CT angiogram confirmed the tight supravalvular aortic stenosis with heavy calcification along with patent coronary vessels (Figure-2).
Thus on the basis of history, physical examination showing xanthomata, findings of CT angiogram and results of lipid profile of the patient and his family, he was diagnosed as a case of homozygous Familial Hypercholestremia (type II hyperlipoproteinemia) with supravalvular aortic stenosis.
The patient is currently awaiting aortic root reconstruction surgery to correct his supravalvular aortic stenosis with calcification.
Congenital supravalvular aortic stenosis is a rare congenital cardiac anomaly occurring as a major feature of Williams syndrome.
So-called supravalvular aortic stenosis is functionally and structurally a disease of entire aortic root.
The first limitation concerns the surgical preference for supravalvular aortic stenosis relief.
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.
Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome.
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.
Left ventricular outflow obstruction: Subaortic stenosis, bicuspid aortic valve,
supravalvular aortic stenosis and coarctation of the aorta.
In conclusion, supravalvular aortic stenosis is a complex and uncommon disease that requires careful preoperative evaluation and proper selection of surgical treatment method.
Idiopathic hypercalcemia and supravalvular aortic stenosis.
