Coronary artery compression by dilated pulmonary artery in an early infantile case of tetralogy of Fallot with absent pulmonary valve: ventricular fibrillation as the initial symptom of myocardial ischaemia.

Coronary artery compression by a dilated pulmonary artery is a rare complication in patients with tetralogy of Fallot with absent pulmonary valve. We present a case in which this condition manifested at two months of age, with ventricular fibrillation as the initial symptom of myocardial ischaemia. It is important to recognise that this potentially fatal complication can occur in early infancy.

What is pentalogy of Cantrell?

We present the unusual case of an 8-month-old female with tetralogy of Fallot, coarctation of aorta, and complete presentation of pentalogy of Cantrell. A meta-analysis of 236 cases of Cantrell's syndrome reported in the literature was performed to compare intracardiac findings.

Role of BT shunt in tetralogy of Fallot.

INTRODUCTION: Modified Blalock-Taussig shunt (BT shunt) is a palliative operation used for cyanotic heart diseases with decreased pulmonary blood supply. The definitive management of tetralogy of Fallot (TOF) is total corrective surgery, but these patients can be palliated with BT shunt. In the modern world, the BT shunt is getting out of favour in patients with TOF. In this article, we will share our 5-year experience at our institute, which also shows a decreasing trend. PATIENTS AND METHODS: It is a retrospective study. Files of all the patients admitted in our department from January 2019 to December 2023 were reviewed. Age, weight, hospital stay, inotropic support duration, mechanical ventilation duration, and outcomes were studied. RESULTS: From January 2019 to December 2023, 173 patients underwent BT shunt for TOF. The mean age was 31 months, and the mean weight was 9.3 kg. The overall mortality for BT shunt was 15% after BT shunt. Hypercyanotic spell not controlled by medical management was the most common indication for BT shunt in our setup. Most of the patients with hypercyanotic spells were also candidates for total correction but due to the emergency, BT shunt was performed. CONCLUSION: The role of BT shunt in patients with TOF is decreasing due to PDA/RVOT stenting, it is likely that the BT shunt in TOF will become a thing of the past in the future even in developing countries like ours.

Tetralogy of Fallot With Absent Pulmonary Valve Syndrome: The Experience of a Tertiary Care Center in a Developing Country.

BACKGROUND: Tetralogy of Fallot with an absent pulmonary valve is a very rare variant of tetralogy. It is characterized by absent valve tissue, severe pulmonary regurgitation, and secondary aneurysmal dilatation of the pulmonary arteries. AIM: In this study, we aim to investigate the clinical presentations, management strategies, and outcomes of patients with tetralogy of Fallot and absent pulmonary valve. METHODOLOGY: We retrospectively reviewed the charts of all patients who presented to the American University of Beirut Medical Center between January 2010 and December 2020 and who were diagnosed with this anomaly. RESULTS: A total of 300 cases of tetralogy of Fallot were identified, of which 18 patients had absent pulmonary valves. They were followed up for an average of 8.2 years. Prenatal diagnoses were made in four patients, while 13 patients were identified in the neonatal period, with an average age of 4.5 days. Genetic testing confirmed DiGeorge syndrome in one patient. Five patients underwent surgical intervention in the neonatal period, while the remaining patients were operated on during their early childhood. While overall there were no surgical mortalities nor any need for reinterventions, a variety of morbidities were encountered. CONCLUSION: This study provides an overview of this rare anomaly and its management in a developing country.

Burden of Reintervention after Tetralogy of Fallot Repair: A joint pediatric and adult congenital experience over 30 years.

