Pulmonary Atresia With Ventricular Septal Defect Research Articles

Potential of Transthoracic Echocardiography and Cardiac CT in Pulmonary Arteries Assessment in Children With Pulmonary Atresia With Ventricular Septal Defect

Objective: To assess and compare the potential of transthoracic echocardiography (TTE) and cardiac computed tomography (CT) in determining severity of pulmonary artery hypoplasia in children with pulmonary atresia with ventricular septal defect (PA-VSD) during preoperative planning.Materials and methods: The study included 38 children (mean age, 1.5 years; 97% of the patients younger than 1 year) with a clinical diagnosis of PA-VSD. All the patients underwent TTE; 36 of them underwent cardiac CT, while 33 children had direct angiocardiography. During all diagnostic methods we performed morphometry of the pulmonary trunk (if any) and proximal and distal parts of right and left pulmonary arteries, calculated z score for every vessel, Nakata index, and McGoon ratio. All the results were compared with fiof direct angiography and/or intraoperative data. The interval between TTE, cardiac CT, and angiocardiography or open surgery was less than 10 days. The criterion for hypoplasia of the pulmonary artery and its branches was z score deviation less than (−2) from reference values. Nakata index less than 200 mm2/m2 and McGoon ratio less than 1.0 were considered contraindications for radical correction.Results: We found no statistically significant difference (P > .05) when comparing the potential of TTE and cardiac CT with direct angiography/intraoperative data in terms of morphometry of the proximal parts of the right and left pulmonary arteries and calculating z scores. All the methods demonstrated high diagnostic efficacy. We found statistically significant differences when comparing the potential of TTE and cardiac CT in pulmonary trunk angiometry: the results of pulmonary trunk measurement using TTE were statistically significantly different from the findings of cardiac CT and angiography/intraoperative data with significant underestimation of vessel diameters (P < .05). The results of measurements of the distal parts of the pulmonary artery using TTE were statistically significantly different from those of cardiac CT and direct angiography/intraoperative data with significant underestimation of vessel diameters (P < .05). There were no statistically significant differences between CT and direct angiography/intraoperative data in assessing the diameters of the distal branches of the pulmonary artery. When assessing McGoon ratio and Nakata index using TTE, we found statistically significant differences (underestimation of values) in comparison with direct angiography (P < .05). Comparison of McGoon ratios measured by TTE and cardiac CT also demonstrated their statistically significant underestimation by TTE (P < .05). The calculated McGoon ratio during cardiac CT did not differ significantly from the direct angiography findings.Conclusions: TTE cannot be considered the final method for preoperative assessment of the pulmonary artery system development in children with PA-VSD due to the limited visualization of the distal parts of the right and left pulmonary arteries and significant underestimation of the pulmonary trunk diameter and indices. Cardiac CT proved its high effectiveness in assessment of hypoplasia severity and can be an alternative to direct angiography.

The results of rastelli procedure for pulmonary atresia with ventricular septal defect

The objective of this study evaluated the results of Rastelli procedure for Pulmonary atresia with ventricular septal defect (PA-VSD) in E hospital.
 Methods: This was a review of seri PA-VSD cases who underwent Rastelli procedure from 8/2017 to 12/2021.[1]
 Results: There were 36 patients who underwent complete surgical repair (Rastelli procedure), include 26 patients with type A and 10 patients with type B. The mean age was 15,4 months and the mean weight was 8,3 kilograms. 14 patients had previous temporary surgery. The time of cardiopulmonary bypass, aortic clamping and ventilator were: 87,8 mins; 59,4 mins and 40,8 hours. There was 2,7% early death post opration 7 days in ICU. During follow-up time 31,2 months after surgery, there was no late death; 8,6% underwent reinterventions mostly due to pulmonary anastomotic stenosis; 2,8% with endocarditis.
 Conclusion: Rastelli procedure had low mortality rate to treat patients with PA-VSD. The hight rate of pulmonary anastomotic stenosis and reinterventional requirement post operation during follow-up still remain challenges.

Long-term outcomes of pulmonary atresia with ventricular septal defect by different initial rehabilitative surgical age.

