Bone density, structure, and estimated strength in children with congenital heart disease. A CHAMPS* cohort study.

Cardiac catheterization during extracorporeal membrane oxygenation (ECMO) in pediatric patients with congenital heart disease is increasingly used to evaluate residual lesions and perform transcatheter interventions. However, evidence from Latin American populations remains scarce. We conducted a retrospective, single-center cohort study including patients under 18 years who underwent cardiac catheterization while on ECMO support between January 2012 and December 2024. Demographic and procedural variables were collected. Outcomes included successful ECMO decannulation, procedure-related complications, and survival to hospital discharge. Among 140 pediatric patients supported with ECMO, 36% (n = 51) underwent cardiac catheterization, totaling 59 procedures. Most patients (92%) had complex congenital heart disease, with a predominance of single-ventricle physiology. In 64% of procedures, one or more transcatheter interventions were performed, most frequently balloon angioplasty or stenting of the pulmonary arteries. The median time from ECMO cannulation to catheterization was 1.25 days; 67% of procedures were performed within the first 24 h. Overall survival to hospital discharge was 43%. Major complications were infrequent (3%), and no procedure-related mortality was observed. Cardiac catheterization during ECMO was feasible and safe in this cohort. Most procedures were performed early and included transcatheter interventions. Although multivariable analysis did not identify independent predictors of survival, catheterization provided essential diagnostic and therapeutic information that influenced management. These findings support its role in selected pediatric patients supported with ECMO.

This study aimed to evaluate the characteristics, difficulties, and outcomes of patients who underwent transcatheter ablation treatment due to arrhythmia with a diagnosis of CHD. A total of 166 patients (189 substrates) with CHD who underwent catheter ablation between November 2013 and 2023 were evaluated retrospectively. EnSite™ (St Jude Medical Inc., St Paul, MN, USA) was used in all patients. The mean age was 14.8 ± 7.9 years (2.9-43 years). The most common CHD's were Ebstein anomaly (n: 40), tetralogy of Fallot (n: 31), atrial septal defect (n: 25), ventricular septal defect (n: 22), great artery transposition (D/L TGA, n: 12), and complex CHD in single ventricle physiology (n: 9). The most common arrhythmia mechanisms were Wolf-Parkinson-White syndrome (WPW, n: 50), intraatrial reentrant tachycardia (IART, n: 39), typical atrioventricular nodal reentrant tachycardia (AVNRT, n: 37), and ventricular tachycardia-ventricular extrasystoles (VT/VES, n: 23). There was more than one arrhythmia in 23 patients and multiple manifest accessory pathways in 10 patients. The average procedure time was 174 ± 69.3 minutes, and the average fluoro time was 8.3 minutes. While successful ablation was performed in 176/189 (acute success 93.1%) substrates, the procedure was unsuccessful in five patients and suboptimal in eight patients. Recurrence was observed in 11 patients (6.4%) during a mean follow-up period of 49.2 ± 30.1 months. A second ablation was performed on 13 patients. Acute success was achieved in all except one patient. A total of 11 patients are being followed up with medical treatment. Despite the complex anatomy, age, operations, and limited vascular access possibilities in patients diagnosed with CHD, transcatheter ablation treatment with advances in electrophysiology, the introduction of different energy types, special ablation catheters, multipolar mapping catheters, and 3D nonfluoroscopic mapping systems seems to be a safe and effective option.

