Congenital heart disease (CHD) is a common birth defect in children, and surgical intervention is the primary treatment. The traditional standard median sternotomy (MS) has drawbacks such as significant trauma and obvious scarring. The right axillary incision (RAI) has gradually become a conventional approach due to its advantages of preserving thoracic cage integrity, small incision size, rapid recovery, and hidden scarring. However, there is currently a lack of relevant guidelines and consensus for its application. This consensus adopts the international Delphi process, systematically searching domestic and foreign literature on CHD from 1982 to 2024. It uses the GRADE system for evidence grading and, through multidisciplinary expert discussions, clarifies the applicable CHD types, surgical techniques, establishment of extracorporeal circulation, organ protection strategies, management of special disease types, and approaches to common complications of RAI. Results show that RAI is strongly recommended for most simple congenital heart diseases (CHDs) (e.g., simple ventricular septal defect, atrial septal defect), weakly recommended for some complex CHDs (e.g., mild tetralogy of Fallot), and not recommended for complex CHDs such as transposition of the great arteries or in children with severe right thoracic deformity. Additionally, it standardizes key operational parameters: weight (5-30 kg as optimal), age (6 months-6 years as preferred), incision location, extracorporeal circulation cannulation, and organ protection measures. This consensus provides an evidence-based basis for standardizing the clinical application of RAI in open-heart surgery for CHD, ensuring surgical safety and efficacy.

Excessive right heart load imposes an acute or chronic injury on the right ventricle (RV), predisposing critically ill neonates and cardiac surgical patients to RV failure, low cardiac output syndrome, and death. Inhaled nitric oxide (iNO) is a selective pulmonary vasodilator that improves ventilation–perfusion matching and unloads the RV without systemic hypotension; nonetheless, its application beyond established neonatal indications remains contentious. Our review synthesizes current mechanistic, translational, and clinical evidence regarding iNO use in three major settings characterized by excessive RV load: (1) neonatal pulmonary hypertension, particularly PPHN; (2) acute and chronic RV overload in older children and adults, including secondary pulmonary hypertension, acute respiratory distress syndrome (ARDS), and acute pulmonary embolism; and (3) perioperative and post-cardiopulmonary bypass (CPB) management in congenital and adult cardiac surgery. In term and near-term infants with hypoxic respiratory failure, pivotal randomized trials show that iNO consistently improves oxygenation and reduces extracorporeal membrane oxygenation (ECMO) use, but this has little effect on survival and long-term neurodevelopment. In ARDS and other adult critical-care indications, iNO provides transient improvements in gas exchange and RV performance without reducing mortality or ventilator duration, and meta-analyses signal an increased risk of acute kidney injury, particularly with prolonged use. In contrast, perioperative studies around CPB demonstrate that prophylactic postoperative iNO and intra-CPB nitric oxide administration can attenuate pulmonary hypertensive crises, facilitate separation from CPB, shorten ventilation and intensive care stay, and, in selected high-risk cohorts, may reduce cardiac surgery-associated acute kidney injury, although survival benefits remain unproven. Across these scenarios, iNO should be used judiciously and in a pathophysiology-driven manner as a time-limited, targeted adjunct to stabilize patients with documented or anticipated RV strain rather than a disease-modifying therapy. Future work should refine patient selection, timing, dosing, and weaning strategies, and define the long-term safety and cost-effectiveness of iNO within contemporary multimodal RV support pathways.

Surgical therapy of supravalvular aortic stenosis (SVAS) is associated with low overall early mortality but high incidence of postoperative adverse cardiac events. The aims of this study were to develop and validate a predictive model for major adverse cardiovascular events (MACE) in patients undergoing surgical repair of SVAS. This study included 262 patients who underwent surgical repair of SVAS between 2002 and 2019 in Beijing and Yunnan, China. MACE occurred during postoperative hospitalization or within 30 days after SVAS repair. Multivariate logistic regression was used to select prognostic factors for MACE and construct a nomogram. The receiver operating characteristic curve (ROC), calibration curve and decision curve analysis (DCA) were used to assess the predictive performance of the nomogram. Age, sex, body surface area, cardiopulmonary bypass time, and aortic valve z score were identified as prognostic factors. These five prognostic factors were used to construct the prediction nomogram. The area under the curve of the model was 0.859 (95

