Journal
MUSCLE & NERVE
Volume 55, Issue 6, Pages 810-818Publisher
WILEY
DOI: 10.1002/mus.25445
Keywords
cardiomyopathy; dystrophinopathy; echocardiography; prognosis; screening; Xp-21 mutation-carriers
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Funding
- British Heart Foundation [SP/05/001/18616] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0512-10036] Funding Source: researchfish
- British Heart Foundation [SP/05/001/18616] Funding Source: Medline
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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, 39615.7 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.
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