Urgent sutureless repair of supracardiac total anomalous pulmonary venous return coexisting with Ebstein’s anomaly in a female neonate: a rare case report

Introduction

Total anomalous pulmonary venous return (TAPVR) is a rare congenital cardiac malformation in which all pulmonary veins drain into the systemic venous circulation rather than the left atrium, necessitating an interatrial communication for survival. Among its subtypes, supracardiac TAPVR is the most common, comprising approximately 45–55% of cases (1). Ebstein’s anomaly, a rare congenital defect of the tricuspid valve characterized by apical displacement of the septal and posterior leaflets, is associated with tricuspid regurgitation, right atrial enlargement, and variable right ventricular (RV) dysfunction (2). The coexistence of supracardiac TAPVR and Ebstein’s anomaly is exceptionally rare, with only a few cases reported worldwide (Table 1). To our knowledge, this represents the first reported neonatal case requiring early surgical intervention.

Our patient required early neonatal surgery due to progressive hypoxemia, unlike previously reported cases. This combination presents a unique physiologic challenge, which may be conceptualized as a “hemodynamic clash”. In TAPVR, pulmonary venous return is redirected to the right heart, resulting in increased right atrial and ventricular volume load and reliance on a compliant right ventricle to accommodate excess flow. In contrast, Ebstein’s anomaly inherently limits RV compliance and functional capacity due to apical displacement of the tricuspid valve and dysplastic leaflets. Together, these lesions create a mismatch between the increased volume load imposed by TAPVR and the compromised ability of the right ventricle to handle it, precipitating early hypoxemia and hemodynamic instability.

This case highlights the importance of early recognition, individualized surgical planning, and a multidisciplinary approach in managing neonates with complex congenital heart disease. We present this article in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-300/rc).

Case presentation

A full-term female infant (39 weeks and 2 days) was born via spontaneous vaginal delivery without complications. The pregnancy was uncomplicated, and the mother had no history of lithium or other teratogenic exposures known to increase the risk of congenital heart defects, including Ebstein’s anomaly. A fetal echocardiogram was performed and suggested a congenital heart defect; however, no further evaluation was pursued due to limitations in medical access. At birth, the 3.3 kg infant had Apgar scores of 7 and 8 at 1 and 5 minutes, respectively. However, her oxygen saturation dropped to less than 85% even after giving oxygen. She was subsequently transferred to the special care nursery for further evaluation. Her vital signs revealed a heart rate of 166 beats per minute, oxygen saturation of 77% on room air, and a respiratory rate of 40 breaths per minute. An echocardiogram was performed, which revealed supracardiac TAPVR, with all pulmonary veins draining via a confluence into a vertical vein and the innominate vein. Additional findings included a large secundum atrial septal defect (ASD, 7 mm), a patent ductus arteriosus (PDA), Ebstein’s anomaly of the tricuspid valve with significant septal leaflet displacement and dysplastic valve but no significant regurgitation, and mild to moderate RV hypoplasia (Figure 1). The infant was stabilized on continuous positive airway pressure (CPAP) and transferred emergently to our hospital. Chest computed tomography revealed a supracardiac type TAPVR (Figure 2).

Figure 1 Preoperative transthoracic echocardiogram. 2D, two-dimensional echocardiography; ASD, atrial septal defect; CF, color Doppler; TV, displaced dysplastic tricuspid valve.

Figure 2 Preoperative chest CT. CT, computed tomography; LLPV, left lower pulmonary vein; RLPV, right lower pulmonary vein.

Due to persistent hypoxemia with oxygen saturations below 85% despite oxygen therapy and signs of worsening pulmonary venous congestion, the decision was made to proceed with urgent surgical repair on day 2 of life. We used a sutureless technique, with anastomosis of the pulmonary venous confluence to the left atrium, partial ASD closure with a 3 mm fenestrated polytetrafluoroethylene patch, and PDA ligation. Intermittent circulatory arrest with systemic cooling (25 °C) was used. Due to hemodynamic instability, the chest was left open for 3 days. She received inhaled nitric oxide for 4 days and was extubated on day 6. She was discharged on day 14 with 95% saturation (Table 2).

At 6-month follow-up, echocardiography continued to show no pulmonary vein stenosis, trace tricuspid regurgitation, and stable left-to-right shunting across the fenestrated ASD, indicating a successful early postoperative course. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient’s guardian for publication of this case report and accompany images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

The coexistence of supracardiac TAPVR and Ebstein’s anomaly is extremely rare. To date, only one case in an adult and one case in a 5-year-old child have been documented (2,3). Our patient required early neonatal surgery due to progressive hypoxemia and clinical decompensation. Neonates with Ebstein’s anomaly are particularly vulnerable to early deterioration because limited RV compliance and elevated pulmonary vascular resistance can rapidly overwhelm compensatory mechanisms, even in the absence of severe tricuspid regurgitation (4). In previously reported cases, unobstructed pulmonary venous return, mild tricuspid regurgitation, and balanced interatrial shunting likely permitted adequate hemodynamic compensation and survival into later childhood or adulthood. In contrast, in our neonate, the combination of TAPVR-related pulmonary venous inefficiency, elevated neonatal pulmonary vascular resistance, and restricted RV compliance resulted in early hypoxemia, necessitating urgent surgical intervention.