There is a lack of evidence guiding the surgical timing selection in pulmonary atresia with ventricular septal defect. This study aims to compare the long-term outcomes of different initial rehabilitative surgical ages in patients with pulmonary atresia with ventricular septal defect (PAVSD). From January 2011 to December 2020, a total of 101 PAVSD patients undergoing the initial rehabilitative surgery at our center were retrospectively reviewed. Receiver-operator characteristics curve analysis was used to identify the cutoff age of 6.4 months and therefore to classify the patients into two groups. Competing risk models were used to identify risk factors associated with complete repair. The probability of survival and complete repair were compared between the two groups using the Kaplan-Meier curve and cumulative incidence curve, respectively. The median duration of follow-up was 72.76 months. There were similar ΔMcGoon ratio and ΔNakata index between the two groups. Multivariate analysis showed that age ≤6.4 months (hazard ratio (HR) = 2.728; 95% confidence interval (CI):1.122-6.637; p = 0.027) and right ventricle-to-pulmonary artery connection (HR = 4.196; 95% CI = 1.782-9.883; p = 0.001) were associated with increased probability of complete repair. The cumulative incidence curve showed that the estimated complete repair rates were 64% ± 8% after 3 years and 69% ± 8%% after 5 years in the younger group, significantly higher than 28% ± 6% after 3 years and 33% ± 6% after 5 years in the elder group (p < 0.001). There was no significant difference regarding the estimated survival rate between the two groups. Compared with those undergoing the initial rehabilitative surgery at the age >6.4 months, PAVSD patients at the age ≤6.4 months had an equal pulmonary vasculature development, a similar probability of survival but an improved probability of complete repair.

A Single-Centre Retrospective Review ofModified Blalock-Taussig Shunts: A22-YearExperience.

This single-centre retrospective study explores demographics and outcomes of patients who underwent a modified Blalock-Taussig shunt (MBTS) over a 22-year period. The predominant surgical approach in this study is a lateral thoracotomy, in contrast to a midline sternotomy. Risks and outcomes of this approach are compared with national and international literature. Demographic, anatomical, clinical, surgical and outcome data of all patients who underwent a MBTS between 2000 and 2022 were collected and analysed, excluding Norwood procedures, which are not performed at this institution. Short- and long-term morbidity and mortality is described. Over the 22-year study period, 185 MBTS were performed in 162 patients, at a median age of 16 days (interquartile range [IQR] 5-59 days) and weight of 3.47 kg (IQR 3-4.25 kg, minimum weight 2 kg). Of these, 79% of patients had a biventricular circulation. Cardiac diagnoses included both univentricular and biventricular anatomy; tetralogy of Fallot (TOF) (36%), transposition of the great arteries/ventricular septal defect/pulmonary stenosis (TGA/VSD/PS) (11%), pulmonary atresia with intact ventricular septum (PA/IVS) (23%), pulmonary atresia with ventricular septal defect (PA/VSD) (14%), other (16%). The most common size of MBTS was 4 mm (71%); 93% were performed via a lateral thoracotomy. There were 47 cases of major operative morbidity, which did not differ significantly with cardiac diagnosis. Overall all-cause mortality was 13.5%. Early operative mortality was 4.3%. Mortality varied with cardiac diagnosis, 6% with TOF and 19% with PA/IVS. There was no era effect on mortality rates, however a lower frequency of major morbidity (23% vs 7%, p=0.03) was observed in the most recent third of the study period. Risk factors for shunt reintervention or mortality included weight <2.5 kg (HR=2.79 [1.37, 5.65], p=0.005), and pre- (HR=3.31 [1.86, 5.9], p<0.001) or postoperative lactic acidosis (HR=1.37 [1.25,1.5], p<0.001). These rates are comparable to those in the literature, with the predominant approach a midline sternotomy. Hobbes etal. from Royal Children's Hospital in Melbourne, Australia reported an overall and operative mortality rate of 12.8% and 5.2%, respectively, while Sasikumar etal. from The Hospital for Sick Children in Toronto, Canada reported an overall and operative mortality of 16% and 10%, respectively, for MBTS procedures over the same time period, however including smaller weight infants. Petrucci etal. described outcomes from the multi-institutional Society of Thoracic Surgeons Congenital Heart Surgery database reporting an overall mortality in MBTS of 7.2% in 1,273 patients with both single and double ventricle anatomy. Mortality rates and risk factors for adverse outcomes are comparable to those previously reported for both univentricular and biventricular groups. These results highlight that outcomes of MBTS performed via lateral thoracotomy are comparable to those by midline sternotomy as reported in the literature. Operating via the lateral approach may be advantageous as it avoids the complications of a midline sternotomy.