OBJECTIVE: There is a high burden of reintervention after repair of Tetralogy of Fallot (TOF). We compare procedural burden and late outcomes in valve sparing repair (VSR) and transannular patch (TAP) cohorts over 30 years. METHODS: Patients undergoing TOF repair (1990-2021, excluding complex TOF) were included in this study (n=1239) with subsequent comparisons between TAP (n=550) and VSR (n=648) cohorts. Descriptive statistics, cumulative incidence frequencies, survival analysis and propensity matching (n=425) were used to analyze reintervention burden and survival. RESULTS: Overall survival of the cohort was 96.7% at 15 years and 95.6% at 25 years, with similar survival between TAP and VSR cohorts (p=0.22). TAP cohort had increased incidence of procedural burden at 25 years (TAP 69.8% versus VSR 37.2%, p<0.001), with 34.6% undergoing ≥2 reinterventions. TAP cohort had higher incidence of surgical PV replacement at 15 years (TAP 20.7% versus VSR 7.6%, p<0.001) and placement of PA stents (TAP 20.2% versus VSR 4.9%, p<0.001). By contrast, VSR had higher incidence of RVOT reoperation at 15 years (VSR 7.3% versus TAP 3.6%, p=0.047). After propensity matching there was no survival advantage between the VSR and TAP cohorts (Era 2) whereas the need for RVOT reoperation was not different between the two cohorts (p=0.060). CONCLUSIONS: The procedural burden remains high following TOF repair. TAP is associated with higher procedural burden in matched and non-matched cohorts. VSR has increased risk of reoperation for RVOT obstruction only in non-matched comparisons. Anatomical complexity and surgical repair strategy influence procedural burden following TOF repair.

Left Coronary Artery Compression and Stent Fracture Following Self-Expanding Transcatheter Pulmonary Valve Implantation.

Coronary compression and vascular perforation have not been reported for self-expanding transcatheter pulmonary valves. We describe a patient with tetralogy of Fallot after self-expanding valve implantation who developed left coronary artery compression from the valve. In addition, a wire frame fracture resulted in perforation of the aorta.

Inhibition of the FOXO1-ROCK1 axis mitigates cardiomyocyte injury under chronic hypoxia in Tetralogy of Fallot by maintaining mitochondrial quality control.

INTRODUCTION: Persistent chronic myocardial hypoxia causes disturbances in mitochondrial quality control (MQC), ultimately leading to increased cardiomyocyte injury in patients with Tetralogy of Fallot (TOF). The present study aimed to identify the key effector molecules of cardiomyocyte injury under chronic hypoxia in TOF. METHODS: Clinical data from TOF patients were collected and whole transcriptome sequencing was performed on myocardial samples. Chronic hypoxia models were established in cardiac-specific knockout mice and cardiomyocytes, and a series of molecular experiments were used to determine the specific mechanisms involved. RESULTS: Clinical cohort data and whole-transcriptome sequencing analysis of myocardial samples from TOF patients revealed that forkhead box O1 (FOXO1) plays an important role in chronic hypoxic cardiomyocyte injury. In a model of chronic hypoxia established in FOXO1 cardiac-specific knockout mice and FOXO1 gene-deficient cardiomyocytes, the AMPK signaling pathway regulates the expression of FOXO1, which in turn disrupts MQC by regulating the transcriptional activation of Rho-associated protein kinase 1 (ROCK1), and increasing the production of mitochondrial ROS, thereby exacerbating damage to cardiomyocytes. Excessive reactive oxygen species (ROS) production during MQC dysfunction further activates Cox7a2L to increase the assembly of the respiratory chain supercomplex. In addition, we found that miR-27b-3p partially binds to the 3' untranslated region of FOXO1 to exert a protective effect. CONCLUSIONS: Maintenance of MQC under chronic hypoxia is achieved through a series of injury-protection mechanisms, suggesting that FOXO1 inhibition may be crucial for future mitigation of chronic hypoxic cardiomyocyte injury in TOF.

[Redo right ventricular outflow tract repair for destruction of xenopericardial patch with monocusp]. / Povtornaya khirurgicheskaya korrektsiya vynosyashchego trakta pravogo zheludochka u patsientki s destruktsiei ksenoperikardial'noi zaplaty s monostvorkoi.

Tetralogy of Fallot is the most common «blue type¼ heart defect. The goals of surgical correction are closure of ventricular septal defect and reconstruction of right ventricular outflow tract. The results of reconstructions depend on several factors: age, material, management and size of conduit. Some patients may require redo surgery due to dysfunction after primary correction.

Lymphatic magnetic resonance imaging abnormalities in children with repaired tetralogy of Fallot.

