Catecholaminergic polymorphic ventricular tachycardia is an ion channelopathy, caused by mutations in genes coding for calcium-handling proteins. It can coexist with left ventricular non-compaction. We aim to investigate the clinical and genetic characteristics of this co-phenotype.

Medical records of 24 patients diagnosed with catecholaminergic polymorphic ventricular tachycardia in two Chinese hospitals between September, 2005, and January, 2020, were retrospectively reviewed. We evaluated their clinical and genetic characteristics, including basic demographic data, electrocardiogram parameters, medications and survival during follow-up, and their gene mutations. We did structural analysis for a novel variant ryanodine receptor 2-E4005V.

The patients included 19 with catecholaminergic polymorphic ventricular tachycardia mono-phenotype and 5 catecholaminergic polymorphic ventricular tachycardia-left ventricular non-compaction overlap patients. The median age of onset symptoms was 9.0 (8.0,13.5) years. Most patients (91.7%) had cardiac symptoms, and 50% had a family history of syncope. Overlap patients had lower peak heart rate and threshold heart rate for ventricular tachycardia and ventricular premature beat during the exercise stress test (p < 0.05). Sudden cardiac death risk may be higher in overlap patients during follow-up. Gene sequencing revealed 1 novel ryanodine receptor 2 missense mutation E4005V and 1 mutation previously unreported in catecholaminergic polymorphic ventricular tachycardia, but no left ventricular non-compaction-causing mutations were observed. In-silico analysis showed the novel mutation E4005V broke down the interaction between two charged residues.

Catecholaminergic polymorphic ventricular tachycardia overlapping with left ventricular non-compaction may lead to ventricular premature beat/ventricular tachycardia during exercise stress test at lower threshold heart rate than catecholaminergic polymorphic ventricular tachycardia alone; it may also indicate a worse prognosis and requires strict follow-up. ryanodine receptor 2 mutations disrupted interactions between residues and may interfere the function of ryanodine receptor 2.

In neonatal vein of Galen aneurysmal malformation, vein of Galen aneurysmal malformation echocardiography remains the mainstay for early detection and explains various haemodynamic changes occurring due to a large systemic arterio-venous shunt. However, there is limited evidence of echocardiography in risk stratifying neonatal vein of Galen aneurysmal malformation vein of Galen aneurysmal malformation. The objective of this study was to identify echocardiographic parameters that could be associated with major outcomes and guide timing of neuro-intervention.

In this retrospective chart review, infants < 28 days of age with the diagnosis of vein of Galen aneurysmal malformation vein of Galen aneurysmal malformation were included. Demographic, clinical, and echocardiographic parameters were compared in neonates who survived or died with neonatal presentation. A risk algorithm model based on key echocardiographic parameters was developed to determine those who are at risk of early death.

Of the 19 neonates included, with median birth weight 3.1 kg (IQR 2.58–3.36), nine (47%) neonates died at median age of 5 days (IQR 4–17). All neonates showed retrograde diastolic flow at the level of descending aorta by colour Doppler on the first post-natal echocardiogram at median age of 2 days (IQR 1–5.5). An aortic antegrade-to-retrograde velocity time integral ratio of < 1.5 and supra-systemic pulmonary artery pressure had 100% positive predictive value of death (p = 0.029), whereas aortic antegrade-to-retrograde velocity time integral ratio of > 1.5 and sub-systemic pulmonary artery pressure had 100% positive predictive value of survival (p = 0.029).

Combination of aorta antegrade-to-retrograde velocity time integral ratio and degree of pulmonary hypertension on the first post-natal echocardiogram may help stratify the severity of disease and guide optimal timing for neuro-intervention for neonatal vein of Galen aneurysmal malformation.

Infectious endocarditis poses a diagnostic challenge due to its highly variable clinical presentation. To establish a definitive diagnosis, different imaging modalities are essential. In recent years, positron emission tomography/CT has gained increasing significance in diagnosing infective endocarditis; however, its application in the pediatric age group remains limited. This study encompasses patients definitively or potentially diagnosed with infectious endocarditis at our institution from 2018 to 2023.