Clinical Characteristics of Coronary-to-Pulmonary Artery Fistula in Patients with Pulmonary Atresia and Ventricular Septal Defect.

The existence of a coronary-to-pulmonary artery fistula (CPF) in pulmonary atresia with ventricular septal defect (PAVSD) potentially affects treatment; however, its clinical features have not been comprehensively described due to the disease's rarity. We reviewed 69 cases from 42 studies to reveal the clinical overview of patients with CPF and PAVSD. Among the included patients, the male-to-female ratio was exactly 1:1, and only two patients (3%) exhibited the 22q11.2 microdeletion syndrome. Regarding anatomical features, CPFs originated from the left coronary artery in 65% of patients, and 62% had other major aortopulmonary collateral arteries. Thirty-nine percent of patients had a definitive CPF diagnosis at 0 years of age, whereas 10% were diagnosed in adulthood. Seventy percent underwent catheter angiography to obtain a definitive CPF diagnosis. Ninety-five percent of patients underwent cardiac surgery, and among them, 43% underwent palliative surgery, whereas 52% underwent one-stage repair. Four patients including three adult patients developed cardiac dysfunction due to myocardial ischemia, and three of them exhibited improved cardiac function after the intervention for CPF. Of all the patients, 88% survived and 12% died. The surgical strategy and prognosis were similar to those in PAVSD patients without CPF. This review provides detailed clinical phenotypes that are potentially useful in enhancing the management of patients with this rare disease.

Long-term Outcomes of Staged Complete Repair of Pulmonary Atresia With Ventricular Septal Defect

BackgroundThe optimal strategy for pulmonary atresia with ventricular septal defect (PA-VSD) without major aortopulmonary collateral arteries is yet to be defined. It remains unclear how primary complete repair compares with staged repair. MethodsThis study reviewed the records of 107 patients with PA-VSD who were managed with systemic-to-pulmonary shunts from February 1989 to November 2019. Tables presenting summary statistics of patient and surgical data and Kaplan-Meier curves showing repair, mortality, and reoperation were created. Logistic regression analysis was performed to identify risk factors for repair, morbidity, and mortality. ResultsA total of 91 (85%) patients achieved complete repair at a median age of 1 year (interquartile range [IQR], 8-20 months). Survival was as follows: 97 (90%) patients at 6 months, 91 (85%) at 20 months, and 87 (81%) at 10 years. A shunt diameter of 3.5 mm or less (P = .006) and shunt after 2009 (P < .001) were associated with earlier progression to complete repair. A shunt diameter of 3.5 mm or less was an independent risk factor for interstage morbidity (hazard ratio, 4.5; IQR, 1.1-18.5; P = .039), but it was not associated with complete repair (P = .75) or mortality (P = .62). The median follow-up period was 10.5 years (IQR, 3.6-18.8 years) from birth. ConclusionsThe complete repair and long-term survival rates of staged PA-VSD repair are high. The use of smaller shunts has resulted in earlier complete repair and is associated with increased risk of morbidity but not mortality.

Individualized right ventricular outflow tract reconstruction using autologous pulmonary tissue in situ for the treatment of pulmonary atresia with ventricular septum defect.

The study aims to evaluate the feasibility and effectiveness of an individualized procedure for right ventricular outflow tract (RVOT) reconstruction in pulmonary atresia with ventricular septal defect (PA-VSD). RVOT was reconstructed using autologous pulmonary artery tissue preserved in situ as the posterior wall and a bovine jugular vein patch (BJVP) as the anterior wall in patients with PA-VSD (observation group). The size of the BJVP made from a bovine jugular vein conduit (BJVC) was individually calculated using a formula based on the child's weight and the size of the autologous pulmonary artery (the diameter of BJVC DB⁢J⁢V⁢C = Dt⁢h⁢e⁢o⁢r⁢e⁢t⁢i⁢c⁢a⁢l-W⁢z^-4π). Its effect was then compared with the conventional modified Rastelli procedure based on the BJVC (control group). A total of 22 patients that underwent the new procedure were simultaneously compared with the 25 patients in the control group. No deaths occurred in both groups. Notably, there were no significant differences in mechanical ventilation, ICU and postoperative residence, cardiopulmonary bypass, and aortic cross-clamp time. In the follow-up, which spanned for 8-12 years (mean 9.2 years), only four cases with moderate regurgitation were noted in the observation group without obstruction. In the control group, two patients had a conduit replacement. Three patients suffered from anastomotic stenosis, which was corrected by balloon dilatation. Individualized RVOT reconstruction with autologous pulmonary tissue preserved in situ as the posterior wall is adequate for treating PA-VSD.

