CTICasesSupravalvular Aortic Stenosis in Williams Syndrome
Imaging findings
CT angiography in a 12-year-old child shows diffuse, severe hypoplasia and narrowing of the ascending aorta (supravalvular aortic stenosis) immediately distal to the coronary ostia, with a relatively normal aortic valve.
Key takeaways
Williams syndrome is a congenital neurodevelopmental disorder characterized by elastin gene abnormalities. Cardiovascular features typically include supravalvular aortic stenosis (which can be focal or diffuse/hypoplastic) and peripheral pulmonary stenosis. Careful evaluation of both the aorta and pulmonary arteries is required on imaging.
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