Scimitar syndrome is a rare CHD involving anomalous pulmonary venous drainage and lung hypoplasia. Severe cases complicate single ventricle palliation, prompting a shift to transplantation. Our case series highlights sub...Scimitar syndrome is a rare CHD involving anomalous pulmonary venous drainage and lung hypoplasia. Severe cases complicate single ventricle palliation, prompting a shift to transplantation. Our case series highlights suboptimal outcomes despite this shift, emphasising the need for further research to optimise treatment in this challenging population.
Variations in venous circulation can affect either the superior or inferior vena cava, with diagnoses often being incidental and presenting with highly variable symptoms. This rare case discusses the detection and invest...Variations in venous circulation can affect either the superior or inferior vena cava, with diagnoses often being incidental and presenting with highly variable symptoms. This rare case discusses the detection and investigation of bilateral superior vena cava agenesis in an asymptomatic patient.
Jervell and Lange-Nielsen syndrome is a rare inherited disorder characterised by sensorineural hearing loss and a prolonged corrected QT interval, predisposing to malignant arrhythmias. We describe two adult sisters diag...Jervell and Lange-Nielsen syndrome is a rare inherited disorder characterised by sensorineural hearing loss and a prolonged corrected QT interval, predisposing to malignant arrhythmias. We describe two adult sisters diagnosed after recurrent syncope. Genetic testing confirmed a homozygous KCNQ1 mutation. Awareness of this condition, even in adulthood, is essential to ensure diagnosis, appropriate treatment, and prevention of sudden cardiac death.
BACKGROUND: Dilated cardiomyopathy is a rare but severe myocardial disease in the paediatric population, often leading to heart failure, heart transplantation, or sudden cardiac death. Genetic factors are a major contrib...BACKGROUND: Dilated cardiomyopathy is a rare but severe myocardial disease in the paediatric population, often leading to heart failure, heart transplantation, or sudden cardiac death. Genetic factors are a major contributor to childhood dilated cardiomyopathy. Recently, biallelic variants in the gene have been implicated in a novel syndromic form of early-onset dilated cardiomyopathy, characterised by cardiac dysfunction alongside variable ectodermal features. CASE PRESENTATION: We report a 4-year-old boy who presented with decompensated heart failure and echocardiographic findings consistent with dilated cardiomyopathy. Syndromic features included sparse, dry hair, high anterior hairline, broad nasal bridge, and pointed teeth. Genetic analysis revealed a novel homozygous frameshift variant in the gene (c.2368_2375dup; p. Pro793Glyfs*32), classified as pathogenic. The clinical course was complicated by recurrent ventricular arrhythmias and ultimately sudden cardiac death. CONCLUSION: -related cardiomyopathy should be considered in children with early-onset dilated cardiomyopathy and syndromic features. Early diagnosis is critical for clinical management, arrhythmia surveillance, and appropriate family counselling.
BACKGROUND: Right ventricular dysfunction is a major determinant of long-term outcomes after tetralogy of Fallot repair, particularly in the presence of chronic pulmonary regurgitation. Strain analysis may detect early r...BACKGROUND: Right ventricular dysfunction is a major determinant of long-term outcomes after tetralogy of Fallot repair, particularly in the presence of chronic pulmonary regurgitation. Strain analysis may detect early right ventricular dysfunction more sensitively than conventional echocardiographic parameters. METHODS: This retrospective single-centre study included 63 patients after tetralogy of Fallot repair who underwent postoperative echocardiographic evaluation during mid-term follow-up. Right ventricular function was assessed using tricuspid annular plane systolic excursion, right ventricular systolic velocity, fractional area change, and right ventricular free-wall longitudinal strain. Pulmonary regurgitation severity was evaluated by colour Doppler, with pulmonary regurgitation jet width expressed as a ratio relative to the pulmonary annulus diameter. Associations between pulmonary regurgitation severity and right ventricular function were analysed using correlation and multivariable linear regression. RESULTS: Conventional right ventricular systolic parameters were largely preserved, whereas right ventricular free-wall longitudinal strain worsened with increasing pulmonary regurgitation severity ( = 0.036). Pulmonary regurgitation jet width emerged as the sole independently associated determinant of impaired right ventricular strain ( = 0.132, = 0.038). QRS duration was not independently associated. Pulmonary regurgitation jet width showed moderate discriminatory ability for impaired right ventricular strain (area under the curve = 0.67). CONCLUSIONS: Right ventricular free-wall longitudinal strain is a sensitive marker of pulmonary regurgitation-related right ventricular dysfunction after tetralogy of Fallot repair. Pulmonary regurgitation jet width, expressed relative to the pulmonary annulus, appears to be the dominant determinant of right ventricular mechanical impairment and may complement conventional assessment during follow-up.
