| Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. | |
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MedLine Citation:
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PMID: 20646909 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Mutations in the X-linked gene encoding dystrophin cause skeletal and cardiac muscle diseases in men. Female "carriers" also can develop overt disease. The purpose of this study was to ascertain the prevalence of cardiac contractile abnormalities in dystrophinopathy carriers. METHODS: Twenty-four dystrophinopathy heterozygotes and 24 normal women each underwent standard exercise stress echocardiography. RESULTS: Heterozygotes demonstrated mildly lower left ventricular ejection fractions (LVEFs) at rest compared with controls (0.56 + or - 0.10 vs 0.62 + or - 0.07, P = .02). After exercise, the mean LVEF fell to 0.53 + or - 0.14 in heterozygotes but rose to 0.73 + or - 0.07 in controls (P < .001). Twenty-one of 24 dystrophinopathy heterozygotes demonstrated > or = 1 of the following: abnormal resting LVEF, abnormal LVEF response to exercise, or exercise-induced wall motion abnormality. CONCLUSIONS: Women heterozygous for dystrophinopathy demonstrate significant left ventricular systolic dysfunction, which is unmasked by exercise. This finding has mechanistic implications for both inherited and acquired cardiac disease states. |
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Authors:
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Robert M Weiss; Richard E Kerber; Jane K Jones; Carrie M Stephan; Christina J Trout; Paul D Lindower; Kimberly S Staffey; Kevin P Campbell; Katherine D Mathews |
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Publication Detail:
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Type: Journal Article Date: 2010-06-19 |
Journal Detail:
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Title: Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography Volume: 23 ISSN: 1097-6795 ISO Abbreviation: J Am Soc Echocardiogr Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-07-27 Completed Date: 2010-12-27 Revised Date: 2011-09-26 |
Medline Journal Info:
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Nlm Unique ID: 8801388 Medline TA: J Am Soc Echocardiogr Country: United States |
Other Details:
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Languages: eng Pagination: 848-53 Citation Subset: IM |
Copyright Information:
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Copyright 2010 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved. |
Affiliation:
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University of Iowa Hospitals and Clinics, Division of Cardiovascular Medicine, Department of Internal Medicine, 200 Hawkins Drive, Room E317-1 GH, Iowa City, IA 52242, USA. robert-weiss@uiowa.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Dystrophin / genetics* Echocardiography Exercise Test Female Heterozygote* Humans Loss of Heterozygosity / genetics Reproducibility of Results Sensitivity and Specificity Ventricular Dysfunction, Left / genetics*, ultrasonography* |
| Grant Support | |
ID/Acronym/Agency:
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U54 NS053672-07/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Dystrophin |
| Comments/Corrections | |
Comment In:
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J Am Soc Echocardiogr. 2010 Aug;23(8):854-6
[PMID:
20659664
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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