title: Cardiac pathologies in female carriers of Duchenne muscular dystrophy assessed by cardiovascular magnetic resonance imaging.
abstract: OBJECTIVE
  Duchenne muscular dystrophy (DMD) is the most common and severe dystrophinopathy. DMD carriers rarely present with clinical symptoms, but may suffer from cardiac involvement. Because echocardiographic findings are inconsistent and cardiac magnetic resonance imaging (CMRI) data are limited, this study sought to investigate asymptomatic carriers for cardiac abnormalities using CMRI.
  
  
  METHODS
  Fifteen genetically confirmed DMD carriers (age, 32.3 ± 10.2 years) were prospectively examined on a 1.5T MR system. Cine, T2, and late-gadolinium-enhanced (LGE) images were acquired, and were evaluated in consensus by two experienced readers. Left ventricular (LV) parameters were analysed semiautomatically, normalized to BSA.
  
  
  RESULTS
  Normalized LV end-diastolic volume was increased in 7% (73.7 ± 16.8 ml/m(2); range, 48-116 ml/m(2)) and normalized LV end-systolic volume in 20% (31.5 ± 13.3 ml/m(2); range, 15-74 ml/m(2)). EF was reduced in 33% (58.4 ± 7.6%; range, 37-69%) and normalized LV myocardial mass in 80% (40.5 ± 6.8 g/m(2); range, 31-55 g/m(2)). In 80%, regional myocardial thinning was detected in more than one segment. In 13% and 40%, apical-lateral accentuation of LV non-compaction was present. LGE was found in 60% (midmyocardial inferolateral accentuation).
  
  
  CONCLUSIONS
  Given the high frequency of cardiac pathologies detected by CMRI, regular cardiac risk assessment is advisable for DMD carriers. Besides clinical examination, CMRI is an excellent tool for this purpose.
  
  
  CONCLUSIONS
  • Fifteen Duchenne muscular dystrophy carriers investigated using CMRI all showed cardiac pathologies. • Myocardial mass reduction, regional myocardial thinning, and late gadolinium enhancement were common. • Regular cardiac risk assessment is thus advisable in Duchenne muscular dystrophy carriers. • Besides clinical examination, CMRI is an excellent tool for this purpose.
authors: Department of Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Hufelandstr. 55, 45122, Essen, Germany, juliane.schelhorn@uk-essen.de.
authors: Juliane
authors: J
authors: Schelhorn
authors: Anne
authors: A
authors: Schoenecker
authors: Ulrich
authors: U
authors: Neudorf
authors: Haemi
authors: H
authors: Schemuth
authors: Felix
authors: F
authors: Nensa
authors: Kai
authors: K
authors: Nassenstein
authors: Michael
authors: M
authors: Forsting
authors: Ulrike
authors: U
authors: Schara
authors: Thomas
authors: T
authors: Schlosser
mesh_terms: D000293:Adolescent; D000328:Adult; D003287:Contrast Media; D005260:Female; D019786:Gadolinium DTPA; D006352:Heart Ventricles / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007089:Image Enhancement; D018810:Magnetic Resonance Angiography; D019028:Magnetic Resonance Imaging, Cine; D008875:Middle Aged; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics / Q000473:pathology*; D009206:Myocardium / Q000473:pathology; D055815:Young Adult
chemical_list: D003287:Contrast Media; D019786:Gadolinium DTPA