Non-Syndromic Supravalvar Aortic Stenosis (SVAS)/Elastin Arteriopathy Syndrome

Our approach to non-syndromic supravalvar aortic stenosis (SVAS)/elastin arteriopathy syndrome

When your child has a rare, complex condition like SVAS, which occurs in 1 in 20,000 children in the United States, it’s important to seek out experts who fully understand the intricacies of the disorder. Our dedicated, multidisciplinary Cardiovascular Connective Tissue Disorders program was created with your child in mind. By pulling experts on connective tissue disorders together, we are well suited to care for your child’s health needs.

About non-syndromic supravalvar aortic stenosis/elastin arteriopathy syndrome

Nonsyndromic supravalvar aortic stenosis/elastin arteriopathy syndrome is a genetic disorder. As with other connective tissue disorders, it is linked to a mutation on a chromosome (7q11.2) that’s responsible for forming elastin. Abnormal elastin results in significant narrowing of the blood vessels and places strain on the heart.

Signs of SVAS/elastin arteriopathy syndrome 

  • Heart and artery problems: Blood vessels are often significantly narrowed, including the aorta, which causes high blood pressure and places strain on the heart. When the pulmonary arteries are narrowed, a child may need pulmonary artery reconstruction through Stanford Children’s Health’s world-renowned PAR program.
  • Poor muscle tone and lax joints.
  • Problems with teeth.