A total of 29 patients underwent 18F-fluorodeoxyglucose positron emission tomography/CT examinations, with 19 of them presenting with right-sided infective endocarditis.

Evidence consistent with infective endocarditis was observed in 18 (94.7%) of the patients. Pulmonary septic embolism was identified in 15 (78.9%) cases, and splenic involvement was noted in 12 (57.8%) cases. Transthoracic/transesophageal echocardiography failed to reveal vegetation or provided uncertain results in six patients, whereas fluorodeoxyglucose-positron emission tomography-CT exhibited involvement. Subsequently, the diagnosis of infective endocarditis was confirmed post-surgery based on the fluorodeoxyglucose-positron emission tomography-CT findings.

Our results, along with our clinical experience, demonstrate that fluorodeoxyglucose-positron emission tomography-CT is a safe and viable method for diagnosing right-sided endocarditis, which is often challenging to visualize using echocardiography.

Brady-arrhythmia requiring pacemaker implantation remains one of the Fontan-specific complications before and after total cavopulmonary connection.

A retrospective analysis of 620 patients who underwent total cavopulmonary connection between 1994 and 2021 was performed to evaluate the incidence of brady-arrhythmia and the outcomes after pacemaker implantation. Factors associated with the onset of brady-arrhythmia were identified.

A total of 52 patients presented with brady-arrhythmia and required pacemaker implantation. Diagnosis included 16 sinus node dysfunctions, 29 atrioventricular blocks, and 7 junctional escape rhythms. Pacemaker implantation was performed before total cavopulmonary connection (n = 16), concomitant with total cavopulmonary connection (n = 8), or after total cavopulmonary connection (n = 28, median 1.8 years post-operatively). Freedom from pacemaker implantation following total cavopulmonary connection at 10 years was 92%. Twelve patients needed revision of electrodes due to lead dysfunction (n = 9), infections (n = 2), or dislocation (n = 1). Lead energy thresholds were stable, and freedom from pacemaker lead revision at 10 years after total cavopulmonary connection was 78%. Congenitally corrected transposition of the great arteries (odds ratio: 6.6, confidence interval: 2.0–21.5, p = 0.002) was identified as a factor associated with pacemaker implantation before total cavopulmonary connection. Pacemaker rhythms for Fontan circulation were not a risk factor for survival (p = 0.226), protein-losing enteropathy/plastic bronchitis (p = 0.973), or thromboembolic complications (p = 0.424).

In our cohort of patients following total cavopulmonary connection, freedom from pacemaker implantation at 10 years was 92% and stable atrial and ventricular lead energy thresholds were observed. Congenitally corrected transposition of the great arteries was at increased risk for pacemaker implantation before total cavopulmonary connection. Having a pacemaker in the Fontan circulation had no adverse effect on survival, protein-losing enteropathy/plastic bronchitis, or thromboembolic complications.

Gastrointestinal bleeding is a potential complication in paediatric patients undergoing cardiopulmonary bypass, as it develops secondary to low gastrointestinal perfusion. This study aimed to examine the incidence of gastrointestinal bleeding and identify its risk factors in these patients.

This retrospective study was undertaken to examine the demographic features, clinical findings, and operative data of paediatric patients under years old who had undergone congenital heart surgery with cardiopulmonary bypass between November 1, 2021, and November 1, 2023. The study aimed to investigate the incidence of gastrointestinal bleeding associated with cardiopulmonary bypass and to identify potential risk factors for gastrointestinal bleeding. The obtained results were statistically evaluated.

