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Background: 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., Methods: 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., Results: 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., Conclusions: 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., (Copyright © 2024 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams-Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams-Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have no appreciable SVAS. The remaining individuals have SVAS of intermediate severity. Little is known about genetic modifiers that contribute to this variability., Methods and Results: We performed genome sequencing on 473 individuals with Williams-Beuren syndrome and developed strategies for modifier discovery in this rare disease population. Approaches include extreme phenotyping and nonsynonymous variant prioritization, followed by gene set enrichment and pathway-level association tests. We next used GTEx v8 and proteomic data sets to verify expression of candidate modifiers in relevant tissues. Finally, we evaluated overlap between the genes/pathways identified here and those ascertained through larger aortic disease/trait genome-wide association studies. We show that SVAS severity in Williams-Beuren syndrome is associated with increased frequency of common and rarer variants in matrisome and immune pathways. Two implicated matrisome genes ( ACAN and LTBP4 ) were uniquely expressed in the aorta. Many genes in the identified pathways were previously reported in genome-wide association studies for aneurysm, bicuspid aortic valve, or aortic size., Conclusions: Smaller sample sizes in rare disease studies necessitate new approaches to detect modifiers. Our strategies identified variation in matrisome and immune pathways that are associated with SVAS severity. These findings suggest that, like other aortopathies, SVAS may be influenced by the balance of synthesis and degradation of matrisome proteins. Leveraging multiomic data and results from larger aorta-focused genome-wide association studies may accelerate modifier discovery for rare aortopathies like SVAS.

Objectives: Congenital supravalvular aortic stenosis (SVAS) is a rare form of congenital outflow tract obstruction and long-term outcomes are scarcely reported. This study aims to provide an overview of outcomes after surgical repair for congenital SVAS., Methods: A systematic review of published literature was conducted, including observational studies reporting long-term clinical outcome (>2 years) after SVAS repair in children or adults considering >20 patients. Early risks, late event rates and time-to-event data were pooled and entered into a microsimulation model to estimate 30-year outcomes. Life expectancy was compared to the age-, sex- and origin-matched general population., Results: Twenty-three publications were included, encompassing a total of 1472 patients (13 125 patient-years; pooled mean follow-up: 9.0 (6.2) years; median follow-up: 6.3 years). Pooled mean age at surgical repair was 4.7 (5.8) years and the most commonly used surgical technique was the single-patch repair (43.6%). Pooled early mortality was 4.2% (95% confidence interval: 3.2-5.5%) and late mortality was 0.61% (95% CI: 0.45-0.83) per patient-year. Based on microsimulation, over a 30-year time horizon, it was estimated that an average patient with SVAS repair (mean age: 4.7 years) had an observed life expectancy that was 90.7% (95% credible interval: 90.0-91.6%) of expected life expectancy in the matched general population. The microsimulation-based 30-year risk of myocardial infarction was 8.1% (95% credible interval: 7.3-9.9%) and reintervention 31.3% (95% credible interval: 29.6-33.4%), of which 27.2% (95% credible interval: 25.8-29.1) due to repair dysfunction., Conclusions: After surgical repair for SVAS, 30-year survival is lower than the matched-general-population survival and the lifetime risk of reintervention is considerable. Therefore, lifelong monitoring of the cardiovascular system and in particular residual stenosis and coronary obstruction is recommended., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery.)

