Ductal stenting in a neonate with double aortic arch, pulmonary atresia, and ventricular septal defect without airway compression

Patients with Tetralogy of Fallot (TOF) with pulmonary atresia present high perioperative risks during non-cardiac surgeries, making anesthetic management challenging. Caudal anesthesia combined with sedation offers a safe and effective alternative when planned carefully, supported by a sound understanding of the patient's unique physiology and meticulous perioperative monitoring.

Traditionally, the modified Blalock-Taussig-Thomas shunt (mBTTS) has been the standard palliation for duct-dependent pulmonary blood flow (DDPBF) lesions, including tetralogy of Fallot with pulmonary atresia (TOF-PA). However, the risks associated with mBTTS, especially in neonates with low birth weight and small pulmonary arteries, have led to the exploration of less invasive alternatives like ductal stenting (DS). This review compares the anatomy and physiology of TOF with pulmonary stenosis and TOF-PA, noting that TOF-PA often relies on the patent ductus arteriosus (PDA) for pulmonary blood flow. It details the complexities of PDA morphology in DDPBF lesions, which can present as simple or complex structures. Historically, early experiences with DS revealed high complication rates, resulting in cautious recommendations against its use in certain anatomical contexts. However, improvements in stent technology and understanding of the complex congenital cardiac anatomy have improved the feasibility of DS as a viable option when the PDA is the sole source of pulmonary blood flow. We also explore issues like the less durable palliation compared to mBTTS, technically challenging stent placement, rapid neointimal proliferation causing in-stent stenosis and compromising pulmonary artery (PA) perfusion, and asymmetrical PA branch growth in the presence of stent jailing of a branch PA. In conclusion, this review suggests that while DS is increasingly seen as a reasonable alternative to mBTTS, it requires careful patient selection and close monitoring, alongside ongoing research to refine techniques and improve long-term outcomes for TOF-PA patients.

Introduction: Right ventricular outflow tract (RVOT) reconstruction in congenital heart diseases such as tetralogy of Fallot (TOF) often requires a transannular patch, which can lead to postoperative pulmonary regurgitation (PR). Persistent PR may result in significant complications, including right ventricular (RV) dysfunction, arrhythmias, and the need for reintervention. The use of autologous right atrial appendage (RAA) tissue to create a functional neovalve has emerged as a promising alternative. Methods: Twelve pediatric patients who underwent RVOT reconstruction with an RAA neovalve between July 2023 and March 2025 were retrospectively evaluated. Demographic, surgical, and echocardiographic data were analyzed to assess early clinical outcomes. Results: The median age at surgery was eight months (IQR: 6-11), with a median weight of 7.1 kg (range: 5.7-16). Primary diagnoses included TOF (n = 9), TOF with pulmonary atresia (n = 2), and absent pulmonary valve (n = 1). No in-hospital mortality occurred. Predischarge echocardiography showed no or trivial PR in eight patients and mild PR in four patients. At a mean follow-up of 12.8 months, all patients exhibited either no or mild PR, and RV function remained normal. No patient required reintervention. Conclusion: Neovalve reconstruction using autologous RAA tissue is a safe, feasible, and hemodynamically effective technique for RVOT repair in selected pediatric patients. Due to its autologous nature, growth potential, and favorable early outcomes, it offers a meaningful alternative to synthetic or allogenic materials. Further follow-up studies are necessary to evaluate its long-term durability.

This case report details a neonate with functional pulmonary atresia (FPA), initially misdiagnosed prenatally as anatomical pulmonary atresia. Fetal findings included cardiomegaly, severe tricuspid regurgitation, and right ventricular dysfunction. Postnatally, the absence of antegrade pulmonary flow raised concern for anatomical atresia. However, saline contrast echocardiography definitively confirmed patent pulmonary valves, establishing the diagnosis of transient FPA secondary to severe functional right heart impairment without anatomical atresia of the pulmonary valves. This case highlights the potential value of the saline contrast test in distinguishing FPA from anatomical pulmonary atresia, which can help avoid unnecessary interventions. It also provides additional insight into the natural history of prenatally suspected isolated FPA.

