Korean Circ J.  1985 Jun;15(2):345-352. 10.4070/kcj.1985.15.2.345.

A Case of Supravalvular Aortic Stenosis (Williams Syndrome)

• Ryu CJ
• Cha TS
• Kim DS
• Sul JH
• Coe CJ
• Lee SK
• Chin DS
• Choe KO
• Hong SN

• KMID: 2229633
• DOI: http://doi.org/10.4070/kcj.1985.15.2.345

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.

Keyword

Williams syndrome; Supravalvular aortic stenosis

MeSH Terms

Angiocardiography
Aortic Stenosis, Supravalvular*
Child
Diagnosis
Electrocardiography
Estrogens, Conjugated (USP)
Facies
Funnel Chest
Heart Failure
Hernia, Inguinal
Humans
Intellectual Disability
Korea
Male
Neck
Phonocardiography
Systolic Murmurs
Williams Syndrome
Estrogens, Conjugated (USP)