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Eur J Cardiothorac Surg 2001;19:195-202
© 2001 Elsevier Science NL

Review

Congenital supravalvar aortic stenosis: a simple lesion?

^a Department of Cardiac Surgery, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA
^b Department of Pediatrics, Imperial College School of Medicine, National Heart and Lung Institute, London, UK
^c Department of Cardiology, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA

Received 14 July 2000; received in revised form 30 October 2000; accepted 4 December 2000.

Corresponding author. Tel.: +1-617-355-6894; fax: +1-617-734-6595
e-mail: stamm_c{at}hub.tch.harvard.edu

The underlying cause of congenital supravalvular aortic stenosis (SVAS) has recently been identified as a loss-of function mutation of the elastin gene on chromosome 7q11.23, resulting in an obstructive arteriopathy of varying severity, which is most prominent at the aortic sinutubular junction. The generalized nature of the disease explains the frequent association with stenoses of systemic and pulmonary arteries. Furthermore, localization of the supravalvular stenosis at the level of the commissures of the aortic valve has important implications for both aortic valve function and coronary circulation. This review summarizes the recent advances with regard to the pathogenesis of SVAS and describes the multitude of clinically relevant pathologic features other that the mere ‘supra-aortic’ narrowing that have important implications for surgical therapy.

Key Words: Aortic valve stenosis • Williams syndrome • Elastin • Thoracic surgery

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