Pulmonary Atresia with Intact Ventricular Septum in the Neonate: A Review.

Background: Infective endocarditis (IE) is uncommon in children but is strongly influenced by underlying cardiac anomalies. Abiotrophia defectiva is a rare but clinically significant cause of IE, and is often associated with delayed diagnosis and adverse outcomes. Case presentation: An 11-year-old boy with a history of pulmonary atresia and ventricular septal defect who presented with infective endocarditis caused by A. defectiva at a tertiary care center in Mexico. The patient, underwent valve replacement surgery and received cephalosporin therapy, leading to full recovery. Conclusion: This case illustrates the diagnostic challenge of A. defectiva endocarditis in pediatric patients with congenital heart disease and highlights the need for early recognition and prompt intervention to avoid life-threatening complications.

Background: Pulmonary atresia with ventricular septal defect (PA-VSD) and severe bicuspid aortic stenosis is an uncommon condition that presents significant surgical challenges. The dual obstruction leads to chronic pressure overload, resulting in ventricular hypertrophy and decreased systolic function. A low left ventricular ejection fraction (LVEF) increases the risk of mortality during surgical interventions. Percutaneous balloon aortic valvuloplasty (PBAV) poses additional risks due to the intentional induction of pulselessness during balloon inflation. This case report aims to detail the perioperative management strategies employed during PBAV in a patient with PA-VSD, severe aortic stenosis, and low LVEF.Case: We present a 19-year-old female patient weighing 45 kg with shortness of breath and fatigue. Her oxygen saturation was measured at 90% across all extremities. Electrocardiogram (ECG) findings indicated sinus rhythm with biventricular hypertrophy and incomplete left bundle branch block (LBBB). Chest X-ray revealed cardiomegaly and pulmonary artery dilation, while echocardiography confirmed PA-VSD, severe aortic stenosis with a mean pressure gradient (mPG) of 55 mmHg, and an LVEF of 41.3%. A percutaneous pulseless-BAV was performed using a Tyshak balloon via an antegrade transvenous femoral approach under fluoroscopy and transesophageal echocardiography guidance.Discussion: Anesthesia management focused on gradual medication titration, minimizing patient movement during the procedure, and ensuring comfort due to transesophageal echocardiogram (TEE) probe insertion. A temporary pacemaker was placed in the right ventricular apex for pacing at 220 beats per minute until cardiac arrest occurred post-balloon inflation, and defibrillation successfully restored spontaneous circulation.Conclusion: This case illustrates that PBAV in uncorrected PA-VSD with severe aortic stenosis and low LVEF is feasible despite its inherent risks when conducted by a skilled team utilizing careful judgment throughout the procedure.

Introduction: Complex congenital heart disease (CHD) patients with atrial arrhythmias have higher rates of morbidity and mortality compared to less complex CHD patients. This study aims to identify echocardiographic predictors of thromboembolism (TE) and major bleeding in patients with Tetralogy of Fallot (ToF) or Pulmonary Atresia with Intact Ventricular Septum (PA-IVS) and atrial fibrillation or flutter (AF). Methods: This cohort study included patients with ToF or PA-IVS who had a diagnosis of AF who underwent a TTE across three sites. Outcomes were incidence rate of major bleeding or TE, calculated using univariable and multivariable cox regression with interaction for anticoagulant choice and fractional area change (FAC). The HAS-BLED score was augmented with major predictors of bleeding, and receiver operator curves compared. Results: We included 300 patients (287 ToF [95.7%], 13 PA-IVS [4.3%]), mean age 45.6 years. Most received warfarin (227 [79.4%]), 40 (13%) used DOACs, and 5 (1.6%) used enoxaparin. TTE predictors of TE included large LVOT diameter ≥3cm (HR 8.92, p=0.002), small LVOT VTI (p=0.014), FAC <30% (HR 7.08, p=0.026) and moderate RV dysfunction (HR 10.75, p=0.026). Predictors of major bleeding included moderate tricuspid regurgitation (HR 2.40, p=0.022), right atrial pressure (1.12, p<0.001), severe RA enlargement (HR 2.30, p=0.048), RV mid diameter (HR 1.06, p=0.005), RV end diastolic area (HR 1.04, p=0.021), RV end systolic area (HR 1.05, p=0.016) elevated RVSP and FAC ≤45% (HR 0.37, p=0.016). Among warfarin users, impaired RV function (FAC ≤45%) was linked to reduced major bleeding events (HR 0.27, p=0.025). There was a nonsignificant trend towards higher bleeding in DOAC users with FAC >45% (HR 3.87, p=0.284), but significantly higher bleeding in DOAC users with FAC ≤45% (HR 12.41, p=0.008) vs. warfarin users with normal RV function (table 1). We developed an augmented HAS-BLED score: the standard score plus one point for moderate-to-severe pulmonic or tricuspid regurgitation and one for FAC ≤45%. This outperformed the standard HAS-BLED in predicting major bleeding (AUC 0.67 augmented vs. 0.57 un-augmented, p=0.008) (figure 1). Conclusion: Echocardiographic evidence of right heart disease is a strong predictor of major bleeding in patients with ToF or PA-IVS. FAC is a useful tool to determine excess major bleeding risk, particularly in DOAC users. Augmenting HAS-BLED with right heart parameters improves diagnostic accuracy.