Background/Objectives: Children with complex congenital heart disease (CHD) often exhibit lower levels of physical activity, but whether chronic cyanosis exposure is associated with activity participation is unclear. This cross-sectional study investigated whether the duration of cyanosis prior to surgical correction was associated with submaximal or maximal exercise tolerance or daily habitual physical activity. Methods: Thirty-six children (10–17 years) with transposition of the great arteries (TGA), tetralogy of Fallot (TOF), or Fontan physiology were tested with cardiopulmonary exercise testing (Bruce treadmill protocol) and 7 days of accelerometry. Cyanosis duration from birth to surgery was calculated. Results: Only 17% of participants were meeting daily physical activity recommendations. Age and exercise time were the strongest predictors of activity behavior. Children with <2 months of cyanosis had peak VO2 comparable with normative data (105% predicted), while those with longer durations of exposure had reduced submaximal and peak capacity (p < 0.001). The direct effect of days exposed to cyanosis on daily physical activity was not statistically significant (p = 0.55) but the indirect effect via submaximal energy consumption was statistically significant (p = 0.05), suggesting that a longer duration of cyanosis exposure negatively impacted physical activity through its detrimental effect on submaximal exercise capacity. Conclusions: These findings suggest that children with prolonged cyanosis exposure are at higher risk for reduced submaximal exercise capacity, which has a negative impact on daily physical activity participation. Age and exercise test duration can accurately estimate daily physical activity behaviors. Interventions to support these patients require investigation due to their increased risk for morbidities associated with inactive lifestyles.

Cardiopulmonary exercise testing (CPET) is a cornerstone of functional assessment in congenital heart disease (CHD), yet there are additional important contributors to exercise limitation that are not directly measured by CPET. This narrative review highlights the complementary utility of spirometry, body composition analysis, and evaluation of handgrip strength in augmenting our understanding of functional capacity in CHD. Spirometry provides insights into restrictive lung disease patterns prevalent in post-surgical CHD populations; body composition analysis, especially lean mass assessment, can reveal sarcopenia not apparent using BMI alone; and handgrip strength serves as a validated surrogate for overall muscular function and frailty. We propose routine integration of all three testing techniques as complements to CPET protocols to enhance clinical assessment, guide rehabilitation, and support prognostication in pediatric CHD patients. This review advocates for broader adoption and standardization of these measures in clinical settings to improve risk stratification and long-term outcomes.

Single incision minimally invasive congenital heart surgery: Insights into program development and outcome.

Pulmonary arterial hypertension (PAH) is a common complication of congenital heart disease (CHD). PAH following CHD repair (repaired PAH-CHD) is an emerging population with increased morbidity and mortality. Existing PAH risk scores are unvalidated in young children with this condition. A 20-year cohort from the UK National Paediatric PH Service was studied to describe peri-operative characteristics and outcomes in children with repaired PAH-CHD and to create a tailored risk stratification tool. This tool was externally validated using the national Spanish PH (REHIPED) registry. The study included 178 patients (median age 3.2 years, 58.4% female), with 73.0% referred post-CHD repair. Complex CHD was present in 61.2%, and 48.9% had both pre- and post-tricuspid shunts. Down syndrome was noted in 33.1%. At initial post-operative assessment, 53.1% exhibited symptoms like breathlessness, 30.9% had moderate-severe right ventricular dilatation, and 23.7% showed right ventricular systolic impairment. During a median six-year follow-up of 156 patients, 19.2% died and 3.2% required lung transplantation, with survival rates at one, five, and ten years being 94.7%, 85.9%, and 80.1%, respectively. The developed risk score, based on clinical variables including absence of pre-operative PH, breathlessness, right ventricular dysfunction, and pulmonary vascular resistance index, showed good performance and calibration in predicting outcomes. In this national cohort of children with repaired PAH-CHD, mortality is significant. This novel, simple risk score has been developed and validated specifically for children with repaired PAH-CHD, useful at the time of post-operative assessment to predict outcome and direct management.

A 5-year-old female presented to the pediatric emergency department from a community emergency department for persistent hypoxia in the setting of inhalational exposure due to a house fire. The patient had refractory hypoxia despite routine interventions in the referring emergency department. After a thorough physical exam, and further lab work-up, it was determined that the child had complex congenital heart disease that was yet undiagnosed, and her hypoxia was unrelated to her inhalational exposure. This case demonstrates the risk of anchoring bias and premature closure in the emergency department. By maintaining a broad differential diagnosis, this patient received the appropriate care for her complex congenital heart condition. Providers should self-evaluate for early closure and anchoring bias to minimize morbidity and mortality risk to patients. Through an understanding of adult learning and thought-processing patterns, providers can assess their biases and maintain broad differential diagnoses when presented with information contrary to their first impression.