A previously asymptomatic 7-year-old boy with Duchenne muscular dystrophy unexpectedly developed sudden cardiac arrest with no preceding illness. An automated external defibrillator confirmed the presence of ventricular...A previously asymptomatic 7-year-old boy with Duchenne muscular dystrophy unexpectedly developed sudden cardiac arrest with no preceding illness. An automated external defibrillator confirmed the presence of ventricular fibrillation. Cardiac MRI showed prominent myocardial fibrosis with no evidence of acute inflammation. Whole exome sequence revealed no associated pathological variance for lethal ventricular arrhythmias. Life-threatening ventricular fibrillation can occur in young patients with Duchenne muscular dystrophy.
BACKGROUND: Although acute type A aortic dissection (ATAAD) is a recognised complication of Turner syndrome, population-level data describing its prevalence and outcomes remain limited. METHODS: We queried the National I...BACKGROUND: Although acute type A aortic dissection (ATAAD) is a recognised complication of Turner syndrome, population-level data describing its prevalence and outcomes remain limited. METHODS: We queried the National Inpatient Sample (2002-2020) and generated three groups: TS + ATAAD+, TS + ATAAD-, and TS-ATAAD+ in our retrospective observational cohort study. Primary outcomes were ATAAD hospital admission rate and in-hospital mortality; secondary outcomes included length of stay. Sampling weights were applied to all analyses. RESULTS: A total of 51,426 Turner syndrome hospitalisations were identified. Median ages were 40 years (interquartile range 31-50) for TS + ATAAD+ and 32 years (interquartile range 9-49) for TS + ATAAD- ( < 0.001). Overall, 0.27% of Turner syndrome hospitalisations presented with ATAAD. Compared with TS + ATAAD-, those with ATAAD had higher mortality (13.1% vs 2.1%, < 0.001) and longer length of stay (median 8 vs 3 days, < 0.05). Rates of bicuspid aortic valve (34.3% vs 3.5%, < 0.001), hypertension (46.0% vs 25.7%, < 0.05), and complete heart block (14.6% vs 0.8%, < 0.001) were also higher. Multivariable analysis showed bicuspid aortic valve (adjusted odds ratio 24.31, 95% CI 8.8-67.3) and age (adjusted odds ratio 1.02, 95% CI 1.01-1.04) predicted ATAAD. Compared with TS-ATAAD+ patients, those withTS + ATAAD+ were younger (40 vs 68 years, < 0.001), while mortality, length of stay, hypertension, and bleeding rates were similar. CONCLUSION: ATAAD is highly lethal in patients with and without Turner syndrome. In Turner syndrome, ATAAD is associated with higher mortality, longer hospitalisation, and higher rates of bicuspid valve disease and hypertension.
Cantrell's pentalogy is a rare congenital disorder with high mortality. This report presents an infant with type 1 Cantrell's pentalogy and complex CHD, managed through staged surgeries and hybrid interventions. Genetic...Cantrell's pentalogy is a rare congenital disorder with high mortality. This report presents an infant with type 1 Cantrell's pentalogy and complex CHD, managed through staged surgeries and hybrid interventions. Genetic studies ruled out hereditary causes. The case highlights the importance of multidisciplinary approaches and further documentation to improve management and outcomes.
