ABSTRACT
Objectives:
To assess the surgical outcomes of atrioventricular septal defect associated with Tetralogy of Fallot (AVSD)-TOF repair performed at 2 specialized cardiac centers.
Methods:
From May 2012 to December 2024, 20 patients diagnosed with AVSD-TOF who underwent surgical repair were included.
Results:
The median age at the time of surgical repair was 13 months, with a median weight of 8.2 kg (IQR: 6.2–11.5 kg). Biventricular repair was successfully performed in 18 patients (90%), while one and half ventricular repair was required in 2 patients (10%). Before definitive repair, palliative procedures, including bidirectional Glenn shunts, were carried out in 2 patients (10%), and right ventricular outflow tract (RVOT) stenting in another 2 patients (10%). Postoperative complications included a third-degree heart block requiring pacemaker implantation in 10% and chylothorax in 15%. The median duration of chest drains was 10 days. In 40% of patients, reintervention was required, involving catheter-based procedures and redo surgeries for residual lesions. Despite these complexities, overall survival was 90%, with all patients surviving to hospital discharge.
Conclusion:
Biventricular repair of AVSD-TOF is feasible and offers favorable early survival. However, the complexity of the condition, frequent reinterventions, and residual lesions highlight the need for individualized surgical/interventional planning and long-term follow-up.
Keywords: Atrioventricular septal defect, Tetralogy of Fallot, Outcome, Multidisciplinary Care, Pediatrics
Atrioventricular septal defect associated with Tetralogy of Fallot (AVSD-TOF) or double outlet right ventricle (DORV) with subpulmonic obstruction (Sub PS) is a complex and rare congenital cardiac anomaly. AVSD-TOF is more frequently associated with trisomy 21, commonly associated with other noncardiac comorbidities.1,2 The type of surgical procedures for these patients varies between patients and surgeons. Some surgeons prefer the univentricular pathways, while others avoid univentricular palliation because of the unfavorable long-term outcome, especially in trisomy 21 patients. Biventricular repair of AVSD-TOF may be primary/one-stage repair or after initial palliation in the form of right ventricular outflow tract (RVOT) stenting or ductal stenting through cardiac catheterization or in the form of systemic to pulmonary shunt (2-stage repair). Whenever feasible, it is advisable to go with the primary total repair of AVSD-TOF, as palliative treatment options may lead to increased ventricular volume loading and a worsening of common atrioventricular valvular regurgitation (CAVVR) and/or distortion of pulmonary arteries as in cases with systemic to pulmonary artery shunts.3–6
Complete surgical repair may not always be achieved owing to the lesion’s complexity and concomitant cardiac defects that hinder the biventricular repair, e.g., severely hypertrophied right ventricle (RV) with a small cavity, smaller outlet portion of the ventricular septal defect and the far distance between the aorta and the outlet portion of the VSD that may predispose for left ventricular outflow tract obstruction, especially in cases have AVSD-DORV-Sub PS. There is debate about the optimal surgical technique for patients with AVSD-TOF/DORV-Sub PS, including the timing of total repair and the initial use of palliation.1,2,7–9 In our centers, primary biventricular repair is the preferred option for these patients whenever possible. This cohort study aimed to examine the outcomes of surgical repair performed on patients diagnosed with AVSD-TOF in 2 cardiac centers.
Methods
This retrospective study was conducted with ethics committee approval, and informed consent for data use was obtained from legal guardians. Patients with AVSD-TOF who underwent biventricular repair or one and half ventricle repair were included in the study. Preoperative, operative, postoperative, echocardiographic, catheterization, and outcome data were collected.
Surgical techniques for AVSD-TOF
Patients were positioned supine, and following standard sterile preparation and draping, a median sternotomy was performed to access the thoracic cavity. The thymus was excised to improve exposure, and the pericardium was opened and tacked to optimize visualization of the cardiac structures. Cardiopulmonary bypass (CPB) was initiated after aortic and bicaval cannulation, ensuring adequate venous drainage. A patent ductus arteriosus (PDA) was identified and ligated upon full bypass.
The right atrium was opened to access intracardiac structures. The RVOT obstruction was relieved via muscular resection. In certain cases, RV-to-main pulmonary artery (MPA) conduits were employed. To address pulmonary stenosis, the MPA was incised in select patients, with the incision extending into the sinuses of the pulmonic valve and distally into the branch pulmonary arteries near the hilum.