Our objective was to establish a multicentre foetal-to-neonatal magnetic resonance (MR) neuroimaging programme for neonates undergoing surgery for complex congenital heart disease (CHD). We assessed structural and volumetric MRI findings at different timepoints in various types of CHD and evaluated neurodevelopmental outcomes at one year of age. Additionally, we analysed the feasibility, challenges and limitations of implementing this MR neuroimaging programme. In this prospective, multicentre observational study, we examined brain development and growth in infants with complex CHD requiring neonatal cardiac surgery. Brain MRI was performed at multiple timepoints: at the 32ndweek of gestation, after birth (both before and after stage I surgery), and before stage II surgery in single-ventricle CHD. We analysed and compared cardiac diagnoses, treatment approaches, structural and volumetric brain MRI findings and neurodevelopmental outcomes at one year of age (assessed using the Bayley III scale) with those of healthy controls. Between April 2020 and September 2023, 81 patients and 15 healthy controls underwent at least one MRI. Cardiac diagnoses were biventricular CHD (66.7%), single-ventricle CHD (25.9%) and borderline left ventricle CHD (7.4%). New structural cerebral lesions were found before stage I or after stage I including white matter injury in 3.8% and 8.7%, respectively, ischaemic cerebral lesions in 11.5 and 11.6%, intraventricular haemorrhages in 7.7% and 7.2%, and subdural haemorrhages in 33.6% and 26.1%. Total brain volume at 32.6 (interquartile range [IQR]: 31.3-33.3) gestational weeks was 228.9 ml (213.1-241.2) in biventricular CHD, 194.4 ml (165.3-223.6) in single-ventricle CHD and 196.4 ml (186.4-235.2) in normal healthy controls. After birth, at 6 days (3-16) of life total brain volume was 337.1 ml (310.3-350.2) in biventricular CHD, 331.6 ml (305.9-350.7) in single-ventricle CHD and 406.8 ml (389.9-438.7) in normal healthy controls. After stage I, at 26.5 days (18.3-40.8) total brain volume was 367.7 ml (341.8-385.5) in biventricular CHD, 353.6 ml (338.2-375.7) in single-ventricle CHD and 514.1 ml (482.9-554.6) at 116 days (94.5-118.5) in patients with single-ventricle CHD. At 12.1 months of age, neurodevelopmental performance determined by the Bayley III scale (mean ± SD [standard deviation]) was lower for patients with single-ventricle CHD (cognitive composite score [CCS]: 92.9 ± 13.1; language composite score [LCS]: 88.5 ± 12.0; motor composite score [MCS]: 85.6 ± 14.5) than in patients with biventricular CHD (CCS: 101.2 ± 11.1; LCS: 95.7 ± 13.1; MCS: 87.6 ± 18.0) or in healthy controls (CCS: 113.3 ± 5.6; LCS: 102.3 ± 7.9; MCS: 100.7 ± 8.2). Feasibility for performing cerebral MRI was limited due to maternal/patient safety reasons and further logistical infrastructural reasons. Structural cerebral lesions were found at various timepoints in both biventricular and single-ventricle CHD during foetal-to-neonatal serial cerebral MRI. Compared to healthy controls, total brain volume was reduced in patients with complex CHD, and neurodevelopmental outcomes at one year of age were mildly to moderately impaired. Several patient-related and infrastructural challenges limit the feasibility of a routine magnetic resonance neuroimaging programme, necessitating further efforts to optimise its implementation into routine clinical practice in the future. ClinicalTrials.govNCT04233775.