BACKGROUND: Studies assessing the effect of preoperative iron supplementation in paediatric cardiac surgery are limited and yield conflicting data. OBJECTIVES: The study aimed to evaluate the effect of preoperative oral...BACKGROUND: Studies assessing the effect of preoperative iron supplementation in paediatric cardiac surgery are limited and yield conflicting data. OBJECTIVES: The study aimed to evaluate the effect of preoperative oral iron supplementation on allogeneic blood transfusion after cardiac surgery for acyanotic CHD. METHOD: This was a prospective, open-label, outcome assessor-blinded, randomised clinical trial performed in a large tertiary care centre in India. Children (haemoglobin <13 gm/dl) with acyanotic CHD were recruited for the study. Children in the intervention arm received colloidal iron (3 mg/kg), folic acid, and cyanocobalamin according to body weight for at least 7 days before cardiac surgery. The primary outcome was the amount of allogeneic blood transfusion, while secondary outcome measures were the duration of mechanical ventilation and ICU stay. RESULTS: A total of eighty-six children (43 in each arm) completed the trials. A total of 43 children received iron supplementation for a minimum of 1 month. The haemoglobin level improved by 1.3 gm/dl immediately before the cardiac surgery in the intervention arm. The allogeneic blood transfusions (ml/kg) median (IQR) were significantly lower in the intervention group (5 (0–8) vs 10 (8–12); < 0.01). Furthermore, total cumulative allogeneic blood transfusion was also significantly lower in the intervention arm (60 ml; (0–100) vs 100 ml; (70–140); < 0.001). The duration of mechanical ventilation, ICU stay, and hospital stay was significantly lower in the intervention arm. CONCLUSION: Preoperative oral iron supplementation significantly reduces the need for allogeneic blood transfusion in children undergoing cardiac surgery for acyanotic heart disease.
Balci M, Ugan Atik S, Gokalp S
… +5 more, Cilsal E, Sahin M, Balik RS, Haydin S, Guzeltas A
Cardiol Young
· 2026 Feb · PMID 41914268
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BACKGROUND: Interatrial stenting has become an essential intervention for children with CHD requiring sustained interatrial communication to optimise systemic and pulmonary haemodynamics. This study aimed to evaluate pro...BACKGROUND: Interatrial stenting has become an essential intervention for children with CHD requiring sustained interatrial communication to optimise systemic and pulmonary haemodynamics. This study aimed to evaluate procedural success, clinical outcomes, and factors influencing haemodynamic improvement in a single-centre paediatric cohort. METHODS: A retrospective study was conducted on 16 patients who underwent interatrial stenting between 2018 and 2024. Patients were categorised by age as Group 1 (≤12 months, = 10) and Group 2 (>12 months, = 6). Demographic, procedural parameters, and follow-up data were analysed. RESULTS: Sixteen patients (median age 10.5 months, median weight 5.0 kg) underwent interatrial stenting. The most frequent diagnosis was borderline left ventricle (37.5%), followed by hypoplastic left heart syndrome (25%) and myocarditis (12.5%). Procedural success was achieved in 15 of 16 patients (93.8%), with one acute failure due to stent embolisation. The median radiation exposure was 244.5 mGy (interquartile range 123.8-447.0). Radiation exposure correlated positively with patient weight (r = 0.596, = 0.015). During a median follow-up of 17.5 months, six patients (37.5%) died, and two required redilation. No stent thrombosis occurred. CONCLUSION: Interatrial stenting is a safe and effective palliative intervention for paediatric CHD, providing significant haemodynamic improvement and bridging to definitive surgical management.
