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Cardiac involvement in female carriers of duchenne or becker muscular dystrophy
Author(s) -
Mccaffrey Thomas,
Guglieri Michela,
Murphy Alexander P.,
Bushby Katherine,
Johnson Anna,
Bourke John P.
Publication year - 2017
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25445
Subject(s) - duchenne muscular dystrophy , medicine , muscular dystrophy , cardiology , asymptomatic , cardiomyopathy , ejection fraction , creatine kinase , dystrophin , heart failure , endocrinology
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