This study investigated long-term outcomes and factors associated with reoperations in patients who underwent surgical repair of congenital supravalvar aortic stenosis (SVAS). A total of 39 consecutive patients who underwent congenital SVAS repair from 1999 through 2018 were included. Aortic root geometry was evaluated by measuring the ratio of the sinotubular junction diameter to the aortic annulus diameter (STJ/AVA) on echocardiography and proportion of intercommissural distance (ICD) of each sinus on computed tomography. The median age and weight at the time of operation were 4.3 years and 16.9 kg, respectively. Williams syndrome was associated in 25 patients (64.1%). Modified simple sliding aortoplasty (MSSA) was mostly used (n = 35, 89.7%). The median follow-up duration was 9.5 years. There were no early deaths and 1 late death. Overall survival rate was 97.0% at 15 years. There were 7 reoperations during follow-up. Freedom from reoperation for left ventricular outflow tract obstruction and all-cause reoperation were 91.9% and 80.4%, respectively. Age younger than 2 years at initial repair were associated with all-cause reoperation in the univariable analysis. In 35 patients who underwent MSSA, the degree of aortic regurgitation was equal to or less than mild in all patients during follow-up. Their median STJ/AVA on postoperative echocardiography was 0.95 (0.84-1.02). SVAS repair with MSSA provided excellent long-term survival with well-preserved aortic valve competence. Age younger than 2 years at initial repair might be associated with reoperation., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Williams syndrome, and various elastin protein mediated arteriopathies, presents a clinical challenge to pediatric cardiovascular specialists. In the severest phenotypes, multilevel obstruction to the systemic and pulmonic arterial systems result in biventricular dysfunction which can be imminently life-threatening. As a longstanding, quaternary referral center for complex pulmonary arteriopathies and pediatric connective tissue disease, Stanford Medicine Children's Health has developed a sizeable experience managing these patients. This manuscript is a summary of our current strategies, with a focus on our surgical techniques, peri-procedural considerations on timing and staging of various interventions, and long-term results., (Copyright © 2022 Elsevier Inc. All rights reserved.)

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.

Background: Supravalvar aortic stenosis (SVAS) may be an isolated defect of the proximal ascending aorta. However, more severe cases have extension of the arteriopathy into the transverse and proximal descending aorta. The purpose of this study was to review our experience with SVAS with and without aortic arch arteriopathy., Methods: This was a retrospective review of 58 patients who underwent surgical repair of SVAS. The median age at repair was 18 months. A total of 37 patients had Williams syndrome. A total of 31 (53%) patients had associated peripheral pulmonary artery stenosis and 23 (39%) had coronary artery ostial stenosis (CAOS)., Results: A total of 37 of 58 (64%) patients had surgical repair of SVAS without the need for arch intervention while 21 (36%) patients had repair of the distal aortic arch. There were 3 (5.2%) operative deaths, 2 of whom had aortic arch involvement and one without arch involvement. There were 2 deaths after discharge from the hospital. Patients who needed arch surgery were more likely to have severe arch gradients compared to those without arch involvement (71% vs 30%, P < .05), were more likely to undergo concomitant procedures for peripheral pulmonary artery stenosis or CAOS (90% vs 62%, P < .05), and to have Williams syndrome (86% vs 51%, P < .05)., Conclusions: More than one-third of patients who had SVAS repair at our institution had procedures directed at the transverse or proximal descending aorta. Patients with arch involvement had more severe arch obstruction, required more concomitant procedures, and were more likely to have Williams syndrome.

We compared differences in the hemodynamic parameters of multiple surgical techniques for supravalvular aortic stenosis (SVAS). A three-dimensional model was reconstructed based on a patient's CT scan. Virtual McGoon, Doty, and Brom repairs were completed using computer-aided design (CAD). Hemodynamic parameters were calculated through computational fluid dynamics (CFD). The velocity profile and wall shear stress (WSS) showed the blood flow pattern. Energy loss (EL) and energy efficiency (EE) were calculated to estimate the cardiac workload. The perioperative blood flow ratio (BFR) of brachiocephalic vessels and coronary arteries was calculated. The preoperative flow velocity was abnormally high (> 5.0 m/s). High WSS was detected at the sinotubular junction (STJ), and its preoperative distribution in the aorta was uneven. High-speed flow disappeared after each of the three operations. The WSS distribution at the aortic root was consistent with the postoperative STJ structure of each operation. EL in the systolic phase decreased postoperatively (Original: 634 mW, McGoon: 218 mW, Doty: 278 mW, Brom: 255 mW). No significant difference in brachiocephalic BFR was detected among the different techniques. A slightly increased coronary BFR (Original: 7.56%, McGoon: 7.99%, Doty: 8.55%, Brom: 8.89%) was detected. McGoon, Doty, and Brom repair each effectively restored stable blood flow and greatly improved EE. The best WSS distribution and coronary blood supply were achieved after Brom repair due to its ability to reconstruct the symmetrical aortic root structure. CFD combined with a virtual operation is a promising method in surgical planning and optimization for SVAS., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

