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Cardiac involvement in female carriers of duchenne or becker muscular dystrophy

Lookup NU author(s): Professor Michela GuglieriORCiD, Dr Alex Murphy, Emerita Professor Katherine Bushby, Dr John Bourke


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© 2016 Wiley Periodicals, Inc. 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.

Publication metadata

Author(s): Mccaffrey T, Guglieri M, Murphy AP, Bushby K, Johnson A, Bourke JP

Publication type: Article

Publication status: Published

Journal: Muscle and Nerve

Year: 2017

Volume: 55

Issue: 6

Pages: 810-818

Print publication date: 01/06/2017

Online publication date: 19/10/2016

Acceptance date: 18/10/2016

ISSN (print): 0148-639X

ISSN (electronic): 1097-4598

Publisher: John Wiley and Sons Inc.


DOI: 10.1002/mus.25445


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