Supravalvular Aortic Stenosis: Focal Stenosis

Supravalvular aortic stenosis (SVAS) is the rarest type of left ventricular outflow tract obstruction. It is elastin (ELN) arteriopathy that disproportionately affects the supravalvular aorta. SVAS is a generalized disease of the arterial wall caused by the thickening of the media or intima layers, not related to atherosclerosis, which results in narrowing of the lumen of the ascending aorta or other arteries. SVAS usually affects branches of the pulmonary and coronary arteries, whereas cerebral circulation, descending aorta, renal arteries, and other aortic tributaries are commonly spared. It is classically associated with Williams–Beuren syndrome (WBS), a complex developmental genomic disorder that presents with neurobehavioral, craniofacial, cardiovascular, and metabolic abnormalities. Patients with ELN arteriopathy usually present a systolic murmur related to the SVAS and become symptomatic symptoms before the age of 20 years. When symptoms develop, they are similar to valvular aortic stenosis (dyspnea, angina, and syncope). Video by Maged Al Ali MD.