Key result
A mid-aged patient with Williams-Beuren syndrome and previous childhood Doty technique repair presented with severe combined aortic valve disease, panaortic stenosis, and brachiocephalic artery stenosis.
Case Report (n=1)
This case highlights the complex late cardiovascular complications, including panaortic stenosis and combined aortic valve disease, that can occur in adult patients with Williams-Beuren syndrome who underwent childhood repair of supravalvular aortic stenosis.
Lifelong surveillance for late aortic complications is prudent after childhood repair in Williams-Beuren syndrome; leaves open optimal adult reintervention strategies.
Williams–Beuren syndrome is associated with various pathologies caused by a genetic mutation affecting elastin genes on chromosome 7. Elastin is a protein that plays an important role in cardiovascular tissues and is often associated with supravalvular aortic stenosis (SVAS). In this case, a mid-aged patient with previous valvuloplasty and aortic root enlargement using the Doty technique in the childhood presented with severe combined aortic valve disease and panaortic stenosis beginning at the proximal ascending aorta and further complicated by a proximal stenosis of the brachiocephalic artery.
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Katahira et al. (2020) conducted a case report in Williams-Beuren syndrome with supravalvular aortic stenosis (n=1). Late reoperation was evaluated. A mid-aged patient with Williams-Beuren syndrome and previous childhood Doty technique repair presented with severe combined aortic valve disease, panaortic stenosis, and brachiocephalic artery stenosis.
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