Document Detail

Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.
MedLine Citation:
PMID:  20646909     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Journal Article     Date:  2010-06-19
Journal Detail:
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:
Created Date:  2010-07-27     Completed Date:  2010-12-27     Revised Date:  2014-09-24    
Medline Journal Info:
Nlm Unique ID:  8801388     Medline TA:  J Am Soc Echocardiogr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  848-53     Citation Subset:  IM    
Copyright Information:
Copyright 2010 American Society of Echocardiography. Published by Mosby, Inc. All rights reserved.
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MeSH Terms
Dystrophin / genetics*
Exercise Test
Loss of Heterozygosity / genetics
Reproducibility of Results
Sensitivity and Specificity
Ventricular Dysfunction, Left / genetics*,  ultrasonography*
Grant Support
Reg. No./Substance:
Comment In:
J Am Soc Echocardiogr. 2010 Aug;23(8):854-6   [PMID:  20659664 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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