A two-patch repair technique was utilized to close the AVSD. The left atrioventricular valve (AVV) cleft was meticulously sutured, and a posterior annuloplasty was performed to reinforce the structural integrity of the valve. Similarly, cleft repair of the right AVV was undertaken to ensure optimal valve function. The RVOT was augmented using a bovine pericardial patch to enlarge the outflow tract and enhance hemodynamic flow. A transannular patch was employed in cases with a small annular diameter, incorporating a bicuspid/monocuspid pulmonary valve fashioned from equine pericardium to minimize postoperative pulmonary insufficiency.
In certain cases, a 5-mm atrial septal defect (ASD) was intentionally left in the ASD patch to facilitate interatrial flow, often critical for decompressing the right side and optimizing postoperative hemodynamics in these complex repairs. The procedure concluded with the closure of the right atrium, then careful weaning of the patient from CPB. Protamine was then given, and the cannulae were removed.
Two chest drains were placed for postoperative drainage, and temporary atrial and ventricular pacing wires were inserted. Delayed sternal closure was employed in cases of significant postoperative edema or hemodynamic instability.
Statistical analysis
The statistical analysis used IBM SPSS Statistics for Windows, version 26.0 (IBM Corp., Armonk, NY, USA) and Jamovi software (2021). (Version 2.6.2). We displayed our non-normally distributed numerical data as a median and interquartile range (25th to 75th percentile). Nominal variables were presented as numbers and percentages. Kaplan-Meier survival analysis was used to analyze survival after surgical correction.
Results
Clinical features and preoperative data
Between May 2012 and December 2024, 20 patients who underwent biventricular repair or one and half ventricle repair (Glenn shunt+surgical repair) for AVSD-TOF were recruited. The median age at repair was 13 months (interquartile range [IQR], 6.25-44.25 months), and the median weight was 8.2 kg (IQR, 6.2-11.5 kg). Most (85%) had trisomy 21, while 15% were non-syndromic. Primary palliation was performed in 20% of patients, with 10% undergoing Glenn procedures (due to small RV size, then later performing one and half ventricle repair) and 10% receiving RVOT stenting. The median preoperative oxygen saturation was 80% (IQR, 77-86%) as shown in Table 1.
Table 1.
- Clinical features and preoperative data of studied patients. N=20
| Parameters | n (%) |
|---|---|
| Demographic data | |
| Age at repair, months | 13 (6.25-44.25) |
| Weight at repair, kg | 8.2 (6.2-11.5) |
| Dysmorphic features | |
| Non-syndromic | 3 (15) |
| Trisomy 21 | 17 (85) |
| Primary palliation | |
| Glenn | 2 (10) |
| RVOT stent | 2 (10) |
| No primary palliation | 16(80) |
| Age at primary palliation, months | 9 (2.75-13) |
| Preoperative oxygen saturation | 80 (77-86) |
| Echocardiographic data | |
| Atrioventricular valve regurgitation | |
| No | 4 (20) |
| Mild | 16 (80) |
| PG across RVOT, mmHg | 61 (57-78) |
| Pulmonary annulus diameter, mm | 6 (5-8.25) |
| Pulmonary annulus Z score | -4(-6 - -3) |
| RPA diameter, mm | 5 (3.8-7) |
| RPA z-score | -1.74(-3.74- -0.9) |
| LPA diameter, mm | 5 (3.95-6.35) |
| LPA z-score | -1.15(-3.16- -0.7) |
| Preoperative cardiac catheterization and CT angiography | |
| Preoperative diagnostic catheterization | 6 (30) |
| Preoperative CT angiography | 2 (10) |
| Presence of MAPCA based on CT or cardiac catheterization, n (%) | |
| No or non-significant and tiny | 7 (87.5) * |
| One significant/ closure | 1 (12.5) * |
CT: computed tomography; MAPCA: major aortopulmonary collateral arteries; LPA: left pulmonary artery; RPA: right pulmonary artery; RVOT: right ventricle outflow tract.