Zhu Y, Hoenig SM, Sarnaik KS
… +6 more, Patel S, Welke KF, McCrindle B, Mahboubi R, Salim Hammoud M, Karamlou T
Cardiol Young
· 2026 Feb · PMID 41914267
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OBJECTIVE: The choice between transcatheter and surgical pulmonary valve replacement for young adults with repaired tetralogy of Fallot who develop significant pulmonary valve insufficiency is challenging. Decision analy...OBJECTIVE: The choice between transcatheter and surgical pulmonary valve replacement for young adults with repaired tetralogy of Fallot who develop significant pulmonary valve insufficiency is challenging. Decision analytic modelling may be used to simulate long-term outcomes and suggest influential clinical thresholds for decision-making. A Markov model was constructed to compare the 5-year outcomes for a hypothetical cohort of 18-year-old patients. METHODS: A Markov model was constructed to simulate 10,000 hypothetical patients undergoing either transcatheter pulmonary valve replacement or surgical pulmonary valve replacement. Model inputs were abstracted from contemporary literature on the 5-year horizon. Outputs were used to derive an incremental cost-effectiveness ratio. Sensitivity and threshold analyses were performed to identify factors that would hypothetically change management. RESULTS: From modelling, surgical pulmonary valve replacement had superior survival, lower incidence of endocarditis, and lower reintervention rate compared to transcatheter pulmonary valve replacement at 5 years. Surgical pulmonary valve replacement yielded lower cumulative postprocedural costs ($10,767 versus $14,528) and greater quality-adjusted life years (3.16 versus 3.12 QALYs) than transcatheter pulmonary valve replacement. The calculated incremental cost-effectiveness ratio (-88,743$/QALY) identified surgical pulmonary valve replacement as the preferred strategy at baseline. Sensitivity analysis demonstrated that transcatheter pulmonary valve replacement would be the preferred strategy if either the post-transcatheter pulmonary valve replacement endocarditis rate or the post-transcatheter pulmonary valve replacement surgical reintervention rate were reduced to 0%/month. CONCLUSIONS: Comprehensive modelling of diverse outcomes showed that surgical pulmonary valve replacement had superior mid-term cost-effectiveness outcomes compared to transcatheter pulmonary valve replacement for young adults with repaired tetralogy of Fallot and pulmonary valve regurgitation. Sensitivity analysis found that the prevalence of post-transcatheter pulmonary valve replacement endocarditis and post-transcatheter pulmonary valve replacement surgical reintervention were influential outcomes for centres to consider when choosing between these strategies.
Cardiol Young
· 2026 Mar · PMID 41913959
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, a gram-positive bacterium found in 0.25-4% of urinary samples, is increasingly recognised as a cause of invasive urinary tract infections and bacteraemia. Its true prevalence is likely underestimated due to misidentifi..., a gram-positive bacterium found in 0.25-4% of urinary samples, is increasingly recognised as a cause of invasive urinary tract infections and bacteraemia. Its true prevalence is likely underestimated due to misidentification as other gram-positive cocci. Advances like matrix-assisted laser desorption ionisation time-of-flight mass spectrometry have improved diagnostic accuracy. Though rare, infective endocarditis is being reported more frequently, especially in adults with cardiac and urinary tract abnormalities. Paediatric cases are uncommon but can be severe. We report a case of mitral valve infective endocarditis in a 15-year-old female with congenital heart defects and neurogenic bladder, presenting with embolic stroke. This highlights the need for prompt diagnosis and multidisciplinary management to improve outcomes in this rare but serious condition.
Cardiol Young
· 2026 Mar · PMID 41913945
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Chylothorax and chylopericardium are rare in children and are typically associated with cardiothoracic surgery, congenital lymphatic abnormalities, or malignancy. Traumatic chylous effusions are particularly uncommon. We...Chylothorax and chylopericardium are rare in children and are typically associated with cardiothoracic surgery, congenital lymphatic abnormalities, or malignancy. Traumatic chylous effusions are particularly uncommon. We report an 11-year-old boy who developed extensive cervical and upper chest swelling following a minor firecracker blast injury. Subsequent imaging revealed large chylous pleural and pericardial effusions. Persistent high-output chyle loss despite exhaustive conservative therapy necessitated thoracic duct embolisation, which successfully resolved the effusions. This case highlights the importance of considering lymphatic injuries following seemingly trivial trauma and demonstrates the utility of percutaneous thoracic duct embolisation in paediatric lymphatic leaks.
Butler SC, Malik L, Kuhnell P
… +4 more, Lambert LM, Briend J, Kasparian NA, Anixt JS
Cardiol Young
· 2026 Mar · PMID 41912362
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BACKGROUND: Infants with single ventricle CHD commonly experience gross motor delays due to physiological and environmental factors, including increased risk for white matter injury, reduced aerobic capacity, restrictive...BACKGROUND: Infants with single ventricle CHD commonly experience gross motor delays due to physiological and environmental factors, including increased risk for white matter injury, reduced aerobic capacity, restrictive post-operative protocols, and limited movement opportunities. These delays persist in adolescence, affecting physical and social development. This study examines a quality improvement initiative within the National Pediatric Cardiology Quality Improvement Collaborative to enhance gross motor development. METHODS: Fifteen centres participated. Gross motor skills were assessed using the Ages and Stages Questionnaires, Third Edition, at 6 and 12 months. A key driver diagram, Plan-Do-Study-Act cycles, baseline data, and ongoing process measures were collected. Interventions were implemented, including education, therapy support, and mobilisation protocols. Control charts were used to evaluate the data. RESULTS: Scores from the Ages and Stages Questionnaires indicated delays in gross motor skills at baseline, with improvement over time. Participating centres showed a centerline shift from 41% to 89% of infants achieving on-target or improved motor scores, compared with 54% to 68% of infants at non-participating centres. Establishment of customised infant developmental plans increased from 62% to 74% for participating centres and from 53% to 61% for non-participating centres. Interventions included establishing processes for consistent screening, developmental plan administration, review of prone positioning, access to therapies, and early intervention referrals. CONCLUSION: This targeted quality improvement project increased the use of inpatient practices to support gross motor development for infants with single ventricle CHD. Collaborative, interdisciplinary efforts remain critical for addressing neurodevelopmental challenges in this high-risk population.
