De Novo Obstruction After Supravalvular Aortic Stenosis Repair in Williams-Beuren Syndrome

doi:10.1016/j.athoracsur.2014.06.108

The Annals of Thoracic Surgery

Volume 99, Issue 5, May 2015, Pages 1806-1807

https://doi.org/10.1016/j.athoracsur.2014.06.108 Get rights and content

Williams-Beuren syndrome is characterized by diffuse arteriopathy due to elastin gene deficiency. We present a patient with de novo supravalvular stenosis due to excessive intimal hyperplasia after a previous repair. This case report supports in vitro and animal studies that have linked elastin deficiency to increased cellular proliferation in the vessel wall with the subsequent development of obstructive lesions.

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Supravalvular aortic stenosis seen in patients with WBS is a form of systemic elastin arteriopathy caused by deficient elastin deposition in the vessel wall [2]. In vitro and animal studies have linked elastin deficiency to increased cellular proliferation in the vessel wall with subsequent development of obstructive lesions 3, 4. The mechanism by which obstructive lesions develop is thought to be a two-step process, where injury-mediated remodelling occurs in the elastin-deficient thickened

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B.R. Pober et al.
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
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(2008)

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Case reportDe Novo Obstruction After Supravalvular Aortic Stenosis Repair in Williams-Beuren Syndrome

Section snippets

Comment

Am J Hum Genet

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

J Clin Invest

Case report
De Novo Obstruction After Supravalvular Aortic Stenosis Repair in Williams-Beuren Syndrome