Comparison of staged repair versus single-stage complete repair for pulmonary atresia with ventricular septal defect: A systematic review and meta-analysis.

To evaluate comparative outcomes of the repair of pulmonary atresia with ventricular septal defect (PAVSD), done as staged repair (SR) or single-stage complete repair (CR). A systematic online search was conducted using the following databases: PubMed, Scopus, Cochrane database, The Virtual Health Library, Clinical trials.gov, and ScienceDirect for studies comparing SR versus CR for treatment of PAVSD. Total mortality rate, operative and early post-operative mortality rate, post-operative ventilation duration, duration of post-operative intensive care unit (ICU) stay, need for post-operative extra-corporeal membrane oxygenation (ECMO) support rate, transcatheter re-intervention rate, unplanned re-operation rate, freedom from right ventricular outflow tract (RVOT) re-intervention, and length of hospital stay (LOS) were the evaluated outcome parameters. Four comparative studies reporting a total of 264 patients who underwent SR (167 patients) or CR (97 patients) were included. Total mortality was higher in the SR group compared to the CR group (odds ratio (OR) 2.58, P = 0.03). Two groups were comparable regarding operative and early post-operative mortality (OR 1.37, P = 0.62), post-operative ventilation duration (mean difference (MD) - 1.58, P = 0.43), need for post-operative ECMO support rate (OR 4.72, P = 0.16), transcatheter re-intervention rate (OR 0.60, P = 0.53), unplanned re-operation rate (OR 0.73, P = 0.57), and LOS (MD - 3.39, P = 0.45). Higher rate of freedom from RVOT re-intervention was observed in the SR group (OR 4.16, P = 0.00001). Single-staged early CR of PAVSD significantly reduced total mortality rate as compared with SR. However, there is life-long risk of frequent need for RVOT re-interventions. Future high-quality randomised studies with robust methodological qualities are encouraged to evaluate the optimal timing and technique for repair of PAVSD, by analysing more outcomes in large patient groups and multi-centre studies.

Radiofrequency catheter ablation of ventricular tachycardia from the left ventricular summit in congenital heart disease.

Tetralogy of Fallot (ToF) is one of the most prevalent cyanotic congenital heart disease (CHD). Subsequent to the introduction of surgical repair, long-term outcomes for patients with ToF have improved significantly. Pulmonary atresia with ventricular septal defect (PA-VSD) may be considered as an extreme form of classic ToF. Surgical repair not only corrects the haemodynamic but also creates scars that will be source for ventricular arrhythmias. Patients with tetralogy of Fallot are at risk for ventricular arrhythmias and sudden cardiac death. We present the successful treatment of a 7-years-old child with history of PA-VSD treated by surgical correction and ventricular tachycardia from an unusual anatomic place in the left ventricle summit (LVS), using catheter ablation.

Mild Symptoms of SARS-CoV-2 Infection in a 3-Days-Old Newborn with Congenital Heart Disease: A Case Report

Background: SARS-CoV-2 as a member of Coronavirus family, caused a global pandemic in late 2019 and raised concerns about its morbidity and mortality among immune-deficient individuals. Till now, several pediatric cases infected with SARS-CoV-2 have been reported, and some have noted susceptibility to infection in infants and young children, especially those with congenital comorbidities. In this report, we discuss the clinical course, administered treatments, and outcomes of SARS-COV-2 infection in an infant suffering from cardiovascular comorbidity. Case Presentation: We describe a newborn referred to hospital 72 hours postpartum, diagnosed with pulmonary atresia with ventricular septal defect (PA-VSD), and subsequently found to be infected with the SARS-COV-2 virus. The patient presented with tachypnea, lethargy, and a history of recent fever and myalgia in his father. He received intravenous fluid and antibiotic therapy based on an established protocol for COVID-19 treatment by Iran health ministry and was discharged after five days of hospitalization without further complications. Two weeks after discharge, he was referred to the cardiac surgery department for surgical treatment after obtaining a negative result for nasopharyngeal sample SARS-CoV-2 RT-PCR. Conclusions: Mild symptoms and no need for excessive oxygen supports in the current case demonstrate pediatrics patients with COVID-19 have a better prognosis and fewer complications compared with adults, even at early childhood and with the presence of serious cardiac complications.