Anomalous aortic origin of a coronary artery (AAOCA) is the second leading cause of sudden cardiac death in young athletes. While anomalous aortic origin of the right coronary artery (AAORCA) predominates, anomalous aortic origin of the left coronary artery (AAOLCA) carries higher mortality. Surgical correction requires anatomical precision due to heterogeneous anatomy. A retrospective analysis (June 2016–June 2023) included 17 AAOCA patients (mean age: 11.9 ± 3.8 years). Surgical techniques included unroofing (94.1

Carcinoembryonic antigen is a glycoprotein often associated with colorectal carcinoma but can also increase in other malignancies. We reported a rare case of prostate mucinous adenocarcinoma in a 69-year-old male with elevated carcinoembryonic antigen and normal prostate-specific antigen. The patient, with a history of benign prostatic hyperplasia, was initially asymptomatic apart from an elevated carcinoembryonic antigen detected during routine examination. Comprehensive evaluations, including colonoscopy, CT and PET/CT, yielded no conclusive findings. However, a pelvic MRI later revealed an irregular prostatic mass, and a biopsy confirmed adenocarcinoma with mucinous features. Carcinoembryonic antigen positivity was further demonstrated by immunohistochemistry on the specimen. This case highlights that isolated carcinoembryonic antigen elevation, even in the absence of prostate-specific antigen elevation, may warrant consideration of prostatic carcinoma in differential diagnosis, particularly in the absence of colorectal carcinoma history. Elevated carcinoembryonic antigen levels should prompt further investigation, as they may serve as an early marker for prostatic malignancies when followed by targeted imaging and histological confirmation.

To investigate, through four clinical cases, whether compression-induced deformation of the left lower pulmonary vein by the descending aorta is an etiological factor in certain cases of severe pulmonary arterial hypertension (PAH) in children. Four pediatric patients with severe PAH and left lower pulmonary vein stenosis (PVS) due to external compression by the descending aorta underwent surgical repair under general anesthesia with hypothermic extracorporeal circulation. The first patient underwent patch augmentation of the left lower pulmonary vein using pericardium. The remaining three patients underwent left lower pulmonary vein reimplantation to relieve the compression. Preoperatively, following oxygen inhalation, the total pulmonary resistance indexed to body surface area in the first three patients was 11.7, 12.6, and 20.2 Wood units × m², respectively. Intraoperative observation confirmed normally developed left lower pulmonary veins with smooth intima and no intrinsic stenosis. Postoperatively, pulmonary artery pressure normalized in all cases. Computed tomography confirmed complete relief of the venous compression. Postoperative right heart catheterization in the first three patients showed indexed total pulmonary resistances of 8.6, 9.1, and 13.9 Wood units × m². All four patients exhibited significant symptomatic improvement. In children with severe PAH of unexplained origin, impaired drainage of the left lower pulmonary vein secondary to compression by the descending aorta may be an initiating pathogenic factor. Surgical correction of this compression represents a novel therapeutic strategy for a subset of patients with idiopathic PAH.