This study reviewed the midterm outcomes of supravalvular aortic stenosis (SVAS) repair and determined the risk factors associated with postoperative aortic or pulmonary stenosis. We retrospectively reviewed 225 patients who underwent surgical correction of SVAS from 2010 to 2019. A total of 178 (79.1%), 44 (19.6%) and 3 (1.3%) patients underwent McGoon, Doty, and Brom repair, respectively. The median age at surgery was 2.2 years (interquartile range, 1.2-4.4). The median follow-up time was 3.7 years (interquartile range, 1.9-5.7). Early and late mortality rates were 3.1% and 1.4%, respectively. The overall 5-year survival rate was 97.9%. Eleven patients received reintervention, including 6 (2.8%) reoperations and 5 (2.3%) balloon dilatations. Higher preoperative pressure gradient at the distal ascending aorta or aortic arch was a risk factor for reintervention (P = 0.04). Rates of mortality and complications were not related to the surgical technique. Eleven patients (5.2%) developed sinotubular junction (STJ) stenosis. Freedom from postoperative distal artery stenosis (DAS) of type II SVAS was significantly lower than that of type I (P < 0.01). Higher preoperative pressure gradient at the STJ (P < 0.01) and concomitant bilateral or peripheral pulmonary artery (PA) stenosis (P < 0.01) were risk factors for postoperative DAS. Postoperative PA stenosis occurred more frequently in patients who received bilateral pulmonary arterioplasty (P < 0.01). Postoperative prognosis of the aortic root after SVAS repair was satisfactory. DAS and PA stenosis were common. The results of bilateral pulmonary arterioplasty were unsatisfactory. The surgical timing and technique for PA stenosis should be carefully considered., (Copyright © 2021 Elsevier Inc. All rights reserved.)

There are a number of techniques used in the surgical treatment of supravalvular aortic stenosis with excellent results; however, junior surgeons' experience may be limited due to its rare nature. Simulation with 3D-printed models provides a safe platform for surgeons to rehearse surgical techniques prior to patient application but must replicate all features of surgical anatomy. Here, we describe how software manipulation can be used to accurately reproduce the surgical anatomy in supravalvular aortic stenosis and be used to train surgeons in 2 different techniques., (© The Author(s) 2021. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Background: Multiple techniques exist for the repair of supravalvular aortic stenosis (SVAS), but given the lesion's rarity, analyses comparing the efficacy of each repair have been limited., Methods: A retrospective review of all children at a single institution who underwent repair of SVAS from June 1995 to May 2019 was performed. Anatomic and physiologic measurements across time points were compared between 2 predominant surgical techniques. Time-to-event outcomes were compared using the log-rank test., Results: SVAS was repaired in 89 patients, by using a single-patch in 31 (35%) and the Doty repair in 58 (65%). Median age at operation was 2.5 years (interquartile range [IQR], 1.0 to 6.8 years), with median follow-up of 5.8 years (IQR, 1.8 to 10.7 years). Reoperation was required in 8 (9%) patients at a median of 1.5 years postoperatively (IQR, 0.3 to 4.8 years). There was 1 death after multiple reinterventions. The change from the preoperative to the postoperative sinotubular junction z-score was greater for patients after Doty repair (median change +2.5; IQR, 1.5, 4.1) than for patients after single-patch repair (median change +0.8; IQR, -0.1, 2.1; P = .001). Freedom from reoperation was longer for patients after Doty repair than after the single-patch technique (P = .008)., Conclusions: The Doty repair provides longer freedom from reoperation after supravalvular aortic stenosis repair compared with a single-patch technique, likely through a greater increase in the sinotubular junction at the time of initial operation., (Copyright © 2021 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

