title: Cardiac involvement in female carriers of duchenne or becker muscular dystrophy.
abstract: The significance of abnormal cardiac measures in asymptomatic females who harbor dystrophin gene mutations is controversial.
  
  
  
  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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: The John Walton, Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.|Department of Cardiology, Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust, NE7 7DN, United Kingdom.
authors.forename: Thomas
authors.initials: T
authors.lastname: Mccaffrey
authors.affiliation: The John Walton, Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
authors.forename: Michela
authors.initials: M
authors.lastname: Guglieri
authors.affiliation: The John Walton, Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
authors.forename: Alexander P
authors.initials: AP
authors.lastname: Murphy
authors.affiliation: The John Walton, Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
authors.forename: Katherine
authors.initials: K
authors.lastname: Bushby
authors.affiliation: The John Walton, Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.|Department of Cardiology, Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust, NE7 7DN, United Kingdom.
authors.forename: Anna
authors.initials: A
authors.lastname: Johnson
authors.affiliation: The John Walton, Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.
authors.forename: John P
authors.initials: JP
authors.lastname: Bourke
mesh_terms: D000328:Adult; D017677:Age Distribution; D009202:Cardiomyopathies / Q000209:etiology* / Q000235:genetics; D015331:Cohort Studies; D003402:Creatine Kinase / Q000097:blood; D003430:Cross-Sectional Studies; D016189:Dystrophin / Q000235:genetics*; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000145:classification / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D006113:United Kingdom; D016277:Ventricular Function, Left / Q000502:physiology
chemical_list: C484258:DMD protein, human; D016189:Dystrophin; D003402:Creatine Kinase
keywords: Xp-21 mutation-carriers; cardiomyopathy; dystrophinopathy; echocardiography; prognosis; screening