The patient is currently awaiting aortic root reconstruction surgery to correct his supravalvular aortic stenosis with calcification.
Most common cardiovascular presentation in homozygous Familial Hypercholestraemia is premature ischaemic heart disease, but relatively few cases present with earlier anginal symptoms due to atherosclerotic involvement of aortic root or supravalvular aortic stenosis.8 There should be a high index of clinical suspicion in considering valvular heart disease when chest pain is reported with clinical and laboratory features suggesting homozygous Familial Hypercholestrolaemia in young adults.
An earlier intervention of supravalvular aortic stenosis along with lipid-lowering therapy decreases morbidity and mortality.9 Guyton JR et al reported in their study that a combination treatment with statin, ezetimibe and extended-release niacin may prove to be more beneficial than any of these drugs used alone.10 Statin therapy also has the added advantage of improving endothelial dysfunction in Familial Hypercholesterolaemia patients.
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.
(3.) Denie JJ, Verheugt AR Supravalvular aortic stenosis. Circulation 1958; 18: 902-8.
Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome.
A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.
Congenital supravalvular aortic stenosis. A morphological study with attempt at classification.
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. Documentation of a new syndrome.