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Ryu, Cha, Kim, Sul, Coe, Lee, Chin, Choe, and Hong: A Case of Supravalvular Aortic Stenosis(Williams Syndrome)
Case Report
Korean Circulation Journal

Korean Circulation Journal 1985; 15(2): 345-352.

Published online: 30 June 1985

DOI: https://doi.org/10.4070/kcj.1985.15.2.345

A Case of Supravalvular Aortic Stenosis(Williams Syndrome)

Chuhl Joo Ryu, M.D., Tae Soo Cha, M.D., Dong Soo Kim, M.D., Jun Hee Sul, M.D., Chang Jun Coe, M.D., Sung Kyu Lee, M.D., Dong Shik Chin, M.D., Kyu Ok Choe, M.D., Sung Nok Hong, M.D.

Copyright © 1985 The Korean Society of Circulation

(open-access):

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Williams syndrome(Williams-Beuren Syndrome, Williams elfin facies syndrome) is a rare syndrome and this is the first case in Korea.
We experienced a case of Williams syndrome who was a 11 year old male child. He showed a characteristic facial appearance of this syndrome. A systolic thrill was palpable over the upper sternal borders and in the suprasternal notch. A Grade 3 (on the basis of 6) ejection systolic murmur was heard maximally over the right and left upper sternal borders and radiated over the entire precordium and into the neck. No manifestations of congestive cardiac failure were present. Pectus excavatum and inguinal hernia were observed. he also had mental retardation (IQ=66).
Diagnosis was established by angiocardiography, and also aided by EKG and phonocardiography.
A brief review of the literatures was done.

Keywords: Williams syndrome, Supravalvular aortic stenosis

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