UNASSIGNED: Studies have revealed that inflammatory response is relevant to the tetralogy of Fallot (TOF). However, there are no studies to systematically explore the role of the inflammation-related genes (IRGs) in TOF. Therefore, based on bioinformatics, we explored the biomarkers related to inflammation in TOF, laying a theoretical foundation for its in-depth study.
UNASSIGNED: TOF-related datasets (GSE36761 and GSE35776) were downloaded from the Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) between TOF and control groups were identified in GSE36761. And DEGs between TOF and control groups were intersected with IRGs to obtain differentially expressed IRGs (DE-IRGs). Afterwards, the least absolute shrinkage and selection operator (LASSO) and random forest (RF) were utilized to identify the biomarkers. Next, immune analysis was carried out. The transcription factor (TF)-mRNA, lncRNA-miRNA-mRNA, and miRNA-single nucleotide polymorphism (SNP)-mRNA networks were created. Finally, the potential drugs targeting the biomarkers were predicted.
UNASSIGNED: There were 971 DEGs between TOF and control groups, and 29 DE-IRGs were gained through the intersection between DEGs and IRGs. Next, a total of five biomarkers (MARCO, CXCL6, F3, SLC7A2, and SLC7A1) were acquired via two machine learning algorithms. Infiltrating abundance of 18 immune cells was significantly different between TOF and control groups, such as activated B cells, neutrophil, CD56dim natural killer cells, etc. The TF-mRNA network contained 4 mRNAs, 31 TFs, and 33 edges, for instance, ELF1-CXCL6, CBX8-SLC7A2, ZNF423-SLC7A1, ZNF71-F3. The lncRNA-miRNA-mRNA network was created, containing 4 mRNAs, 4 miRNAs, and 228 lncRNAs. Afterwards, nine SNPs locations were identified in the miRNA-SNP-mRNA network. A total of 21 drugs were predicted, such as ornithine, lysine, arginine, etc.
UNASSIGNED: Our findings detected five inflammation-related biomarkers (MARCO, CXCL6, F3, SLC7A2, and SLC7A1) for TOF, providing a scientific reference for further studies of TOF.

Background Although the recommended time for total correction of tetralogy of Fallot (TOF) is during infancy, sometimes TOF cases present to healthcare setups after pre-school age, with some cases presenting even beyond adolescence in developing countries. The objective of this study was to assess patients with TOF weighing 10 kg and above who underwent definitive corrective surgical techniques such as transannular patch (TAP), valve-sparing right ventricular outflow tract (RVOT) pericardial patch augmentation, non-ventriculotomy infundibular resection for postoperative complications, hospital stay, and right ventricular (RV) dysfunction in the immediate postoperative period and subsequent outpatient department follow-ups. Methodology This comprehensive, retrospective cohort study included single-center data collected between January 16, 2018, and January 15, 2024. The study included 63 patients diagnosed with TOF weighing 10 kg and above, ensuring a robust and representative sample. Results Of the 119 patients who underwent total correction for TOF, 63 met the study\'s inclusion criteria of TOF weighing above 10 kg. Of the 63 patients, 55.6% were males, and 44.4% were females. The mean weight of the study participants was 33.4 kg. The mean age was 15.9 years. Of the 63 patients, 39 underwent TAP surgery, 18 underwent RVOT patch augmentation, and six underwent total correction by non-ventriculotomy infundibular resection. There was a significant difference between the type of surgery groups and RV dysfunction, with the TAP group showing a higher incidence of RV dysfunction, indicating a potential risk factor associated with this technique. Conclusions Although TAP has significant immediate postoperative complications compared to other techniques, its long-term follow-up suggests that long-term survival and quality of life, as measured by major adverse cardiac events such as heart failure, arrhythmias, and reoperation rates, are commensurable in adulthood. This indicates that despite the initial challenges, TAP can provide satisfactory outcomes in the long run.

BACKGROUND: Absent Pulmonary Valve Syndrome (APVS) is a rare birth defect where the pulmonary valve is missing or underdeveloped. APVS often occurs alongside Tetralogy of Fallot, (TOF) another heart defect.
METHODS: A 33-year-old woman gave birth to a male infant with severe pulmonary stenosis (PS) and a large ventricular septal defect (VSD). The infant underwent surgery to close the VSD and resect the stenotic ring. Two years later, he remained asymptomatic with a closed VSD and no pulmonary valve gradient.
CONCLUSIONS: Despite high mortality rates, long-term survival has improved with advancements in surgical repair. This case underscores the significance of early detection and personalized surgical strategies for complex congenital heart defects.
CONCLUSIONS: Early identification of subtle symptoms is crucial for timely intervention, while individualized surgical strategies optimize outcomes. Further research is needed to understand the complex interplay of cardiac anomalies in APVS, particularly the absence of a patent ductus arteriosus in this case.

