Supravalvar Pulmonary Stenosis Research Articles

Three-Patch Reconstruction of Hourglass Supravalvar Pulmonary Artery Stenosis Mid-Term Results.

Some patients with pulmonary stenosis present with a complex multilevel disease that involves the valve, the leaflets, and the sinotubular junction (STJ) forming an hourglass appearance. We herein report the mid-term results of our experience with the reconstruction of the supravalvar narrowing using three pericardial patches. Retrospective analysis of patient charts and echocardiography studies of patients who underwent three-patch reconstruction of the pulmonary valve (PV) from 2013 to 2022. After PV transection distal to STJ, vertical incisions into the sinuses were performed, and leaflets were trimmed and thinned. The three sinuses were augmented using three pericardial patches. Nineteen patients underwent repair of hourglass supravalvar pulmonary stenosis. Mean weight at surgery was 9.4 kg (median 7.2, range 4.7-35); 16 patients underwent previous catheterization with unsuccessful balloon dilatation of the PV (13 pts.). Preoperative aortic/pulmonary annulus ratio was 1.02 (median 1, range 0.89-1.25). After surgery, gradients across the PV were significantly reduced (94 ± 26 vs 29 ± 9 mm Hg, P = .02). Postoperatively, 14 patients had mild or no pulmonary insufficiency (PI) and five had mild to moderate PI. At a mean follow-up of 71 months (median 78 months, range 8-137), gradients continued to decrease (29 ± 9 vs 15 ± 5 mm Hg, P < .001). The three-patch technique for the repair of supravalvar pulmonary stenosis is simple, reproducible, and achieves excellent and long-standing relief of the right ventricular outflow tract gradient.

Abstract 15551: Pulmonary Hypertension in Patients With Noonan Syndrome Undergoing Cardiac Catheterization

Introduction: Noonan syndrome (NS) is an autosomal dominant genetic disorder associated with a high incidence of cardiovascular disease. We sought to investigate pulmonary hypertension (PH) in patients with NS, as well as characterize the hemodynamics, cardiovascular interventions, genetics, and transplant-free survival. Methods: A retrospective, descriptive cohort study was conducted among patients with NS who underwent cardiac catheterization at Boston Children’s Hospital between 2000 and 2020. Patient demographic, clinical, and hemodynamic data were collected for cohorts of patients with and without PH. Results: Eight-seven patients with Noonan syndrome underwent cardiac catheterization in the study period. Fifty-nine (68%) patients had a NS-associated pathogenic variant, while 28 (32%) had a clinical diagnosis of NS. Eleven (13%) patients had PH by 6 th World Symposium on Pulmonary Hypertension criteria: two patients with Group 1 Pulmonary Arterial Hypertension (PAH), seven Group 2 PH, and two Group 4 PH. There were significant differences in NS-associated causative gene in patients with and without PH, with RAF1 (p=0.013) and KRAS1 (p=0.015) more common among PH patients. A clinical diagnosis of hypertrophic cardiomyopathy (p=0.009) was more common in PH patients, while valvar, subvalvar, or supravalvar pulmonary stenosis (p=0.011) was less common. PH patients were significantly more likely to have aortic-valve interventions (p=0.025) and less likely to have valvar right-sided heart interventions (p=0.037). Transplant-free survival at five years was lower in the PH group (73%) compared to the non-PH group (99%). Conclusion: In a cohort of patients with Noonan syndrome undergoing cardiac catheterization, we noted differences among those with and without PH for NS-associated causative gene, associated hypertrophic cardiomyopathy or structural heart disease, interventions, and transplant-free survival. The prevalence of PH among this population demonstrates the need for future studies on the association between NS and pulmonary vascular disease.

