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ObjectiveThis study aimed to explore Kawasaki disease (KD) susceptibility genes and their complications like coronary artery lesions (CAL) using whole exome sequencing (WES).MethodsBetween April 1, 2021, and December 31, 2022, our study included 55 pediatric patients diagnosed KD at our center, alongside a cohort of healthy children who sought medical care at our institution during the same timeframe. We extracted peripheral blood DNA from all participants and employed the advanced high-throughput Illumina Next-Generation Sequencing technology for comprehensive analysis. Through bioinformatics evaluation, we identified potential susceptibility genes. Moreover, from the 55 KD patients, we selected 15 for the CAL group and 40 for the non-CAL group. We aimed to investigate whether there were significant differences in the allele frequencies of the targeted susceptibility genes between these subgroups, to explore the risk alleles associated with the development of CAL in KD.ResultsHLA-DRB1 rs17882084 and IL6ST rs781455079 genotypes and alleles differed significantly between KD and non-KD (P 0.05). No differences in HLA-DRB1 rs17882084, IL6ST rs781455079, and VEGFB rs776229557 genotypes existed between CAL and non-CAL groups (P > 0.05). However, the IL17RC rs143781415 genotype differed significantly between them (P

ObjectiveThis study investigates the impact of mild pulmonary vein obstruction, detected via echocardiography before hospital discharge, on the likelihood of reoperation in patients who have undergone repair for Total Anomalous Pulmonary Venous Connection (TAPVC).MethodUtilizing a single-center, retrospective cohort approach, we analyzed 38 cases from October 2017 to December 2023, excluding patients with functionally univentricular circulations or atrial isomerism. Our primary outcome was the necessity for reoperation within one year due to anatomical issues related to the initial TAPVC repair. Mild obstruction was defined as a pulmonary vein flow velocity ≥1.2 m/s.ResultOur findings revealed that 31.6% of patients exhibited pre-discharge mild obstruction. During the median follow-up of 10 months, reoperations were notably higher in the mild obstruction group compared to the normal group, with a significant association between pre-discharge mild obstruction and increased risk of reoperation. Specifically, in the fully adjusted model, mild obstruction was linked to a 13.9-fold increased risk of reoperation.ConclusionOur results suggest that a pre-discharge echocardiography Doppler velocity threshold of 1.2 m/s could serve as a critical predictor for reoperation, emphasizing the need for targeted follow-up strategies for at-risk patients.

ObjectiveThis study aimed to investigate the relationship between technical performance scores (TPS) and the early prognosis of tetralogy of Fallot repair (TOF).MethodsA retrospective study was conducted on TOF repair patients at our center from Oct 2017 to Oct 2022. Patients were classified into Class 1 (no residua), Class 2 (minor residua), or Class 3 (major residua) based on TPS derived from predischarge echocardiograms and need for reintervention. Statistical methods were used to assess the association between TPS and early prognosis.ResultsA total of 75 TOF repair patients (40% female, 60% male) were analyzed and categorized into TPS1 (24%), TPS2 (53.3%), and TPS3 (22.6%) based on pre-discharge echocardiographic findings. The median follow-up time was 7.0 months. The multivariable Cox regression analysis indicated that TPS3 scores are associated with a 12.68-fold increase in risk compared to TPS1 and TPS2 scores [95% CI = 12.68 (0.9∼179.28), P = 0.06]. The Spearman rank correlation analysis revealed a weak positive correlation between TPS classification and low cardiac output syndrome (r = 0.26, P = 0.03). However, there were no significant differences in ICU stay or duration of mechanical ventilation among the groups.ConclusionTPS3 after intracardiac TOF repair is associated with higher risk of early re-intervention, highlighting the importance of close follow-up and monitoring in this patient population. Patients who develop low cardiac output syndrome in the early postoperative period may have residual defects that require prompt identification.

BackgroundIn this case report, we utilized a three-dimensional printing model to replicate the complex anatomy of a criss-cross heart with double outlet right ventricle—an extremely rare congenital cardiac abnormality. This approach facilitated our understanding of the patient's unique condition and enabled us to plan the surgical procedure with greater precision.Case presentationOur department received a 13-year-old female patient who presented with a pronounced heart murmur and a decrease in exercise capacity. Subsequent two-dimensional imaging revealed the presence of a criss-cross heart with double outlet right ventricle—an intricate and uncommon cardiac malformation that poses challenges for accurate visualization through conventional two-dimensional modalities. To address this challenge, we constructed and printed a three-dimensional model using computed tomography data, which enabled us to visualize and understand the complex intracardiac structures and plan surgical interventions with greater precision. Using this approach, we successfully performed a right ventricular double outlet repair, and the patient made a full recovery following the procedure.ConclusionThe criss-cross heart with double outlet right ventricle constitutes a complex and uncommon cardiac anomaly that poses considerable challenges in terms of diagnosis and surgical intervention. Employing three-dimensional modeling and printing represents a promising approach, given its potential to enhance the precision and comprehensiveness of the anatomical evaluation of the heart. As a result, this method holds significant promise in facilitating accurate diagnosis, meticulous surgical planning, and ultimately improving clinical outcomes for patients affected by this condition.

Prenatal anterior mediastinal teratomas are rare. Anterior mediastinal teratomas can cause edema during the perinatal period. Color Doppler ultrasonography and chest computed tomography (CT) are of great value in diagnosing neonatal anterior mediastinal teratomas. Here, we report a case of prenatally diagnosed neonatal anterior mediastinal teratoma. After birth, transthoracic echocardiography and chest enhanced CT showed a large solid mass in the pericardial cavity. Owing to compression of the heart, the tumor was completely removed 1 day after birth, and cardiopulmonary bypass was performed. Pathology results indicated an immature teratoma (Grade I). At 9-month follow-up, the patient remained in good overall condition without observed recurrences.