Acute cerebellitis with obstructive hydrocephalus post-Tetralogy of Fallot surgery is extremely rare but can present aggressively in pediatric cases. Early diagnosis is critical for prompt medical and surgical intervention. We report a fatal case in a 7-year-old boy post-surgery, where neurological symptoms rapidly progressed, leading to drowsiness and intermittent response to commands. Despite initial computed tomography scans showing no abnormality, subsequent scans revealed cerebellitis and hydrocephalus. Treatment with steroids, antibiotics, and cerebrospinal fluid drainage was unsuccessful, and the condition\'s etiology remained unclear despite negative serological tests and cultures. This highlights the challenge of diagnosing and treating acute cerebellitis, especially when no specific cause is found and when deterioration is swift. The role of opioids in pediatric patients and their potential association with neurosurgical complications is also discussed, prompting further inquiry into postoperative symptoms and opioid-related risks in susceptible individuals.

Over the last 2 decades, experience with transcatheter pulmonary valve replacement (TPVR) has grown significantly and has become an effective and reliable way of treating pulmonary valve regurgitation, right ventricular outflow (RVOT) obstruction, and dysfunctional bioprosthetic valves and conduits. With the introduction of self-expanding valves and prestents, dilated native RVOT can be addressed with the transcatheter approach. In this article, the authors review the current practices, technical challenges, and outcomes of TPVR.

UNASSIGNED: The neutrophil-lymphocyte ratio (NLR) is an easily accessible and inexpensive biomarker that has been shown to predict morbidity and mortality in congenital cardiac surgery. However, its regulatory mechanism remains unclear. This study aims to compare and correlate the tumor necrosis factor alpha (TNF-α), interleukin (IL)-1β, IL-6, and IL-10 messenger RNAs (mRNAs) with the NLR in patients with tetralogy of Fallot (ToF) and ventricular septal defect (VSD).
UNASSIGNED: A prospective translational study was conducted on 10 children with ToF and 10 with VSD, aged between 1 and 24 months. The NLR was calculated from the blood count taken 24 hours before surgery. The expression of these mRNAs was analyzed in the myocardial tissue of the right atrium prior to cardiopulmonary bypass.
UNASSIGNED: Patients with ToF exhibited a higher NLR [ToF 0.46 (interquartile range; IQR) 0.90; VSD 0.28 (IQR 0.17); P=0.02], longer mechanical ventilation time [ToF 24 h (IQR 93); VSD 5.5 h (IQR 8); P<0.001], increased use of vasoactive drugs [ToF 2 days (IQR 1.75); VSD 0 (IQR 1); P=0.01], and longer ICU [ToF 5.5 (IQR 1); VSD 2 (IQR 0.75); P=0.02] and hospital length of stays [ToF 18 days (IQR 17.5); VSD 8.5 days (IQR 2.5); P<0.001]. A negative correlation was found between NLR and oxygen saturation (SaO2) (r=-0.44; P=0.002). In terms of mRNA expression, the ToF group showed a lower expression of IL-10 mRNA (P=0.03). A positive correlation was observed between IL-10-mRNA and SaO2 (r=0.40; P=0.07), and a negative correlation with NLR (r=-0.27; P=0.14).
UNASSIGNED: Patients with ToF demonstrated a higher preoperative NLR and lower IL-10 mRNA expression by what appears to be a pro-inflammatory phenotype of cyanotic patients.

UNASSIGNED: The most prevalent cyanotic congenital heart disease (CHD) phenotype is tetralogy of Fallot (TOF). Rare genetic variations have been identified as significant risk factors for CHD. Thus, this research sought to identify the pathogenic variations and molecular etiologies of TOF.
UNASSIGNED: This study employed whole-exome sequencing (WES) and Sanger sequencing to identify pathogenic variations in DNA samples from patients with TOF. The pathogenicity of the variations was predicted using an in-silico approach.
UNASSIGNED: We enrolled 17 patients with TOF in this study. Among these patients, 14 had mutations in TOF-related genes, including GJB2, TBX15, CTNS, SPINK1, GATA6, PRIMOL, GDF15, SLC17A9, AIFM1, FOXC2, KLF13, ABCA4, CPA6, FKBP10, ASPA, SBF1, HBA2, IGLL1, GNE, and KLHL10. We also gathered WES data from three participants without TOF, who comprised the control group, but no variations were found in the indicated genes. Further analysis showed that the patients with FKBP10 and GNE variants had more serious clinical symptoms. Sanger sequencing confirmed that the two variants were heterozygous in TOF patients.
UNASSIGNED: We identified several genetic variants associated with TOF and confirmed that FKBP10 and GNE variants were associated with TOF severity. The findings of this study help researchers and clinicians on genetic counseling with the verification of the potential of WES in detecting TOF and help implement early interventions for patients with TOF.