Accuracy of Fetal Echocardiography in Defining Pulmonary Artery Anatomy and Source of Pulmonary Blood flow in Pulmonary Atresia with Ventricular Septal Defect (PA/VSD).

Precise delineation of central and branch pulmonary artery anatomy, patent ductus arteriosus, and major aorto-pulmonary collateral artery anatomy in the fetal diagnosis of pulmonary atresia with ventricular septal defect is challenging but important to prenatal counseling and postnatal management. We aimed to evaluate the accuracy of fetal echocardiography to determine these anatomical nuances in pulmonary atresia with ventricular septal defect. This was a retrospective, single-institution, 10-year chart review of consecutive prenatal diagnosis of pulmonary atresia with ventricular septal defect for assessment of pulmonary artery, patent ductus arteriosus, and major aorto-pulmonary collateral artery anatomy and comparison with postnatal imaging including echocardiography, cardiac catheterization, and computerized tomography angiography. Twenty-six fetuses were diagnosed with pulmonary atresia with ventricular septal defect during the review period and complete postnatal follow-up was available in 18, all confirming the basic prenatal diagnosis. Fetal echocardiography accurately predicted central and branch pulmonary artery anatomy in 16 (89%) [confluent in 14, discontinuous in 2], patent ductus arteriosus status in 15 (83%) [present in 10, absent in 5], and major aorto-pulmonary collateral arteries in 17 (94%) [present in 9, absent in 8]. Accuracy increased to 100% for pulmonary artery anatomy (16/16) and major aorto-pulmonary collateral artery (17/17) when excluding patients whose anatomy was reported as uncertain on fetal echocardiography. Fetal echocardiography can provide accurate anatomical details in the vast majority of fetuses with pulmonary atresia with ventricular septal defect. This allows for more anatomy-specific counseling, prognostication, and improved selection of postnatally available management options.

Prenatal diagnosis of major aortopulmonary collateral arteries (MAPCA) in fetuses with pulmonary atresia with ventricular septal defect and agenesis of ductus arteriosus

Objective The aim of this study was to describe the prenatal diagnosis of Major Aortopulmonary Collateral Arteries (MAPCAs), and to present a systematic ultrasound method for evaluating lung vascularity in fetuses with pulmonary atresia with ventricular septal defect (PAVSD) and agenesis of ductus arteriosus (DA). Method This retrospective study evaluated fetuses diagnosed with PAVSD with agenesis of DA, for the presence of the MAPCAs anomaly. Fetal pulmonary vasculature was investigated by 2D and 4D Spatio Temporal Image Correlation (STIC) technology using High Definition Color Doppler. Results Over a 10 year period, six fetuses were diagnosed with MAPCAs. Prenatal diagnosis was made between 17 w 6 d and 28 w 4 d in five fetuses, with the sixth diagnosed at 37 w 6 d. All six had PAVSD with agenesis DA, four exhibited pulmonic atresia without any arterial outflow, while two fetuses presented with absent left pulmonary artery, and a miniscule right pulmonary artery. In five cases, the parents elected to terminate the pregnancy and the last, although born alive, did not survive an attempt at restorative surgery and died at the age of 5 months. Postnatal CT angiography imaging of this case revealed the subclavian origin of the MAPCAs. Chromosomal micro array analysis of the amniotic fluid revealed that five of the six fetuses were normal and one was lost to follow up. Conclusion MAPCAs should be investigated in cases of PAVSD with agenesis DA. A meticulous ultrasound evaluation using 2D and 4D STIC can permit the prenatal diagnosis of this anomaly and provide the parents with the opportunity for prenatal consultation.

A loss-of-function mutation p.T256M in NDRG4 is implicated in the pathogenesis of pulmonary atresia with ventricular septal defect (PA/VSD) and tetralogy of Fallot (TOF).

