Surgical Repair of Supravalvular Aortic Stenosis in Children With Williams Syndrome: A 30-Year Experience

doi:10.1016/j.athoracsur.2014.11.044

The Annals of Thoracic Surgery

Volume 99, Issue 4, April 2015, Pages 1335-1341

https://doi.org/10.1016/j.athoracsur.2014.11.044 Get rights and content

Background

Williams syndrome is an uncommon genetic disorder associated with supravalvular aortic stenosis (SVAS) in childhood. We reviewed outcomes of children with Williams syndrome who underwent repair of SVAS during a 30-year period at a single institution.

Methods

Between 1982 and 2012, 28 patients with Williams syndrome were operated on for SVAS. Mean age at operation was 5.2 years (range, 3 months to 13 years), and mean weight at operation was 18.6 kg (range, 4.1 to 72.4 kg). Associated cardiac lesions in 11 patients (39.3%) were repaired at the time of the SVAS repair. The most common associated cardiac lesion was main pulmonary artery stenosis (8 of 28 [28%]).

Results

A 3-patch repair was performed in 10 patients, a Doty repair in 17, and a McGoon repair in 1 (3.6%). There were no early deaths. Follow-up was 96% complete (27 of 28). Overall mean follow-up was 11.2 years (range, 1 month to 27.3 years). Mean follow-up was 5 years (range, 1 month to 14.3 years) for the 3-patch repair patients and 14.7 years (range, 6 weeks to 27 years) for the Doty repair patients. Of the 17 Doty patients, there were 4 (24%) late deaths, occurring at 6 weeks, 3.5 years, 4 years, and 16 years after the initial operation. There were no late deaths in the 3-patch repair patients. Overall survival was 86% at 5, 10, and 15 years after repair. Survival was 82% at 5, 10 and 15 years for the Doty repair patients. Overall, 6 of 27 patients (22%) patients required late reoperation at a mean of 11.2 years (range, 3.6 to 23 years). No 3-patch repair patients required reoperation. Overall freedom from reoperation was 91% at 5 years and 73% at 10 and 15 years. Freedom from reoperation for the Doty repair patients was 93% at 5 years and 71% at 10 and 15 years.

Conclusions

Surgical repair of SVAS in children Williams syndrome has excellent early results. However, significant late mortality and morbidity warrants close follow-up.

Section snippets

Material and Methods

This retrospective study was approved by the Royal Children’s Hospital Human Research Ethics Committee.

Early Deaths

There were no early deaths. Table 4 summarizes the intraoperative data. There was 1 (4%) early reoperation. This patient underwent a McGoon repair with mitral valve repair for a prolapsed anterior leaflet at age 6 months and underwent a redo mitral valve repair 16 days later.

Late Outcomes

Follow-up was 96% complete (27 of 28). Overall mean follow-up was 11.2 years (range, 1 month to 27.3 years). Mean follow-up was 5 years (range, 1 month to 14.3 years) for the 3-patch repair patients, 14.7 years (range, 6

Comment

SVAS is a rare lesion with few data on outcomes after repair, especially in patients with Williams syndrome. Our results show excellent early outcomes in 28 children with Williams syndrome who underwent surgical repair of SVAS. Favorable early results have previously been demonstrated after SVAS surgical repair for Doty and 3-patch repairs. Bakhtiary and colleagues [14] retrospectively reviewed a cohort of 21 children who had a Doty repair, with Williams syndrome present in 14 of these

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Cited by (34)

