While this study is cross-sectional, we know from the natural history of disease that severe symptomatic supravalvular aortic stenosis
occurs in untreated patients.
Lowe, "Supravalvular aortic stenosis
," Circulation, vol.
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. Secondary causes such as nephrotic syndrome and hypothyroidism were excluded.
(5.) Sakamoto, H, Watanabe, Y, Sugimori, H, Heart failure due to severe supravalvular aortic stenosis
in painless type A aortic dissection.
Supravalvular aortic stenosis, however, is known to involve the whole aortic root and this has led to more intricate procedures being proposed asthe optimal surgical approach (8).
Congenital supravalvular aortic stenosis is a rare congenital cardiac anomaly occurring as a major feature of Williams syndrome.
All patients had the same profile with characteristic dysmorphic faces, heart abnormalities (typically supravalvular aortic stenosis, SVAS) and mental retardation.
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.
(1-3) Reports suggest that this microdeletion of the elastin gene is responsible for the typical vasculopathy of the Williams syndrome, namely supravalvular aortic stenosis
(SVAS) and pulmonary artery stenosis.
Supravalvular aortic stenosis
is an unusual form of obstruction of the left ventricle outflow tract, which occurs in 3% to 6% of cases of various types of aortic obstruction.
The discrete fibrous membrane was confirmed at surgery, and aortoplasty for supravalvular aortic stenosis
was performed successfully.