INTRODUCTION: Tetralogy of Fallot patients face an elevated risk of developing chylothorax and pleural effusions post-surgery. This patient group exhibits risk factors known to compromise the lymphatic system, such as elevated central venous pressure, pulmonary flow changes, and hypoxia. This study investigates the morphology and function of the lymphatic system in tetralogy of Fallot patients through lymphatic magnetic resonance imaging and near-infrared fluorescence imaging, respectively. METHODS: Post-repair tetralogy of Fallot patients aged 6-18 years were recruited, along with age and gender-matched controls. Magnetic resonance imaging was used to assess the morphology of the thoracic lymphatic vessels and the thoracic, while near-infrared fluorescence imaging was used to assess lymphatic activity utilising lymph rate, velocity, and pressure. RESULTS: Nine patients and 10 controls were included. Echocardiography revealed that 2/3 of the patients had moderate-severe pulmonary regurgitation, while none displayed signs of elevated central venous pressure. Magnetic resonance imaging identified three patients with type 3 (out of 4 types) lymphatic abnormalities, while controls had none. The thoracic ducts showed severe (one patient) and moderate (one patient) tortuosity. Mean thoracic duct diameters were 3.3 mm ±1.1 in patients and 3.0 mm ± 0.8 in controls (p-value = 0.53). Near-infrared fluorescence imaging revealed no anomalous patterns. CONCLUSION: Despite no presence of clinical lymphatic disease, 3/9 of the repaired tetralogy of Fallot patients exhibited lymphatic morphological abnormalities. The significance of these anomalies remains uncertain currently. Further research is needed to determine whether these lymphatic alterations in this patient cohort are a result of congenital malformations, haemodynamic shifts, or prenatal and early-life saturation levels.

The Impact of a Residual Atrial Communication in Patients Undergoing Complete Repair for Tetralogy of Fallot: A Propensity Score Matched Analysis.

OBJECTIVE: Surgeons may leave a residual atrial-level communication during complete repair of Tetralogy of Fallot (TOF) in anticipation of restrictive right ventricle physiology or as routine practice. We investigated the impact of closing the interatrial communication at the time of definitive TOF repair. METHODS: We retrospectively reviewed TOF patients who underwent definitive repair at <12 months of age between June 2000 and January 2023. Propensity score matching identified 82 patients with a patent interatrial communication and 50 with no interatrial communication on postoperative echocardiography (as-treated analysis). The primary endpoint was maximum vasoactive-inotropic score (VIS) as a surrogate for low cardiac output syndrome. RESULTS: A total of 132 patients (median age: 3.5[IQR,1.8-5.8] months) were matched. There was no difference in maximum VIS (patent interatrial communication: 5.0[IQR, 4.8-9.0] vs. no interatrial communication: 6.0[IQR, 5.0-8.0], P=0.78). Additionally, duration of inotrope therapy (3.0[IQR, 2.0-4.0] vs 3.0[IQR, 1.3-4.0] days, P=0.57), peak lactate (2.2[IQR, 1.9-3.0] vs. 2.3[IQR, 1.9-3.2] mmol/L, P=0.58), time to lactate clearance (0.2[IQR, 0.0-0.3] vs. 0.1[IQR, 0.0-0.3] days, P=0.57), chest tube duration (4.0[IQR,3.0-6.0] vs 4.0[IQR, 3.0-5.0] days, P=0.23), and length of intensive care stay (5.0[IQR, 3.0-7.0] vs. 5.0[IQR, 3.0-7.0] days, P=0.71) were similar. Median follow-up was 5.5[IQR, 2.7-9.9] years. Among patients with a residual communication, patency rates were 93.6% and 53.7% at discharge and latest follow-up, respectively, with most having bidirectional shunting across the defect. CONCLUSIONS: Closure of the atrial-level communication during complete TOF repair does not significantly impact the immediate postoperative course or mid-term outcomes. Further investigation is warranted to better understand how patency influences long-term outcomes.

Assessing the Frequency of Congenital Heart Diseases Among Children in Eastern Afghanistan.