Objectives: This study aimed to evaluate the clinical, microbiological, echocardiographic, and surgical characteristics of pediatric and young adult patients diagnosed with definite infective endocarditis (IE) at a tertiary pediatric cardiology center. Methods: In this retrospective cohort study, we included 21 patients diagnosed with IE between January 2019 and December 2024, according to the Modified Duke Criteria. Demographic, clinical, microbiological, and echocardiographic data were analyzed. Outcomes and complications, including the need for surgery and mortality, were recorded. Patients with complex congenital heart disease were included even beyond 18 years of age due to ongoing pediatric cardiology follow-up. Results: The median age at diagnosis was 15 years (range: 4 months–35 years), and 85.7% had congenital heart disease. Blood cultures were positive in 61.9% of patients, with Candida species being the most common pathogens (33.3%). Vegetations were detected in 85.7% of patients, primarily affecting the pulmonary and aortic valves. Surgical intervention was required in 33.3% of cases. In-hospital mortality was 23.8%, with Candida -related IE accounting for 60% of deaths. Culture-negative IE occurred in 38.1% of cases, often associated with prior antibiotic use. One patient experienced a relapse within six months. Conclusion: Infective endocarditis in children and young adults remains a serious condition with high morbidity and mortality, especially among those with complex congenital heart disease and fungal infections. Candida -related IE is associated with particularly poor outcomes, highlighting the need for early diagnosis, aggressive treatment, and vigilant follow-up in high-risk populations.

Neurodevelopmental impairments in congenital heart disease (CHD) are the most frequent long-term morbidity. Adverse neurodevelopmental outcomes may start in the prenatal period. Maternal mental health may be a potentially modifiable risk factor for the optimisation of neurodevelopment in CHD. We propose to assess the impact of prenatal maternal mental health on 1-year neurodevelopmental outcomes in complex CHD. Neuro-Moms CHD is a national multi-centre, prospective study of prenatal maternal mental health and neurodevelopmental outcomes in children with complex CHD who undergo neonatal open-heart surgery. Participants (n=87 mother-child dyads) will be recruited from five major French paediatric cardiology centres (Necker Children's Hospital in Paris, Bordeaux Cardiology Hospital, Marseille Children's Hospital, Montpellier University Hospital and Saint-Pierre Institute). Expecting women who receive a prenatal diagnosis of fetal complex cyanotic CHD that requires a neonatal open-heart surgery for the newborn are eligible to participate. They will complete self-reports on mental health, anxiety, depression and coping skills and will participate in a semi-structured psychological interview. Mothers will provide information on medical, sociodemographic and lifestyle factors. They will be enrolled during the third trimester of pregnancy and will participate at three time points: prenatal, T1; after the newborn's cardiac surgery, T2; and between 12 and 18 months after birth of the child with CHD, T3. Children with CHD will undergo a standardised neurodevelopmental assessment when they turn 12-18 months old. The father or co-parent of the child with CHD will also participate in T1 and will complete mental health self-reports. We will use a structural equation model to estimate simultaneously the relationships among maternal mental health, prenatal factors and child neurodevelopment outcomes. This study is sponsored by the French National Institute of Health and Medical Research. It was approved by the Ethics Committee on 5 November 2024 and is registered in a public trials registry (NCT06711666). Neuro-Moms CHD targets a public health question with important societal implications. Results are expected to be broadly communicated with the scientific community and the lay public. Dissemination of findings will be in the form of scientific articles in peer-reviewed journals and presentations at conferences. Any publication or communication will comply with the international recommendations: 'Recommendations for the Conduct, Reporting, Editing, and Publication of Scholarly work in Medical Journals' (http://www.icmje.org/recommendations). All participants will give written informed consent or assent to participate. The anonymised data to be collected in this study will be available within the manuscripts published. NCT06711666; pre-results.

Transhepatic approach for cardiac implantable electronic device placement in adults with complex congenital heart disease: Case series and literature review

Thromboembolism in pediatric patients with congenital heart disease (CHD) is a commonly encountered morbidity. Feeding intolerance is also commonly encountered in patients with CHD and has a direct effect on thromboembolism treatment options, as the site of gastrointestinal absorption for each agent varies. Historically, standard anticoagulation options included unfractionated heparin, enoxaparin, or vitamin K antagonists such as warfarin. Non-vitamin K oral anticoagulants, such as rivaroxaban, have become more widely used in pediatrics since obtaining Food and Drug Administration approval, but are often considered poor options for patients receiving post-pyloric enteral feeds. Adult pharmacokinetic data suggest significant variations in volume of distribution and maximum serum concentrations based on the site of administration within the gastrointestinal tract. We report 3 patients with complex CHD and significant feeding intolerance requiring therapeutic anticoagulation who successfully received rivaroxaban through a post-pyloric feeding tube. When using therapeutic serum concentration monitoring, all 4 serum concentrations were within the reported reference range, and 3 of 4 were within the age-related geometric coefficient of variation. Rivaroxaban appears to have adequate post-pyloric absorption in pediatric patients with CHD based on serum concentration monitoring.

