Elastin and vascular disease

Supravalvular aortic stenosis (SVAS) is a vascular disease that primarily affects large arteries, like the aorta and pulmonary arteries. SVAS can be inherited as an isolated, autosomal dominant trait or as part of a complex developmental disorder, Williams syndrome. Molecular genetic studies indicate that mutations affecting part of an elastin allele cause autosomal dominant SVAS while submicroscopic deletions that disrupt the entire elastin gene (and presumably adjacent loci) are responsible for Williams syndrome. These studies suggest that loss of vascular elasticity from any cause may contribute to vascular obstruction.