Sastry UMK, Koneti NR, Dhulipudi B
… +5 more, Sasikumar N, Bakhru S, Saravanan S, Mahimarangaiah J, Kumar RK
Cardiol Young
· 2026 Mar · PMID 41912356
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BACKGROUND: The KONAR-MF™ occluder, with its flexible medium-profile design, has broadened the feasibility of transcatheter closure of muscular ventricular septal defects, particularly in infants. OBJECTIVE: To assess fe...BACKGROUND: The KONAR-MF™ occluder, with its flexible medium-profile design, has broadened the feasibility of transcatheter closure of muscular ventricular septal defects, particularly in infants. OBJECTIVE: To assess feasibility, safety, techniques, and outcomes of muscular ventricular septal defect closure using the KONAR-MF™ occluder in a multicentre paediatric cohort. METHODS: A retrospective review was conducted at three tertiary paediatric cardiac centres (2018-2024). Patient demographics, ventricular septal defect characteristics, procedural approaches, and follow-up outcomes were analysed. Device implantation was performed via retrograde, antegrade, transseptal, or hybrid approaches under fluoroscopic and echocardiographic guidance. RESULTS: Fifty patients (54 devices) were included (median age: 48 months [interquartile range 12-96]; weight: 12 kg [interquartile range 7.5-23]), including 14 infants (9 < 7 kg). Indications were failure to thrive (46%), heart failure (28%), recurrent infections (12%), and postoperative residual ventricular septal defect (14%). The mean ventricular septal defect size was 5.8 ± 2 mm. Median fluoroscopy time was 18 minutes (range: 3-71). Residual shunts were present in 18% immediately, reducing to 9% at one week and resolving by three months. Mild, transient tricuspid regurgitation occurred in 14%. Over a median 9-month follow-up (range 1-60), no cases of heart block or haemolysis occurred. One embolisation required surgical retrieval. Pulmonary artery pressure decreased significantly (37 ± 13.4 to 19 ± 3.8 mmHg, < 0.001). CONCLUSIONS: Transcatheter closure of muscular ventricular septal defects with the KONAR-MF™ occluder is safe, effective, and versatile across paediatric age groups, including infants and postoperative cases. High success rates, minimal complications, and favourable short- to mid-term outcomes support its use in routine practice.
Cardiol Young
· 2026 Mar · PMID 41891181
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Hearts with a double-inlet and double-outlet right ventricle are infrequent. Due to their infrequency, it is unclear whether there are natural patterns in hearts like this. A systematic review was performed to identify p...Hearts with a double-inlet and double-outlet right ventricle are infrequent. Due to their infrequency, it is unclear whether there are natural patterns in hearts like this. A systematic review was performed to identify published cases of double-inlet double-outlet right ventricle. Characteristics for individual reported hearts were collated and entered into a cluster analysis. Hearts with double-inlet, double-outlet right ventricles tended to fall into two clusters largely based on aortic atresia and systemic venous connections.