The study period included 1100 patients who underwent congenital heart surgery with cardiopulmonary bypass. Fifty-two percent of the total participants were male. The median weight of the patients was 4.4 kg, with an interquartile range of 3.5–5.8 kg. The patients were categorised by age, revealing that 62% were newborns, 24% were infants, and 14% were children. Forty-four (4.2%) of the total number of patients experienced gastrointestinal bleeding. Newborns had a significantly higher incidence of bleeding (6% or 34 patients) compared to infants (3% or 8 patients) and children (1.5% or 2 patients) (p < 0.05). Patients who experienced gastrointestinal bleeding had a longer median hospital stay of 24 days compared to those who did not, with a median hospital stay of 14 days. Moreover, patients who suffered from bleeding had a significantly higher mortality rate (30%) in comparison to those who did not (9.9%) (p < 0.05). The incidence of gastrointestinal bleeding was found to be associated with several risk factors, such as low operative age and weight, high surgical score, presence of low cardiac output syndrome, extracorporeal membrane oxygenation (ECMO) usage, high lactate levels, and low platelet count.

Gastrointestinal bleeding is a potential complication for patients who undergo cardiopulmonary bypass. It is particularly relevant for newborns who have undergone prolonged surgery, have a high surgical complexity score, exhibit high lactate levels, display low cardiac output, utilise ECMO, and possess low platelet counts. In such cases, there may be a heightened incidence of gastrointestinal bleeding. It is important to consider this possibility in order to ensure the best possible patient outcomes.

Hypertrophic cardiomyopathy is the leading cause of sudden cardiac death among the paediatric population. The aim of this study is to investigate the prevalence and clinical significance of late gadolinium enhancement, as assessed by cardiac MRI, in paediatric hypertrophic cardiomyopathy.

A systematic literature search was conducted in PubMed, SCOPUS, and Ovid SP to identify relevant studies. Pooled estimates with a 95% confidence interval were calculated using the random-effects generic inverse variance model. Statistical analysis was performed using Review Manager v5.4 and R programming.

Seventeen studies were included in this meta-analysis, encompassing a total of 778 patients. Late gadolinium enhancement was highly prevalent in paediatric hypertrophic cardiomyopathy, with a pooled prevalence of 51% (95% confidence interval, 40–62%). The estimated extent of focal fibrosis expressed as a percentage of left ventricular mass was 4.70% (95% confidence interval, 2.11–7.30%). The presence of late gadolinium enhancement was associated with an increased risk of adverse cardiac events (pooled odds ratio 3.49, 95% confidence interval 1.10–11.09). The left ventricular mass index of late gadolinium enhancement-positive group was higher than the negative group, with a standardised mean difference of 0.91 (95% confidence interval, 0.42–1.41).

This meta-analysis demonstrates that prevalence of late gadolinium enhancement in paediatric hypertrophic cardiomyopathy is similar to that in the adult population. The presence and extent of late gadolinium enhancement are independent predictors of adverse cardiac events, underscoring their prognostic significance among the paediatric population.

Pulmonary valve-sparing repair of tetralogy of Fallot and double outlet right ventricle with pulmonary stenosis has the advantage of reduced incidence of late pulmonary valve regurgitation and better-preserved cardiac function. However, a right ventriculotomy is sometimes necessary in order to adequately relieve subvalvular pulmonary stenosis. We aimed to compare postoperative cardiac function and patients’ symptoms between pulmonary valve-sparing repair with and without right ventriculotomy.

We retrospectively collected data from electronic medical records of Ramathibodi Hospital from 1st January 2013 to 31st October 2023. Patients diagnosed with tetralogy of Fallot and double outlet right ventricle with pulmonary stenosis who underwent pulmonary valve-sparing repair were included. Patients who underwent other types of repairs and whose medical record data were significantly missing were excluded. Demographic data, operative, and postoperative details were collected and reviewed.

There were 49 patients included in our study with 10 patients undergoing pulmonary valve-sparing repair with and the other 39 without right ventriculotomy. Before-discharge echocardiographic parameters were generally similar between both groups (tricuspid annular plane systolic excursion = 0.9 versus 0.89 cm, P = 0.737; pressure gradient across pulmonary valve across pulmonary valve = 24 versus 19 mmHg, P = 0.275; left ventricular end-systolic volume index = 17.84 versus 19.19 ml/m2, P = 0.437; left ventricular end-diastolic volume index = 63.79 versus 61.13 ml/m2, P = 0.436). Patients’ symptoms were also not statistically different. There was no early and late death up to the end date of our study.

