Which statement about supravalvular aortic stenosis is true?

Which statement about supravalvular aortic stenosis is true?

• A. Exclusively valvular
• B. Not associated with Williams-Beuren syndrome
• C. It is associated with deletions on chromosome 7 elastin gene
• D. It is due to abnormal fetal development of the mitral valve

Answer: (C)

Supravalvular aortic stenosis reflects elastin deficiency in the proximal aorta, causing narrowing just above the aortic valve. This is classically due to a microdeletion on chromosome 7 that includes the elastin gene, which is why the association with elastin deletions on chromosome 7 is correct. This condition is often seen in Williams-Beuren syndrome, linking the elastin gene deletion to a broader syndrome features. The problem lies in the arterial media above the valve, not in a valvular defect, and it is not caused by abnormal fetal development of the mitral valve.

Supravalvular aortic stenosis reflects elastin deficiency in the proximal aorta, causing narrowing just above the aortic valve. This is classically due to a microdeletion on chromosome 7 that includes the elastin gene, which is why the association with elastin deletions on chromosome 7 is correct. This condition is often seen in Williams-Beuren syndrome, linking the elastin gene deletion to a broader syndrome features. The problem lies in the arterial media above the valve, not in a valvular defect, and it is not caused by abnormal fetal development of the mitral valve.