Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance
- 1 December 1962
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Circulation
- Vol. 26 (6), 1235-1240
- https://doi.org/10.1161/01.cir.26.6.1235
Abstract
Four patients with supravalvular aortic stenosis are reported. In three of these patients a certain facial resemblance was striking, and these three patients were also mentally and physically retarded. The cases are very similar to the four cases recently reported in the literature. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance may constitute a previously unrecognized clinical syndrome. A systolic thrill and murmur most pronounced in the first right intercostal space and just below the clavicle, with an empty vascular pedicle on the roentgenogram, may be a clue to the clinical diagnosis of supravalvular aortic stenosis. Supravalvular aortic stenosis is best demonstrated by left ventriculography. A collateral circulation between the coronary arteries and the internal mammary artery has been shown in one patient.Keywords
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