84, p = 0.03). Each additional year of ambulation increased the odds of displaying a higher LVEF category (LVEF 40 %, 40 – 50 % or 50 %) by 35 % (p = 0.003). Sensitivity models excluding cardioprotective genotypes (absence of Dp116 isoform) and mild motor phenotypes (out of frame deletions amenable to skip exon 44 and 45) confirmed this association while models including age at respiratory impairment did not improve the model. Individuals who lost ambulation before age 11.92 (ROC AUC 0.73, 95 % CI: 0.60–0.85) reached a LVEF <40 % 5.21 years earlier than those who lost ambulation after that age (adjusted restricted mean survival time 19.08 vs 24.29 years, p < 0.001). These findings may suggest that prolonging ambulation does not impact cardiac function adversely in advance stages of DMD.

Publication metadata

Author(s): Schiava M, Bourke JP, Diaz-Manera J, Johnson A, Elseed MA, Tasca G, Kadhim K, Straub V, Bettolo CM, Guglieri M

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2025

Volume: 46

Online publication date: 07/01/2025

Acceptance date: 06/01/2025

Date deposited: 27/01/2025

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd

URL: https://doi.org/10.1016/j.nmd.2025.105276

DOI: 10.1016/j.nmd.2025.105276

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