Supravalvular Aortic Stenosis

Supravalvular aortic stenosis has been recognized as a distinct nonfamilial syndrome associated with peculiar facies and mental retardation (SVAS syndrome). It has also been described as a sporadic or familial lesion associated with normal somatic features and normal intelligence. Clinical and experimental data have implicated infantile hypercalcemia in the etiology of the SVAS syndrome. It had been suggested previously that the separation of SVAS into three distinct clinical forms was not absolute. The present report is concerned with a family in which five of nine siblings were found to have SVAS associated with somatic features typical of the SVAS syndrome but with normal intelligence. Chromosome studies were negative.