UNASSIGNED: Tetralogy of Fallot is a common congenital heart disease characterized by cyanosis. The primary treatment approach involves corrective surgery typically performed within the first year of life to achieve complete resolution. However, certain patients may undergo surgery at an older age. This study seeks to assess the efficacy of surgery by examining the midterm outcomes of total correction of Tetralogy of Fallot when performed in older individuals.
UNASSIGNED: This interventional-longitudinal study focused on patients who underwent complete surgery to correct tetralogy of Fallot at an advanced age of over 15 years. All of the participants were referred to the Shahid Rajaei Heart and Vascular Center, which is a referral center for congenital heart diseases in Iran, between 2010 and 2020. The surgical procedures for these patients involved primary total correction of tetralogy of Fallot or surgery following by shunt implantation. Prior to the surgery, the necessary information was gathered from the patients\' medical records. The patients were then monitored over a 5-year period, during which they received regular check-ups from cardiologist with fellowship in adult congenital heart disease.
UNASSIGNED: A total of 94 participants were enrolled in the study, with an average age of 26.7 ± 9.6 years. Notably, the majority of the participants were male. The study reported a late mortality rate of 3.2%. Furthermore, 17 patients, constituting 18% of the cohort, underwent a secondary surgical procedure. This secondary surgery encompassed 14 cases of Pulmonary Valve Replacement (14.8%) and 3 cases of Ventricular Septal Defect repair (3.1%).
UNASSIGNED: While the optimal age for total correction of Tetralogy of Fallot is conventionally considered to be within the first year of life, this study demonstrated that surgical intervention performed at a later stage of life can yield favorable midterm prognoses. It is imperative to emphasize that individuals unable to undergo surgery at the ideal age due to a multitude of factors should not be deprived of the potential benefits associated with surgical intervention.

UNASSIGNED: Low cardiac output syndrome (LCOS) remains a serious postoperative complication for children with tetralogy of Fallot (TOF), which often leads to increased morbidity and mortality. Early identification of LCOS and timely management are critical for better outcomes. This study aimed to develop a prediction model incorporating pre- and intraoperative characteristics for LCOS within 24 hours after surgical repair of TOF in children.
UNASSIGNED: The training dataset consisted of patients with TOF who underwent surgical repair in 2021, while the validation dataset consisted of patients in 2022. The univariable and multivariable logistic regression analyses were performed to recognize the risk factors of postoperative LCOS and a predictive model was established based on multivariable logistic regression analysis in the training dataset. Model predictive power was assessed using the area under the receiver operating characteristic curve (AUC). The calibration of the nomogram was evaluated and the Hosmer-Lemeshow test was used to assess the good fit. Decision curve analysis (DCA) was used to estimate the net benefits of the prediction model at different threshold probabilities.
UNASSIGNED: In the multivariable logistic analysis, peripheral oxygen saturation, mean blood pressure, and central venous pressure were independent risk factors for postoperative LCOS. The AUC of the predictive model for postoperative LCOS was 0.84 (95% CI: 0.77-0.91) and 0.80 (95% CI: 0.70-0.90) in the training and validation datasets, respectively. The calibration curve for the probability of LCOS showed good agreement between the prediction by nomogram and actual observation both in the training and validation datasets. The Hosmer-Lemeshow test yielded nonsignificant statistics both in the training and validation datasets (P=0.69 and 0.54, respectively), indicating a good fit. The DCA revealed that more net benefits would be obtained by using the nomogram to predict LCOS than that achieved in either the treat-all-patient scheme or the treat-none scheme both in the training and validation datasets.
UNASSIGNED: This study is the first to incorporate pre- and intraoperative characteristics to develop a predictive model for LCOS after surgical repair of TOF in children. This model showed good discrimination, good fit and clinical benefits.