Right ventriculotomy in pulmonary valve-sparing repair did not result in worse postoperative cardiac function and symptoms. This suggested that the previously thought-to-be hazardous incision could be strongly considered if mandated.

Neurocognitive impairment and quality of life are two important long-term challenges for patients with complex CHD. The impact of re-interventions during adolescence and young adulthood on neurocognition and quality of life is not well understood.

In this prospective longitudinal multi-institutional study, patients 13–30 years old with severe CHD referred for surgical or transcatheter pulmonary valve replacement were enrolled. Clinical characteristics were collected, and executive function and quality of life were assessed prior to the planned pulmonary re-intervention. These results were compared to normative data and were compared between treatment strategies.

Among 68 patients enrolled from 2016 to 2020, a nearly equal proportion were referred for surgical and transcatheter pulmonary valve replacement (53% versus 47%). Tetralogy of Fallot was the most common diagnosis (59%) and pulmonary re-intervention indications included stenosis (25%), insufficiency (40%), and mixed disease (35%). There were no substantial differences between patients referred for surgical and transcatheter therapy. Executive functioning deficits were evident in 19–31% of patients and quality of life was universally lower compared to normative sample data. However, measures of executive function and quality of life did not differ between the surgical and transcatheter patients.

In this patient group, impairments in neurocognitive function and quality of life are common and can be significant. Given similar baseline characteristics, comparing changes in neurocognitive outcomes and quality of life after surgical versus transcatheter pulmonary valve replacement will offer unique insights into how treatment approaches impact these important long-term patient outcomes.

Metabolic syndrome leading to type 2 diabetes mellitus and cardiovascular diseases is a chronic multifactorial syndrome, associated with low-grade inflammation status. In our study, we aimed at assessing the serum levels of follistatin (FST), pregnancy-associated plasma protein-A (PAPP-A), and platelet/endothelial cell adhesion molecule-1 (PECAM-1) in adolescent patients with metabolic syndrome.

This study was performed in 43 (19 males, 24 females) metabolic syndrome adolescents and 37 lean controls matched for age and sex. The serum levels of FST, PECAM-1, and PAPP-A were measured by using ELISA method.

Serum FST and PAPP-A levels in metabolic syndrome were significantly higher than those of controls (p < 0.005 and p < 0.05). However, there was no difference in serum PECAM-1 levels between metabolic syndrome and control groups (p = 0.927). There was a significant positive correlation between serum FST and triglyceride (r = 0.252; p < 0.05), and PAPP-A and weight, (r = 0.252; p < 0.05) in metabolic syndrome groups. Follistatin was determined statistically significant in both univariate (p = 0,008) and multivariate (p = 0,011) logistic regression analysis.

Our findings indicated a significant relationship between FST and PAPP-A levels and metabolic syndrome. These findings offer the possibility of using these markers in diagnosis of metabolic syndrome in adolescents as the prevention of the future complications.

CHD is a significant risk factor for the development of necrotising enterocolitis. Existing literature does not differentiate between term and preterm populations. Long-term outcomes of these patients are not well understood. The aim was to investigate the baseline characteristics and outcomes of term normal birth weight infants with CHD who developed necrotising enterocolitis.

A retrospective review was performed of infants from a single tertiary centre with CHD who developed necrotising enterocolitis of Bell’s Stage 1–3, over a ten-year period. Inclusion criteria was those born greater than 36 weeks’ gestation and birth weight over 2500g. Exclusion criteria included congenital gastro-intestinal abnormalities. Sub-group analysis was performed using Fisher’s exact test.

Twenty-five patients were identified, with a median gestational age of 38 weeks. Patients with univentricular physiology accounted for 32% (n = 8) and 52% of patients (n = 13) had a duct-dependent lesion. Atrioventricular septal defect was the most common cardiac diagnosis (n = 6, 24%). Patients with trisomy 21 accounted for 20% of cases. Mortality within 30 days of necrotising enterocolitis was 20%. Long-term mortality was 40%, which increased with increasing Bell’s Stage. In total, 36% (n = 9) required surgical management of necrotising enterocolitis, the rate of which was significantly higher in trisomy 21 cases (p < 0.05).

