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October 1964

Supravalvular Aortic Stenosis: Underdevelopment and Characteristic Facies

Author Affiliations

Cyrus Farrehi, MD, Division of Cardiology, Department of Medicine, University of Oregon Medical School, Portland, Ore 97201.; Research Associate, Division of Cardiology, Department of Medicine (Dr. Farrehi), Professor and Chairman, Department of Radiology (Dr. Dotter), and Professor of Medicine and Head of the Division of Cardiology, Department of Medicine (Dr. Griswold), University of Oregon Medical School.; From the Division of Cardiology of Department of Medicine and the Department of Radiology, University of Oregon Medical School.

Am J Dis Child. 1964;108(4):335-340. doi:10.1001/archpedi.1964.02090010337001

Congenital supravalvular aortic stenosis is due to a variety of anomalies in the proximal portion of the ascending aorta. Clinically, however, the most important lesion is a circular constriction of the aortic wall above the valve cusps. In certain patients with this type of anomaly, the supravalvular aortic stenosis constitutes one element of a clinical syndrome marked also by impaired growth, mental deficiency, and a characteristic facial appearance. Three patients with the features of this syndrome have been seen in this hospital since 1955. The purpose of this report is to present these patients whose syndrome was first described by Williams et al in New Zealand.

Case Reports  Case 1.—Patient 1 was seen at 8 years of age. He was born prematurely and his physical growth and mental development were retarded. He had frequent respiratory infections, exertional dyspnea, and fatigue for several years. A heart murmur was discovered at the