Supravalvular aortic stenosis is a systemic elastin (ELN) arteriopathy that disproportionately
affects the supravalvular aorta. ELN arteriopathy may be present in a nonsyndromic …

Supravalvular aortic stenosis (SVAS) is an inherited obstructive vascular disease that affects
the aorta, carotid, coronary and pulmonary arteries. Previous molecular genetic data have …

Supravalvular aortic stenosis is an uncommon but well-characterized congenital form of left
ventricular outflow obstruction. The lesion involves the ascending aorta and often occurs in …

Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta which
can occur sporadically, as an autosomal dominant condition, or as one component of …

We have identified two elastin gene (ELN) mutations located in cis in two related families
with supravalvular aortic stenosis (SVAS). These mutations included an in-frame duplication …

Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta,
which can occur sporadically as an autosomal dominant condition or as one component of …

Supravalvular aortic stenosis (SVAS) occurs as an autosomal dominant trait or as part of the
phenotype of the usually sporadic condition Williams syndrome. SVAS is the result of …

Supravalvular aortic stenosis (SVAS) is a congenital vascular disorder that is frequently
progressive (1). It is characterized by narrowing of the ascending aorta, which can occur as …

Background Supravalvular aortic stenosis (SVAS) is a congenital heart disease affecting
approximately 1: 25,000 live births. SVAS may occur sporadically, be inherited in an …

We have screened the elastin gene for mutations responsible for supravalvular aortic
stenosis (SVAS) in two large, independently collected families with isolated (nonsyndromic) …