Introduction: Children undergoing pulmonary artery reconstruction (PAR) surgery for multilevel PA stenosis or pulmonary atresia and major aortopulmonary collaterals (MAPCAs) are at risk for vocal cord immobility (VCI) and related complications. We sought to identify risk factors for and characterize the sequelae of postoperative VCI in this population. Research Questions: We hypothesize that patients undergoing PAR are at risk for VCI, and that VCI is associated with prolonged tube feeding and postoperative hospital stay. Methods: We collected demographic, diagnostic, operative, and early postoperative data from medical records for all patients who underwent unifocalization or PAR surgery between 2017-24. The diagnosis of VCI was ascertained from our programmatic database, and a 1:2 case:control analysis was performed to evaluate risk factors and outcomes. Patients with pre-existing VCI and those who died <20 days after surgery were excluded. Comparison between case and control patients was performed with chi-square analysis, the Wilcoxon rank sum test, and multiple logistic regression. Results: A total of 489 total patients who underwent PAR surgery met all inclusion criteria. The incidence of VCI was 16% (n=80). These 80 cases with confirmed VCI were compared with 160 randomly selected control patients who did not develop VCI. The demographic, diagnostic, and procedural variables analyzed were not significantly associated with VCI (Table 1). Compared to controls, cases with VCI had longer hospital length of stay (median 20 days {interquartile range, IQR 14-34} vs 14 days {IQR 9-24}, p=0.004) and longer ICU length of stay (median 12 days {IQR 7-12} vs 10 days {IQR 6-18}, p = 0.049). Intervention consisting of vocal cord medialization with injection laryngoplasty was performed in 54% of cases with identified VCI. Prior to surgery, 15% of cases were dependent on enteral tube for feeding, compared to 25% of controls. A postoperative swallow study confirmed aspiration in 93% of cases with VCI, who were significantly more likely to be discharged from the hospital with an enteral tube than controls (62% vs 39%, p<0.001). Conclusions: Patients undergoing PAR surgery are at relatively high risk for postoperative VCI, which is associated with prolonged ICU and total hospital length of stay and with the need for enteral feeding at discharge. Parents should be aware of these findings to help set appropriate expectations and plan for postoperative recovery.

