title: Cooperative International Neuromuscular Research Group Duchenne Natural History Study demonstrates insufficient diagnosis and treatment of cardiomyopathy in Duchenne muscular dystrophy.
abstract: BACKGROUND
  Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD).
  
  
  METHODS
  This investigation was a cross-sectional cross-sectional analysis of clinical data from the multi-institutional Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study of 340 DMD patients aged 2-28 years. Cardiomyopathy was defined as shortening fraction (SF) <28% or ejection fraction (EF) <55%.
  
  
  RESULTS
  Two hundred thirty-one participants reported a prior clinical echocardiogram study, and 174 had data for SF or EF. The prevalence of cardiomyopathy was 27% (47 of 174), and it was associated significantly with age and clinical stage. The association of cardiomyopathy with age and clinical stage was not changed by glucocorticoid use as a covariate (P > 0.68). In patients with cardiomyopathy, 57% (27 of 47) reported not taking any cardiac medications. Cardiac medications were used in 12% (15 of 127) of patients without cardiomyopathy.
  
  
  CONCLUSIONS
  We found that echocardiograms were underutilized, and cardiomyopathy was undertreated in this DMD natural history cohort.
authors.affiliation: Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.
authors.forename: Christopher
authors.initials: C
authors.lastname: Spurney
authors.forename: Reiko
authors.initials: R
authors.lastname: Shimizu
authors.forename: Lauren P
authors.initials: LP
authors.lastname: Morgenroth
authors.forename: Hanna
authors.initials: H
authors.lastname: Kolski
authors.forename: Heather
authors.initials: H
authors.lastname: Gordish-Dressman
authors.forename: Paula R
authors.initials: PR
authors.lastname: Clemens
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D035843:Biomedical Research; D009202:Cardiomyopathies / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007391:International Cooperation; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications*; D018709:Statistics, Nonparametric; D055815:Young Adult
chemical_list: D005938:Glucocorticoids
keywords: Duchenne muscular dystrophy; cardiomyopathy; echocardiogram; glucocorticoid; natural history