Noonan Syndrome and Pulmonary Valve Stenosis

Source: Bell JM, Considine EM, McCallen LM, et al. The prevalence of Noonan spectrum disorders in pediatric patients with pulmonary valve stenosis. J Pediatr. 2021;234:134–141.e5; doi:10.1016/j.jpeds.2021.03.050Investigators from the University of Colorado School of Medicine, Denver, CO, and University of Colorado College of Engineering and Applied Science, Boulder, CO, conducted a retrospective study to estimate the prevalence of Noonan spectrum disorders (NSD) in children with pulmonary valve stenosis (PVS), and to identify characteristics that predicted NSD in PVS patients. Study participants were identified using the “Slicer/Dicer” function of the EPIC electronic medical system and included children seen in the Children’s Hospital Colorado Cardiology clinic between 2009 and 2018. The medical records of the identified patients were reviewed, and data on clinical characteristics abstracted. The presence of PVS was confirmed by reviewing echocardiogram reports.Study patients were classified as having NSD based on clinical diagnosis made by a medical geneticist and/or genetic test results. Data on other syndromic conditions present in participants also were recorded. The association of specific other cardiac conditions, including atrial septal defect (ASD), supravalvar pulmonary stenosis (SVPS), ventricular septal defect, hypertrophic cardiomyopathy, and patent ductus arteriosus, with NSD in patients with PVS was assessed by chi square tests. A similar process was used for extracardiac characteristic statistically associated with NSD in children with PVS, including cryptorchidism, lymphedema, hearing loss, pectus deformity, feeding issues, failure to thrive (FTT), developmental delay, short stature, and ocular findings. Bayes rule was used to determine the conditional probability of NSD in patients with one or more of these findings.Data were analyzed on 686 patients with PVS. Of these, a diagnosis of NSD was made in 59 (8.6%), with the diagnosis confirmed by genetic testing in 52 children. Other syndromic conditions were identified in 50 study participants (7.3%); Williams syndrome (N = 8) and trisomy 21 (N = 7) were the most common non-NSD syndromic conditions found. Clinical characteristics statistically significantly associated with a diagnosis of NSD in patients with PVS included lymphedema, cryptorchidism, hearing loss, pectus deformity, feeding issues, FTT, developmental delay, short stature, ocular findings, SVPS, hypertrophic cardiomyopathy, and ASD. Among these characteristics, the strongest predictors of NDS were cryptorchidism (conditional probability, 0.70), pectus deformity (conditional probability, 0.66), and ocular findings (conditional probability, 0.48). For children with PVS, pectus deformity, and developmental delay, the conditional probability of NDS was 0.82.The authors conclude that the prevalence of NSD is high in children with PVS, and that a diagnosis of NSD should be considered in PVS patients with other, specific, clinical characteristics.Dr Spar has disclosed no financial relationship relevant to this commentary. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.PVS is the most common type of pulmonary stenosis (characterized by fused commissures with thickened leaflets of the pulmonary valve) and accounts for 8–12% of all CHD.1 PVS can range from mild to critical, with critical being the most severe form of pulmonary stenosis (PS) with inadequate pulmonary blood flow. In NSD the pulmonary valve is dysplastic with prominent leaflet thickening, with a small valve annulus and reduced mobility.2 Typical physical examination findings include an audible click, splitting of S2 and a systolic ejection murmur heard at the second left intercostal space. Echocardiogram confirms diagnosis with visualization of the pulmonary valve anatomy and provides determination of severity of stenosis by measuring the pressure gradient over the pulmonary valve.NSD has autosomal dominant inheritance with significant genetic heterogeneity. The most common pathogenic variants include PTPN11 gene (50% of patients with NSD). There are also at least 17 genes related to encoding of protein of the Ras-MAPK signaling pathway associated with NSD.1,3 Typical clinical manifestations are heterogeneous, with common features including widely spaced eyes, low-set ears, short stature, and PVS.4 Greater than 80% of patients with NSD have cardiac involvement, with the majority having PS and hypertrophic cardiomyopathy.5 Other cardiac lesions seen include ASD, ventricular septal defect, tetralogy of Fallot, pulmonary artery stenosis, coarctation of aorta, and primum type atrial septal defect.3The investigators of the current study reviewed all patients with a diagnosis of PVS without other cardiac lesions over a 10-year period. Patients with a clinical diagnosis after evaluation by a geneticist or confirmed by molecular testing were identified as having NSD. The investigators found that 59 of 686 (8.6%) patients with PVS had NSD. Of the 59, there were 52 children who had a molecular diagnosis, and 6 had a clinical diagnosis. Of patients with PVS, those with NSD were commonly had ASD, hypertrophic cardiomyopathy, and SVPS.PVS is commonly seen in patients with NSD. Genetic evaluation is a consideration in patients with PVS and other features known to be associated with NSD.

