Key result
Occult cardiomyopathy was present in 3-33% of female carriers of Duchenne or Becker muscular dystrophy, with 13% having an ejection fraction <55%, and did not correlate with age or mutation type.
Cross-Sectional (n=130)
Occult cardiomyopathy is present in a subset of female DMD/BMD carriers but does not correlate with age or muscle symptoms, highlighting the need for screening but suggesting a variable or non-progressive course in some.
May warrant cardiac screening in female DMD/BMD carriers; leaves open progression risks and need for prospective studies.
INTRODUCTION: The significance of abnormal cardiac measures in asymptomatic females who harbor dystrophin gene mutations is controversial. METHODS: Echo-measures of ventricular function were compared with published norms in a cross-sectional study of 130 (age, 39 ± 15.7 years) "carriers" of Duchenne or Becker muscular dystrophy (DMD/BMD). Correlations between cardiomyopathy (CM) and mutation, creatine kinase (CK) levels, age, and muscle symptoms were investigated. RESULTS: Depending on definition, CM prevalence was 3-33%. Ejection fraction (Simpson method) was < 55% in 9 (13%) and < 40% in 2 (2.9%). Eleven (8.5%) had wall motion abnormalities. Left ventricular end-systolic dimensions were increased in 7 (5.7%) and end-diastolic in 17 (13.9%). CM did not correlate with mutation type, DMD or BMD phenotype, CK level, muscle symptoms, or age. CONCLUSIONS: Occult CM can be found by screening in DMD/BMD carriers. Its lack of age-correlation suggests that not all abnormalities progress. Optimum screening schedules require a better understanding of progressive CM. Muscle Nerve 55: 810-818, 2017.
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Mccaffrey et al. (2016) conducted a cross-sectional in Duchenne or Becker muscular dystrophy (DMD/BMD) carriers (n=130). Dystrophin gene mutation carrier status vs. Published norms was evaluated on Cardiomyopathy prevalence and echocardiographic measures of ventricular function. Occult cardiomyopathy was present in 3-33% of female carriers of Duchenne or Becker muscular dystrophy, with 13% having an ejection fraction <55%, and did not correlate with age or mutation type.
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