Congenital heart disease (CHD) is a leading cause of infant morbidity and mortality in China, creating a significant healthcare burden. While prenatal diagnosis via fetal echocardiography is routine, it is prone to missed diagnoses, highlighting the need to explore genetic mechanisms for improved diagnostics and management. This retrospective study analyzed 412 fetuses diagnosed with CHD through echocardiography between December 2021 and March 2024. All parents received prenatal genetic counseling and provided informed consent for ultrasound-guided procedures. Genetic testing included Medium-Coverage Whole Genome Sequencing (CMA-seq) and Clinical Exome Sequencing (CES). CHD cases were stratified into simple or complex forms according to established pediatric cardiology criteria. Pathogenic variants were detected with CMA-seq and CES. Genetic abnormalities were found in 36.4% (150/412) of fetuses (P/LP + VUS), while the P/LP-only diagnostic yield was 19.4% (80/412). Detection was higher in non-isolated CHD cases (47.3%) compared to isolated cases (31.3%). Aneuploidies such as Trisomy 21 and 18 were commonly detected. Pathogenic copy-number variants (CNVs) were most frequent in right- and left-ventricular outflow tract obstructions. CES enhanced the detection of single nucleotide variants, particularly in complex CHD. Integrating CMA-seq and CES enhances prenatal CHD diagnosis by uncovering genetic etiologies, improving accuracy, and supporting personalized management strategies.

Catheter Ablation of Ventricular Arrhythmias in Patients With Congenital Heart Diseases: A Nationwide Prospective Study.

Association Between Congenital Heart Disease Complexity, Mental Health Conditions and Opioid Use Disorder.

Vascular endothelial growth factor (VEGF) is a factor that is responsible for cell proliferation, growth of vascular endothelial cells, and angiogenesis. Changes in the level of this factor are associated with the pathology of structural disorders such as CHD. This systematic study assesses previous studies in order to find the VEGF influences on congenital heart disorders. This systematic review was written based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) criteria, and the principle of non-bias was respected. All the articles from 2014 to 2024 were extracted from Web of Science, PubMed, and Scopus databases. We investigated the role of VEGF in the pathology of cardiovascular structural disorders, the therapeutic and diagnostic effects of VEGF, and related factors that are influenced by this factor. Studies assessed based on PRISMA search steps and 22 were included in our study. Any disturbance in the production and functioning of VEGF is known as a genetic disorder in tetralogy of Fallot (TOF). VEGF caused abnormal elongation of the heart tubes, as well as disproportionate growth of cardiovascular tissue just before full formation. The increase of Hypoxia-inducible factor (HIF) with the increase of VEGF function precedes the development of the fetal heart. HIF also mediates endothelial formation through endothelial nitric oxide synthases (eNOS); HIF in children with cyanotic CHD (CCHD) and acyanotic CHD (ACHD) is significantly higher than in the control group, and its value is higher in complex CHD children than in the other groups. EGFR, inducible NOS (iNOS), and ET-1 were more in ACHD than in CCHD, and their amounts showed a positive correlation with HIF. The increase in the level of VEGF and HIF before the completion of the heart tissue is the main cause of CHD pathology; after the completion of the heart tissue, these factors help in the regeneration of the heart tissue. The regulation of VEGF and HIF levels during the fetal period is of great importance for the diagnosis and pathological aspect of CHD.