Background: Congenital heart disease (CHD), characterized by anatomical and functional abnormalities of the heart, can impair an individual's quality of life and, if not treated with appropriate interventions, it can result in early death. Morbidity and mortality from CHD are greatly reduced by early diagnosis and timely therapy. Therefore, this study aimed to determine the frequency of various forms of CHD among affected children in Eastern Afghanistan considering age, gender, and region of distribution (countryside and city). Patients and Methods: A retrospective hospital-based study was conducted on 1323 patients with a confirmed diagnosis of CHD who were referred for echocardiography to public and private hospitals in Jalalabad City, Afghanistan, from July 2018 to June 2022. Patients from day one of life till 18 years were included. The study participants were chosen using a non-probability convenience sampling technique, and the data were analyzed using the statistical package for social sciences (SPSS) version 27.0. Results: In this study, males comprised 60.4% of the participants, while females made up 39.6%. More than three-quarters (86.4%) of the diagnoses were in children below 1 year of age. 86.5% of them were patients with acyanotic, and 13.5% had cyanotic CHD. The most common acyanotic heart disease was patent ductus arteriosus (PDA; 252.6%), followed by ventricular septal defect (VSD; 18.4%) and atrial septal defect (ASD; 8.5%). The most frequent cyanotic heart disease was Tetralogy of Fallot (TOF). 79.9% of the total cases were patients with simple CDH lesions, and 20.1% had complex CHD lesions. In addition, participants from rural areas had a higher (78.9%) frequency of CHD compared to those from urban areas (21.1%). Conclusion: The study concluded that over 85% of CHD-diagnosed cases were under 1 year of age, with PDA, VSD, ASD, and TOF being the most commonly diagnosed acyanotic and cyanotic lesions. Participants from rural residence had a higher frequency of CHD compared to those from urban residence. Additionally, our study found that more males were affected by CHD compared to females. In order to avoid serious complications, reduce mortality, and improve quality of life, early identification and correction of disease is crucial.

Radiomics with structural magnetic resonance imaging, surface morphometry features, neurology scales, and clinical metrics to evaluate the neurodevelopment of preschool children with corrected tetralogy of Fallot.

Background: Despite the improved survival rates of children with tetralogy of Fallot (TOF), various degrees of neurodevelopmental disorders persist. Currently, there is a lack of quantitative and objective imaging markers to assess the neurodevelopment of individuals with TOF. This study aimed to noninvasively examine potential quantitative imaging markers of TOF neurodevelopment by combining radiomics signatures and morphological features and to further clarify the relationship between imaging markers and clinical neurodevelopment metrics. Methods: This study included 33 preschool children who had undergone surgical correction for TOF and 29 healthy controls (36 in the training cohort and 26 in the testing cohort), all of whom underwent three-dimensional T1-weighted high-resolution (T1-3D) head magnetic resonance imaging (MRI). Radiomics features were extracted by Pyradiomics to construct radiomics models, while surface morphometry (surface and volumetric) features were analyzed to build morphometry models. Merged models integrating radiomics and morphometry features were subsequently developed. The optimal discriminative radiomics signatures were identified via least absolute shrinkage and selection operator (LASSO). Machine learning classification models include support vector machine (SVM) with radial basis function (RBF) and multivariable logistic regression (MLR) models, both of which were used to evaluate the potential imaging biomarkers. Performances of models were evaluated based on their calibration and classification metrics. The area under the receiver operating characteristic curves (AUCs) of the models were evaluated using the Delong test. Neurodevelopmental assessments for children with corrected TOF were conducted with the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV). Furthermore, the correlation of the significant discriminative indicators with clinical metrics and neurodevelopmental scales was evaluated. Results: Twelve discriminative radiomics signatures, optimized for classification, were identified. The performance of the merged model (AUCs of 0.922 and 0.917 for the training set and test set with SVM, respectively) was superior to that of the single radiomics model (AUCs of 0.915 and 0.917 for the training set and test set with SVM, respectively) and that of the single morphometric models (AUCs of 0.803 and 0.756 for the training set and test set with SVM, respectively). The radiomics model demonstrated higher significance than did the morphometric models in training set with SVM (AUC: 0.915 vs. 0.803; P<0.001). Additionally, the significant indicators showed a correlation with clinical indicators and neurodevelopmental scales. Conclusions: MRI-based radiomics features combined with morphometry features can provide complementary information to identify neurodevelopmental abnormalities in children with corrected TOF, which will provide potential evidence for clinical diagnosis and treatment.