Percentage of patients who underwent cardiac catheterization or CT scan
Preoperative echocardiography showed mild atrioventricular valve regurgitation in 80% of patients, with no regurgitation in 20%. Pulmonary diameters were recorded with median measurements of 6 mm (IQR, 5-8.25 mm) for the pulmonary annulus, 5 mm (IQR, 3.8-7 mm) for the right pulmonary artery (RPA), and 5 mm (IQR, 3.95-6.35 mm) for the left pulmonary artery (LPA). Preoperative diagnostic catheterization was performed in 30% of patients, and computed tomography (CT) angiography in 10%. Major aortopulmonary collateral arteries (MAPCAs) were absent or non-significant in 90% of cases that underwent diagnostic cardiac catheterization or cardiac CT. Table 1 illustrates the preoperative data of the studied patients
Operative data
The median aortic cross-clamping time was 116 minutes (IQR, 105-133 minutes), and the median bypass time was 150 minutes (IQR, 116.5-159.5 minutes). Additional procedures included the creation of an ASD (55%), transannular patching (35%), creation of pulmonary cusps (20%), pulmonary artery plasty (15%), and RV-PA conduit placement (10%) as shown in Table 2.
Table 2.
- Operative data of studied patients. N=20
| Parameters | n (%) |
|---|---|
| Aortic cross-clamping time, minutes | 116 (105-133) |
| Bypass time, minutes | 150 (116.5-159.5 |
| Creation of ASD, n (%) | 11 (55) |
| Transannular patch, n (%) | 7 (35) |
| Creation of pulmonary cusps | 4(20) |
| PA plasty, n (%) | 3 (15) |
| RV-PA conduit, n (%) | 2 (10) |
ASD: atrial septal defect, PA: pulmonary artery, RV: right ventricle
Postoperative data
Postoperative outcomes included the use of ECMO in 10% of patients, and junctional ectopic tachycardia (JET) occurred in 25%, with 10% requiring amiodarone. The median chest tube duration was 10 days (IQR, 4.75-21 days). Complete heart block necessitating permanent pacemaker implantation occurred in 10% of patients, while no cases of postoperative phrenic nerve palsy were reported. Chylothorax developed in 15% of patients.
Postoperative echocardiography revealed no or trivial atrioventricular valve regurgitation in 40% of patients, mild regurgitation in 45%, moderate in 10%, and severe in 5%. Residual ventricular septal defects (VSDs) were observed in 40% of patients, all at the patch site, with 30% being small and 10% moderate. Atrioventricular valve stenosis was noted in 15% of patients (5% moderate, 10% mild). Pulmonary insufficiency was mild in 55%, moderate in 15%, and severe in 15% of patients. Pulmonary stenosis was mild in 40% and moderate in 10%, with specific stenosis of the LPA in 15% and RPA in 10%. Table 3 represents the postoperative data of the studied patients.
Table 3.
- Postoperative data of studied patients. N=20
| Parameters | n (%) | Notes |
|---|---|---|
| ECMO use | 2 (10) | |
| Postoperative JET | 5 (25) | |
| Amiodarone use for JET | 2 (10) | |
| Chest tube duration, days | 10 (4.75-21) | |
| Postoperative CHB +PPM | 2 (10) | |
| Postoperative phrenic palsy | 0 | |
| Postoperative chylothorax | 3 (15) | |
| Postoperative AVVR | ||
| No/trivial | 8 (40) | |
| Mild | 9(45) | |
| Moderate | 2 (10) | |
| Severe | 1 (5) | |
| Postoperative residual VSD | ||
| No residual VSD | 12(60) | |
| At patch | 8 (40) | 6 small, 2 moderate sizes |
| Postoperative AVV stenosis | ||
| Moderate | 1 (5) | |
| Mild | 2 (10) | |
| Postoperative PI | ||
| Mild | 14 (70) | |
| Moderate | 3(15) | |
| Severe | 3(15) | |
| Postoperative PS | ||
| Mild | 8(40) | |
| Moderate | 2 (10) | |
| PA stenosis | ||
| Mild LPA stenosis | 3 (15) | |
| Mild RPA stenosis | 1 (5) | |
| Moderate RPA stenosis | 1 (5) | |
AVVR: atrioventricular valve regurgitation, CHB: complete heart block, ECMO: extracorporeal membrane oxygenation, JET: junctional ectopic tachycardia, ICU: intensive care unit, LPA: left pulmonary artery, PI: pulmonary insufficiency, PS: pulmonary stenosis, PPM: permanent pacemaker, RPA: right pulmonary artery, VSD: ventricular septal defect
Postoperative interventions and outcomes
Postoperative interventions were required in 40% of patients, including catheter-based procedures such as VSD device closure (5%), MAPCA closure (15%), and pulmonary balloon valvoplasty (10%). Subsequent interventions included pulmonary valve implantation (5%) and redo surgeries for VSD patch redo, pulmonic valve reconstruction, and left AVV repair. The median duration of mechanical ventilation was 5 days (IQR, 1.75-13 days), with ICU stays averaging 16 days (IQR, 5-23 days) and overall hospital stays of 22 days (IQR, 10-41 days) as shown in Table 4. Survival to discharge was 100%, and overall survival was 90% (Figure 1).