Congenital heart disease is linked to substantial variability in neurodevelopmental outcomes, with sex being a key contributing factor. Compared with females, male congenital heart disease infants often show greater impairments in motor, cognitive, and language development. However, studies on sex differences in early brain development among congenital heart disease patients remain limited. To fill these gaps, this study included 79 infants with complex congenital heart disease (42 males, 37 females) and 87 healthy controls (47 males, 40 females), collecting magnetic resonance imaging data, clinical information, and neurodevelopmental assessments. We examined sex-specific effects on global and regional brain development in congenital heart disease infants aged 1 to 2 yr using imaging and statistical analysis. Male congenital heart disease infants showed global brain volume reduction and regional cortical delays, including increased cortical thickness and gray matter volume. In contrast, female congenital heart disease infants had no significant global volume change but exhibited localized structural abnormalities, such as reduced surface area and increased cortical thickness. Notably, reduced global brain volume in congenital heart disease males was associated with poorer gross motor skills. Distinct sex differences in brain development exist among congenital heart disease infants during early life. Recognizing these differences is critical for developing sex-specific treatment and neuroprotective strategies.

The incidence of congenital heart disease (CHD) is approximately 6-7 per 1,000 newborns. With advanced diagnostic, medical, and surgical methods, survival of CHD is increasing, as is the number of people living with CHD. Echocardiography is a useful modality in non-invasive imaging, whereas magnetic resonance imaging (MRI), cardiac MR (CMR), cardiac computed tomography (CT), and CT angiography (CTA) are increasingly gaining ground in congenital cardiac imaging with developing technology. Considering the limited postoperative use of echocardiography, these techniques have assumed vital roles with the increasing population of CHD in children and adults. CMR and cardiac CT can complement the information obtained with echocardiography and invasive cardiac catheterization and can sometimes provide more detail. In postoperative imaging of CHD, CMR allows an evaluation of anatomy, especially with spin echo MRI techniques, whereas cine MRI, created in gradient echo sequences, allows functional data to be obtained. Phase contrast CMR data provides information on flow direction and flow rate, allowing accurate measurement of regurgitation and shunt volume. In addition, in post-gadolinium imaging, data such as on MR angiography, myocardial perfusion, and fibrosis can be obtained with CMR. Cardiac CT and CTA provide great advantages, especially in newborns, by almost completely reducing movement and respiratory artifacts through capabilities such as high spatial and temporal resolution, fast acquisition, and short acquisition time. Three-dimensional reformatted images with contrast-enhanced CMR or cardiac CT/CTA provide excellent visualization of vascular structures in complex CHDs. Coronary imaging can be viewed more easily with CT imaging. This article reviews the literature to provide an overview of the diagnostic value, relative advantages, and overall evaluation of CMR and cardiac CT examinations in the diagnosis and postoperative follow-up of CHD.

To describe causes of death in children with congenital or acquired heart disease (CAHD) and provide updated mortality data across CAHD groups. Prospective observational cohort study (2010-2024). Tertiary paediatric cardiac care centre. All children with CAHD who died during the study period were classified into congenital heart diseases (CHD), cardiomyopathies (CM) and pulmonary hypertension (PH). Causes of death and demographic characteristics were reported for the entire cohort and by the CAHD group. Among 1137 deaths, 244 (21.5%) occurred under compassionate care. The main cohort consisted of 868 (76.3%) children with CHD, 170 (14.9%) with CM and 50 (4.4%) with PH. The median age at death was 2.6 (IQR 14.2) months. Comorbidities and prematurity were observed in 438 (38.6%) and 348 (30.6%) cases, respectively, with no difference among groups. After excluding compassionate care, heart failure was the leading cause of death affecting 359 (40.2%) children, followed by PH crisis in 105 (11.8%) and infections in 101 (11.4%). In the CHD group, severe complexity was predominant in 516 (59.5%) cases, with functionally univentricular heart (172 (33.3%) cases) being the most common subtype. Surgical deaths constituted 625 (72%) cases, with 64 (7.4%) requiring extracorporeal membrane oxygenation (ECMO) and 69 (0.8%) listed for heart transplant. In the CM group, the dilated CM subtype was predominant, accounting for 78 (45.9%) cases, with 12 (7.1%) requiring ECMO. For the PH group, pulmonary arterial hypertension was observed in 34 (68%) cases, with 9 (18%) requiring ECMO. Heart failure is the leading cause of death in CAHD, followed by PH, with most deaths occurring within the first year of life, particularly in complex CHD and premature infants.