BACKGROUND:Neonates with CCHD remain at high risk for mortality. This study aimed to evaluate the impact of the prenatal-postnatal integrated management model (PPIMM) on perioperative outcomes and mortality in neonates with CCHD, and to identify factors associated with mortality. METHODS:This retrospective cohort study enrolled 274 neonates with CCHD undergoing cardiac surgery from January 2018 to August 2024. Patients were categorized into the PPIMM group (n = 140) and the non-PPIMM group (n = 134). The primary outcome was all-cause mortality, including operative mortality and late mortality. The secondary outcome was unplanned reoperation. Kaplan-Meier survival and Cox regression analyses were performed. RESULTS:The PPIMM group underwent surgery at a younger age (8.00 vs. 16.00 days, P < 0.001), with lower rates of preoperative intubation (11.43% vs. 20.90%, P = 0.047), emergent procedures (5.71% vs. 14.18%, P = 0.032), and operative mortality (5.71% vs. 13.43%, P = 0.036) compared to the non-PPIMM group. The median follow-up was 20.70 months (IQR 9.00-30.30) in the PPIMM group and 20.40 months (IQR 7.00-37.50) in the non-PPIMM group. Late mortality (3.57% vs. 4.48%, P = 0.702) and unplanned reoperation rates (P>0.05) were comparable between the PPIMM and non-PPIMM groups. Kaplan-Meier analysis showed a significant survival advantage for all-cause mortality in the PPIMM group (log-rank P = 0.038). Twelve neonates underwent immediate postnatal surgery, with no deaths or reoperations during a median follow-up of 13.00 months. PPIMM was a protective factor for operative mortality in the overall cohort, and prenatal diagnosis was protective within the non-PPIMM subgroup, while preoperative intubation, postoperative ECMO use, and elevated lactate level at 24 h postoperatively were risk factors. CONCLUSIONS:PPIMM was associated with earlier surgery, better preoperative status, and lower operative mortality in neonates with CCHD. In selected neonates, immediate postnatal surgery appeared feasible and was not associated with increased mortality. PPIMM and prenatal diagnosis were protective factors, whereas preoperative intubation, postoperative ECMO, and elevated lactate at 24 h postoperatively were risk factors for operative mortality. TRIAL REGISTRATION:Retrospectively registered at ClinicalTrials.gov (NCT06768008), 2025-01-03.

(1) Background: Functional pulmonary atresia (FPA) and pulmonary atresia with intact ventricular septum (PA/IVS) are rare neonatal congenital heart diseases with similar early clinical manifestations but distinct pathophysiology and treatment strategies, making early and accurate differentiation clinically important. (2) Methods: This single-center retrospective study included 43 neonates diagnosed with FPA (n = 12) or PA/IVS (n = 31) between December 2016 and March 2025. Echocardiographic parameters and clinical data were compared between groups, and receiver operating characteristic curve analysis was performed to evaluate the usefulness of selected echocardiographic indices for differentiation in clinical practice. (3) Results: Compared with PA/IVS, neonates with FPA exhibited significantly larger right atrial area, relatively better preserved right ventricular development, larger patent ductus arteriosus diameter, and lower peak tricuspid regurgitation velocity. Several parameters, including right atrial area and the right-to-left ventricular ratio, demonstrated strong between-group discrimination in this cohort. Clinically, most FPA neonates were managed conservatively with favorable outcomes, whereas PA/IVS neonates required surgical intervention and experienced higher perioperative mortality. (4) Conclusions: FPA and PA/IVS differ significantly in right heart morphology, hemodynamic characteristics, and management strategies. A comprehensive multi-parameter echocardiographic evaluation demonstrated discriminatory ability in this cohort, facilitating appropriate treatment decisions and potentially helping to avoid unnecessary high-risk surgical interventions.

Subarterial ventricular septal defect (sVSD) has a relatively high incidence in the Asian population. Surgical repair remains the preferred treatment. This research aims to report on the application of a modification of the surgical approach in the treatment of sVSD in adolescents and adults; (2) This retrospective cohort study included 74 consecutive patients aged 14 years or older with sVSD who underwent surgical repair between January 2016 and December 2024.Patients were divided into Group A (right axillary thoracotomy) and Group B (median sternotomy). Perioperative data and long-term follow-up outcomes were analyzed and compared; (3) Results: Baseline characteristics were comparable between groups. The right axillary thoracotomy group had longer cardiopulmonary bypass and aortic cross-clamp times but significantly lower postoperative drainage volumes. No significant differences were observed in mechanical ventilation time, intensive care unit stay, hospital length of stay, or pre-discharge ventricular function. During long-term follow-up, no deaths, reinterventions, residual shunts, or complete atrioventricular block occurred in either group; (4) Conclusions: In patients aged 14 years or older with sVSD, right axillary thoracotomy achieves perioperative and long-term outcomes comparable to conventional sternotomy, while offering advantages in reduced surgical trauma.

