Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
Barbara R. Pober, … , Mark Johnson, Zsolt Urban
Barbara R. Pober, … , Mark Johnson, Zsolt Urban
Published May 1, 2008
Citation Information: J Clin Invest. 2008;118(5):1606-1615. https://doi.org/10.1172/JCI35309.
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Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

Abstract

Williams-Beuren syndrome (WBS) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of medical and cognitive findings, with a hallmark feature of generalized arteriopathy presenting as stenoses of elastic arteries and hypertension. Human and mouse studies establish that defects in the elastin gene, leading to elastin haploinsufficiency, underlie the arteriopathy. In this review we describe potential links between elastin expression and arteriopathy, possible explanations for disease variability, and current treatment options and their limitations, and we propose several new directions for the development of nonsurgical preventative therapies based on insights from elastin biology.

Authors

Barbara R. Pober, Mark Johnson, Zsolt Urban

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