Not previously described in term infants is the high rate of trisomy 21 and atrioventricular septal defect. This may reflect higher baseline incidence in our population. Infants with trisomy 21 were more likely to develop surgical necrotising enterocolitis. Mortality at long-term follow-up was high in patients with Bell’s Stage 2–3.

Pericardial tamponade, which increases postoperative mortality and morbidity, is still not uncommon after paediatric cardiac surgery. We considered that posterior pericardiotomy may be a useful and safe technique in order to reduce the incidence of early and late pericardial tamponade. Herein, we present our experience with creation of posterior pericardial window following congenital cardiac surgical procedures.

This retrospective study evaluated 229 patients who underwent paediatric cardiac surgical procedures between June 2021 and January 2023. A posterior pericardial window was created in all of the patients. In neonates and infants, pericardial window was performed at a size of 2x2 cm, whereas a 3x3 cm connection was established in elder children and young adults. A curved chest tube was placed and positioned at the posterolateral pericardiophrenic sinus. An additional straight anterior mediastinal chest tube was also inserted in every patient. Transthoracic echocardiographic evaluations were performed daily to assess postoperative pericardial effusion.

A total of 229 (135 male, 94 female) patients were operated. Mean age and body weight were 24.2 ± 26.7 months and 10.2 ± 6.7 kg, respectively. Eight (3.5%) of the patients were neonates where 109 (47.6%) were infants and 112 (48.9%) were in childhood. Fifty-two (22.7%) re-do operations were performed. Six (2.6%) patients underwent postoperative surgical re-exploration due to surgical site bleeding. Any early or late pericardial tamponade was not encountered in the study group.

Posterior pericardial window is an effective and safe technique in order to prevent both the early and late pericardial tamponade after congenital cardiac surgery.

Obesity is an independent risk factor for cardiovascular diseases. The study aims to assess the left ventricular structure and functions in children with obesity.

This study included 29 patients with metabolic syndrome, 31 patients with obesity without metabolic syndrome, and 30 healthy children of similar age and gender. Demographic, anthropometric, and biochemical findings and left ventricular structure and functions evaluated by conventional pulsed wave Doppler and tissue Doppler echocardiography were compared.

The left ventricular mass index and relative wall thickness were significantly higher in children with obesity compared to controls. The mean left ventricular mass index of children with metabolic syndrome was also higher than for those without it. Most children with obesity had normal left ventricular geometry; concentric hypertrophy (27.6%) was more common in children with metabolic syndrome, and eccentric hypertrophy (25.7%) was more common in those without. The early to late diastolic mitral annular velocity ratios obtained with conventional pulsed wave Doppler echocardiography and tissue Doppler echocardiography (E/A and Em/Am, respectively) were lower in children with obesity than controls. In addition, the ratio obtained by tissue Doppler echocardiography was lower in children with metabolic syndrome than without. The homeostatic model assessment of insulin resistance, systolic blood pressure, and body mass index has been identified as independent factors for left ventricular structures and functions.

Obesity causes subclinical left ventricular hypertrophy and diastolic dysfunction. Additional metabolic syndrome-related risks lead to further deterioration of cardiac morphology and functions.

The population of adults with single-ventricle congenital heart disease (CHD) is growing. This study explores their lived experiences through an adult developmental psychology framework.

Individuals aged 18 and older with single-ventricle CHD participated in Experience Group sessions and 1:1 interviews. Sessions were transcribed and analysed thematically. Themes were categorized by developmental domains and age group.