We present a case of a 42-year-old male patient with severe supravalvular aortic stenosis associated with aortic and mitral valve stenosis as well as an anomalous origin of the right coronary ostium caused by deletion in the q11.23 region of the human chromosome 7 in a patient with Williams-Beuren syndrome., (© The Author(s) 2019. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Background: Supravalvular aortic stenosis (SVAS) represents a heterogeneous group, including Williams syndrome, familial elastin arteriopathy, sporadic cases, and others. This study sought to evaluate long-term outcomes of SVAS repair., Methods: A total of 87 patients underwent surgical repair of congenital SVAS at Boston Children's Hospital in Boston, Massachusetts, between 1997 and 2017. A total of 41 patients had Williams syndrome, and 46 did not. Of the 46 patients who did not have Williams syndrome, 23 had sporadic SVAS, and 13 had familial elastin arteriopathy. Demographic data and outcomes were reviewed and analyzed from medical records., Results: The median age at operation was 2.9 years. Mean z score of the sinotubular junction was -3.29 ± 1.42 and of the aortic root was -0.09 ± 1.19. A total of 26% (n = 22) patients had coronary ostium stenosis, and 41% (n = 9) of them required patch plasty. Survival rates at 5, 10, and 20 years were all 94.3%. Freedom from left ventricular outflow tract reoperation at 5, 10, and 20 years was 78.5%, 70.3%, and 70.3%, respectively. Freedom from aortic arch reintervention at 5, 10, and 20 years was 98.6%, 94.3%, 89.3%, respectively. In risk factors analysis, age younger than 1 year, z scores of the aortic valve and aortic root, and concomitant right ventricular outflow tract surgical repair were predictive of the need for reoperation and reintervention for left or right ventricular outflow tract obstruction., Conclusions: Excellent long-term survival rates can be achieved with surgical repair of SVAS. Age younger than 1 year, small aortic valve and aortic root z scores, and concomitant right ventricular outflow tract surgical repair were predictors of reoperation and reintervention., (Copyright © 2019 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

A 7-year-old Miniature Schnauzer presented with exercise intolerance and easy fatigability. Echocardiography revealed the presence of supravalvular pulmonary stenosis. The peak velocity through the stenosis was 6.4 m/sec, and the interventricular septum was flattened. Cutting balloon angioplasty was designed for the treatment of coronary artery stenosis, which was resistant to conventional balloon angioplasty. Accordingly, the dog underwent cutting balloon angioplasty and conventional balloon dilation. One month after treatment, it showed neither exercise intolerance nor easy fatigability. The ventricular septum flattening disappeared. Five months later, the dog showed an increase in activity. Two years later, the peak velocity through the stenosis decreased to 4.4 m/sec. Neither clinical symptoms nor restenosis was observed. Thus, supravalvular pulmonary stenosis was successfully treated using this combination method. The present case showed that combined cutting balloon and conventional balloon angioplasty is a useful and minimally invasive treatment for supravalvular pulmonary stenosis.

Objective: The aim of this study was to evaluate the efficacy and safety of the Doty surgical approach in pediatric patients with congenital supravalvular aortic stenosis (SVAS) by examining early and mid-term outcomes., Methods: Surgical repair using the Doty technique was performed in a total of 10 pediatric patients with SVAS between January 2005 and July 2015 at this clinic. These patients were evaluated retrospectively. Demographic characteristics, echocardiographic findings, and clinical outcomes were analyzed., Results: The mean patient age was 4.8±3.9 years. Williams-Beuren syndrome was diagnosed in 4 of the patients. Early mortality was observed in 1 patient with diffuse SVAS. At the final follow-up (mean follow-up: 3.7±1.2 years; range: 6-61 months), echocardiograms revealed a mean pressure gradient of 14±4.2 mmHg. Two patients displayed minimal aortic insufficiency during the follow-up period. No reoperation or reintervention was required., Conclusion: The Doty technique is an anatomically and technically effective surgical approach to treating SVAS.