Major adverse cardiovascular events (MACE) remain common after surgery in neonates with critical congenital heart disease (CCHD). We aimed to identify the incidence and independent risk factors for postoperative MACE and develop a predictive nomogram for individualized risk assessment. This retrospective cohort included neonates undergoing cardiopulmonary bypass surgery for CCHD at Beijing Anzhen Hospital from January 2018 to December 2024. MACE was defined as a composite of mortality, cardiopulmonary resuscitation, unplanned reoperation, and extracorporeal membrane oxygenation (ECMO) support. Univariate and multivariable logistic regression analyses, together with least absolute shrinkage and selection operator (LASSO) regression, were used to identify independent predictors and to construct a nomogram. Model performance was evaluated by discrimination, calibration, and clinical utility. Among 302 neonates, 48 (15.89

OBJECTIVE:To assess the results after repair of atrioventricular septal defect (AVSD) in adult patients in our centre. METHODS:We assessed 168 patients who received AVSD repair at a single institution from 2013 to 2023. Relevant data were obtained from medical and surgical records, and focused on the early and long-term results. RESULTS:Median age at surgery was 36.4 (27.0-47.8) years. One hundred and forty-seven patients (87.5%) with partial AVSD, 15 patients (8.9%) with intermediate AVSD and six patients (3.6%) with complete AVSD. Left atrioventricular valve (LAVV) regurgitation was present in 160 patients; the LAVV clefts were closed completely in 155 patients (92.3%), of which 36 (21.4%) underwent mitral valve ring annuloplasty and 18 (10.7%) patients underwent additional implantation of an incomplete flexible band into the LAVV. There were two early deaths, with two deaths over a median follow-up of 36.0 (14.0-60.0) months. According to the follow-up outcomes, the heart measurement, pulmonary artery pressure and valve regurgitations recovered significantly. A total of 34 patients underwent 37 reoperations. The majority of subsequent reoperations were performed because of residual LAVV pathology (n = 6, 16.2%), and arrhythmias (n = 31, 91.2%). Competing risks analysis revealed that 10 years after the initial operation, 2.6% had died without reintervention, 23.3% had received reintervention and 74.7% were alive without reintervention. CONCLUSIONS:AVSD in adult patients can be done safely with low early mortality and good long-term out-comes. While the reoperation rate is minimal, it is important to closely monitor the significant occurrence of arrhythmias.

BackgroundPatients who underwent surgical repair of supravalvular aortic stenosis (SVAS) are at high risk for postoperative major adverse cardiovascular events (MACE). This study aimed to investigate the association between cardiopulmonary bypass (CPB) duration and MACE occurring during postoperative hospitalization or within 30 days post-surgery.MethodsPatients who underwent surgical repair of SVAS from 2002 to 2019 at Beijing Fuwai Hospital and Yunnan Fuwai Hospital were included in this study. Patients were stratified into “CPB duration >2 h” and “CPB duration ≤2 h” groups based on intraoperative CPB duration. Various statistical methodologies were employed to investigate the association between CPB duration and early postoperative MACE, including multivariate adjustment, propensity score adjustment, propensity score matching, and logistic regression based on propensity score weighting.Results297 participants were included and 164 were finally matched. In the propensity score-matched cohort, CPB duration was positively associated with early postoperative MACE (odds ratio = 18.13; 95% confidence interval 2.33–140.86; P = 0.006). Consistent results were obtained in the Inverse probability of treatment-weighted, standardized mortality ratio-weighted, pairwise algorithmic-weighted, and overlap-weighted models.ConclusionPatients with CPB duration >2 h were at a higher risk of early postoperative MACE compared to those with CPB duration ≤2 h. This emphasized the significance of minimizing CPB exposure for the prognosis of patients with SVAS.