Long-term Outcomes After Surgical Intervention for Congenital Supravalvar Aortic Stenosis in Children
2024, Annals of Thoracic Surgery
Primary supravalvar aortic stenosis (SVAS) is a rare congenital cardiovascular condition that can coexist with Williams-Beuren syndrome, coronary artery involvement, aortic coarctation, and pulmonary artery stenosis. SVAS repair can be achieved with low perioperative mortality, but long-term survival remains less well understood. We used the Pediatric Cardiac Care Consortium, a multicenter United States-based registry for pediatric cardiac operations, to assess long-term outcomes after SVAS repair.
We used Kaplan-Meier plots and Cox proportional hazards regression to examine factors associated with postdischarge deaths. These included sex, age-group, weight z-score, coexisting conditions (Williams-Beuren syndrome, coronary artery involvement, coarctation, and pulmonary artery stenosis), surgical techniques, and era, defined as early (1982-1995) or late (1996-2003). Survival was assessed by matching with the National Death Index through 2021.
Of 333 patients who met inclusion criteria, 313 (94.0%) survived to discharge and 188 (60.1%) had identifiers for National Death Index matching. Over a median follow-up of 25.2 years (interquartile range, 21.1-29.4 years), 17 deaths occurred. The 30-year survival after discharge from SVAS repair was 88.7% (95% CI, 82.9%-94.8%). Infantile surgery and non-Williams-Beuren syndrome were associated with decreased 30-year survival. From the various repairs, the 2-sinus technique had better outcomes compared with all other types, except the 3-sinus technique (nonsignificant difference). Adjusted analysis revealed infantile age and type of repair as associated with postdischarge probability of death.
These data demonstrate favorable long-term outcomes after SVAS repair, except for the infantile group that was associated with more diffuse arteriopathy. As techniques continue to evolve, future studies are warranted to investigate their long-term outcomes.
Thirty-Year Survival After Cardiac Surgery in Children With Williams–Beuren Syndrome (from the Pediatric Cardiac Care Consortium Study)
2023, American Journal of Cardiology
Citation Excerpt :
After that time point, both groups remained stable, and their 30-year survival rate reached 83.4% and 96.1%, respectively. Our findings extend the experience from previously published studies that were mostly limited to 10 to 15 years of follow-up.15,16 A more recent study reported good outcomes in patients with WBS specifically after SVAS repair, with a 94.3% survival rate at 5 and 10 years but with a mean follow-up of only 9 years.17
Williams–Beuren syndrome (WBS) is a genetic condition frequently requiring interventions for associated congenital heart disease (CHD). Long-term survival data after cardiac interventions for children with WBS are sparse. This is a retrospective cohort study aiming to describe the 30-year survival outcomes of children with WBS after interventions for CHD using the Pediatric Cardiac Care Consortium (PCCC), a large North American-based registry of interventions for pediatric heart diseases, between 1982 and 2009. Outcomes were obtained from the PCCC and by linkage with the National Death Index through 2020. Survival of patients with WBS and their major subgroups was assessed by Kaplan-Meier survival curves and Cox regression. A total of 200 patients met the inclusion criteria of having their first intervention for CHD at a US PCCC center and age <21 years at time of intervention. The most common lesions were left heart obstructive lesions (LHOL), either in isolation (37%) or in combination with right heart obstructive lesions (RHOL) (49.0%), whereas isolated RHOL accounted for 11% of the total. The first procedure was surgery for 85.5% of the group, and the remainder underwent a transcatheter procedure. There were 5 in-hospital deaths (2.5%), and among survivors to hospital discharge, 164 had sufficient identifiers for National Death Index linkage. Over a median period of postdischarge follow-up of 23.7 years (interquartile range 18.7 to 27.3), 16 deaths occurred, with an overall 30-year survival rate of 90%. Survival rates ranged from 96.1% for isolated LHOL or RHOL to 83.4% for patients with combined disease (adjusted hazard ratio 4.7, 95% confidence intervals 1.35 to 16.59).
Canadian Cardiovascular Society 2022 Guidelines for Cardiovascular Interventions in Adults With Congenital Heart Disease
2022, Canadian Journal of Cardiology
Citation Excerpt :
A 1-patch technique (the McGoon elliptical patch or the Doty pantaloons-shaped technique) or a 3-patch technique (Brom technique) can be used. The choice depends on the underlying anatomy.127-129 Percutaneous catheter-based interventions are not appropriate for the treatment of SupraAS.