The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with Pulmonary Valve Stenosis

To investigate the prevalence of Noonan spectrum disorders in a pediatric population with pulmonary valve stenosis (PVS) and explore other characteristics of Noonan spectrum disorders associated with PVS. A retrospective medical record review was completed for patients with a diagnosis of PVS seen at the Children's Hospital Colorado Cardiology clinic between 2009 and 2019. Syndromic diagnoses, genotypes, cardiac characteristics, and extracardiac characteristics associated with Noonan spectrum disorders were recorded; statistical analysis was conducted using R. Syndromic diagnoses were made in 16% of 686 pediatric patients with PVS, with Noonan spectrum disorders accounting for 9% of the total diagnoses. Individuals with Noonan spectrum disorders were significantly more likely to have an atrial septal defect and/or hypertrophic cardiomyopathy than the non-Noonan spectrum disorder individuals. Supravalvar pulmonary stenosis was also correlated significantly with Noonan spectrum disorders. Extracardiac clinical features presenting with PVS that were significantly associated with Noonan spectrum disorders included feeding issues, failure to thrive, developmental delay, short stature, and ocular findings. The strongest predictors of a Noonan spectrum disorder diagnosis were cryptorchidism (70%), pectus abnormalities (66%), and ocular findings (48%). The presence of a second characteristic further increased this likelihood, with the highest probability occurring with cryptorchidism combined with ocular findings (92%). The 9% prevalence of Noonan spectrum disorder in patients with PVS should alert clinicians to consider Noonan spectrum disorders when encountering a pediatric patient with PVS. The presence of PVS with 1 or more Noonan spectrum disorder-related features should prompt a genetic evaluation and genetic testing for RAS pathway defects. Noonan spectrum disorders should also be included in the differential when a patient presents with supravalvar pulmonary stenosis.

P268 Anomalies of pulmonary arteries in Tetralogy of Fallot in developing countries: study of 100 cases in indian population

Abstract Introduction Right ventricular outflow tract (RVOT) obstruction in some or other form is one of the major components of Tetralogy of Fallot. It can occur at any level, isolated or in combination, from Infundibulum (most common), Pulmonary valve, Main pulmonary artery, Right and Left pulmonary arteries and up to their segmental branches. Incidence of pulmonary artery anomalies are reported between 15-20%, though some reported as high as 40%. Purpose The objective of this retrospective observational study is to determine the presence and degree of pulmonary artery abnormalities and associated cardiac defects in patients with Tetralogy of Fallot and to define the pulmonary arterial anatomy to guide the further surgical management. Method A total of 100 newly diagnosed or follow up cases of TOF irrespective of age (range 5 days- 32 years) and gender (32 female, 68 male) who were planned for surgical management and referred for evaluation of pulmonary artery anatomy. All patient underwent non-ECG gated CT pulmonary Angiography in Toshiba 64 slice CT scanner. CT data was analyzed retrospectively to look for cardiac and pulmonary artery anatomy by one independent observer having experience in cardiac radiology. Results 92 patient had infundibular and valvular stenosis and 8 patients has atretic pulmonary valve with additional supravalvar pulmonary stenosis in 17% patient. Out of total 100 patients, 35% had pulmonary artery abnormalities. This included 19 patient (19%) with isolated main pulmonary artery (MPA) abnormality, 6 % had isolated left pulmonary artery (LPA) abnormality, 2 had isolated right pulmonary artery abnormality, 4% had combined MPA and LPA abnormality, 2% had combined MPA and RPA abnormalities and 1% patient had all 3 (MPA,LPA,RPA) involvement in form of stenosis or hypoplasia. As TOF is commonly associated with other cardiac structural anomalies, we encountered following associations in our study – aortopulmonary collaterals (37%), Patent ductus arteriosus (29%), right sided aortic arch (19%), bilateral superior vena cava (10%), bovine arch (3%), double aortic arch (2%), d malposition of great vessels (2%), l malposition of great vessels (1%), situs inversus (1%), dextrocardia (1%), annuloaortic ectasia (1%) aortopulmonary window (1%) and cardiac totally anomalous pulmonary venous connection (1%). Conclusions Anomalies of pulmonary arteries are important determinant of surgical outcome of TOF patients. CT angiography is now established modality to delineate pulmonary artery and other anatomical details in TOF patient. Pulmonary artery anomaly can range from isolated branch pulmonary stenosis to diffuse hypoplasia of pulmonary vasculature, based on which management can differ from complete correction to palliative or medical management only. Our study emphasize the importance of pulmonary artery evaluation and its variation among patients of TOF. Abstract P268 Figure.

