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Williams Syndrome with Supravalvular Aortic Stenosis and Pulmonary Artery Narrowing

Williams Syndrome with Supravalvular Aortic Stenosis and Pulmonary Artery Narrowing▶ Watch on YouTube — age-restricted, cannot embed here

Imaging findings

Diffuse narrowing of the entire supravalvular aorta from the sinotubular junction, measuring approximately 6-7 mm throughout, without normal tapering. Associated relatively mild narrowing of the right pulmonary artery, while the left pulmonary artery was normal.

Key takeaways

This is a genetically confirmed case of Williams syndrome, which is associated with diffuse supravalvular aortic stenosis and can involve pulmonary artery narrowing. While often suspected, true positive cases are relatively uncommon to encounter.

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