Background:Paediatric patients who underwent surgery for mitral regurgitation (MR) have a high risk of recurrence or death; however, no prediction tool has been developed to risk-stratify this challenging subpopulation. Methods:In this multicentre cohort study, paediatric patients undergoing surgery for congenital MR in Shanghai Children's Medical Center in January 1st, 2009-December 31st, 2022 were included for analysis while those had a combination with infective endocarditis, anomalous left coronary artery from the pulmonary artery, rheumatic valvular disease, connective tissue disease, or single ventricle were excluded. A Cox regression model predictive of the primary outcome (a composite of mortality or mitral valve [MV] re-operation) was derived and converted to a point-based risk score. This score was externally validated in a cohort of patients undergoing MR surgeries between January 1st, 2009 and December, 31st, 2022 in eight independent hospitals in China. The Harrell's c index and Hosmer-Lemeshow test was used to quantify the discrimination and calibration of the risk score. Findings:In total, 2640 patients (female: 57% [n = 1505]) with a median age of 0.99 (IQR, 0.47-2.60) years were included. The primary outcome occurred in 262 patients (16.6%) over a median of 5.7-year follow-up in the derivation cohort (n = 1581; median age of 1.03 years [IQR, 0.47-2.67]) and in 130 (12.3%) over a median of 7.1-year follow-up in the validation cohort (n = 1059; median age of 0.93 years [IQR, 0.46-2.51]). The score variables included preoperative variables (age, the presence of primary MR, N-terminal pro-brain natriuretic peptide, left ventricular ejection fraction, and left atrium z score), perioperative changes in z scores of LA and left ventricular end-diastolic dimension, and the procedural variable (use of MV annuloplasty or not). This risk score, ranging from -22 to 10, yielded strong discrimination (Harrell's c index: 0.85, 95% CI, 0.83-0.87) and exhibited good calibration of postoperative 10-year primary outcome (Hosmer-Lemeshow; χ2 = 9.85; P = 0.33) in the derivation cohort, which maintained in the validation cohort (Harrell's c index: 0.86, 95% CI, 0.83-0.89; Hosmer-Lemeshow; χ2 = 23.80; P = 0.64). In addition, a simplified stratification of the score model (low-risk: -22 to -5, intermediate risk: -4 to 0, high risk: >0) showed good performances in predicting the primary outcome in both derivation and validation (Ps < 0.001). Interpretation:The scoring system represents a crucial step towards personalised management care for paediatric MR. However, this model has not been applied in clinical practice and require validation in large and diverse cohorts of patients. Further work should aim to incorporate other novel multi-modality metrics to optimise the PRIMARY score. Funding:Chinese National Natural Science Foundation of China, Science and Technology Commission of Shanghai Municipality, Science and Technology Project of Guizhou Province.

This study examines pediatric cardiomyopathies by analyzing genetic and clinical data from 55 patients (2021-2024) at Beijing Anzhen Hospital. Four subtypes were studied: dilated (DCM, 24), hypertrophic (HCM, 22), arrhythmogenic right ventricular (ARVC, 7), and restrictive (RCM, 2). Clinical data, imaging, labs, and family histories were collected, with whole-exome sequencing (WES) identifying disease-causing variants classified via ACMG guidelines. Statistical analysis revealed a median age of 11 years, a proportion of 58% male participants, and ethnic diversity (21 northern Han, 29 southern Han, 5 minorities). In the cohort, 13 cases had an LVEF below 35%. Pathogenic/likely pathogenic (P/LP) variants were found in 21.8% of the patients, and variants of uncertain significance (VUS) were present in 38.2%, with MYH7 (seven cases) and MYBPC3 (five) being the most common. The WES positivity rates varied, at 58.3% (DCM), 72.7% (HCM), and 33.3% (ARVC/RCM). DCM patients with P/LP/VUS variants showed better contractile function (Fractional Shortening: 29.0% vs. 16.5%, p = 0.008). Females in the DCM group had poorer cardiac function (lower LVEF, higher LVESd, lower cardiac output) compared to males, with more females (nine vs. three) exhibiting an LVEF < 35% (p = 0.041). No significant gender differences were observed in the HCM cases. These findings highlight genotype-phenotype correlations and underscore the need for early intervention in female DCM patients.

