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(Chest. 1969;55:372-379.)
© 1969 American College of Chest Physicians

Supravalvular Aortic Stenosis

Report of a Family with Peculiar Somatic Features and Normal Intelligence

Andrew J. Lewis M.D.1; Patrick A. Ongley M.B., Ch.B., F.C.C.P.2; Owings W. Kincaid M.D.3; and Donald G. Ritter M.D., F.C.C.P.2

1 Mayo Clinic and Mayo Foundation: Section of Medicine
2 Mayo Clinic and Mayo Foundation: Section of Pediatrics
3 Mayo Clinic and Mayo Foundation: Section of Roentgenology

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.






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Copyright © 1969 by the American College of Chest Physicians.