Of the 29 participants, 18 (62%) were female, 10 (35%) were emerging (18–29 years), 13 (45%) were established (30–45 years), and 6 (21%) were midlife adults (46–60 years). Emerging adults expressed reluctance to initiate romantic relationships and fear of burdening partners, while established adults reported strong relationships with partners deeply involved in caregiving. Emerging adults struggled with finding fulfilling work that meets their health needs, whereas established and midlife adults faced unemployment or early retirement due to health limits. Family dynamics shifted, with established and midlife adults educating their children to become caregivers. Physical limitations and low self-rated health were consistent across life stages, and midlife adults did not worry about traditional chronic conditions. Mental health concerns, including anxiety and depression, persisted across all life stages, but resiliency and positive affect were also evident.

Adults with single-ventricle CHD experience developmental milestones differently, indicating the need for early anticipatory guidance in these domains to achieve optimal outcomes in adulthood.

Obstructive sleep apnoea is a common sleep disorder, and adult congenital heart disease (CHD) is also a significant burden on the population. Early diagnosis and treatment are important for improving quality of life and reducing the risk of health complications. The limited research on obstructive sleep apnoea and adult CHD highlights the need for further investigation into the relationship between these two conditions and the mechanisms underlying this relationship.

We used NIS 2019 database to identify adult CHD admissions aged 18–44 years and assess the impact of obstructive sleep apnoea on all-cause mortality, dysrhythmia, and stroke. A propensity-matched cohort of individuals with and without obstructive sleep apnoea was obtained, and the outcomes were assessed using multivariable analysis and compared in terms of resource utilisation.

Of the 41,950 young adult CHD admissions, 6.3% (n = 2630) had obstructive sleep apnoea. The obstructive sleep apnoea+ (n = 2590) and obstructive sleep apnoea− (n = 2590) cohorts were comparable in terms of median age (35 years) and were predominantly male (63.1% versus 62.5%). The obstructive sleep apnoea+ cohort had a higher frequency of risk factors like chronic obstructive pulmonary disease, hypothyroidism, and prior venous thromboembolism than the obstructive sleep apnoea cohort. We found significant association of obstructive sleep apnoea with dysrhythmia (adjusted odds ratio 2.99, 95% confidence interval 2.13–4.19, p < 0.001), but no significant impact on the risk of all-cause mortality or stroke. The obstructive sleep apnoea+ cohort also had higher transfers to short-term facilities, prolonged stays, and higher charges (p < 0.001).

Our study provides important insights into relationship between obstructive sleep apnoea and adult CHD and highlights the need for further investigation into the impact of obstructive sleep apnoea on individuals with adult CHD.

Myocardial infarction is rare in children but frequently occurs unexpectedly with atypical presentation. It can cause a progressive lethal course unless prompt treatment is initiated.

Paediatric cases of myocardial infarction diagnosed by the presence of ischaemic myocardial insults and symptomatic ventricular dysfunction were reviewed retrospectively.

Eighteen patients (5 days to 14 years of age; median 3 months) with myocardial infarction were studied. The aetiology was variable, including congenital coronary anomalies: anomalous left coronary artery from pulmonary artery (five patients), pulmonary atresia with intact ventricular septum with right ventricle-dependent coronary circulation (four), anomalous aortic origin of left coronary artery (three), and Williams syndrome with supravalvar aortic stenosis (one). Two acquired coronary anomalies occurred in one patient with undiagnosed Kawasaki disease with complete thrombotic obstruction of the left coronary artery and another with post-transplant cardiac allograft microangiopathy. Three patients developed thromboembolic coronary artery incidents in normal coronary anatomy. Fourteen patients were less than 1 year of age (78%). Electrocardiographic abnormalities were noted in all patients. Four patients required extracorporeal membrane oxygenation support for severe ventricular dysfunction, none of whom survived. Five patients underwent heart transplant. Five patients died during the same hospitalisation, and one patient died after discharge (overall mortality 33%). Transplant-free survival was 39%.

Most myocardial infarction occurred in infants who presented with abrupt onset of non-specific clinical manifestations with progressively deteriorating haemodynamic status resulting in poor transplant-free survival rate. Early diagnosis and treatment are essential to prevent catastrophic outcomes.