Abstract
Introduction: Williams syndrome (WS) is a rare disease caused by a chromosomal microdeletion at 7q11.23 resulting in elastin insufficiency and vascular disease, most commonly supravalvar aortic stenosis. Previous studies show WS patients are at risk for cardiomyopathy, but, to date, no markers predict such disease. This study was designed to test the hypothesis that WS left ventricular (LV) longitudinal strain and longitudinal early diastolic strain rate differ significantly from controls and may identify those at risk of cardiomyopathy development. Methods: Echocardiograms were performed in 43 WS subjects and equal numbers of sex, age and BSA-matched controls enrolled in a prospective cross-sectional NIH study of end organ WS disease (ClinicalTrials.gov Identifier: NCT0284044). Myocardial strain analysis was performed using TomTec software by two independent observers to determine global longitudinal peak systolic strain (GLS) and early diastolic peak strain rate (DSR) in the apical 4 chamber view (A4C). Mann Whitney test was used for all comparisons. Results: WS subject mean cohort ages (years) were: group A: 7±2, n=12; group B: 13±2, n=11; group C: 26±2, n=10; group D: 48±9, n=10, and matched control mean age and sample size were not different. All subjects had ejection fraction>55%. Groups C and D WS subjects showed significantly diminished median GLS (%) compared to controls (Fig 1A): C: -20.6 vs. -24.6, P<0.04; D: -22.4 vs. -25.5, P<0.04. DSR (1/s) was significantly decreased in all WS age groups (P<0.02) and decreased with age compared to controls (Fig 1B): 1.25 vs. 2.2 to 0.9 vs. 1.0. Conclusion: WS subjects demonstrate decreased DSR indicating diminished diastolic function from childhood. GLS differences appeared in adulthood, possibly indicating early systolic impairment. This data suggests GLS and DSR may be useful in targeting therapies towards those WS patients at greatest risk of cardiomyopathy development.
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