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1000
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Abstract/Summary
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<jats:p><jats:bold>Objective:</jats:bold> To determine the frequency and extent of cardiac involvement in female carriers of pathogenic variants in <jats:italic>DMD</jats:italic>, 53 women were examined through an observational, cross-sectional study.</jats:p><jats:p><jats:bold>Methods:</jats:bold> Genetically verified female carriers of pathogenic <jats:italic>DMD</jats:italic> variants were examined by cardiac magnetic resonance imaging (CMR) with late gadolinium enhancement, echocardiography, 24-h Holter monitoring, ECG, and blood concentrations of skeletal and cardiac muscle biomarkers.</jats:p><jats:p><jats:bold>Results:</jats:bold> Fifty-three female carriers of pathogenic <jats:italic>DMD</jats:italic> variants (mean age 49.6 years, 33 associated with DMD, and 20 with BMD) were included in the study. Sixty-two percent had cardiac dysfunction on echocardiography. On CMR, 49% had myocardial fibrosis, 35% had dilated left ventricles, and 10% had left ventricular hypertrophy. ECGs were abnormal in 72%, and abnormal Holter monitoring was found in 43%. Age did not correlate with myocardial fibrosis or cardiac dysfunction. Myocardial fibrosis was more frequent in carriers of pathogenic variants associated with DMD vs. BMD (61 vs. 28%, <jats:italic>p</jats:italic> = 0.02).</jats:p><jats:p><jats:bold>Conclusion:</jats:bold> This study shows that cardiac involvement, affecting both structure and function of the heart, is found in over 2/3 of women with a pathogenic <jats:italic>DMD</jats:italic> variant. The study supports early cardiac screening, including ECG, Holter, and cardiac imaging, in this group of carriers, so that symptoms related to pathogenic variants in <jats:italic>DMD</jats:italic> can be recognized, and relevant treatment can be initiated. Longitudinal studies are needed to assess morbidity and mortality related to single, pathogenic <jats:italic>DMD</jats:italic> variants in women.</jats:p>
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