Twenty-three patients with dilated cardiomyopathy were recruited and compared with 10 age-and sex-matched controls using 2D-speckle tracking images of the apex and base of the left ventricle. Follow-up was performed after a period of 6 years. Ten patients with dilated cardiomyopathy presented with diminished rotation and 13 patients presented with reverse apical rotation, which was associated with poorer outcomes.
Paediatric cardiology is often experienced as a noisy environment. Outpatient clinics, echocardiography laboratories, ICUs, catheterisation suites, and operating theatres are filled with alarms, conversations, machines, movement, and continual clinical activity. Beneath this activity, however, another dimension of CHD care exists: silence. These pauses are not simply absences within clinical work, but moments through which patients, families, nurses, physiologists, and clinicians encounter uncertainty, adaptation, fear, relief, and continuity across time. Across fetal diagnosis, infancy, childhood, adolescence, transition to adult services, and survivorship, silence emerges repeatedly within care. Some silences wound. Others sustain. At times, they create space for reflection and presence; at others, they may leave questions unspoken or emotions unsupported. Over years of care, individuals may be shaped by these experiences in ways rarely acknowledged within clinical medicine. This reflective perspective explores the role of silence, listening, and presence across the longitudinal experience of children and families living with CHD and those who care for them.
OBJECTIVES:Coarctation of the aorta is a congenital cardiovascular disease with focal aortic luminal narrowing, and paediatric patients face a high postoperative restenosis risk. This study aimed to develop and validate an interpretable machine learning model for early predicting restenosis after paediatric coarctation of the aorta direct repair using preoperative and intraoperative data. METHODS:A total of 117 patients (2016-2024) were retrospectively enrolled, divided into restenosis (21 cases, 17.9%) and non-restenosis (96 cases, 82.1%) groups (restenosis was defined as a peak systolic pressure gradient >20 mmHg measured by echocardiography). Recursive feature elimination with cross-validation screened key variables; six machine learning models were built with 5-fold randomised search cross-validation tuning, using the area under the curve as the primary metric. SHapley Additive exPlanation analysed feature contributions. RESULTS:The multilayer perceptron model performed best (mean area under the curve = 0.8333, 95% CI: 0.7111-0.9555, accuracy = 0.8376) with balanced precision-recall. SHapley Additive exPlanation identified low body surface area as the top risk factor. Resection and extended end-to-end anastomosis/end-to-side anastomosis were preferred surgically, while resection with end-to-end anastomosis should be avoided; end-to-side anastomosis reduced restenosis risk in patients with aortic arch hypoplasia. CONCLUSION:Machine learning models enable personalised, high-accuracy restenosis prediction. SHapley Additive exPlanation-facilitated risk factor identification optimises treatment strategies. Future prospective studies are needed to validate the models and develop clinical tools.
Pulmonary arterial hypertension in children remains a progressive disease marked by right ventricular failure and early mortality despite advances in targeted therapy. In resource-limited settings, access to parenteral prostacyclin is often constrained by cost, infrastructure, and challenges related to chronic administration. The atrial flow regulator is a transcatheter device that creates a controlled interatrial shunt to provide right-heart decompression. We describe our single-center experience with atrial flow regulator implantation in children with severe pulmonary arterial hypertension. We retrospectively reviewed six children with World Health Organization Group 1 pulmonary arterial hypertension who underwent device implantation between 2021 and 2024. Baseline assessment included echocardiography, cardiac magnetic resonance imaging, right-heart catheterization, N-terminal pro-B-type natriuretic peptide (NT-proBNP), and 6-minute walk distance. All patients had advanced pulmonary vascular disease despite combination oral therapy. Median indexed pulmonary vascular resistance was 17.0 Wood units·m² (10.8-28.5), median right ventricular ejection fraction was 31% (22-39), and median 6-minute walk distance was 250 m (190-280). Device implantation was successful in all patients, with no periprocedural mortality. During follow-up, NT-proBNP levels decreased and 6-minute walk distance improved. Friedman testing demonstrated significant changes over time for NT-proBNP (p = 0.002) and 6-minute walk distance (p = 0.003). In this small cohort, atrial flow regulator implantation was technically feasible and associated with favorable longitudinal trends in biomarker and functional measures. In resource-constrained settings, it may serve as an adjunctive strategy for carefully selected high-risk patients. Larger multicenter studies are needed to refine patient selection and long-term outcomes.