Background:The optimal timing for surgical intervention in the management of tetralogy remains a subject of ongoing debate. This investigation involved a retrospective analysis of neonatal patients who had received continuous treatment for tetralogy of Fallot (TOF) at our centre. The objective of this study was to examine the feasibility and necessity of treating TOF in the neonatal period. Methods:A retrospective analytical investigation was undertaken of 33 cases of neonates who underwent consecutive one-stage surgical repair for TOF at the Beijing Anzhen Hospital from June 2022 to December 2023. The subjects had an average gestational age of 38.1 weeks (range, 31.3-40.0 weeks) and a median age at surgery of 14.0 days [interquartile range (IQR): 9.75-20.0 days]. Their mean weight at the time of surgery was 3.25±0.53 kg, and their mean pulse blood oxygen saturation (SpO2) level was 93.0% (range, 80-98%). Results:The mean duration for which aortic cross-clamping was performed during the surgical procedure was 74.24 minutes, with a standard deviation of ±16.33 minutes. The average duration of cardiopulmonary bypass (CPB) was 118.85±17.94 minutes. The average duration of postoperative mechanical ventilation was 110.6 hours (±89.2 hours). The patients' average postoperative intensive care unit (ICU) stay was 10 days (range, 6.75-13.25 days), and their median postoperative stay was 14 days (IQR, 11.75-15.5 days). Postoperative complications were observed in two patients (6%), who required peritoneal dialysis catheter insertion at the bedside to manage fluid imbalances. No further interventions nor mortalities occurred during the follow-up period. The median follow-up period after surgery was 201 days (range, 51-417 days). Conclusions:The curative effect of TOF repair in the neonatal period is well-documented, with its ability to prevent the effects of pulmonary artery development and collateral circulation formation. Consequently, we suggest considering TOF repair during the neonatal period.

This study investigates FLNC mutations in Chinese cardiomyopathy patients. Background: Inherited cardiomyopathies, including dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC) are major heart failure causes. FLNC, critical for muscle structure, is implicated in myofibrillar myopathy and isolated DCM (3–4% cases) with ventricular arrhythmias. Missense variants are linked to HCM and protein aggregation. A cohort of 25 patients with pathogenic/likely pathogenic FLNC mutations (2022–2025, Beijing Anzhen Hospital) underwent whole-exome sequencing (WES) using IDT kit 1.0/Hiseq 4000. Variants were classified via the American College of Medical Genetics and Genomics (ACMG) guidelines. Clinical data (echocardiography, CMR, labs) and follow-up data (prognosis, meds, and family history) were collected. The statistics used SPSS (p < 0.05). The mean age was 38 ± 14.6 years (13 males). There were 25 FLNC mutations: 12 single nucleotide polymorphisms (SNPs), 5 deletions, 2 duplications, and 3 deletion-insertions, classified as 6 pathogenic, 16 likely pathogenic, and 3 variants of uncertain significance (VUS). Diagnoses: 24% dilated cardiomyopathy (DCM), 8% hypertrophic cardiomyopathy (HCM), and 4% left ventricular non-compaction. Nonsense mutation carriers exhibited significantly higher tricuspid regurgitation prevalence compared to frameshift mutation carriers (6/9 vs. 2/10; p = 0.04). Echocardiography revealed reduced left ventricular ejection fraction (LVEF) (41.5 ± 14.1%), with statistically significant differences in fractional shortening (p = 0.024) and aortic root diameter (p = 0.028). Pedigree analysis confirmed that a frameshift mutation (LP) co-segregated with familial DCM and was associated with severe phenotypes, including sudden cardiac death. Furthermore, nonsense FLNC mutations correlated with increased tricuspid regurgitation severity, smaller aortic root dimensions, and reduced pulmonary artery flow velocity.

Objective: This study aimed to investigate the trends in cardiac index (CI) and regional tissue oxygen saturation during the perioperative period in neonates undergoing cardiac surgery and evaluate the impact of these changes on postoperative outcomes. Methods: This prospective observational study included neonates with congenital heart disease who underwent corrective surgery. The CI was measured at different stages of the perioperative period using electrical velocimetry, while cerebral and somatic oxygen saturation levels were assessed using near-infrared spectroscopy (NIRS). The patients were divided into two groups according to the duration of mechanical ventilation, and the changes in these parameters were explored in the perioperative period between the two groups. Results: A total of 32 neonates who underwent corrective cardiac surgery were included, with eight patients categorized in the prolonged mechanical ventilation (PMV) group. Heart function was observed to reach its lowest point within the first 24 hours post-surgery, followed by a gradual recovery. Neonates in the PMV group exhibited lower preoperative CI values (3.0 vs. 3.6; p < 0.05), longer postoperative intensive care unit (ICU) length of stay (10.5 vs. 7.0; p < 0.05), and lower CI values 48 hours post-surgery (2.26 vs. 2.94; p < 0.05). Conclusions: This prospective pilot study provides preliminary evidence that delayed recovery of CI and persistent tissue hypoperfusion in the first 48 postoperative hours are associated with PMV in neonates undergoing cardiac surgery.