Pulmonary valve stenosis in the adult patient: pathophysiology, diagnosis and management

### Learning objectives The most common form of right ventricular outflow tract (RVOT) obstruction is pulmonary valve stenosis. Pulmonary stenosis (PS) occurs in isolation in 8%–10% of congenital heart disease...

Surgical Outcomes of Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery in Children: An Echocardiography Follow-up.

Background:Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare but potentially life-threatening congenital heart defect. A retrospective analysis was carried out to elucidate the surgical outcomes of ALCAPA in infants and children using follow-up echocardiography.Methods:From September 2008 to March 2017, 26 children diagnosed with ALCAPA underwent left coronary re-implantation. All surviving patients received echocardiography during follow-up.Results:The mortality rate after the operation was 11.5%. Before repair, twenty patients (76.9%) presented with left ventricular (LV) dysfunction. The mean Z-score of the preoperative LV end-diastolic diameter was 4.42 ± 2.09. Mitral regurgitation (MR) was present in all patients. Two patients (7.7%), both with mitral valve prolapse, underwent mitral valve repair at the time of ALCAPA repair. Two children required postoperative extracorporeal membrane oxygenation. LV function normalized at a median time of 5.3 months (range: 0.5–36.0 months). The Z-score of the LV end-diastolic diameter decreased simultaneously. The degree of MR gradually decreased in all surviving patients. All patients had patency of the proximal left coronary artery confirmed by echocardiography at the most recent follow-up. Six patients (26.1%) showed supravalvar pulmonary stenosis and seven patients (30.4%) showed right pulmonary stenosis during follow-up.Conclusions:Coronary re-implantation was effective for rebuilding a dual coronary system in patients with ALCAPA and resulted in progressive improved LV function and reduced functional MR. Echocardiography was valuable for evaluating the outcomes. LV function, the degree of MR, and possible complications could be detected with follow-up echocardiography.

Rare Case of Membranous Obstruction at the Origin of Left Pulmonary Artery: Role of Perioperative Echocardiography to Evaluate the Anatomy of Pulmonary Artery

ABSTRACT Branch pulmonary artery (PA) stenosis may occur as an isolated finding or in conjunction with other cardiac malformations; it may be congenital or acquired postoperatively. Branch PAs need to be assessed individually to determine the adequacy of their size, whether they are confluent or nonconfluent, any stenosis at origin or distally, and severity of stenosis. Certain lesions, such as supravalvar pulmonary stenosis, or stenosis at the branch PAs bifurcation, are better dealt with at surgery. Thus, perioperative transthoracic and transesophageal echocardiography (TEE) assume a very important role in precisely evaluating the anatomy of main and branch PAs. How to cite this article Bhat IH, Damodaran S, Mandal B. Rare Case of Membranous Obstruction at the Origin of Left Pulmonary Artery: Role of Perioperative Echocardiography to Evaluate the Anatomy of Pulmonary Artery. J Perioper Echocardiogr 2017;5(2):74-76.