Ventricular Tachycardia Substrates in Children and Young Adults With Repaired Tetralogy of Fallot.

BACKGROUND: Patients with repaired tetralogy of Fallot (rTOF) have a time-dependent increased risk of ventricular tachycardia (VT). Slow conducting anatomical isthmuses (SCAIs) are the dominant VT substrates in adults with rTOF. It is unknown if they are present at younger age. OBJECTIVES: This study aimed to characterize VT substrates in patients with rTOF <30 years of age. METHODS: Data of consecutive patients with rTOF aged <30 years who underwent electroanatomical mapping and programmed electrical stimulation between 2005 and 2022 were analyzed. RESULTS: Fifty-five patients were included (median age: 15.8 years, IQR: 13.8-21.8 years; 15 repaired via ventriculotomy; 13 complex TOF variants). Twelve patients had right ventricle-to-pulmonary artery conduits inserted during initial repair or had early pulmonary valve replacement (PVR) (<1 year after repair). Indications for electroanatomical mapping and programmed electrical stimulation were spontaneous VT, before PVR, and risk stratification in 5, 40, and 10 patients, respectively. In 16 patients (29%), SCAI 3 was identified; no other SCAI was present. Monomorphic VT was inducible in 8 and related to SCAI 3 in 7 patients. Identified VT substrates were targeted by ablation. Right ventricle-to-pulmonary artery conduit/early PVR, ventriculotomy, and complex TOF were associated with SCAI 3 in univariable analysis. During a median follow-up of 5.3 years, VT recurred in 2 patients. No patients died. CONCLUSIONS: In young patients with rTOF, SCAI 3 is the dominant substrate for VT. Complex TOF and interrelated type and timing of (re-)operation may contribute to the development of SCAI 3 already at a young age.

Automated biventricular quantification in patients with repaired tetralogy of Fallot using a 3D deep learning segmentation model.

BACKGROUND: Deep learning is the state-of-the-art approach for automated segmentation of the left ventricle (LV) and right ventricle (RV) in cardiac magnetic resonance (CMR) images. However, these models have been mostly trained and validated using CMR datasets of structurally normal hearts or cases with acquired cardiac disease, and are therefore not well-suited to handle cases with congenital cardiac disease such as tetralogy of Fallot (TOF). We aimed to develop and validate a dedicated model with improved performance for LV and RV cavity and myocardium quantification in patients with repaired TOF. METHODS: We trained a 3D convolutional neural network (CNN) with 5-fold cross-validation using manually delineated end-diastolic (ED) and end-systolic (ES) short-axis image stacks obtained from either a public dataset containing patients with no or acquired cardiac pathology (n=100), an institutional dataset of TOF patients (n=96), or both datasets mixed. Our method allows for missing labels in the training images to accommodate for different ED and ES phases for LV and RV as is commonly the case in TOF. The best performing model was applied to all frames of a separate test set of TOF cases (n=36) and ED and ES phases were automatically determined for LV and RV separately. The model was evaluated against the performance of a commercial software (suiteHEART®, NeoSoft, Pewaukee, Wisconsin, US). RESULTS: Training on the mixture of both datasets yielded the best agreement with the manual ground truth for the TOF cases, achieving a median DICE similarity coefficient of (93.8%, 89.8%) for LV cavity and of (92.9%, 90.9%) for RV cavity at (ED, ES) respectively, and of 80.9% and 61.8% for LV and RV myocardium at ED. The offset in automated ED and ES frame selection was 0.56 and 0.89 frames on average for LV and RV respectively. No statistically significant differences were found between our model and the commercial software for LV quantification (two-sided Wilcoxon signed rank test, p<5%), while RV quantification was significantly improved with our model achieving a mean absolute error of 12ml for RV cavity compared to 36ml for the commercial software. CONCLUSION: We developed and validated a fully automatic segmentation and quantification approach for LV and RV, including RV mass, in patients with repaired TOF. Compared to a commercial software, our approach is superior for RV quantification indicating its potential in clinical practice.

