Supravalvular Aortic Stenosis
Also written as: SVAS — Supravalvular Aortic Stenosis
A form of congenital aortic stenosis characterized by narrowing of the ascending aorta above the level of the aortic valve.
Full Definition
Supravalvular aortic stenosis (SVAS) is a congenital heart defect involving narrowing of the ascending aorta above the aortic valve, typically at the sinotubular junction. The condition can present as a discrete fibrous ridge, diffuse hypoplasia of the ascending aorta, or hourglass deformity. SVAS is strongly associated with Williams syndrome, a genetic disorder caused by deletion of the elastin gene on chromosome 7. The stenosis creates a pressure gradient between the left ventricle and the ascending aorta, and may be associated with coronary artery ostial stenosis due to the high-pressure environment in the aortic root. Surgical repair typically involves patch augmentation of the narrowed aortic segment, and coronary artery intervention may be necessary.
Usage
Usage note: Distinguish from valvular and subvalvular forms of aortic stenosis. Note association with Williams syndrome when present.
In Context
- "Supravalvular aortic stenosis was diagnosed in a child with Williams syndrome and characteristic facial features." — Genetics cardiology consultation
- "Patch aortoplasty successfully relieved the supravalvular aortic stenosis with good postoperative gradients." — Congenital cardiac surgery operative report