The Concept of the Arch Window in the Spiral Switch of the Great Arteries.

When the arterial switch operation includes the Lecompte maneuver, the arterial trunks are reconnected in parallel, rather than the spiral fashion observed in the normal heart. Thus, although the ventriculo-arterial connections are hemodynamically corrected, the anatomic arrangement cannot be considered normal. We hypothesized that, if feasible, it would be advantageous to restore a spiral configuration for the arterial trunks. In 58 patients, we reconstructed the arterial trunks such that, postoperatively, the pulmonary channel spirals round the aorta, passing to either the right or the left, and branches posteriorly. We compared the outcomes with those in 95 patients undergoing a standard non-spiraling operation over the same period. Average follow-up was 8.2±4.5years. The estimated 10-year survival was similar in the cohorts, at 94.7% for those with spiraling trunks, as compared to 90.4% for those with parallel outflow tracts. Reoperation-free survival at 10years was not significantly different (87.6 vs. 90.5%). Supravalvar pulmonary stenosis, aortic neo-coarctation, or left bronchial stenosis, however, was encountered in one-eighth of those undergoing a standard operation. None of these complications occurred in those patients who, postoperatively, had spiraling outflow tracts (P=0.002). Reconstruction of spiraling trunks after the arterial switch has, thus far, avoided the complications of supravalvar pulmonary stenosis, neo-aortic kinking, or bronchial stenosis. The spiraling arrangement prevents compression of the pulmonary vessels and bronchial tree by the aorta, since it provides a wide window in the new aortic arch.

Intervention for Supravalvar Pulmonary Stenosis After the Arterial Switch Operation

The arterial switch operation is standard of care for infants born with dextrotransposition of the great arteries. Supravalvar pulmonary stenosis is a common complication that may require reintervention-balloon angioplasty, stenting, or surgical augmentation. A subset of patients requires more than one reintervention. We performed a retrospective review of patients who underwent the arterial switch operation for dextrotransposition of the great arteries at a single institution between August 1990 and January 2014. Anatomic, perioperative and follow-up data were collected. Reinterventions were stratified in a site-specific manner. Statistical analysis was performed using IBM SPSS version 21 (IBM Corp, Armonk, NY). Of the 103 patients who met inclusion criteria, 28% (29) required reintervention for supravalvar pulmonary stenosis; 41% of those receiving primary reintervention required an additional 21 reinterventions. Balloon angioplasty of the main pulmonary artery and left pulmonary artery was associated with the need for multiple reinterventions (odds ratio 4.9, p= 0.051, and odds ratio 5.1, p= 0.029, respectively). Freedom from future reintervention at the main pulmonary artery and left pulmonary artery was significantly shorter after balloon angioplasty relative to alternative reintervention options (hazard ratio 10, p= 0.005, and hazard ratio 3.2, p= 0.02, respectively). Balloon angioplasty of the right pulmonary artery was not associated with an increased risk of reintervention (p= 0.42). Supravalvar pulmonary stenosis after the arterial switch operation for dextrotransposition of the great arteries is common and more than one reintervention are required in a subset of patients. The benefit of balloon angioplasty of the main pulmonary artery and left pulmonary artery was shown to be temporary. Attempting balloon angioplasties at these locations remain reasonable, although families should be counseled about the increased incidence of, and decreased time to, subsequent reintervention that is associated with this treatment option.

Three-Sinus Repair of Elastin Arteriopathy Associated Supravalvar Pulmonary Stenosis With Bilateral Branch Pulmonary Artery Involvement

Elastin arteriopathy-associated supravalvar pulmonary stenosis is characterized by a thick intraluminal ringlike obstruction at the sinotubular junction of the pulmonary valve. Extension of disease into the branch pulmonary arteries is common. A three-sinus pulmonary trunk augmentation combined with bilateral branch pulmonary augmentation is presented. This approach normalizes the pulmonary trunk and allows optimal augmentation of the central pulmonary arteries.