Objective:To investigate the relationship between different genotypes and clinical phenotypes within a pediatric hypertrophic cardiomyopathy (HCM) population and explore the impact of various genotypes on patient outcomes. Methods:This study involved 82 pediatric HCM patients. A comprehensive review was conducted of echocardiography results, second-generation whole-exome sequencing (WES) findings, and conditions warranting pathologic examination or surgical intervention. Results:WES was performed in 82 children, of whom 65 (79.3%) and pathogenic or likely pathogenic (P/LP) variants. The median patient age was 6.4 years (interquartile range, 3.8- 11.4 years), 45 (54.9%) were male, and 15 (18.3%) had a definitive family history of HCM. The RASopathy group was diagnosed at a significantly younger age compared to the sarcomeric variant HCM group (P = .0017). Female patients were more common (P = .0001) and the rates of right ventricular outflow tract obstruction (P = .026) and biventricular outflow tract obstruction (P = .026) were higher in the RASopathy group. The freedom from early postoperative reobstruction was 83.3% (95% confidence interval [CI], 64.7%-100%) in the no P/LP variant HCM group and 87% (95% CI, 74.2%-100%) in the RASopathy group. The 7-year freedom from reobstruction was 76.3% (95% CI, 59.8%-97.2%). A statistically significant difference in the incidence of left ventricular outflow tract reobstruction was observed between the sarcomeric HCM group and the RASopathy group (P = .025). Linear regression analysis demonstrated a significant association between age and interventricular septal thickness in the RASopathy group (P = .008; r = 0.48). Conclusions:Identifying pathogenic genes in children with HCM enables the assessment of genotype-cardiac phenotype relationships and can guide treatment strategy selection and prognosis, particularly for children with RASopathies.

Aims:Patients with pulmonary arterial hypertension (PAH) after congenital heart disease (CHD) correction (PAH-CHDcor) are becoming the most prevalent and rapidly expanding group within PAH associated with CHD (PAH-CHD), yet data on its presentation, long-term outcomes and prognostic variables are lacking. We report on a large paediatric and adult population with PAH-CHDcor, focusing on clinical presentation and long-term survival. Methods and results:We studied 127 PAH-CHDcor patients (mean age 21.5 ± 10.5 years; 74.8% female) diagnosed via cardiac catheterization from 2006 to 2022. The majority had post-tricuspid shunts (73.2%), with combined pre- and post-tricuspid (11.8%) and complex shunts (6.3%) less frequent. Pulmonary vascular resistance (PVR) at diagnosis averaged 13.2 ± 8.9 WU. Diagnosis occurred late (>5 years post-repair) in 43.3% of patients. Median follow-up was 4.0 (IQR 2.0-6.4) years. Kaplan-Meier estimates for survival at 3 and 5 years were 93.3% and 89.6%, respectively. Higher baseline PVR predicted mortality (HR 1.10, 95% CI 1.03-1.16, P = 0.003) and was the strongest multivariable predictor of a composite endpoint (death, heart failure hospitalization, or parenteral prostacyclin initiation; HR 1.11, 95% CI 1.05-1.18, P < 0.001). An exploratory application of a paediatric prognostic score (GOSH) showed excellent discriminative power for mortality (AUC 0.867) and the composite endpoint (AUC 0.856) at 5 years in this independent cohort. Conclusion:Mortality and morbidity are considerable in patients with PAH-CHDcor despite modern management. Regular, careful screening of all patients with repaired CHD is essential to ensure early diagnosis and risk stratification, with proactive evidence-based treatment to improve outcomes in this expanding population.