A 78-year-old man with remote type-A dissection presented with acute-onset dyspnea. Twenty-two years prior, treatment for his aortic disease required replacement of ascending and arch aneurysms with a polyester graft (Dacron) using the graft inclusion technique. He presented currently in cardiogenic shock. Echocardiography demonstrated new severe hypokinesis of all apical segments. Left-heart catheterization revealed a 120 mm Hg intragraft gradient. Computed tomography arteriography was unrevealing, but intraaortic ultrasound demonstrated critical intragraft stenosis. A balloon expandable stent (Palmaz stent, Cordis, Milpitas, CA) was deployed in the stenotic region with gradient resolution. The patient later underwent aortic root replacement and ascending aneurysm repair (Bio-Bentall technique) and is doing well at 24 months., (Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Williams-Beuren syndrome is the clinical manifestation of a congenital genetic disorder in the elastin gene, among others. There is a history of cardiac arrest refractory to resuscitation manoeuvres in anaesthesia. The incidence of myocardial ischaemia is high during anaesthetic induction, but there are patients who do not have this condition yet also have had very serious cardiac events, and issues that are still to be resolved. Case descriptions will enable the common pathophysiological factors to be defined, and decrease morbidity and mortality. We report the case of a 3-year-old boy with cardiac arrest at induction, rescued with circulatory assistance with extracorporeal membrane oxygenation and hypothermia induced for cerebral protection., (Copyright © 2017 Sociedad Española de Anestesiología, Reanimación y Terapéutica del Dolor. Publicado por Elsevier España, S.L.U. All rights reserved.)

Homozygous familial hypercholesterolemia is a rare autosomal dominant disorder caused by gene mutations of the low-density lipoprotein receptor, generally characterized by three major signs-hyper low-density lipoprotein cholesterolemia, tendon/skin xanthomas, and premature atherosclerosis disease-beginning in childhood and including supravalvular aortic stenosis. To the best of our knowledge, only a few successful surgical cases for supravalvular aortic stenosis in these patients have been reported. We report two cases of homozygous familial hypercholesterolemia with severe supravalvular aortic stenosis and coronary artery disease associated with very small aortic root, managed by aortic root replacement concomitant with coronary artery bypass graft surgery, which resulted in excellent postoperative outcomes., (Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Objectives: Supravalvar aortic stenosis (SVAS) is a rare congenital anomaly. The "single-patch technique," "'two sinus augmentation with an inverted Y-patch" (both nonsymmetrical corrections), "three-patch technique," and the "slide aortoplasty" (both symmetrical corrections) are the techniques implemented by the majority of surgeons for the correction of SVAS. In the few studies that compared these techniques, no technique was shown to be superior over another. The aim of the present study is to review the 52-year experience with the surgical correction of SVAS in two of four congenital cardiothoracic surgical centers in the Netherlands., Methods: We retrospectively reviewed all patient files of those who underwent an operation to correct their SVAS, between 1962 and 2014 in our centers. Patients were divided according to their operating technique. These groups were compared using the end points freedom from reoperation and mortality., Results: A total of 49 patients were included, 23 (46.9%) patients in the nonsymmetrical group and 26 (53.1%) patients in the symmetrical group. Survival after 20 years in the nonsymmetrical group was 80% (standard error [SE]: 0.091) and in the symmetrical group was 85% (SE: 0.085; P = .163). Freedom from reoperation after 20 years in the nonsymmetrical group was 88% (SE: 0.079) and in the symmetrical group was 71% (SE: 0.107; P = 0.313)., Conclusion: In this patient group, there is no significant difference in survival and freedom from reoperation between the different surgical techniques for SVAS repair. Compared to the survival in the general population, the survival of SVAS patients is remarkably low. Apparently, SVAS is not a benign disease and probably patients should be followed more closely for the rest of their lives.

Background: Controversy remains regarding the optimal surgical approach for children with supravalvular aortic stenosis (SVAS)., Methods: Since 1997 we have used Brom three-patch aortoplasty for patients with SVAS. We prefer computed tomography (CT) imaging for preoperative evaluation rather than cardiac catheterization as it avoids the well-known morbidity of general anesthesia. The purpose of this study was to present our intermediate-term results of this strategy., Results: Twenty consecutive patients with SVAS were treated with Brom aortoplasty. Mean age was 3.7 ± 5.9 years (median, 1.5 years). Twelve patients had Williams syndrome. Ten patients had preoperative advanced medical imaging (seven CT, three magnetic resonance imaging) and did not have cardiac catheterization. Mean times for cardiopulmonary bypass and cross-clamp were 172 ± 29 minutes and 110 ± 21 minutes, respectively. Ten patients had simultaneous pulmonary artery stenosis patching. Median length of stay was seven days. There was no operative or late mortality. Mean follow-up was 6 ± 5 years. There were no reoperations on the aortic root. Fifteen patients had mild or less aortic insufficiency (AI) and two had moderate AI. One patient who had infant balloon dilation of the aortic valve and postoperative subacute bacterial endocarditis had moderate-to-severe AI and aortic stenosis (AS). One patient had moderate residual SVAS; all others had no AS. No patients had late coronary insufficiency., Conclusion: Brom aortoplasty promotes restoration of normal aortic root geometry and relief of coronary ostial stenosis, which is important in preventing myocardial ischemia. Computed tomography imaging is our preferred diagnostic modality. Intermediate-term outcomes are excellent with no recurrent SVAS, coronary events, or reoperations on the aortic valve.