Background: Persistent truncus arteriosus (PTA), pulmonary atresia with ventricular septal defect (PA-VSD) and tetralogy of Fallot (ToF) give a developmental spectrum of outflow tract (OFT) defects and share genetic etiologies such as 22q11.2 deletion. We recently identified a frameshift variant of TMEM260 (c.1617del), named “Keio-Tohoku variant (KTv)” as the most frequent single gene variant of PTA in Japanese patients. FLT4 and NOTCH1 have been reported as the first and second frequent gene responsible for ToF. Objective: To explore the genetic background of OFT defects through comprehensive genetic analyses using numbers of patients’ DNA, combined with animal models. Methods: A total of 433 Japanese patients with OFT defects (PTA: n=37; PA-VSD: n=161; ToF: n=235) subjected to genetic testing including G-banding, FISH, and exome sequencing. Mouse models with genetic manipulation of Tmem260 , Flt4 and Notch1 were established and morphologically analyzed. Results: Genetic causes were identified in 211 of 433 cases (49%; PTA 51%, PA-VSD 56%, ToF 43%), including 178 with 22q11.2 deletion. Biallelic TMEM260 KTv were found in 6 (5 in PTA) cases. Interestingly, compound heterozygous for TMEM260 KTv and a ~7kb deletion involving exons 6–7 in TMEM260 were identified in 2 PTA patients (5.4%). This deletion was also enriched in Japanese population (0.17% allele freq.). NOTCH1 and FLT4 variants were found in 12 patients with ToF or PA-VSD. Notably, two PTA cases harbored compound heterozygous variants in both NOTCH1 and FLT4 . Variants in GATA6 (0.7%), GATA4 (0.5%), NKX2-5 (0.2%), and MEF2C (0.2%) were also detected. Initial mouse analyses showed that Tmem260 homozygous KO mice exhibited perinatal lethality and OFT defects while normal phenotype of heterozygous mice. Compound heterozygous Flt4 / Notch1 KO mice had more frequent and severe OFT defects than each single heterozygote. Conclusion: Genetic causes were identified in nearly 50% of our patients with OFT defect. TMEM260 is responsible for PTA with not only homozygous variants, but also compound heterozygous variant/deletion in an autosomal recessive fashion that was confirmed by mouse models. Moreover, our genetic analyses suggest that compound heterozygous variants in NOTCH1 and FLT4 may play a combinatorial contribution to OFT defects that was also supported by the findings from mouse models. This result showed new evidence for oligogenic/multifactorial origin in OFT defects.

Background: In single ventricle (SV) cases with pulmonary stenosis or atresia, where pulmonary blood flow is supplied by major aortopulmonary collateral arteries (MAPCAs), early unifocalization may help establish a low-resistance pulmonary vascular bed. This study aims to describe the postoperative outcomes of patients with SV and MAPCAs who undergo early unifocalization and to identify factors associated with successful completion of total cavopulmonary connection (Fontan procedure). Methods: This is a retrospective cohort study of all patients with SV and MAPCAs who underwent initial unifocalization at a single institution with intention to treat along the single ventricle pathway from 2006 to 2024. The primary outcome of successful SV palliation was defined as survival to discharge following Fontan completion, or superior cavopulmonary connection (Glenn) with encouraging hemodynamic assessment for Fontan completion. Results: The cohort included 43 patients, with median follow up of 5.3 years. Surgical outcomes are depicted in Figure 1, and intracardiac diagnoses in Figure 2. Total anomalous pulmonary venous return (TAPVR) was present in 14 (33%) patients, of whom 5 (36%) had significant obstruction, and heterotaxy syndrome was present in 25 (58%). A dominant right ventricle was present in 29 (68%), a dominant left ventricle in 13 (30%) and an indeterminate ventricle in 1 (2%). Preoperative respiratory support was used in 19 (44%) patients, of whom 4 (9%) were intubated. Of the study cohort, 35 (81%) patients survived unifocalization, 15 (35%) survived Glenn anastomosis, and 10 (23%) survived Fontan completion. Overall, 14 (33%) underwent successful SV palliation. None of the above factors demonstrated a significant association with survival to Glenn, survival to Fontan or successful SV palliation. Of the 5 patients with obstructed TAPVR, none achieved successful SV palliation. Overall mortality was 61% overall (Figure 3A). Mortality in the group with obstructed TAPVR was 40% compared to 67% in the group without pulmonary venous obstruction (p = 0.062, Figure 3B). Conclusion: Patients with SV and MAPCAs represent a high-risk population. Despite early unifocalization at a specialized center, outcomes remain guarded relative to overall SV outcomes, with a subset of patients still being candidates for Glenn and Fontan procedures. Obstructed TAPVR may be associated with worse outcomes in this high-risk group.

