Congenital supravalvar aortic stenosis: a simple lesion?

The underlying cause of congenital supravalvular aortic stenosis (SVAS) has recently been identified as a loss-of function mutation of the elastin gen e on chromosome 7q11.23, resulting in an obstructive arteriopathy of varyin g severity, which is most prominent at the aortic sinutubular junction. The generalized nature of the disease explains the frequent association with s tenoses of systemic and pulmonary arteries. Furthermore, localization of th e supravalvular stenosis at the level of the commissures of the aortic valv e has important implications for both aortic valve function and coronary ci rculation. This review summarizes the recent advances with regard to the pa thogenesis of SVAS and describes the multitude of clinically relevant patho logic features other that the men 'supra-aortic' narrowing that have import ant implications for surgical therapy. (C) 2001 Elsevier Science B.V, All r ights reserved.