Interventions in adults with congenital heart disease (ACHD) focus on surgical and percutaneous interventions in light of rapidly evolving ACHD clinical practice. To bring rigour to our process and amplify the cumulative nature of evidence ACHD care we used the ADAPTE process; we systematically adjudicated, updated, and adapted existing guidelines by Canadian, American, and European cardiac societies from 2010 to 2020. We applied this to interventions related to right and left ventricular outflow obstruction, tetralogy of Fallot, coarctation, aortopathy associated with bicuspid aortic valve, atrioventricular canal defects, Ebstein anomaly, complete and congenitally corrected transposition, and patients with the Fontan operation. In addition to tables indexed to evidence, clinical flow diagrams are included for each lesion to facilitate a practical approach to clinical decision-making. Excluded are recommendations for pacemakers, defibrillators, and arrhythmia-directed interventions covered in separate designated documents. Similarly, where overlap occurs with other guidelines for valvular interventions, reference is made to parallel publications. There is a paucity of high-level quality of evidence in the form of randomized clinical trials to support guidelines in ACHD. We accounted for this in the wording of the strength of recommendations put forth by our national and international experts. As data grow on long-term follow-up, we expect that the evidence driving clinical practice will become increasingly granular. These recommendations are meant to be used to guide dialogue between clinicians, interventional cardiologists, surgeons, and patients making complex decisions relative to ACHD interventions.
Les interventions chez les adultes atteints de cardiopathie congénitale (AACC) sont axées sur des interventions chirurgicales et percutanées, tenant compte de l'évolution rapide de la pratique clinique dans ce domaine. Afin d'apporter une certaine rigueur à notre démarche et d'amplifier la propension cumulative des données probantes concernant les AACC, nous avons utilisé le processus ADAPTE; nous avons systématiquement évalué, mis à jour et adapté les lignes directrices existantes des sociétés de cardiologie canadiennes, américaines et européennes de 2010 à 2020. Nous avons appliqué cette méthode aux interventions liées à l'obstruction du débit ventriculaire droit et gauche, à la tétralogie de Fallot, à la coarctation, à l'aortopathie associée à une dysfonction de la valve aortique bicuspide, aux anomalies du canal auriculo-ventriculaire, à l'anomalie d'Ebstein, à la transposition congénitale complète corrigée, et aux patients ayant subi une intervention de Fontan. En plus des tables indexées aux évidences, des diagrammes de flux cliniques sont inclus pour chaque affection afin de faciliter une approche pratique de la prise de décision clinique. En sont exclues : les recommandations concernant les stimulateurs cardiaques, les défibrillateurs et les interventions dirigées envers les arythmies, qui font l'objet de documents distincts. De la même façon, en cas de chevauchement avec d'autres directives sur les interventions valvulaires, il est fait référence à des publications parallèles. Il y a une pénurie d’évidences de haute qualité sous forme d'essais cliniques randomisés pour appuyer les lignes directrices concernant les AACC. Nous en avons tenu compte dans la formulation de l’amplitude des recommandations formulées par nos experts nationaux et internationaux. Au fur et à mesure que les données sur le suivi à long terme s'accumulent, nous nous attendons à ce que les preuves à la base de la pratique clinique deviennent de plus en plus granulaires. Ces recommandations sont destinées à guider la discussion entre les cliniciens, les cardiologues interventionnels, les chirurgiens et les patients qui doivent prendre des décisions complexes concernant les interventions chez les AACC.
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Original articleCongenital heart surgerySurgical Repair of Supravalvular Aortic Stenosis in Children With Williams Syndrome: A 30-Year Experience

Background

Methods

Results

Conclusions

Section snippets

Material and Methods

Early Deaths

Late Outcomes

Comment

Am J Cardiol

J Thorac Cardiovasc Surg

J Thorac Cardiovasc Surg

Ann Thorac Surg

Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu

Ann Thorac Surg

Ann Thorac Surg

Original article
Congenital heart surgery
Surgical Repair of Supravalvular Aortic Stenosis in Children With Williams Syndrome: A 30-Year Experience