Right Ventricle-Pulmonary Artery Conduit Replacement Resolves Anomalous Single Coronary Stenosis in Repaired Tetralogy of Fallot.

A 41-year-old man with repaired tetralogy of Fallot and a single coronary artery (CA) arising anteriorly presented with dyspnea in the setting of moderate right ventricle-pulmonary artery conduit (RV-PAC) stenosis and moderate-to-severe extrinsic left main CA compression between the aorta and RV-PAC. His CA stenosis resolved after successful RV-PAC replacement.

Association between subcortical nuclei volume changes and cognition in preschool-aged children with tetralogy of Fallot after corrective surgery: a cross-sectional study.

BACKGROUND: Neurocognitive disorders frequently occur in patients with cyanotic congenital heart disease (CCHD) because of the hemodynamic abnormalities induced by preoperative cardiac structural changes. We aimed to evaluate subcortical nuclei volume changes and cognition in postoperative tetralogy of Fallot (TOF) children, and analyze their relationship with preoperative cardiac structural changes. METHODS: This case-control study involved thirty-six children with repaired TOF and twenty-nine healthy controls (HCs). We utilized three-dimensional (3D) T1-weighted high-resolution structural images alongside the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV) to evaluate the cognitive differences between the TOF and HC group. RESULTS: We observed notable differences in subcortical nuclei volume between the TOF and HC group, specifically in the left amygdala nucleus (LAM, TOF: 1292.60 ± 155.57; HC: 1436.27 ± 140.62, p < 0.001), left thalamus proper nucleus (LTHA, TOF: 6771.54 ± 666.03; HC: 7435.36 ± 532.84, p < 0.001), and right thalamus proper nucleus (RTHA, TOF: 6514.61 ± 715.23; HC: 7162.94 ± 554.60, p < 0.001). Furthermore, a diminished integrity of LAM ( ß:-19.828, 95% CI: -36.462, -3.193), which showed an inverse relationship with the size of the preoperative ventricular septal defect (VSD), correlated with lower working memory indices in children with TOF. CONCLUSIONS: Our findings indicate that subcortical nuclei structural injuries possibly potentially stemming from cardiac anatomical abnormalities, are associated with impaired working memory in preschool-aged children with TOF. The LAM in particular may serve as a potential biomarker for neurocognitive deficits in TOF, offering predictive value for future neurodevelopmental outcomes, and shedding light on the neurophysiological mechanisms of these cognitive impairments.

Health-Related Quality of Life After Neonatal Treatment of Symptomatic Tetralogy of Fallot: Insights from the Congenital Cardiac Research Collaborative.

To evaluate the association between initial management strategy of neonatal symptomatic Tetralogy of Fallot (sTOF) and later health-related quality of life (HRQOL) outcomes. We performed a multicenter, cross-sectional evaluation of a previously assembled cohort of infants with sTOF who underwent initial intervention at ≤ 30 days of age, between 2005 and 2017. Eligible patients' parents/guardians completed an age-appropriate Pediatric Quality of Life Inventory, a Pediatric Quality of Life Inventory Cardiac Module Heart Disease Symptoms Scale, and a parental survey. The association between treatment strategy and HRQOL was evaluated, and the entire sTOF cohort was compared to published values for the healthy pediatric population and to children with complex congenital heart disease and other chronic illness. The study cohort included 143 sTOF subjects, of which 59 underwent a primary repair, and 84 had a staged repair approach. There was no association between initial management strategy and lower HRQOL. For the entire cohort, in general, individual domain scores decreased as age sequentially increased. Across domain measurements, mean scores for the sTOF cohort were significantly lower than the healthy pediatric population and comparable to those with other forms of complex CHD and other chronic health conditions. The presence of a genetic syndrome was significantly associated with a poor HRQOL (p = 0.003). Initial treatment strategy for sTOF was not associated with differences in late HRQOL outcomes, though the overall HRQOL in this sTOF cohort was significantly lower than the general population, and comparable to others with chronic illness.