Pulmonary atresia with ventricular septal defect (PA/VSD) is a rare congenital heart disease (CHD) characterized by a lack of luminal continuity and blood flow from either the right ventricle or the pulmonary artery, together with VSDs. The prevalence of PA/VSD is about 0.2% of live births and approximately 2% of CHDs. PA/VSD is similar to tetralogy of Fallot (TOF) in terms of structural and pathological characteristics. The pathogenesis of these two CHDs remains incompletely understood. It was previously reported that N-myc downstream-regulated gene (NDRG)4 is required for myocyte proliferation during early cardiac development. In the present study, we enrolled 80 unrelated patients with PA/VSD or TOF and identified a probably damaging variant p.T256M of NDRG4. The p.T256M variant impaired the proliferation ability of human cardiac myocytes (hCM). Furthermore, the p.T256M variant resulted in G1 and G2 arrest of hCM, followed by an increase in p27 and caspase-9 expression. Our results provide evidence that the p.T256M variant in NDRG4 is a pathogenic variant associated with impaired hCM proliferation and cell-cycle arrest and likely contributes towards the pathogenesis of PA/VSD and TOF.

The Clinical Application Value of Selective Unifocalization in the Treatment of Severe Pulmonary Artery Atresia with Ventricular Septal Defect

Background: This study aims to explore the efficacy of selective unifocalization (UF) for major aortopulmonary collateral arteries (MAPCAs) unifocalization in children with pulmonary atresia with ventricular septal defect (PA/VSD). Methods: A retrospective analysis of 13 patients with PA/VSD/MAPCAs who underwent surgery from June 2017 to December 2019. Sex, age, preoperative cardiovascular angiography test results and McGoon ratio were collected. The properties of the collateral arteries were evaluated by angiography, and selective UF for the “dendritic” MAPCAs and ligation of MAPCAs demonstrating distortion and resistance. Results: A total of 13 severe patients underwent one-stage repair, of which 1 case underwent ventricular septal fenestration and died after 2 weeks of ECMO support. The median age was 37 months, and a median weight was 14.0 kg. A right ventricular to aortic systolic pressure ratio (pRV/pAo) of no more than 0.5 was achieved in 12 living patients. Conclusion: Selective unifocalization based on MAPCAs morphology can achieved a good outcome at the early stage. This surgical concept might be provided a novel insight into treatment for some of the subgroups presenting with this complex form of PA/VSD/MAPCAs.

Tetralogy of Fallot or Pulmonary Atresia with Ventricular Septal Defect after the Age of 40 Years: A Single Center Study.

Background: The population of adults with tetralogy of Fallot (TOF) or pulmonary atresia with ventricular septal defect (PA/VSD) is growing and aging. Data regarding older patients are scarce. Prognostic outcome parameters in adults with TOF or PA/VSD ≥ 40 years were studied. Methods: This was a retrospective study of patients ≥ 40 years of age during the study period (January 2005–March 2018). Major adverse cardiac events (MACE) were a combined primary endpoint including death from any cause, prevented sudden cardiac death, pacemaker implantation, arrhythmia, and new-onset heart failure. Additionally, MACE II (secondary endpoint) was a combination of death from any cause and prevented sudden cardiac death. Results: 184 (58.7% female, mean age 45.3 ± 7.2 years) patients were included (159 (86.4%) TOF and 25 (13.6%) PA/VSD). During a median follow-up of 3.1 years (IQR: 0.6–6.5), MACE occurred in 35 and MACE II in 13 patients. On multivariable analysis, New York Heart Association class [HR: 2.1, 95% CI: 1.2–3.6, p = 0.009] emerged as an independent predictor for MACE, and age at corrective surgery [HR: 13.2, 95% CI: 1.6–107.1, p = 0.016] for MACE II. Conclusions: Adults with TOF or PA/VSD ≥ 40 years are burdened with significant morbidity and mortality. New York Heart Association class and age at corrective surgery were independent predictors of outcome.

Surgical Options for Pulmonary Atresia with Ventricular Septal Defect in Neonates and Young Infants.