Objectives: Our goal was to evaluate the early and late results of the surgical management of congenital supravalvular aortic stenosis (SVAS)., Methods: We performed a retrospective, multicentre study using data from the European Congenital Heart Surgeons Association. Exclusion criteria were age >18 years, operation before 1990 and redo supravalvular aortic stenosis operations. Multivariate Cox regression analysis was performed to detect independent predictors of adverse events., Results: Of a total of 301 patients (male/female = 194/107; median age 3.9 years, range 13 days-17.9 years), 17.6% had a prior surgical or interventional procedure. Pulmonary artery stenosis was present in 41.5% and coronary anomalies in 13.6%. The operation consisted of a single patch repair in 36.7%, a pantaloon-shaped patch in 36.7%, a 3-patch technique in 14.3% and other techniques in 11.7%. Postoperative complications occurred in 14.9%, and the early mortality rate was 5%. At a median follow-up of 13 years (interquartile range 3.5-7.8; follow-up completed 79.1%), there were 10 late deaths (4.2%). A surgical reoperation or an interventional cardiology procedure occurred in 12.6% and 7.2%, respectively. No significant differences in outcomes between the techniques were found. Age at repair <12 months and pulmonary artery stenosis were associated with an increased risk of early (P = 0.0001) and overall mortality (P = 0.025), respectively. Having an operation after 2005 and co-existing pulmonary artery stenosis were significant predictors of late reintervention (P = 0.0110 and P = 0.001, respectively)., Conclusions: Surgical repair of congenital stenosis is an effective procedure with acceptable surgical risk and good late survival, but late morbidity is not negligible, especially in infants and when associated pulmonary artery stenosis is present., (© The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Isolated supravalvular aortic stenosis in adults is a rare form of left ventricular outflow tract obstruction. We describe a case in a 41-year-old man in whom the supravalvular aorta had narrowed to approximately the size of the left anterior descending coronary artery. The patient underwent aortic surgery with replacement of the ascending aorta and repair of supravalvular aortic stenosis with a pantaloon graft. A postoperative echocardiogram showed substantial improvement: the mean gradient across the aorta had fallen from 48 to 8 mmHg. Surgery is the definitive treatment in symptomatic patients with supravalvular aortic stenosis.

