Mitral regurgitation without supravalvular aortic stenosis in Williams syndrome

2002 ◽  
Vol 16 (6) ◽  
pp. 257-259 ◽  
Author(s):  
H. Takagi ◽  
Yoshio Mori ◽  
Hisashi Iwata ◽  
Yukio Umeda ◽  
Yukiomi Fukumoto ◽  
...  
Keyword(s):  
Mitral Regurgitation ◽  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Supravalvular Aortic Stenosis

An infant with suspected missed diagnosis of Williams syndrome failed weaning off CPB after surgical correction of pulmonary stenosis: a case report and literature review

Perfusion ◽  
2021 ◽  
pp. 026765912110468
Author(s):  
Yuan Yuan ◽  
Ronghua Zhou
Keyword(s):  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Myocardial Protection ◽  
Developmental Disorder ◽  
Pulmonary Stenosis ◽  
Surgical Correction ◽  
Supravalvular Aortic Stenosis ◽  
Cardiac Insufficiency ◽  
Valvular Stenosis ◽  
Missed Diagnosis

Williams syndrome (WS) is a rare congenital developmental disorder caused by the deletion of between 26 and 28 genes on chromosome 7q11.23. For patients with WS, in view of the particularity of the supravalvular aortic stenosis, choosing appropriate arterial cannula, maintaining higher perfusion pressure as well as strengthening myocardial protection during cardiopulmonary bypass (CPB) is essential to the clinical outcome. Here, we report a child with pulmonary artery valvular stenosis who failed to wean off CPB because of malignant arrhythmias and cardiac insufficiency after surgical correction of pulmonary valvular stenosis. With the assistance of extracorporeal membrane oxygenation (ECMO), emergency cardiac catheterization revealed supravalvular aortic stenosis (SVAS), which suggests a suspected missed diagnosis of WS. Finally, under the support of ECMO, the cardiac function gradually returned to normal, and the child was discharged 23 days after surgery.

scholarly journals Anaesthetic management of a patient with Williams syndrome undergoing aortoplasty for supravalvular aortic stenosis

1998 ◽  
Vol 45 (12) ◽  
pp. 1203-1206 ◽  
Author(s):  
Shinji Kawahito ◽  
Hiroshi Kitahata ◽  
Hideyuki Kimura ◽  
Katsuya Tanaka ◽  
Yoko Sakai ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Anaesthetic Management ◽  
Supravalvular Aortic Stenosis

Supravalvular Aortic Stenosis Without Williams Syndrome

1996 ◽  
Vol 44 (04) ◽  
pp. 219-221 ◽  
Author(s):  
U. Özergin ◽  
G. Sunam ◽  
M. Yeniterzi ◽  
T. Yüksek ◽  
T. Solak ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Supravalvular Aortic Stenosis

Williams Syndrome

PEDIATRICS ◽  
1989 ◽  
Vol 84 (5) ◽  
pp. 922-923
Author(s):  
FRANK GREENBERG
Keyword(s):  
Aortic Stenosis ◽  
Williams Syndrome ◽  
Behavioral Phenotype ◽  
Point Of View ◽  
Supravalvular Aortic Stenosis ◽  
Facial Features ◽  
Multisystem Disorder

How we have come to an understanding of Williams syndrome as a multisystem disorder is reminiscent of the seven blind men and the elephant. Cardiologists such as Williams et al and Beuren described the cardiovascular manifestations of the condition, particularly supravalvular aortic stenosis, in 1961. Earlier, Fanconi et al and others reported cases of idiopathic hypercalcemia of infancy primarily from an endocrinologic point of view. In 1963, Black and Carter described the association of the two conditions with a set of dysmorphic facial features which, unfortunately, has been labeled `elfin' facies. The syndrome was described further in the 1970s by Jones and Smith. In 1978, because of the work of Bennett et al, the behavioral phenotype began to become known.

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