BackgroundThe optimal surgical strategy for pulmonary atresia with ventricular septal defect (PA/VSD) in neonates and young infants is controversial. Staged repair may be associated with a higher risk of inter-stage mortality, while primary repair may lead to frequent post-repair re-interventions.MethodsFrom 2004 to 2017, 65 patients with PA/VSD who underwent surgical intervention before 90 days of age were identified and enrolled in this retrospective study. The cohort was divided into two groups: group-SR, who underwent initial palliation with staged repair (n = 50), and group-PR who underwent primary repair (n = 15).ResultsThere were three post-palliation in-hospital mortalities, four inter-stage mortalities, and one post-repair in-hospital mortality in group-SR. In group-PR, there was one in-hospital death and one late death. Five-year survival rates were comparable between the two groups (group-SR: 83.6%; group-PR: 86.7%; p = 0.754). During the median follow-up duration of 44.7 months (Inter-quartile range, 19–109 months), 40 post-repair re-interventions (22 in group-SR, 18 in group-PR) were performed in 26 patients (18 in group-SR, 8 in group-PR). On Cox proportional hazards model, primary repair was identified as the only risk factor for decreased time to death/1st post-repair re-intervention (Hazard ratio (HR): 2.3, p = 0.049) and death/2nd post-repair re-intervention (HR 2.91, p = 0.033).ConclusionsA staged repair strategy, compared with primary repair, was associated with comparable overall survival with less frequent re-interventions after repair in young infants with PA/VSD. Lowering the inter-stage mortality after initial palliation by vigilant outpatient care and aggressive home monitoring may be the key to better surgical outcomes in this subset.Graphic Surgical outcomes of PA with VSD according to the surgical strategies. Patient 1 (birth weight: 2.7 kg) underwent primary Rastelli-type repair at post-natal day # 50 (body weight: 3.8 kg) using Contegra® 12 mm. The postoperative course was rocky, with long ventilatory support (10 days), ICU stay (14 days), and hospital stay (20 days). Cardiac CT scan at 9 months post-repair showed severe branch pulmonary artery stenosis, which necessitated LPA stenting at 12 months post-repair and RV-PA conduit replacement with extensive pulmonary artery reconstruction at 25 months post-repair. Patient 2 (birth weight: 2.5 kg) underwent RMBT at post-natal day #30 (body weight: 3.4 kg) using 4 mm PTFE vascular graft and staged Rastelli-type repair at post-natal 11 months using a hand-made Gore-Tex valved conduit (14 mm). No post-repair re-intervention has been performed. Cardiac CT scan at 90 months post-repair showed no branch pulmonary artery stenosis.CT computed tomography, ICU intensive care unit, LPA left pulmonary artery, PA pulmonary atresia, PTFE polytetrafluoroethylene, RMBT right modified Blalock–Taussig shunt, RV-PA right ventricle to pulmonary artery, VSD ventricular septal defect.

Current era outcomes of pulmonary atresia with ventricular septal defect: A single center cohort in Thailand

Pulmonary atresia with ventricular septal defect (PA/VSD) is a complex cyanotic congenital heart disease with a wide-range of presentations and treatment strategies, depending on the source of pulmonary circulation, anatomy of pulmonary arteries (PAs), and major aortopulmonary collateral arteries (MAPCAs). Data about the outcomes in developing countries is scarce. We therefore conducted a retrospective study to assess survival rates and mortality risks of 90 children with PA/VSD at Siriraj Hospital, Thailand during 2005–2016. Patients with single ventricle were excluded. Survival and mortality risks were analyzed at the end of 2018. The median age of diagnosis was 0.5 (0–13.8) years. The patients’ PAs were categorized into four groups: 1) PA/VSD with confluent PAs (n = 40), 2) PA/VSD with confluent PAs and MAPCAs (n = 21), 3) PA/VSD with non-confluent PAs and MAPCAs (n = 12), and 4) PA/VSD with small native PAs and MAPCAs (n = 17). Of the 88 patients who underwent operations, 32 patients had complete repair at 8.4 ± 4.6 years old. During the follow-up [median time of 5.7 years (7 days-13.6 years)], 17 patients (18.9%) died. The survival rates at 1, 5, and 10 years of age were 95%, 83.7%, and 79.6%, respectively. Significant mortality risks were the presence of associated anomalies and non-confluent PAs.