In cyanotic neonates, differential diagnoses include pulmonary atresia, severe persistent pulmonary hypertension of the newborn, and respiratory distress syndrome. In our patient, echocardiography promptly clarified the underlying cardiac anatomy, confirming supracardiac TAPVR with a large secundum ASD, a PDA, and Ebstein’s anomaly (Figures 1,2). The echocardiogram demonstrated marked apical displacement of the septal tricuspid leaflet (displacement index 58.5 mm/m²), consistent with significant anatomic abnormality; however, only trace tricuspid regurgitation was present. Despite the severe leaflet displacement, the calculated Glasgow Outcome Scale-Extended (GOSE) score was low at 0.44 (2.99/6.7), indicating limited functional severity. This apparent discordance reflects effective atrial-level decompression through the large ASD, low RV systolic pressures, and limited RV compliance, which together minimize right-sided chamber dilation and tricuspid regurgitation.

The simultaneous presence of both defects presents a unique diagnostic and therapeutic challenge due to the complex hemodynamic interplay between the two conditions. While interatrial shunting may temporarily preserve cardiac output and oxygenation, this compensatory mechanism is limited, and the combined defects exacerbate right heart volume overload, predisposing to progressive hypoxemia and RV failure. Although the presence of ASD allows adequate mixing and transient stabilization, definitive surgical correction is required urgently in the neonatal period.

Surgical management was carefully tailored to address these physiologic complexities. A sutureless technique was employed for TAPVR repair to minimize manipulation of the pulmonary veins and reduce the risk of postoperative pulmonary vein stenosis, particularly given the small and friable neonatal pulmonary venous confluence. Meta-analyses comparing sutureless and conventional TAPVR repair have demonstrated lower rates of postoperative pulmonary venous obstruction and reoperation, with some series suggesting an early mortality benefit in high-risk neonates, supporting its use in this setting (5). Although the TAPVR repair followed established principles, the overall surgical strategy was individualized to account for the coexisting Ebstein’s anomaly.

To facilitate RV decompression and mitigate the risk of acute RV failure, a fenestrated ASD was intentionally created rather than fully closed. This fenestration served as a controlled “pop-off” mechanism for the noncompliant RV, permitting right-to-left atrial shunting in the immediate postoperative period and preserving the option for future transcatheter intervention should pulmonary vein stenosis develop. In addition, delayed chest closure was employed as a proactive strategy to manage the risk of RV failure in the setting of elevated pulmonary vascular resistance and uncertain ventricular compliance. Inhaled nitric oxide was administered postoperatively to reduce pulmonary vascular resistance and support RV function.

Given the absence of significant tricuspid regurgitation, arrhythmias, or circular shunt physiology, tricuspid valve intervention was deferred in accordance with contemporary neonatal management principles for Ebstein’s anomaly (6). Addressing the dominant defect while minimizing RV manipulation allowed stabilization of hemodynamics and preserved the option for delayed tricuspid valve repair if clinically indicated.

The favorable early postoperative course, characterized by stable hemodynamics, preserved RV function, and absence of significant tricuspid regurgitation or arrhythmias, suggests effective surgical planning and execution. While isolated Ebstein’s anomaly or TAPVR may be managed electively depending on severity, their coexistence in a neonate typically mandates early surgical intervention, as compensatory mechanisms are insufficient to sustain oxygenation and cardiac output. Careful physiologic assessment, individualized surgical strategies, and close long-term surveillance are essential to achieving favorable outcomes in this rare and complex clinical scenario.

Conclusions

This case illustrates the successful diagnosis and physiologically guided surgical management of a neonate with the rare combination of supracardiac TAPVR and Ebstein’s anomaly. By tailoring intervention to relieve pulmonary venous obstruction while preserving RV decompression, the surgical strategy addressed the unique hemodynamic challenges of this dual pathology. Early recognition and prompt, carefully coordinated management were pivotal in achieving a favorable outcome. Continued reporting of such rare congenital cardiac combinations is essential to refine physiologically guided approaches, optimize early outcomes, and advance understanding of complex congenital heart disease.

Acknowledgments

None.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-300/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-2025-300/prf

Funding: None.

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-2025-300/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient’s guardian for publication of this case report and accompany images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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