PMID- 26113120
OWN - NLM
STAT- MEDLINE
DCOM- 20161221
LR  - 20161230
IS  - 2047-2412 (Electronic)
IS  - 2047-2404 (Linking)
VI  - 17
IP  - 3
DP  - 2016 Mar
TI  - Cardiac involvement in female Duchenne and Becker muscular dystrophy carriers in 
      comparison to their first-degree male relatives: a comparative cardiovascular 
      magnetic resonance study.
PG  - 326-33
LID - 10.1093/ehjci/jev161 [doi]
AB  - AIMS: 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. METHODS AND 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). CONCLUSION: 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.
CI  - Published on behalf of the European Society of Cardiology. All rights reserved. (c) 
      The Author 2015. For permissions please email: journals.permissions@oup.com.
FAU - Florian, Anca
AU  - Florian A
AD  - Department of Cardiology and Angiology, University Hospital Munster, 
      Albert-Schweitzer-Campus 1, Building A1, Munster 48149, Germany.
FAU - Rosch, Sabine
AU  - Rosch S
AD  - Division of Cardiology, Robert-Bosch-Krankenhaus, Stuttgart, Germany.
FAU - Bietenbeck, Michael
AU  - Bietenbeck M
AD  - Department of Cardiology and Angiology, University Hospital Munster, 
      Albert-Schweitzer-Campus 1, Building A1, Munster 48149, Germany.
FAU - Engelen, Markus
AU  - Engelen M
AD  - Department of Cardiology and Angiology, University Hospital Munster, 
      Albert-Schweitzer-Campus 1, Building A1, Munster 48149, Germany.
FAU - Stypmann, Jorg
AU  - Stypmann J
AD  - Department of Cardiology and Angiology, University Hospital Munster, 
      Albert-Schweitzer-Campus 1, Building A1, Munster 48149, Germany.
FAU - Waltenberger, Johannes
AU  - Waltenberger J
AD  - Department of Cardiology and Angiology, University Hospital Munster, 
      Albert-Schweitzer-Campus 1, Building A1, Munster 48149, Germany.
FAU - Sechtem, Udo
AU  - Sechtem U
AD  - Division of Cardiology, Robert-Bosch-Krankenhaus, Stuttgart, Germany.
FAU - Yilmaz, Ali
AU  - Yilmaz A
AD  - Department of Cardiology and Angiology, University Hospital Munster, 
      Albert-Schweitzer-Campus 1, Building A1, Munster 48149, Germany 
      ali.yilmaz@ukmuenster.de ali.yilmaz@rbk.de.
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150625
PL  - England
TA  - Eur Heart J Cardiovasc Imaging
JT  - European heart journal. Cardiovascular Imaging
JID - 101573788
RN  - 0 (Contrast Media)
SB  - IM
MH  - Adult
MH  - Cardiac-Gated Imaging Techniques
MH  - Contrast Media
MH  - Female
MH  - Heart Diseases/*diagnostic imaging/*etiology
MH  - Heterozygote
MH  - Humans
MH  - Magnetic Resonance Imaging/*methods
MH  - Male
MH  - Muscular Dystrophy, Duchenne/*complications/*genetics
MH  - Prospective Studies
OTO - NOTNLM
OT  - cardiomyopathy
OT  - cardiovascular magnetic resonance
OT  - late gadolinium enhancement
OT  - muscular dystrophy
EDAT- 2015/06/27 06:00
MHDA- 2016/12/22 06:00
CRDT- 2015/06/27 06:00
PHST- 2015/03/13 00:00 [received]
PHST- 2015/05/28 00:00 [accepted]
PHST- 2015/06/27 06:00 [entrez]
PHST- 2015/06/27 06:00 [pubmed]
PHST- 2016/12/22 06:00 [medline]
AID - jev161 [pii]
AID - 10.1093/ehjci/jev161 [doi]
PST - ppublish
SO  - Eur Heart J Cardiovasc Imaging. 2016 Mar;17(3):326-33. doi: 10.1093/ehjci/jev161. 
      Epub 2015 Jun 25.