Volume 23, Issue 8 , Pages 848-853, August 2010
Exercise-Induced Left Ventricular Systolic Dysfunction in Women Heterozygous for Dystrophinopathy
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 ± 0.10 vs 0.62 ± 0.07, P = .02). After exercise, the mean LVEF fell to 0.53 ± 0.14 in heterozygotes but rose to 0.73 ± 0.07 in controls (P < .001). Twenty-one of 24 dystrophinopathy heterozygotes demonstrated ≥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.
Keywords: Cardiomyopathy, Women, Exercise, Heart failure, Echocardiography
Abbreviation: LVEF, Left ventricular ejection fraction
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This work was supported by a research grant from the Muscular Dystrophy Association (Tucson, AZ) and by a Paul D. Wellstone Muscular Dystrophy Cooperative Research Center Grant from the National Institutes of Health (Bethesda, MD). Dr Campbell is an investigator of the Howard Hughes Medical Institute (Chevy Chase, MD).
PII: S0894-7317(10)00419-0
doi:10.1016/j.echo.2010.05.007
© 2010 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.
Volume 23, Issue 8 , Pages 848-853, August 2010
