PMID- 32473283
OWN - NLM
STAT- MEDLINE
DCOM- 20210514
LR  - 20210514
IS  - 1874-1754 (Electronic)
IS  - 0167-5273 (Linking)
VI  - 316
DP  - 2020 Oct 1
TI  - Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by 
      exercise and cardiac MRI testing.
PG  - 257-265
LID - S0167-5273(20)30477-0 [pii]
LID - 10.1016/j.ijcard.2020.05.052 [doi]
AB  - BACKGROUND: Varied detection methods have resulted in conflicting reports on the 
      prevalence of cardiac disease in Duchenne and Becker muscular dystrophy carriers 
      (MDC). METHODS: We performed a prospective cohort study of 77 
      genetically-confirmed MDC mothers, 22 non-carrier mothers, and 25 controls. All 
      participants underwent Cardiopulmonary Exercise Testing (CPET) and Cardiac 
      Magnetic Resonance imaging (CMR). RESULTS: 25% of carriers had ventricular ectopy 
      in recovery of exercise (RecVE) as compared to 1 non-carrier and no controls 
      (p = .003). No difference in age or maximal oxygen consumption was noted. 11 
      carriers had abnormal (<55%) left ventricular ejection fraction by CMR. Evidence 
      of late gadolinium enhancement (LGE) was noted in 48% of MDC, 1 non-carrier 
      patient and no control subjects (p < .0001). Subset analysis of LGE+ and LGE- 
      subjects revealed differences in age (44.1 v 38.6 yrs.; p = .005), presence of 
      RecVE, (38.9% v 10.5%, p = .004), and high serum creatine kinase (CK) (> 289 U/l; 
      52.8% v 31.6%, p = .065). CONCLUSION: We describe the prevalence of disease using 
      CPET and CMR in genetically-proven MDC. 49% of carriers had fibrosis, opposed to 
      5% of non-carriers, highlighting the importance of genetic testing in this 
      population. Despite cardiomyopathy, functional assessment by treadmill was 
      normal, illustrating the discrepancy in cardiac and skeletal muscle impacts. Age, 
      RecVE and serum CK appear to have an important role in predicting cardiomyopathy. 
      Serum CK levels suggest that a systemic higher global disease severity and not 
      tissue heterogeneity may be the etiology for greater cardiac disease and 
      relatively spared skeletal muscle disease in this population. Clinical Trial 
      Registration 
      https://clinicaltrials.gov/ct2/show/NCT02972580?term=mendell&cond=Duchenne+Muscular+Dystrophy&rank=5; 
      ClinicalTrials.gov Identifier: NCT02972580.
CI  - Copyright (c) 2020 Elsevier B.V. All rights reserved.
FAU - Mah, May Ling
AU  - Mah ML
AD  - The Heart Center, Nationwide Children's Hospital, Ohio State University, 
      Columbus, OH, United States of America. Electronic address: 
      mayling.mah@nationwidechildrens.org.
FAU - Cripe, Linda
AU  - Cripe L
AD  - The Heart Center, Nationwide Children's Hospital, Ohio State University, 
      Columbus, OH, United States of America.
FAU - Slawinski, Michelle K
AU  - Slawinski MK
AD  - The Heart Center, Nationwide Children's Hospital, Ohio State University, 
      Columbus, OH, United States of America.
FAU - Al-Zaidy, Samiah A
AU  - Al-Zaidy SA
AD  - Center for Gene Therapy Research Institute at Nationwide Children's Hospital, 
      Dept. of Pediatrics and Neurology, Ohio State University, Columbus, OH, United 
      States of America.
FAU - Camino, Eric
AU  - Camino E
AD  - Center for Gene Therapy Research Institute at Nationwide Children's Hospital, 
      Dept. of Pediatrics and Neurology, Ohio State University, Columbus, OH, United 
      States of America.
FAU - Lehman, Kelly J
AU  - Lehman KJ
AD  - Center for Gene Therapy Research Institute at Nationwide Children's Hospital, 
      Dept. of Pediatrics and Neurology, Ohio State University, Columbus, OH, United 
      States of America.
FAU - Jackson, Jamie L
AU  - Jackson JL
AD  - Center for Biobehavioral Health, Nationwide Children's Hospital, Columbus, OH, 
      United States of America.
FAU - Iammarino, Megan
AU  - Iammarino M
AD  - Center for Gene Therapy Research Institute at Nationwide Children's Hospital, 
      Dept. of Pediatrics and Neurology, Ohio State University, Columbus, OH, United 
      States of America.
FAU - Miller, Natalie
AU  - Miller N
AD  - Center for Gene Therapy Research Institute at Nationwide Children's Hospital, 
      Dept. of Pediatrics and Neurology, Ohio State University, Columbus, OH, United 
      States of America.
FAU - Mendell, Jerry R
AU  - Mendell JR
AD  - Center for Gene Therapy Research Institute at Nationwide Children's Hospital, 
      Dept. of Pediatrics and Neurology, Ohio State University, Columbus, OH, United 
      States of America.
FAU - Hor, Kan N
AU  - Hor KN
AD  - The Heart Center, Nationwide Children's Hospital, Ohio State University, 
      Columbus, OH, United States of America.
LA  - eng
SI  - ClinicalTrials.gov/NCT02972580
PT  - Journal Article
DEP - 20200527
PL  - Netherlands
TA  - Int J Cardiol
JT  - International journal of cardiology
JID - 8200291
RN  - 0 (Contrast Media)
RN  - AU0V1LM3JT (Gadolinium)
SB  - IM
MH  - Adult
MH  - *Cardiomyopathies/diagnostic imaging/epidemiology/genetics
MH  - Contrast Media
MH  - Gadolinium
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Magnetic Resonance Imaging, Cine
MH  - *Muscular Dystrophy, Duchenne/diagnostic imaging/epidemiology/genetics
MH  - Prospective Studies
MH  - Stroke Volume
MH  - Ventricular Function, Left
OTO - NOTNLM
OT  - Cardiac magnetic resonance imaging
OT  - Cardiomyopathy
OT  - Duchenne carrier
OT  - Late gadolinium enhancement
OT  - Peak oxygen uptake
OT  - T1 mapping
OT  - Ventricular ectopy
EDAT- 2020/05/31 06:00
MHDA- 2021/05/15 06:00
CRDT- 2020/05/31 06:00
PHST- 2020/01/31 00:00 [received]
PHST- 2020/05/14 00:00 [revised]
PHST- 2020/05/15 00:00 [accepted]
PHST- 2020/05/31 06:00 [pubmed]
PHST- 2021/05/15 06:00 [medline]
PHST- 2020/05/31 06:00 [entrez]
AID - S0167-5273(20)30477-0 [pii]
AID - 10.1016/j.ijcard.2020.05.052 [doi]
PST - ppublish
SO  - Int J Cardiol. 2020 Oct 1;316:257-265. doi: 10.1016/j.ijcard.2020.05.052. Epub 
      2020 May 27.