22q11.2 deletion syndrome is associated with increased mortality in adults with tetralogy of Fallot and pulmonary atresia with ventricular septal defect

Background22q11.2 Deletion syndrome (22q11.2DS) is common in patients with tetralogy of Fallot (TOF) or pulmonary atresia with ventricular septal defect (PA/VSD) and is associated with worse outcomes in children. Whether this impaired prognosis is also translated into adulthood is unknown, as data in adult patients are limited. We aimed to compare long-term outcomes in adults with TOF or PA/VSD both with and without 22q11.2DS. MethodsThis study prospectively followed a nationwide multicenter cohort of TOF or PA/VSD patients with genetically confirmed presence or absence of 22q11.2DS, from inclusion in the Dutch national CONCOR registry for adults with congenital heart disease (CHD) onward. Outcome measures included all-cause mortality, cardiac mortality, need for pulmonary valve replacement (PVR), ventricular arrhythmias (VA), pacemaker implantation, and ICD implantation. ResultsIn total, 479 patients were included (277 (58%) male, median age 28 [IQR; 21–37] years, 62 (13%) with PA/VSD, 34 (7%) with 22q11.2DS). During a median follow-up of 11 [IQR; 6–13] years, 52 (11%) patients died (8 with 22q11.2DS and 44 without 22q11.2DS). Patients with 22q11.2DS had significant decreased survival after 12 years (76% [95% CI; 62–93]) compared to patients without 22q11.2DS (89% [95% CI; 86–92], p = 0.008). 22q11.2DS was associated with increased risk of all-cause mortality and cardiac-mortality, independent of age, sex, and PA/VSD. No association was found between 22q11.2DS and late complications i.e. PVR, VA, pacemaker, or ICD implantation. ConclusionsAdults with TOF or PA/VSD with 22q11.2DS have a significantly worse survival than adults without this deletion. In patients with TOF or PA/VSD, genetic analysis for the presence of 22q11.2DS is important for risk stratification and genetic counseling.

Investigating Diverse Structure of Pulmonary Blood Vessels in Patients with Combined Pulmonary Atresia and Ventricular Septal Defect and Examining the Effect on Surgery Result

Background This study aimed to investigate diverse structure of pulmonary blood vessels in patients with combined pulmonary atresia and ventricular septal defect and examine the effect on surgery result. Materials and Methods This cohort retrospective study was conducted on admittances to Tehran and Sari Hospitals at 2005-2016 for pulmonary atresia with ventricular septal defect (PA-VSD) with pulmonary artery (PA) anatomical variation. Diagnosis of pulmonary blood vessels in patients with PA-VSD was based on the results of CT Angiography (CTA), MRI, or cardioangiography examinations. Patients were followed up clinically by means of imaging in the course of initial repair, pre-definitive surgery preparation, and post-operative stages. All data sets were analyzed using Stata software version 13.0. Results Abundancy of PA-VSD classes A, B, and C was 34 (37.8%), 51 (56.7%), and 5 (5.6%) individuals respectively, while mean age and standard deviation of subjects for each of the said groups was 166.5±75.6, 135.79±5.3, and 108.4±152 months respectively. 38 (42.2%) were 1-year or younger at the time of initial surgery. As regards between-class age distribution, 18 (52.9%) individuals in group A, 20 (39.2%) individuals in group B, and the entire 5 individuals in group C were collectively above the age of 1 years old. Conclusion In view of the recent studies and the present investigation involving 90 patients with PA-VSD, it is easy to apprehend the large-scale applicability of complete-repair surgical interventions for patients suffering from this disease. This holds true specifically for class A patients who enjoy a longer lifespan and a more favorable prognosis.

Fetal pulmonary atresia with ventricular septal defect: Features, associations, and outcome in fetuses with different pulmonary circulation supply types.

To assess features and outcome in fetuses with pulmonary atresia with ventricular septal defect (PA-VSD). Fetuses with PA-VSD were prospectively enrolled and grouped on the basis of the pulmonary blood supply, including type A (only arterial duct [DA]), type B (both DA and major aortopulmonary collateral arteries [MAPCAs] present), and type C (MAPCAs only). The echocardiography features, associated chromosomal/genetic malformations, and postnatal outcome were compared among the three groups. Fifty-five fetuses with PA-VSD were enrolled. The presence of confluent PAs varied, with the highest displaying rate in type A and lowest rate in type C (100% vs 41.1%). The intrapericardial pulmonary arteries in all groups were hypoplastic but smaller in types B and C than in type A (P < .05). Deletion of 22q11.2 and right aortic arch were more frequently observed in types B and C than in type A. At the end of the study, overall survival rates in type C were lower than those in type A (22.1% vs 77.3%). There are great differences in the size of pulmonary arteries, associated genetic malformations, and perinatal outcomes among fetuses with PA-VSD. These results could be used for family counseling and surgical planning.