title: Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in comparison to their first-degree male relatives: a comparative cardiovascular magnetic resonance study.
abstract: OBJECTIVE
  Duchenne (DMD) and Becker (BMD) muscular dystrophies are X-linked recessive disorders associated with both skeletal myopathy and progressive cardiomyopathy in males. Female DMD/BMD carriers (DMDc/BMDc) are mostly free of skeletal muscle symptoms, but they are also prone to cardiomyopathy. The aim of the current study was to characterize the frequency, pattern, and extent of cardiomyopathy in female DMD/BMD carriers (DMDc/BMDc) in comparison to their first-degree male MD relatives.
  
  
  RESULTS
  Thirty-six (age 44 ± 14 years) female MD carriers (20 DMDc and 16 BMDc) constituted the 'MD carrier group' and were prospectively enrolled. All MD carriers underwent a complete CMR study comprising cine- and late gadolinium enhancement (LGE) imaging. In 22 of these women ('female MD carrier comparison group', 7 DMD and 15 BMD), at least one first-degree male relative with a previously established diagnosis of MD underwent the same CMR protocol and was assigned to the 'male MD comparison group' (n = 24, 6 DMD and 18 BMD). In the total MD carrier group, 17 (47%) MD carriers had at least one pathological CMR finding [5 (14%) with a reduced left ventricular ejection fraction (LV-EF) and 16 (44%) with the presence of LGE]. All LGE-positive patients (n = 16) showed non-ischaemic LGE with subepicardial involvement of the LV lateral free wall being the most frequent pattern (13/16, 81%). Compared with BMDc, DMDc demonstrated more frequently a pathological CMR result (65 vs. 19%; P = 0.008)--in spite of being significantly younger (40 ± 11 vs. 50 ± 16 years, P = 0.038). In the male MD comparison group, the same LGE pattern as in female carriers was seen, but with a significantly higher prevalence of cardiac abnormalities compared with their female carrier relatives constituting the female MD comparison group (75 vs. 27%; P = 0.003).
  
  
  CONCLUSIONS
  Cardiac involvement is a frequent finding in female carriers of DMD, but less frequently observed in carriers of BMD. Those DMDc and BMDc with cardiac involvement demonstrate the same myocardial fibrosis pattern as their male counterparts with overt disease.
authors.affiliation: Department of Cardiology and Angiology, University Hospital Münster, Albert-Schweitzer-Campus 1, Building A1, Münster 48149, Germany.
authors.forename: Anca
authors.initials: A
authors.lastname: Florian
authors.affiliation: Division of Cardiology, Robert-Bosch-Krankenhaus, Stuttgart, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Rösch
authors.affiliation: Department of Cardiology and Angiology, University Hospital Münster, Albert-Schweitzer-Campus 1, Building A1, Münster 48149, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Bietenbeck
authors.affiliation: Department of Cardiology and Angiology, University Hospital Münster, Albert-Schweitzer-Campus 1, Building A1, Münster 48149, Germany.
authors.forename: Markus
authors.initials: M
authors.lastname: Engelen
authors.affiliation: Department of Cardiology and Angiology, University Hospital Münster, Albert-Schweitzer-Campus 1, Building A1, Münster 48149, Germany.
authors.forename: Jörg
authors.initials: J
authors.lastname: Stypmann
authors.affiliation: Department of Cardiology and Angiology, University Hospital Münster, Albert-Schweitzer-Campus 1, Building A1, Münster 48149, Germany.
authors.forename: Johannes
authors.initials: J
authors.lastname: Waltenberger
authors.affiliation: Division of Cardiology, Robert-Bosch-Krankenhaus, Stuttgart, Germany.
authors.forename: Udo
authors.initials: U
authors.lastname: Sechtem
authors.affiliation: Department of Cardiology and Angiology, University Hospital Münster, Albert-Schweitzer-Campus 1, Building A1, Münster 48149, Germany ali.yilmaz@ukmuenster.de ali.yilmaz@rbk.de.
authors.forename: Ali
authors.initials: A
authors.lastname: Yilmaz
mesh_terms: D000328:Adult; D055424:Cardiac-Gated Imaging Techniques; D003287:Contrast Media; D005260:Female; D006331:Heart Diseases / Q000000981:diagnostic imaging* / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000150:complications* / Q000235:genetics*; D011446:Prospective Studies
chemical_list: D003287:Contrast Media
keywords: cardiomyopathy; cardiovascular magnetic resonance; late gadolinium enhancement; muscular dystrophy