Ebstein anomaly (EA) is a congenital heart disease that can cause intrauterine fetal death. Pulmonary valve stenosis or atresia (PS/PA) and retrograde ductus arteriosus flow (RDAF) are important factors leading to a poor prognosis, but the causes of its formation are still unclear. This study aimed to assess the correlation between left and right ventricular function and PS/PA and RDAF in fetuses with EA using MAPSE and TAPSE Z-score values measured by free angle M-mode (FAM) echocardiography. This retrospective cohort study of 34 EA and 68 normal fetuses was enrolled. Differences in Z-score values were compared between the control, EA with and without PS/PA groups, and between EA-PS/PA with and without RDAF group. Correlation analysis was performed between Z-score values with the ratio of inner diameter of the pulmonary to the aortic valve annulus (PA/AO) and RDAF. The differences in Z-score values were significant (p < 0.001) between three groups. Z-score values were lower in EA-PS/PA with RDAF compared to the without RDAF group (p < 0.05). Z-scores were all positively correlated with PA/AO in the EA group (p < 0.05), and negatively correlated with RDAF in the EA-PS/PA group (p < 0.05). Decreased ventricular function of EA fetus is related to the formation of PS/PA. After the formation of PS/PA, the degree of damage to ventricular function is not related to the diameter of the pulmonary artery; it is related to the formation of RDAF.

Cardiac malformations are a major component of heterotaxy syndrome that result in significant mortality and morbidity, especially in patients with right isomerism (RI) and functional single ventricle (FSV). Over the past 20 years, we have adopted a surgical strategy at initial palliation for achieving optimal Fontan haemodynamics. Here, we aimed to evaluate the mortality and morbidity associated with the current surgical strategy and to identify predictive risk factors for mortality. A retrospective review of medical records was performed on 91 consecutive patients with RI and FSV who underwent initial palliation at Mt. Fuji Shizuoka Children's Hospital between 2000 and 2023. The estimated survival rates of the overall cohort at 1 and 10 years were 78.0% and 66.2%, respectively. The completion rate of the Fontan procedure excluding waiting cases was 57.1% (52/84). In multivariable analysis, pulmonary atresia (hazard ratio 5.44 [95% confidence interval, 1.57-22.2]) and the grade of common atrioventricular valve regurgitation before initial palliation (hazard ratio 2.17 [95% confidence interval, 1.07-4.76]) were predictors of mortality. Haemodynamic data from pre-Fontan cardiac catheterization were available for 52 patients. A comparison with a concurrently studied cohort of patients with non-RI and FSV (n = 253) revealed no significant differences in any of the measured haemodynamic variables. Surgical intervention in patients with RI and FSV remains challenging. Findings from the pre-Fontan catheter studies suggest that our current surgical strategy may provide a safe and effective pathway towards Fontan candidacy.

Successful management of complex pulmonary atresia with major aortopulmonary collaterals: A case report

Pulmonary Vasomodulators in Adults with Repaired Pulmonary Atresia with Ventricular Septal Defect: Single-Center Experience and Review of Literature

Objectives: The number of publications on the outcomes of treatment of ductal-dependent pulmonary atresia-ventricular septal defect in developing countries is limited. This study examines the results of surgical repair of this complex congenital heart disease at a high-volume center in Vietnam. Methods: This retrospective study included 144 patients with primary biventricular repair (group p-BVR, n = 70, 48.6%) or staged repair (group SR, n = 74, 51.4%) from April 2014 to March 2023. Concomitant augmentation of individual pulmonary arteries with autologous pericardial patches was performed in most patients who underwent the Rastelli operation (115/120 patients). Results: The overall rates of freedom from right ventricular outflow tract (RVOT) reintervention after the Rastelli operation at 1 year and 6 years were 94% (95% confidence interval [CI], 90%-99%) and 79% (95% CI, 69%-91%), respectively, with a median of 1.9 years (IQR, 0.9-5.0 years) from the Rastelli operation to the first reintervention. Fine and Gray's model for cumulative incidence across groups revealed that being in the p-BVR group was a high-risk factor for RVOT reintervention but not significant relative to being in the SR group (P = .12, SHR = 2.22, 95% CI, 0.82-6.03). The overall survival rate at 6 years was 89% (95% CI, 82%-97%) in the p-BVR group and 76% (95% CI, 66%-87%) in the SR group (P = .048). Conclusions: Concomitant pulmonary arterioplasty may contribute to or be associated with favorable reintervention rates and should be considered in patients with ductal-dependent pulmonary atresia with ventricular septal defect who undergo the primary Rastelli operation.