Objectives: The impact of systolic flow displacement on the development and progression of ascending aorta dilatation in aortic valve disease is a matter of controversy. Our objective was to study the association between rheological stimuli and development of aortic dilatation in a large animal model of supravalvular aortic stenosis and eccentric flow., Methods: Twenty-four pigs weighing 10-14 kg were randomly allocated (ratio 2:1) to either restrictive ascending aortic banding or sham operation. Aortic diameter and systolic flow displacement were assessed by three-dimensional phase-contrast magnetic resonance imaging at 6 and 18 weeks after surgery. Twenty pigs (n = 14, banded vs n = 6, sham) completed full imaging protocol and were included in the analysis. After the last follow-up, a subset of 14 animals was sacrificed for histological analysis., Results: All banded animals developed significant progressive aortic dilatation both at 6 and 18 weeks, compared with sham-operated pigs: 34.3 ± 4.8 vs 21.4 ± 2.7 mm at 6 weeks (P < 0.001); and 50.0 ± 8.4 vs 38.0 ± 8.3 mm at 18 weeks (P = 0.002). The peak gradient at 6 weeks showed a trend to positively correlate with aortic diameter at 18 weeks (R = 0.50, P = 0.06), whereas the systolic flow displacement at 6 weeks correlated better with aortic diameter at 18 weeks (R = 0.59, P = 0.02). The aortic wall thickness was significantly decreased in the anterior aortic section in banded, compared with sham-operated, pigs (1.5 ± 0.4 vs 2.0 ± 0.1 mm, respectively; P = 0.03). In addition, banded pigs showed a higher degree of cystic medial necrosis and elastin fibre fragmentation, compared with sham-operated animals., Conclusions: In this preclinical model of supravalvular aortic stenosis and eccentric flow, we found that systolic flow displacement at earlier stages is positively correlated with the degree of aortic dilatation during follow-up as assessed by three-dimensional phase-contrast magnetic resonance imaging. If our findings are confirmed in further studies, this imaging parameter might be useful to identify those subjects with aortic valve disease who are at risk of developing aortic dilatation at a later stage., (© The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Supravalvular aortic stenosis as a late complication of transposition of the great arteries is very rare, and only a few cases have been reported. We describe the case of a 14-year-old girl who developed supravalvular aortic stenosis as a late complication of the arterial switch operation for transposition of the great arteries. The narrowed ascending aorta was replaced with a graft. The right pulmonary artery was transected to approach the ascending aorta which adhered severely to the main pulmonary trunk, and we obtained a good operative field., (© The Author(s) 2015.)

Congenital obstruction of the left main coronary artery is a complicating feature of supravalvular aortic stenosis. We describe an eight-month-old female patient with Williams syndrome, supravalvular aortic stenosis, and branch pulmonary artery stenosis, with concomitant anomaly of severe obstruction of the left coronary artery orifice., (© The Author(s) 2015.)

A 61-year-old male with homozygous familial hypercholesterolemia presented with dyspnea and syncope. He had been treated with low-density lipoprotein apheresis for 26 years. Echocardiography and computed tomography showed severe valvular and supravalvular aortic stenosis. Computed tomography and cardiac catheterization revealed a severely calcified narrowed aortic root and an occlusion in the proximal right coronary artery. During surgery, the ascending aorta was replaced under deep hypothermic circulatory arrest without aortic cross-clamping. After that, the aortic root from the annulus to the sino-tubular junction was enlarged with a two-ply bovine pericardial patch. An aortic valve replacement with a 17 mm mechanical valve and coronary artery bypass grafting to the right coronary artery were performed. The patient recovered from the surgery without any cerebrovascular complications.

Background: Although repair of a supravalvular aortic stenosis (SVAS) can be performed with low mortality rates, surgery for the complex form of SVAS continues to be associated with a high incidence of residual stenosis., Case Presentation: The patient was referred to our hospital at 1 month of age and was diagnosed with aortic valve stenosis (AS) by using echocardiography. Cardiac catheterization revealed moderate AS, and subsequent left ventriculography revealed discrete stenosis of the sino-tubular junction and a narrowed proximal ascending aorta. We performed a reconstructive operation for such heart defects involving novel three-sinus and ascending aorta enlargement without aortic root transection in a 6-month-old boy., Conclusion: Our novel three-sinus enlargement technique is suitable for treating each type of SVAS and is a useful method for a baby particularly less than 10 kg without disturbing the growth of the ascending aorta.

Percutaneous treatment of supravalvular aortic stenosis (SVAS) by means of balloon dilation and stent deployment has been rarely reported in the literature. In this report, we present the case of a patient with mycotic aneurysms, disseminated peripheral and cerebral septic embolizations, and infected vegetations associated with a stent that had previously been deployed to treat restenosis of surgically corrected SVAS in the infancy., (© The Author(s) 2015.)