Table 4.
- Outcome data. N=20
| Parameters | n (%) |
|---|---|
| Postoperative intervention (Cath/surgery), n (%) | 8 (40) |
| First catheter intervention, n (%) | 5 (25) |
| VSD device | 1 (5) |
| MAPCA closure | 3 (15) |
| Pulmonary balloon valvoplasty | 2 (10) |
| Second catheter intervention, n (%) | |
| PV implantation | 1 (5) |
| VSD device closure | 1 (5) |
| First redo surgery, n (%) | |
| VSD patch redo, Pulmonary valve reconstruction | 1 (5) |
| Left AV valve repair/ RVOTO resection | 1 (5) |
| Left AV valve repair | 1 (5) |
| Second redo surgery, n (%) | |
| Left AV valve repair | 1 (5) |
| Mechanical ventilation duration, days | 5 (1.75-13) |
| ICU stay, days | 16 (5-23) |
| Hospital stay, days | 22 (10-41) |
| Survival, n (%) | 18 (90) |
AV: atrioventricular valve, ICU: intensive care unit, MAPCA: major aortopulmonary collateral arteries, RVOT: right ventricle outflow tract, VSD: ventricular septal defect
Figure 1.
- Shows the Kaplan-Meier survival analysis of the studied patients.
Discussion
Syndromes associated with AVSD-TOF
AVSD-TOF is common among patients with trisomy 21; in this report, 85% of patients had Down syndrome, and similar reports have published similar results.1,10
Palliative procedures in AVSD-TOF patients
In this study, two patients initially underwent a palliative procedure, RVOT stenting. The RVOT stenting is a well-established palliative intervention for patients with TOF who present with severe RVOT obstruction and severe cyanosis. This procedure enhances oxygen saturation by increasing pulmonary flow and promoting pulmonary arterial growth without the distortion commonly associated with Blalock-Taussig-Thomas (BTT) shunts.4–6
Additionally, 2 other patients underwent palliative Glenn surgery due to severe RV hypertrophy and relative right ventricular hypoplasia. Glenn surgery is beneficial for TOF patients with RV hypoplasia, as it improves oxygen saturation and can serve as a bridge to corrective surgery, either through biventricular repair or a one and half ventricle repair (Glenn + surgical repair) in cases where the RV cavity remains small.11,12 This approach was documented in 2 patients in our cohort who underwent Glenn shunt as an initial palliation.
Postoperative complications following AVSD-TOF repair
Following surgical repair of AVSD-TOF, some patients may continue to exhibit heart failure symptoms, primarily due to increased pulmonary blood flow or left atrioventricular valve dysfunction. Heart failure is particularly observed in cases with large major aortopulmonary collateral arteries (MAPCAs) or residuals of hemodynamically significant ventricular septal defects (VSDs). Additionally, significant left atrioventricular valve regurgitation (AVVR) may also contribute to the persistence of heart failure symptoms.7,13–15
Management of MAPCAs
Significant MAPCAs should ideally be occluded during preoperative cardiac catheterization to reduce excessive pulmonary blood flow after repair. However, this intervention may result in a sudden drop in oxygen saturation, necessitating immediate surgical correction following catheterization. Some interventionists recommend delayed closure of MAPCAs postoperatively, particularly when oxygen saturation remains low and immediate surgery is not feasible.13,15
Residual VSDs post AVSD-TOF repair
Residual VSDs are common after AVSD-TOF repair, and those of hemodynamic significance with a substantial left-to-right shunt often require further intervention. A Qp/Qs >1.5 is generally an indication of VSD closure. Management options include redo surgery in cases with large residual VSDs and percutaneous closure, which is feasible when the VSD is located at the surgical patch site and is of small to moderate size. Due to its low-profile design, the Amplatzer Duct Occluder II (ADO II) is preferred for percutaneous closure, particularly for small to moderate-sized VSDs related to surgical patches. Postoperative percutaneous closure of residual VSDs at the surgical patch site has demonstrated favorable short-term and mid-term outcomes.14,16 Although the Technical Performance Score is not routinely utilized in our centers, it is valuable for assessing surgical outcomes. Its application in low-resource settings was recently validated and could serve as a benchmark for future evaluations.17
Atrioventricular valve regurgitation after AVSD-TOF repair
The AVVR is one of the causes of reoperation following AVSD-TOF repair. In this study, two patients required redo surgeries for severe AVVR. One patient required a second redo surgery due to persistent severe regurgitation, underscoring the clinical significance of AVVR in determining long-term surgical outcomes.7,18
RV-MPA conduit in cases with AVSD-TOF
The RV-MPA conduit may be a viable surgical option in certain cases of TOF, particularly when aberrant coronary arteries traverse the RVOT.19 This approach is supported by documented evidence from two patients within this cohort.