AimsIn non-congenital heart disease, secondary hyperparathyroidism (sHPT) is associated with an elevated risk of new-onset heart failure (HF) and an increased incidence of HF-related hospitalizations. Yet, for adults with congenital heart disease (ACHD), the role of sHPT and the factors contributing to its development remain poorly understood.Methods and resultsThis cross-sectional, single-centre study assessed the prevalence of sHPT in 754 patients with ACHD. Independent predictors of sHPT were identified in both, within the entire cohort and specifically in ACHD with biventricular physiology.FindingsWe found a high prevalence of sHPT in ACHD at 14.9%, with the highest rates in patients with Eisenmenger syndrome/PAH-CHD (39.1%), Ebstein’s anomaly (29.2%), Fontan palliation (25%), and pulmonary atresia (25%). SHPT was more common in patients with univentricular physiology (29.6%) than biventricular physiology (13.3%) (P < 0.001). In multivariate analysis, glomerular filtration rate (P < 0.001), serum 25-hydroxyvitamin D₃ (P = 0.004), use of loop diuretics (P = 0.001), oxygen saturation (P = 0.03), and liver stiffness (P = 0.033) were independently associated with sHPT. Among patients with biventricular physiology, right ventricular free wall longitudinal strain (P = 0.028)—rather than left ventricular global longitudinal strain—showed a significant association with the presence of sHPT.ConclusionsHPT is observed across the spectrum of ACHD but is more common in patients with complex and more severe disease, particularly those with predominant right heart involvement.

The present study sought to evaluate the intracardiac morphology and associated cardiovascular anomalies in patients with double inlet left ventricle (DILV) on multidetector CT angiography. A retrospective search of the electronic departmental database was conducted from January 2014 to January 2023 to identify patients with a diagnosis of DILV on cardiac CT angiography. Patients with a common atrioventricular valve were excluded. The scans were systematically reviewed in a sequential segmental fashion for evaluating the intracardiac morphology and associated cardiovascular abnormalities. DILV was identified in 97 patients (74 males; mean age: 5.15years). A hypoplastic right ventricular cavity was seen in all patients. The most prevalent ventriculo-arterial configuration was transposition of great arteries seen in 60/97 (61.9%) patients. Concordant ventriculo-arterial connections (Holmes heart) were observed in 17/97 (17.5%) patients while double outlet right ventricle and origin of aorta from right ventricle with pulmonary atresia were seen in 8/97 (8.2%) patients respectively. Aortic arch anomalies were seen in 11/97 (11.3%) patients. Type A interrupted aortic arch was present in 1 (1%) patient, and 2 (2.1%) patients had aortic stenosis. Some form of pulmonary outflow obstruction was seen in 45/97 (46.4%). Pulmonary atresia was observed in 11/97 (11.3%) patients out of which 1 had non-confluent pulmonary arteries. Pulmonary venous anomalies were observed in 4/97 (4.1%) patients. A single coronary artery was seen in 6/97 (6.2%) patients. DILV is a congenital heart disease with functionally single ventricle and is associated with a wide variety of cardiovascular anomalies, most commonly transposition of great arteries and pulmonary outflow tract obstruction. Multidetector CT angiography is an excellent modality for detailed intracardiac anatomical evaluation and depiction of associated cardiovascular anomalies which may aid in deciding the surgical approach.

Genetic aspects of congenital heart disease in heterotaxy syndrome.