Although cerebral hyperperfusion syndrome is rarely encountered, this condition can be serious after procedures that increase cerebral blood flow; most reports are related to carotid revascularization. Sharp cerebral hemodynamic changes, along with impaired cerebrovascular autoregulation, are the main mechanisms contributing to this syndrome. We report a patient who underwent surgical correction for congenital supravalvular aortic stenosis and presented with postoperative hypertension, headache, impairment of consciousness, and cerebral edema 2 days after operation. He recovered well when the blood pressure declined and the brain edema subsided. Cerebral hyperperfusion syndrome was considered, and this uncommon neurologic complication of cardiac operations is discussed., (Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

A 1-year-old boy with a bicuspid aortic valve, who had undergone successful repair of coarctation of the aorta by extended end-to-end direct anastomosis at the age of 1 month, was found to have mild supravalvular aortic stenosis involving the left coronary ostium. Because he was so young, we performed a modified Myers' all-autologous 3-sinus reconstruction to allow for potential growth. After transecting the ascending aorta just above the sinotubular junction, the superior wall of the left coronary ostium and the aortic root between both commissures were incised longitudinally, and then each of the incised parts was augmented by creating three flaps of distal aortic wall directly. Postoperatively, myocardial scintigram confirmed resolution of the pressure gradient at the supravalvular stenotic portion and improvement of the perfusion defect in the septal-anterior area.

Williams-Beuren syndrome is characterized by diffuse arteriopathy due to elastin gene deficiency. We present a patient with de novo supravalvular stenosis due to excessive intimal hyperplasia after a previous repair. This case report supports in vitro and animal studies that have linked elastin deficiency to increased cellular proliferation in the vessel wall with the subsequent development of obstructive lesions., (Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

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., (Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Congenital supravalvar aortic stenosis (SVAS) is an arteriopathy associated with Williams-Beuren syndrome (WBS) and other isolated elastin gene deletions. Cardiovascular manifestations associated with WBS are characterized by obstructive arterial lesions such as SVAS and pulmonary artery stenosis in addition to bicuspid aortic valve and mitral valve prolapse. However, coronary artery ostial stenosis may be associated with SVAS, and it increases the risk of sudden death and may complicate surgical management. In this report, we present our experience with two patients having SVAS and left coronary artery ostial stenosis with associated left ventricular dysfunction., (© The Author(s) 2014.)

Three-patch repair of supravalvar aortic stenosis is a widely accepted surgical approach for this congenital heart lesion. We describe an unusual complication of this approach, which resulted in ischemia in the left anterior coronary artery distribution. Subtle oversizing of the left sinus of Valsalva patch led to kinking of the origin of the left anterior descending artery; the circumflex artery was not affected. Sinus of Valsalva reconstruction and reimplantation of the left coronary button restored normal coronary perfusion., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Williams syndrome is caused by a gene deletion of chromosome 7. A majority of the cases are sporadic with typical facial appearance, cardiac anomalies, and mental retardation. We report a rare case of Williams syndrome associated with supravalvular aortic stenosis, subvalvular aortic membrane, mitral regurgitation, aortic coarctation, and patent ductus arteriosus. The patient had undergone a single-stage surgical repair with satisfactory results at 5 months of follow-up.

Background: Several surgical techniques for the treatment of congenital supravalvular aortic stenosis have been developed, yet there is no consensus about the optimal approach. We reviewed our institutional experience with 2- and 3-sinus reconstruction techniques., Methods: Thirty-eight patients operated on for supravalvular aortic stenosis between 1987 and 2012 in our institution were analyzed retrospectively. Eight patients (21%) were infants and in 5 (13.2%) diffuse stenosis was present. Mean peak pressure gradient was 86.1±28.7 mm Hg preoperatively. Surgical procedures included single-patch enlargement (McGoon, n=3), inverted bifurcated-patch aortoplasty (Doty, n=22), 3-sinus patch augmentation (Brom, n=8), and autologous slide aortoplasty (n=5). Major concomitant procedures were performed in 10 patients (26.3%)., Results: Early mortality was 2.6%. Follow-up continued for a median of 7.5 years (range 3 weeks to 22 years). Overall survival estimates were 94% and 90% and overall freedom from reoperation was 83% at 5 and 20 years, respectively. No differences were found between surgical techniques in respect to survival, clinical course, hemodynamic outcome, or freedom from reoperation rates. A significantly worse outcome in regard to survival and reoperation rates was observed in infants., Conclusions: Our study demonstrates equally good results for the repair of supravalvular aortic stenosis with both 2- and 3-sinus reconstruction. No evidence of a superior outcome for 3-sinus reconstruction techniques was found. Operation in infancy is an important factor associated with unfavorable outcome., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)