Aortic Implantation of Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery: Long-Term Outcomes

Since 1989 all patients with anomalous origin of the left coronary artery from the pulmonary artery at our institution have been treated with aortic implantation. The purpose of this review was to assess the late outcomes of these patients, especially regarding left ventricular (LV) function and mitral valve insufficiency. Between 1989 and 2014, 36 patients had aortic implantation of anomalous origin of the left coronary artery from the pulmonary artery. Mean age at surgery was 2.5 ± 5.1 years (median, 0.5 years). Operative strategy included antegrade cold-blood cardioplegia, main pulmonary artery transection, aortic implantation with a large button of pulmonary artery, pulmonary reconstruction with fresh autologous pericardium, and prolonged postoperative inotropic and ventilator support. Mitral regurgitation and LV dysfunction were graded as 0 to 4 (0 = none, 1 = trivial, 1.5 = trivial-mild, 2 = mild, 2.5 = mild-moderate, 3 = moderate, 3.5 = moderate-severe, and 4 = severe). Mean mitral regurgitation grade preoperatively was 2.95 ± 0.95. Mean LV dysfunction grade was 3.14 ± 1.27. Mean cross-clamp and cardiopulmonary bypass times were 49.1 ± 18 minutes (median, 48.5 minutes) and 147.5 ± 45 minutes (median, 139 minutes), respectively. There was no operative or late mortality. Four patients had delayed sternal closure. Mean duration of ventilator support was 11 ± 6.6 days (median, 9 days). Two patients required 3 and 6 days of postoperative extracorporeal mechanical circulatory support. Mean length of stay was 25 ± 18 days (median, 19 days). No patient has required reoperation for supravalvar pulmonary stenosis, coronary stenosis, or mitral valve repair or replacement. Late echocardiographic follow-up shows a mean mitral regurgitation grade of 1.67 ± 1.05 and a mean LV dysfunction grade of 0.23 ± 0.68. Aortic implantation is our procedure of choice for patients with anomalous origin of the left coronary artery from the pulmonary artery. No patient required mitral valve repair or transplant. There was marked improvement of mitral regurgitation grade, return to essentially normal LV function, and no mortality during a 25-year period.

Early and 1-year outcome and predictors of adverse outcome following monocusp pulmonary valve reconstruction for patients with tetralogy of Fallot: A prospective observational study

Background and Objectives:Repair of tetralogy of Fallot (TOF) with monocusp pulmonary valve reconstruction prevents pulmonary regurgitation (PR) for a variable period. Since postoperative outcome is governed by PR and right ventricular function, we sought to assess the severity of pulmonary regurgitation and right ventricular outflow (RVOT) gradient in the immediate postoperative period and at 1 year and attempted to identify the anatomical substrates responsible for adverse outcomes.Methods:The study included 30 patients. Transthoracic echocardiography was performed before surgery, within 5 days of surgery, and 1 year later. Presence and severity of PR, RVOT gradient, and residual branch pulmonary stenosis were assessed. Right ventricular and monocusp valve functions were studied.Results:Median age was 36.5 months (3-444 months). There were no deaths. Pulmonary regurgitation was mild in 18, moderate in 10, and severe in 2 patients immediately following surgery. At 1 year, 10 patients had severe PR and one had significant RVOT gradient. None of the variables like age, presence of supravalvar pulmonary branch stenosis, main pulmonary artery diameter, or mobility of monocusp valve was found to have any significant association with the progression of PR. McGoon index <1.5 showed a trend toward more PR, while patients with more residual RVOT gradient had lesser regurgitation.Conclusions:Repair of TOF with monocusp pulmonary valve reduces immediate postoperative PR. At 1 year, the monocusp valve underwent loss of function in a significant proportion and PR also progressed. This study could not identify any predictors of progression of PR, though patients with McGoon index <1.5 tended to have more PR while those with more outflow gradient had lesser PR.

