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Supravalvar Aortic Stenosis

  Case radiograph

Contributor: Stephen Marshalko, MD PhD

Echo studies


Supravalvular aortic stenosis is an uncommon form of aortic obstruction. Its' characteristic is a local narrowing of the proximal aortic root just above the sino-tubular junction. Though it can be an independent finding, it is often associated with Williams' Syndrome.

Williams syndrome, originally described in the early 1960's, is characterized by 'elfin' facial features including periorbital swelling, anteverted nose, prominent epicathal folds and prominent 'starburst' pattern in the eye's iris. There can also be mental deficiency, short stature and infantile hypercalcemia. The genetic basis of Williams syndrome arises from deletion of the elastin gene on chromosome 7. Because the elastin protein is involved in providing strength and elasticity to blood vessel walls, generalized arterial stenoses of the aorta, pulmonary arteries, brachiocephalic and renal arteries is a distinguishing feature.

Echocardiography and angiography reveal the relevant findings, including supravalvular aortic stenosis and peripheral pulmonary artery stenosis. Diagnostic testing employing fluorescence in situ hybridization (FISH) is confirmatory. Percutaneous arterial stenting has been used to correct peripheral vascular stenoses, while surgical correction, either with patch augmentation or tube graft replacement, is favored for supravalvular aortic stenosis.

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