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Published on: January 12, 2019
Novel Cardiac Imaging Risk Score for Mortality Prediction in Duchenne Muscular Dystrophy
Joseph R Starnes1, Kimberly Crum2, Kristen George-Durrett2
1Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University Medical Center, 2200 Children's Way, Nashville, TN, 37212, USA. Joseph.Starnes@vumc.org.
Insights
A new risk score helps identify Duchenne Muscular Dystrophy patients at high risk for early death from heart disease. This score, based on cardiac imaging, aids in personalized monitoring and treatment strategies.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Cardiovascular disease is the primary cause of mortality in Duchenne Muscular Dystrophy (DMD).
- Significant variability exists in DMD cardiomyopathy presentation and progression.
- Early identification of high-risk individuals is crucial for timely intervention.
Purpose of the Study:
- To develop and validate an imaging-based risk score for stratifying DMD patients based on cardiac risk.
- To correlate the risk score with mortality and disease progression.
Main Methods:
- A risk score was devised based on left ventricular dysfunction and late gadolinium enhancement from cardiac magnetic resonance (CMR) imaging.
- The score was validated in 69 DMD subjects prospectively enrolled in observational studies.
- Statistical analysis, including hazard ratios, was used to assess the association with mortality.
Main Results:
- The risk score was calculable in 69 subjects, with 17% mortality during the study.
- A higher risk score was significantly associated with increased mortality (HR 2.028, p < 0.001).
- No deaths occurred in subjects with a risk score below two, and scores remained stable over time.
Conclusions:
- An imaging-based risk score effectively stratifies cardiovascular risk in DMD patients.
- This score can be rapidly calculated during clinical visits to identify individuals requiring intensified monitoring and therapy.
- The findings support proactive management strategies for DMD-associated cardiomyopathy.
Abstract:
Cardiovascular disease is the leading cause of death in patients with Duchenne Muscular Dystrophy (DMD), but there is significant cardiomyopathy phenotypic variability. Some patients demonstrate rapidly progressive disease and die at a young age while others survive into the fourth decade. Criteria to identify DMD subjects at greatest risk for early mortality could allow for increased monitoring and more intensive therapy. A risk score was created describing the onset and progression of left ventricular dysfunction and late gadolinium enhancement in subjects with DMD. DMD subjects prospectively enrolled in ongoing observational studies (which included cardiac magnetic resonance [CMR]) were used to validate the risk score. A total of 69 subjects had calculable scores. During the study period, 12 (17%) died from complications of DMD. The median risk score was 3 (IQR [2,5]; range [0,9]). The overall risk score applied at the most recent imaging age was associated with mortality at a median age of 17 years (IQR [16,20]) (HR 2.028, p < 0.001). There were no deaths in subjects with a score of less than two. Scores were stable over time. An imaging-based risk score allows risk stratification of subjects with DMD. This can be quickly calculated during a clinic visit to identify subjects at greatest risk of early death.
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