Cardiac MRI and Functional Outcomes in Female Carriers of Dystrophinopathies

Topic:

Clinical Management

Poster Number: 19 S

Author(s):

Audrey McKennitt, BS, UMass Chan Medical School, Evan Offord, MD, Division of Cardiovascular Medicine, Department of Medicine, UMass Chan Medical School, Stephen Chrzanowski, MD PhD, Duchenne Muscular Dystrophy Program, UMass Chan Medical School, Eleonora Silvana D'Ambrosio, MD, Neuromuscular Division, Department of Neurology, UMass Chan Medical School, Sarah Figueira, MBA, Duchenne Muscular Dystrophy Program, UMass Chan Medical School, Ethan Rowin, MD, Division of Cardiovascular Medicine, Department of Medicine, UMass Chan Medical School, Gerard Aurigemma, MD, Division of Cardiovascular Medicine, Department of Medicine, UMass Chan Medical School, Theo Meyer, MD, Division of Cardiovascular Medicine, Department of Medicine, UMass Chan Medical School, Jeffrey Shih, MD, Division of Cardiovascular Medicine, Department of Medicine, UMass Chan Medical School, Brenda Wong, MD, Duchenne Muscular Dystrophy Program, UMass Chan Medical School, Youssef Rahban, MD, Division of Cardiovascular Medicine, Department of Medicine, UMass Chan Medical School

Background – Up to 20% of female carriers of Duchenne muscular dystrophy (DMD) develop cardiomyopathy. Cardiac magnetic resonance imaging (cMRI) with late gadolinium enhancement (LGE) can detect myocardial fibrosis in this population; however, its relationship with cardiac function and gross motor performance remains incompletely defined.

Methods – We conducted a single-center retrospective cohort study of 38 genetically confirmed female carriers of DMD or Becker muscular dystrophy (BMD) enrolled in our clinic registry between February 2019 and June 2025. Left ventricular ejection fraction (LVEF), 6-minute walk test (6MWT) distance, and total fatigue scores were compared between patients with (LGE+) and without (LGE–) LGE using Welch’s t-test.

Results – Of the 38 carriers, 35 underwent at least one cMRI. Fifteen patients were LGE+, and 20 were LGE–. The two groups did not differ significantly in age, comorbidities or medication use. LVEF was lower in LGE+ carriers (56.0 ± 9.1 vs. 58.2 ± 4.9, P=0.41), though not statistically significant. 6MWT distance trended longer in the LGE+ group (569.0 ± 82.7 vs. 535.7 ± 102.7 m, P=0.30). Fatigue scores were significantly higher among LGE+ carriers (21.3 ± 17.4 vs. 8.2 ± 5.2, P=0.02).

Conclusion – In female DMD/BMD carriers, LGE on cMRI was linked to greater fatigue, but not reduced LVEF or 6MWT. Traditional measures may underestimate early subclinical cardiac involvement. Future studies incorporating advanced imaging may better detect early myocardial changes.