Influence of Vortices in the Sinus of Valsalva on Local Wall Shear Stress Distribution

Transposition of the great arteries (TGA) is one of the most severe congenital heart diseases. The arterial switch operation (ASO) is the procedure of preference for treatment of TGA. After ASO, some patients suffer from circulatory system problems such as neo-aortic root dilatation and neo-aortic valve regurgitation, and supravalvar pulmonary stenosis. The neo-aortic root dilatation is often explained by the structural vascular difference between normal great arteries and the neo-aorta after ASO. Since the aortic and pulmonary roots generally remain in situ after ASO, i.e., the original pulmonary artery is connected to the left ventricle (LV), whereas the original aorta is connected to the right ventricle, the neo-aorta has no sinus of Valsalva after ASO. The influence of these morphological changes on the blood flow field at the aortic root should be investigated in detail as well as the structural vascular difference to consider the circular system problems. In this study, we apply the virtual flux method (VFM), which is a tool to describe stationary or moving body shapes in a Cartesian grid, to the 2D aortic valves and reproduce the blood flow fields around the aortic valves and the sinus of Valsalva by regularized lattice Boltzmann method (RLBM), and consider the influence of longitudinal length of sinus of Valsalva on blood flow fields around the aortic valves. As a result, we found that the longitudinal length of the sinus affects development of vortices around the aortic valves strongly. We also assessed the wall shear stress (WSS) distribution on the aortic valves and sinus wall and showed the effect of vortices in the sinus of Valsalva on local WSS distribution.

Pulmonary Valve Preservation Strategies for Tetralogy of Fallot Repair

was affirmed in a significant number of patients who tolerated the persistent effects of right ventricular volume overload for many years. In a significant number of postoperative patients, however, long-term complications of pulmonary regurgitation, residual ventricular septal defects (VSD), distal pulmonary artery stenosis, right ventricular dysfunction, atrial or ventricular arrhythmias, and exercise intolerance 2-5 required further operative intervention to address the residual defects, perform concomitant arrhythmia surgery, and pulmonary valve insertion.

Past, present, and future of the arterial switch operation: historical review

The arterial switch operation is the extant surgical correction after a long series of palliations attempted and/or successfully achieved for the treatment of discordant ventriculoarterial connections. As early as 1954, pioneers such as Mustard, Bailey, Kay, and Idriss led the way with at first disheartening failures, temporarily leading to abandoning the procedure. The first successful atrial baffle procedure in 1958 established itself as the procedure of choice for treating discordant ventriculoarterial connections, but tenacity, courage, and vision to pursue anatomic correction finally led to the first successful arterial switch in 1975 by Jatene. After a decade to perfect surgical technique and timing indications for the various anatomic subtypes, the new era of the neonatal arterial switch since the late 1980s set the very high standards that we all know and expect today. Despite excellent early and long-term survival, important residual lesions are increasingly being recognised. Expected anatomic residuals include supravalvar pulmonary stenosis, neoaortic valve insufficiency, and coronary ostial stenosis. Reinterventions and rare, but challenging surgical reoperations address these residual findings with satisfactory outcomes. Quality of life into young adulthood is satisfactory, but functional problems include reduced exercise capacity, diffuse coronary insufficiency, and neurodevelopmental shortcomings, of which the true incidence and potential clinical implications are still unknown. The arterial switch is a spectacular anatomic correction for a once lethal condition and currently the best surgical solution for patients with discordant ventriculoarterial connections. It is, however, far from a true cure; closer and ongoing follow-up for future care will continue to be required.

