scholarly journals Análise genética da estenose aórtica supravalvular na síndrome de Williams-Beuren e sua intervenção cirúrgica / Genetic analysis of supravalvular aortic stenosis in Williams-Beuren syndrome and its surgical intervention

2021 ◽  
Vol 4 (5) ◽  
pp. 19357-19359
Author(s):  
Júlia Dourado Silva Dos Santos ◽  
Cecília Mendonça Miranda ◽  
Natalia Rincon Arruda Daguer Damasceno ◽  
Paloma Gonçalves Pimenta da Veiga Neves ◽  
Rebecca Maria Esteves Barbosa Siqueira ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Genetic Analysis ◽  
Surgical Intervention ◽  
Supravalvular Aortic Stenosis

scholarly journals Modeling Supravalvular Aortic Stenosis Syndrome With Human Induced Pluripotent Stem Cells

Circulation ◽  
2012 ◽  
Vol 126 (14) ◽  
pp. 1695-1704 ◽  
Author(s):  
Xin Ge ◽  
Yongming Ren ◽  
Oscar Bartulos ◽  
Min Young Lee ◽  
Zhichao Yue ◽  
...  
Keyword(s):  
Stem Cells ◽  
Aortic Stenosis ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Supravalvular Aortic Stenosis ◽  
Induced Pluripotent

Familial Supravalvular Aortic Stenosis

CHEST Journal ◽  
1976 ◽  
Vol 70 (4) ◽  
pp. 494-500 ◽  
Author(s):  
Lewis W. Johnson ◽  
Ronald A. Fishman ◽  
Bernard Schneider ◽  
Frederick B. Parker ◽  
George Husson ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
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.

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.

scholarly journals A model based on clinical parameters to identify myocardial late gadolinium enhancement by magnetic resonance in patients with aortic stenosis: An observational study

2020 ◽  
Vol 9 ◽  
pp. 204800402092240
Author(s):  
Mariya Kuk ◽  
Simon Newsome ◽  
Francisco Alpendurada ◽  
Marc Dweck ◽  
Dudley J Pennell ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Aortic Stenosis ◽  
Risk Stratification ◽  
Myocardial Fibrosis ◽  
Surgical Intervention ◽  
Severe Aortic Stenosis ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Study Patient ◽  
Ventricular Ejection Fraction

Objective With increasing age, the prevalence of aortic stenosis grows exponentially, increasing left heart pressures and potentially leading to myocardial hypertrophy, myocardial fibrosis and adverse outcomes. To identify patients who are at greatest risk, an outpatient model for risk stratification would be of value to better direct patient imaging, frequency of monitoring and expeditious management of aortic stenosis with possible earlier surgical intervention. In this study, a relatively simple model is proposed to identify myocardial fibrosis in patients with a diagnosis of moderate or severe aortic stenosis. Design Patients with moderate to severe aortic stenosis were enrolled into the study; patient characteristics, blood work, medications as well as transthoracic echocardiography and cardiovascular magnetic resonance were used to determine potential identifiers of myocardial fibrosis. Setting The Royal Brompton Hospital, London, UK Participants One hundred and thirteen patients in derivation cohort and 26 patients in validation cohort. Main outcome measures Identification of myocardial fibrosis. Results Three blood biomarkers (serum platelets, serum urea, N-terminal pro-B-type natriuretic peptide) and left ventricular ejection fraction were shown to be capable of identifying myocardial fibrosis. The model was validated in a separate cohort of 26 patients. Conclusions Although further external validation of the model is necessary prior to its use in clinical practice, the proposed clinical model may direct patient care with respect to earlier magnetic resonance imagining, frequency of monitoring and may help in risk stratification for surgical intervention for myocardial fibrosis in patients with aortic stenosis.

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