Pulmonary insufficiency after TOF repair
Pulmonary regurgitation is one of the most common complications following TOF repair, particularly in patients with a transannular patch. Post-surgical pulmonary insufficiency is initially well tolerated due to the restrictive physiology of the hypertrophied RV. Over time, as RV compliance improves, the regurgitant volume increases, leading to progressive RV dilatation and eventual RV failure.20
Percutaneous pulmonary valve implantation (PPVI) has recently been an alternative to traditional redo surgery for pulmonic valve replacement. This procedure provides an effective solution for managing pulmonary regurgitation while avoiding the morbidity associated with CPB surgery. The criteria for PPVI are well established, allowing for appropriate patient selection and improved clinical outcomes.21,22
Postoperative outcomes
Postoperative complete heart block (CHB) is more frequently observed in patients with AVSD-TOF compared to those with isolated TOF. This increased incidence is primarily attributed to the anatomical course of the His bundle, which runs close to the crest of the ventricular septum, making it particularly susceptible to injury during surgical repair.23 In this cohort, CHB occurred in 10% of patients, necessitating permanent pacemaker implantation.
In this cohort, the median duration of chest tube drainage was 10 days. Prolonged and high-volume chest drainage is commonly observed in patients with restrictive RV physiology, as seen in this study, or in those who have undergone Glenn procedures. The creation or persistence of an atrial septal defect (ASD) during surgical repair can facilitate RV decompression and potentially improve chest tube drainage. However, this approach may be associated with some degree of desaturation. In this cohort, 55% of patients had an intentional ASD during surgical repair.24
The survival rate until hospital discharge in this cohort was 100%. However, 2 patients died at a later stage. One case was due to infective endocarditis, while another patient, who had undergone repair at 15 years of age, presented to the emergency department two weeks after discharge with cardiac arrest and fixed, dilated pupils. This case was suspected to be due to ventricular dysrhythmia, as the risk of arrhythmic events is higher with ventriculotomy or repair at an older age.25
Existing literature indicates that patients undergoing AVSD-TOF repair often require postoperative catheter interventions or redo surgeries to address residual hemodynamically significant lesions. The outcomes observed in this cohort are consistent with previously published studies.2,6,7
Limitations of the study
This cohort has limitations. As a retrospective analysis, it is subject to biases related to missing or incomplete data, which may affect the accuracy of findings. Additionally, the small sample size of 20 patients restricts the generalizability of the results. The study is confined to 2 cardiac centers, limiting its applicability to broader populations with different surgical practices. Variability in surgical techniques, including the choice between primary repair and staged procedures, introduces heterogeneity that may impact outcome comparisons. Furthermore, long-term follow-up data are limited, making assessing late complications and functional outcomes challenging beyond the mid-term period. Future multicenter studies with more patients and a longer follow-up are important to validate these findings and refine treatment strategies.
Conclusion
This study highlights the surgical outcomes of AVSD-TOF repair in a cohort of 20 patients, demonstrating the feasibility and benefits of biventricular repair when possible. The presence of trisomy 21 was a common factor, and postoperative complications such as residual VSDs, arrhythmias, and pulmonary insufficiency required ongoing management. Despite these challenges, overall survival was favorable, with a 90% survival rate. The findings support a tailored surgical approach that considers individual anatomical and physiological factors to optimize outcomes. Expanded multicenter research involving larger patient populations and prolonged follow-up periods is essential to optimize therapeutic approaches and enhance patient outcomes.
Footnotes
References
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