Decreased Incidence of Supravalvar Pulmonary Stenosis After Arterial Switch Operation

Supravalvar pulmonary stenosis (SVPS) is frequently observed after arterial switch. Traditionally the coronary arteries are removed from the neopulmonic root by excising the entire sinus of Valsalva. As a result, reconstruction of the neopulmonic root requires a pericardial patch encompassing two-thirds of the anastomosis between the neopulmonic root and pulmonary artery. We present a technique where the coronary arteries are removed as limited buttons of sinus tissue, leaving the transected edge of the neopulmonic root intact. We hypothesize that maintaining native arterial tissue in the anastomosis between the neopulmonic root and the pulmonary artery bifurcation reduces postoperative SVPS. We performed a retrospective review of neonates with D-transposition of the great arteries undergoing arterial switch procedure from 1996 to 2009. Charts were reviewed, and clinical outcomes recorded for each patient. Most recent echocardiograms were evaluated for right ventricular outflow tract obstruction. A total of 120 patients received arterial switch using this technique. There was 99% survival and no injuries to the coronary arteries regardless of anatomy. Total follow-up was 564 patient-years. Mean follow-up at last clinical visit was 66 ± 46 months. Evaluation of the most recent outpatient echocardiogram revealed an average peak instantaneous gradient across the neopulmonic root of 22.5 ± 5 mm Hg. Only 7 (5%) patients required reintervention (balloon dilation, n=5; surgery, n=2). Our technique of removing the coronary arteries as limited buttons, and anastomosis of the pulmonary artery using only native arterial tissue provides excellent midterm results with minimal SVPS.

Reoperative Techniques for Complications After Arterial Switch

The purpose of this study is to review our experience with late reoperations after the arterial switch operation (ASO) and to introduce reparative solutions adapted from previous techniques. A retrospective study was performed on 23 patients who underwent late reoperations after ASO between 1983 and 2010. Eighteen patients were from our concomitantly reported cohort of 258 ASO patients and 5 came from distant referrals. Twenty-seven reoperations on 23 patients were performed for lesions relating to coronary arteries (9 procedures, 7 patients), the neoaortic root (12 procedures, 10 patients), and the right ventricular outflow tract (6 procedures, 6 patients). Four patients died: 1 from an exsanguinating gastric ulcer 4 years after prosthetic valve replacement; 1 from coronary occlusion one month postoperatively from an unroofed intramural left main coronary artery; and 2 after supravalvar pulmonary artery stenosis repair complicated by coexisting left ventricular dysfunction from the original ASO. The ASO remains the treatment of choice for transposition of the great arteries and its variants. While the incidence of late reintervention is low, a subset of patients will require operations that extend the principles of myocardial revascularization, left ventricular outflow tract reconstruction, and relief of pulmonary stenosis.

Lethal presentation of neurofibromatosis and Noonan syndrome

Neurofibromatosis type 1 and Noonan syndrome are both common genetic disorders with autosomal dominant inheritance. Similarities between neurofibromatosis type 1 and Noonan syndrome have been noted for over 20 years and patients who share symptoms of both conditions are often given the diagnosis of neurofibromatosis-Noonan syndrome (NFNS). The molecular basis of these combined phenotypes was poorly understood and controversially discussed over several decades until the discovery that the syndromes are related through disturbances of the Ras pathway. We present an infant male with coarse facial features, severe supravalvar pulmonic stenosis, automated atrial tachycardia, hypertrophic cardiomyopathy, airway compression, severe neurological involvement, and multiple complications that lead to death during early infancy. The severity of clinical presentation and significant dysmorphic features suggested the possibility of a double genetic disorder in the Ras pathway instead of NFNS. Molecular analysis showed a missense mutation in exon 25 of the NF1 gene (4288A>G, p.N1430D) and a pathogenic mutation on exon 8 (922A>G, p.N308D) of the PTPN11 gene. Cardiovascular disease has been well described in patients with Noonan syndrome with PTPN11 mutations but the role of haploinsufficiency for neurofibromin in the heart development and function is not yet well understood. Our case suggests that a double genetic defect resulting in the hypersignaling of the Ras pathway may lead to complex cardiovascular abnormalities, cardiomyopathy, refractory arrhythmia, severe neurological phenotype, and early death.

Simultaneous Repair of Supravalvar Aortic and Supravalvar Pulmonary Stenosis Using the 3-Patch Technique

Patients with Williams-Beuren syndrome may have bilateral outflow tract obstruction. We report a simultaneous repair of supravalvar aortic and supravalvar pulmonary stenosis using the 3-patch technique.