Echocardiography in duchenne muscular dystrophy: a call for consistency and standardisation of reporting

Williams, L, Bennett, S, Atkinson, C, Augustine, DX, Bland, M, Grant, H, Hobday, J, Johnson, A, Kadhim, K, Kuhwald, L, Bettolo, CM, Kerr, A, Oxborough, D ORCID: 0000-0002-1334-3286, Ring, L, Robinson, S, Sopala, J, Turner, C, Villa, C, Guglieri, M, Bourke, J et al (2026) Echocardiography in duchenne muscular dystrophy: a call for consistency and standardisation of reporting. Echo Research and Practice, 13 (1). pp. 1-11. ISSN 2055-0464 (Accepted)

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Abstract

Duchenne muscular dystrophy (DMD) is a genetically determined, neuromuscular disorder occurring predominantly in males with a prevalence of 1:3,500 to 1:5,000 live male births. It is a life limiting condition with average life expectancy of only 28.1 years in the United Kingdom. A dilated cardiomyopathy occurs in all patients with DMD, and cardio-respiratory causes now account for about 80% of all deaths in adult patients. Transthoracic echocardiography (TTE) is a widely used non-invasive imaging modality to assess cardiac structure, chamber dimensions, and myocardial function, and so plays a central role in guiding the timely initiation and adjustment of ‘heart failure’ medications. However, obtaining high quality images in patients with DMD can be challenging, particularly after patients lose ambulation, become wheelchair reliant, and require non-invasive ventilatory support. We review the current literature and evidence pertaining to echocardiography and the assessment of cardiac function in this patient group. This article seeks to discuss the strengths and limitations of TTE in patients with DMD, recommends a standard set of the measures to be reported at all assessments, and offers consensus guidance, based on expert opinion, to allow valid comparisons of serial assessments even when performed by different TTE services.

Item Type:	Article
Uncontrolled Keywords:	Muscular dystrophy; Cardiac dystrophinopathy; Cardiac imaging; Echocardiography; Cardiac dystrophinopathy; Cardiac imaging; Echocardiography; Muscular dystrophy; 32 Biomedical and Clinical Sciences; 3202 Clinical Sciences; Biomedical Imaging; Rare Diseases; Duchenne/ Becker Muscular Dystrophy; Muscular Dystrophy; Orphan Drug; Heart Disease; Pediatric Research Initiative; Cardiovascular; Cardiovascular; Musculoskeletal; 3 Good Health and Well Being
Subjects:	Q Science > Q Science (General) R Medicine > RA Public aspects of medicine R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions:	Sport and Exercise Sciences
Publisher:	Springer
Date of acceptance:	2 July 2026
Date of first compliant Open Access:	16 September 2026
Date Deposited:	16 Sep 2026 12:55
Last Modified:	16 Sep 2026 12:55
DOI or ID number:	10.1186/s44156-026-00130-6
URI:	https://researchonline.ljmu.ac.uk/id/eprint/29457

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