Solomon MA, Fontes M, Krispinsky L
… +4 more, Slaughter JC, Barreto-Massad C, Lamb FS, Stark R
Cardiol Young
· 2026 Mar · PMID 41891179
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BACKGROUND: Cardiopulmonary bypass-induced inflammation is associated with poor postoperative outcomes. Bypass exposure has been associated with shifts in lymphocyte populations. This study aimed to describe two cytokine...BACKGROUND: Cardiopulmonary bypass-induced inflammation is associated with poor postoperative outcomes. Bypass exposure has been associated with shifts in lymphocyte populations. This study aimed to describe two cytokine profiles associated with T and NK cells and their effects on clinical markers of postoperative cardiovascular dysfunction in children undergoing cardiac surgery with cardiopulmonary bypass. METHODS: Children from two major children's hospitals undergoing corrective cardiac surgery with cardiopulmonary bypass were included. Plasma was collected pre-, 0 to 4 hours post- and 24 hours (when available) postoperatively. Plasma concentrations of cytokines were quantified using enzyme-linked immunosorbent assays. Delta cytokine concentrations were compared to vasoactive infusion score and percent fluid balance on postoperative day one. Vascular reactivity was assessed in a subset of the cohort. Confirmation of endothelial-specific effects of interferon-γ and interleukin-17A was performed in microvascular endothelial cells, assessing cytokine levels by enzyme-linked immunosorbent assays or trans-endothelial electrical resistance. RESULTS: A total of 26 children were included in the analysis. Interferon-γ was inversely associated with vasoactive infusion score ( < 0.05), whereas interleukin-17A and interleukin-23 were associated with greater cumulative postoperative fluid balance ( < 0.01 and 0.03, respectively). Peak vascular reactivity is strongly associated with interferon-γ ( = 0.001), but not with circulating interleukin-17A. Human microvascular endothelial cell exposure to interferon-γ increased endothelial permeability and cytokine production. CONCLUSIONS: Interferon-γ and interleukin-17A may be associated with cardiovascular dysfunction in children after exposure to cardiopulmonary bypass, albeit with differential clinical features. Interferon-γ may directly impact vascular measures, while the impact of interleukin-17A may relate to fluid accumulation.
Gökçeer Akbulut D, Bornaun H, Saygılı H
… +1 more, Tosun D
Cardiol Young
· 2026 Mar · PMID 41891175
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We present the case of an 8-year-old male with frequent premature ventricular contractions and mild left ventricular dysfunction, who was found to carry heterozygous variants in both and . Medical therapy resulted in im...We present the case of an 8-year-old male with frequent premature ventricular contractions and mild left ventricular dysfunction, who was found to carry heterozygous variants in both and . Medical therapy resulted in improved systolic function and reduced arrhythmia burden. This rare combination suggests a potential genotype-phenotype correlation in paediatric arrhythmogenic cardiomyopathy.
Pinilla J, Baral B, Rosseto G
… +6 more, Shelar V, Coy Z, Neves H, Dandamudi M, do Carmo Jorge S, Giorgi J
Cardiol Young
· 2026 Mar · PMID 41891166
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BACKGROUND: Infective endocarditis remains a serious condition. Patients with CHD are particularly susceptible due to structural abnormalities and repeated interventions. However, comparative data on infective endocardit...BACKGROUND: Infective endocarditis remains a serious condition. Patients with CHD are particularly susceptible due to structural abnormalities and repeated interventions. However, comparative data on infective endocarditis outcomes in patients with and without CHD stratified by age group remain limited. METHODS: We searched PubMed, Embase, and Cochrane for cohort studies comparing infective endocarditis outcomes in CHD versus non-CHD. Risk ratios with 95% confidence intervals were pooled using random-effects models. RESULTS: We included six observational cohort studies encompassing 180,194 patients, of whom 176,882 were adults and 3312 were children. Overall, 65% of the population were male. Patients with CHD tended to be younger and carried a lower comorbidity burden. CHD was associated with lower in-hospital mortality risk in adults (RR 0.42; 95% CI 0.34-0.53; < 0.01), whereas children with CHD demonstrated higher risk (RR 1.59; 95% CI 1.08 to 2.32; = 0.02). infective endocarditis was more common in adults with CHD (RR 1.28; 95% CI 1.09 to 1.50; < 0.01), while aureus infective endocarditis was less common in both adults (RR 0.71; 95% CI 0.58 to 0.88; < 0.01) and paediatric (RR 0.73; 95% CI 0.64 to 0.84; < 0.01) CHD patients. CONCLUSION: In this meta-analysis, mortality patterns in CHD varied by age, with lower mortality in adults and higher mortality in children. infective endocarditis was more common in adults with CHD, whereas aureus was less frequent across CHD age groups. These results highlight the need for age-specific and individualised endocarditis management in CHD.