Standardised Echo Reporting Urged for Duchenne Muscular Dystrophy Hearts

Duchenne muscular dystrophy (DMD) is a rare, X-linked neuromuscular disorder occurring predominantly in males, with a prevalence of 1:3,500 to 1:5,000 live male births. It is caused by deletions, duplications, or point mutations in the dystrophin gene, and its predominant clinical phenotype is a progressive muscle-wasting condition affecting both skeletal and cardio-respiratory muscle. Although survival has improved over recent decades through multidisciplinary care, steroid therapy, non-invasive ventilation, and the early initiation of heart failure therapy, average life expectancy in the United Kingdom remains only 28.1 years. A dilated cardiomyopathy occurs in all patients with DMD, and cardio-respiratory causes now account for about 80% of all deaths in adolescents and young adults.

Because the heart is so central to the condition’s course, a UK expert group convened by DMD Care UK, in collaboration with the British Society of Echocardiography (BSE), has published consensus guidance calling for a standardised, reproducible set of transthoracic echocardiography (TTE) measures to be obtained and reported at every assessment of patients with DMD. The guidance, authored by clinicians and echocardiographers with expertise in imaging this patient group, aims to allow valid comparisons of serial cardiac assessments even when they are performed by different echocardiography services, and to support uniform, high-quality cardiac care across patients’ lifespans.

The rationale for dedicated guidance rests on the unique imaging challenges DMD presents. Loss of ambulation, chest wall deformities, scoliosis, respiratory dysfunction, and suboptimal positioning progressively reduce image quality, limiting the ability to obtain some of the more sensitive measures of heart function as the disease advances. What can still be measured are sometimes the parameters least sensitive to change, and therefore less reliable for guiding adjustments to heart failure medication. Variability between echocardiographers in overcoming these difficulties can also confound comparisons across serial studies, particularly during the transition from paediatric to adult services, a period when changes in left ventricular function often occur and cardiac management may need to change.

Serial imaging matters because patients with DMD often remain asymptomatic for prolonged periods, and heart failure symptoms typically emerge only when the cardiomyopathy is already advanced; even then, presentations can be atypical and mistakenly attributed to intra-abdominal or respiratory causes. After diagnosis, families are told that cardiac involvement is part of the condition, and a first heart assessment—ideally before the age of six, comprising a 12-lead electrocardiogram and TTE—establishes a baseline dataset of ventricular function against which later studies are compared. The 2018 Care Considerations report recommends regular cardiac assessment using TTE with or without cardiac magnetic resonance imaging (cMRI) to identify left ventricular systolic dysfunction at its earliest stages and guide timely initiation of heart failure therapy.

The recommendations are grounded in a literature review, though the authors stress it was not a graded systematic review. Twenty studies were identified, including 853 participants aged 0 to 26.5 years, of whom 532 had genetically confirmed DMD. The most frequently assessed parameters were two- and three-dimensional left ventricular ejection fraction (LVEF), two-dimensional global longitudinal strain (GLS), and the myocardial performance index. Good intra- and interobserver reproducibility was reported for LVEF and GLS. Across studies there was a consistent lack of robust paediatric reference ranges and validated cut-off values for many proposed early markers of dysfunction, and several measurements could not be reliably obtained in all patients as acoustic windows deteriorated.

Among all parameters, GLS and regional wall motion assessment showed the most consistent early abnormalities. GLS is a more sensitive indicator of early left ventricular systolic dysfunction and is typically reduced while LVEF and left ventricular fractional shortening remain within normal ranges; several studies showed an accelerated decline beginning with measures diverging from healthy peers from around seven years of age. However, the absence of universally accepted paediatric reference values and validated thresholds for clinically significant change limits GLS as an absolute measure on which to base therapy decisions—though comparing the same result serially in the same patient does allow detection of change. No single TTE parameter beyond LVEF or fractional shortening currently has validated sensitivity, specificity, or reference standards sufficient to independently mandate treatment initiation, but early abnormalities in GLS or regional wall motion should prompt careful clinical review and consideration of initiating heart failure therapies in line with contemporary guidelines.

