scholarly journals The Syndrome of Supravalvular Aortic Stenosis, Peripheral Pulmonary Stenosis, Mental Retardation, and Characteristic Facies

1970 ◽  
Vol 34 (2) ◽  
pp. 109-115 ◽  
Author(s):  
KUNITAKE HASHIBA ◽  
AKIO ONO ◽  
SHUZO MATSUO ◽  
MASATO YOSHIOKA ◽  
KIYOSHI MORI ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Aortic Stenosis ◽  
Pulmonary Stenosis ◽  
Supravalvular Aortic Stenosis ◽  
Peripheral Pulmonary 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.

Comparison of Doty and McGoon techniques for surgical reconstruction of congenital supravalvular aortic stenosis

2021 ◽  
pp. 1-8
Author(s):  
Mehmet Biçer ◽  
Mehmet Dedemoğlu ◽  
Oktay Korun ◽  
Hüsnü F. Altın ◽  
Okan Yurdakök ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Surgical Repair ◽  
Pulmonary Stenosis ◽  
Surgical Techniques ◽  
Supravalvular Aortic Stenosis ◽  
Surgical Reconstruction ◽  
Residual Stenosis ◽  
Post Operative Period ◽  
Surgical Methods

Abstract Background: We aimed to compare the results of two surgical methods for the treatment of congenital supravalvular aortic stenosis. Methods: From May 2004 to January 2020, 29 patients underwent surgical repair for supravalvular aportic stenosis in a single centre. The perioperative evaluation of the patients was retrospectively reviewed. Results: Fifteen (51.7%) and 14 (48.2%) patients were treated with the Doty and the McGoon methods, respectively. The median age of our cohort was 4.5 (3.0–9.9) years. Ten (34.5%) patients had Williams–Beuren syndrome, and pulmonary stenosis was observed in 12 (41.3%) patients. The median follow-up time was 2.5 (0.7–7.3) years. On follow-up, five patients had residual stenosis with the McGoon technique and one with the Doty technique (p = 0.05). One patient died early in the post-operative period in the Doty group, and three patients were re-operated on due to restenosis in the McGoon group. Freedom from re-operation in the Doty group at 1, 3, 5, and 10 years was 100%. In the McGoon group, freedom from re-operation rates at the 1-, 3-, and 7-year follow-up were 100, 88.9, and 44.4%, respectively (p = 0.08). Conclusion: Our results with both surgical techniques suggest that supravalvular aortic stenosis can be treated with good results. The Doty method provided better relief for the supravalvular aortic segment, considering the residual stenosis and the re-operation rates.

Pulmonary Stenosis is a Predictor of Unfavorable Outcome After Surgery for Supravalvular Aortic Stenosis

2012 ◽  
Vol 33 (7) ◽  
pp. 1131-1137 ◽  
Author(s):  
Jelena Kasnar-Samprec ◽  
Jürgen Hörer ◽  
Hanna Bierwirth ◽  
Zsolt Prodan ◽  
Julie Cleuziou ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Pulmonary Stenosis ◽  
Unfavorable Outcome ◽  
Supravalvular Aortic Stenosis

scholarly journals Williams-Beuren syndrome: Report of two cases with molecular diagnosis

2011 ◽  
pp. 523-528
Author(s):  
Carolina Vargas ◽  
Wilmar Saldarriaga ◽  
Harry Mauricio Pachajoa ◽  
Carolina Isaza
Keyword(s):  
Mental Retardation ◽  
In Situ Hybridization ◽  
Aortic Stenosis ◽  
Candidate Genes ◽  
Molecular Diagnosis ◽  
Fluorescent In Situ Hybridization ◽  
Chromosome 7 ◽  
Supravalvular Aortic Stenosis ◽  
Syndrome Report

Williams-Beuren syndrome has an estimated incidence of one case in every 10,000 births. It is secondary to microdeletion of a fragment in the long arm of chromosome 7, which contains several candidate genes for the characteristic phenotype of typical facies, supravalvular aortic stenosis, and variable mental retardation with a friendly personality. This article focuses on the report of two cases, with classic but varied phenotypic findings, of this syndrome for which molecular diagnosis with fluorescent in situ hybridization was available. Additionally, we suggest a protocol for complementary studies needed to characterize each patient.

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