The guidance also acknowledges the complementary role of cMRI. TTE cannot provide tissue characterisation such as myocardial oedema or fibrosis, whereas the presence and extent of late gadolinium enhancement on cMRI heralds progression to left ventricular dysfunction early in cardiac involvement and correlates more closely with the risk of ventricular arrhythmias and overt cardiac failure than ejection fraction. cMRI measures retain reproducibility and sensitivity to change as cardiomyopathy progresses. This limitation underscores the value of a multimodality surveillance strategy incorporating periodic cMRI alongside TTE. Imaging evidence of cardiac involvement creates opportunities to escalate medical therapy—including mineralocorticoid receptor antagonists, SGLT2 inhibitors, or substitution of an ACE inhibitor with sacubitril/valsartan when appropriate—and reinforces adherence to heart failure medications.

Practical feasibility changes across three broadly defined stages of the condition. In the initial diagnosis and ambulatory phase, young children can usually be scanned in optimised positions on a couch, image quality is adequate, and a full, comprehensive examination is possible, though lack of co-operation, anxiety, severe autism, or attention deficit hyperactivity disorder—all of which can be part of the DMD phenotype—may affect completeness. In the early non-ambulatory phase, scanning is usually performed in the wheelchair; parasternal long-axis images are generally still adequate and on-axis, but apical views may be unobtainable or foreshortened, and the ability to perform GLS or 2D/3D-derived LVEF is significantly compromised. In the late non-ambulatory phase, most patients use non-invasive ventilation, further impairing image quality and positioning; measurements may become qualitative with increased inter-operator variability, although contrast left ventricular opacification, rarely used in practice, may improve endocardial border definition and LVEF calculation.

The consensus recommendations themselves are structured around these realities. Where an examination is not a patient’s first, a comprehensive report and, ideally, previous images from the prior study should be available for direct comparison—especially around the paediatric-to-adult transition. In ambulant paediatric patients, a comprehensive range of TTE measurements adhering as closely as possible to the BSE minimum dataset should be obtained to establish the baseline. Once patients are non-ambulant, left ventricular fractional shortening should be obtained, as it may be sensitive to dysfunction in the basal inferolateral segments, the region typically first affected; systolic function should be assessed quantitatively, ideally with both 2D and 3D LVEF, and when image quality declines a visual, explicitly qualitative LVEF should be reported alongside comments on regional wall motion and tissue Doppler systolic velocities whenever possible. When images are non-diagnostic, contrast agents should be considered on an individualised basis, noting that some are not licensed for patients under 18. When accurate global systolic measures can no longer be provided, the report should say so clearly and recommend an alternative modality such as cMRI, cardiac computed tomography, or radionuclide ventriculography.

The authors also flag major unanswered questions. Much of the literature assumes left ventricular function declines at a consistent, predictable annual rate, but in some patients deterioration occurs in acute, unpredictable, sometimes symptomatic episodes triggered by external influences such as viral illness or inflammatory or adrenergic stress. Whether DMD has distinct cardiac phenotypes, perhaps explained by genetic or epigenetic differences, remains undetermined—and if it does, that would be a significant confounder in studies of medical interventions. The uncertainty also affects imaging schedules: fixed-interval assessments would suffice to detect gradual change, whereas abrupt deterioration would require repeat imaging so therapies could be intensified to aid re-stabilisation and limit permanent damage. The stepwise pattern likewise challenges the current age-based recommendation to deploy cardioprotective medications prophylactically no later than ten years of age, a question the authors say requires further study. Because the underlying evidence base is heterogeneous, of variable quality, and dominated by retrospective studies, the recommendations rest primarily on expert consensus—but their central message is clear: consistent acquisition and reporting of the same key measures at every assessment is what makes serial echocardiography in DMD meaningful.

Subject of Research: Consensus guidance for standardising transthoracic echocardiography reporting in Duchenne muscular dystrophy

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

Article References: Williams, L., Bennett, S., Atkinson, C., Augustine, D. X., Bland, M., Grant, H., Hobday, J., Johnson, A., Kadhim, K., Kuhwald, L., Bettolo, C. M., Kerr, A., Oxborough, D., Ring, L., Robinson, S., Sopala, J., Turner, C., Villa, C., Guglieri, M., … Coats, C. (2026). Echocardiography in duchenne muscular dystrophy: a call for consistency and standardisation of reporting. Echo Research & Practice, 13(1), Article 28. https://doi.org/10.1186/s44156-026-00130-6

Image Credits: AI Generated

DOI: 10.1186/s44156-026-00130-6

Keywords: Duchenne muscular dystrophy, echocardiography, cardiomyopathy, British Society of Echocardiography, global longitudinal strain, left ventricular ejection fraction, cardiac MRI, heart failure, consensus guidance, image quality, paediatric cardiology, duchenne