BACKGROUND:Kawasaki disease is the leading cause of acquired heart disease in children worldwide. Previous studies from Chandigarh, India, documented a rising incidence until 2019. The COVID-19 pandemic, with its infection-control measures and emergence of multisystem inflammatory syndrome in children, disrupted established epidemiological trends. We aimed to evaluate the impact of the pandemic on incidence, clinical features, and coronary outcomes in children with Kawasaki disease in the Union Territory of Chandigarh. METHODS:This study was conducted at the tertiary care teaching institute in North-West India, from January 2020 to December 2024. Demographic, clinical, laboratory, and echocardiographic data were collected. Population estimates were derived from national census projections, and annual incidence rates were calculated for children <5 years and <15 years. Temporal and seasonal trends were analysed using regression models and Chow tests. FINDINGS:A total of 442 children with Kawasaki disease were diagnosed during the study period-of these, 60 (median age 40.5 months, 62% male, 63% complete, and 37% incomplete Kawasaki disease) were residents of Chandigarh. Incidence declined markedly during the pandemic (1.7 and 3.4 per 100,000 children <5 years in 2020 and 2021, respectively), followed by a rebound in 2022 (8.4) and 2023 (5.8), and a sharp rise in 2024 (13.9), the highest incidence recorded to date in Chandigarh. Coronary artery abnormalities were detected in 13% of patients, with 3.3% showing persistent lesions at 6 weeks. No deaths occurred, and seasonal patterns remained unchanged compared with 2015-2019. INTERPRETATION:Kawasaki disease incidence in Chandigarh declined transiently during the COVID-19 pandemic but rebounded sharply post-pandemic, exceeding the highest previously reported estimates. Despite fluctuations, clinical features and coronary outcomes remained stable. These findings reinforce Kawasaki disease as an endemic childhood vasculitis in Chandigarh, India, and highlight the need for ongoing surveillance and early recognition as an important contributor to acquired heart disease burden in children.
High-degree atrioventricular block in young patients often requires pacing, posing long-term risks. We present a 15-year-old athlete with sickle cell trait and high-degree atrioventricular block managed with cardioneuroablation. Post-cardioneuroablation, atrioventricular conduction normalised, and a nine-month follow-up showed no arrhythmias. This case underscores cardioneuroablation as a promising, less invasive alternative to pacing for young patients, requiring further research.
BACKGROUND:Delirium is an inherently prevalent and particularly challenging aspect of pediatric heart disease that benefits from engagement of a vulnerable parent population. However, parental experience of witnessing their child's episode(s) of delirium is seldom reported on in the cardiac population. Our aim was to identify and describe the specific impact of bearing witness to delirium symptoms as a parent or caregiver. METHODS:A cross-sectional online survey was distributed via parent social media groups and e-mail lists, displayed at conferences, and posted in clinical spaces from August 2023 through March 2024. RESULTS:Fifty-one parents/caregivers provided meaningful responses. Most parents/caregivers were white (47, 92%), married (43/50, 86%), female (43, 84%), had a bachelor's degree or greater (39, 77%), and nearly half (24, 47%) had a household income greater than $150,000. Half (26, 51%) of the children with delirum symptoms were less than 3 years old at first episode. Most (40, 78%) parents/caregivers described witnessing their child's delirium symptoms as "very" or "extremely distressing" and 17 (33%) were "very" or "extremely fearful" of further episodes. Only 39% (19/51) of parents/caregivers received support despite 90% indicating they would have wanted more support. Of the 13 parents/caregivers who indicated their experience with delirium still impacts their daily life, seven screened positive by Impact of Event Scale 6 criteria for probable post-traumatic stress disorder. CONCLUSION:This survey provides new evidence on the distressing nature of witnessing a child's delirium episodes(s). Recognition of the impact on parents/caregivers and efforts to improve support and parental education should be undertaken.
Late-onset infective endocarditis after transcatheter atrial septal defect device closure is uncommon, and in selected patients, mechanical factors related to adverse device-tissue interaction may contribute to the development of late device-related infection. A 15-year-old boy presented with fever and systemic embolic manifestations eight years after transcatheter atrial septal defect closure. Echocardiography demonstrated a mobile mass on the left atrial surface of the occluder device, and computed tomography revealed splenic infarction and a mass-like lesion adjacent to the right lower pulmonary vein orifice. Emergent surgical intervention revealed extensive vegetation and fibrotic thickening predominantly along the right lower pulmonary vein orifice-adjacent left atrial wall, rather than on the device surface. The device was removed, the defect was closed using an autologous pericardial patch, and the patient completed six weeks of antibiotic therapy with an uneventful recovery. This case suggests that incomplete endothelialisation and chronic device-related mechanical interaction may create a vulnerable endocardial environment that facilitates bacterial adherence and subsequent infective endocarditis. Careful patient selection, prudent device sizing, and long-term echocardiographic surveillance may help identify patients in whom consideration of antibiotic prophylaxis during exposure to transient bacteremia could reduce the risk of subsequent infective endocarditis.
OBJECTIVE:To evaluate the need, feasibility, and acceptability of parental mental health screening in cardiology clinics and explore the relationship between social risk factors and parental mental health. STUDY DESIGN:Single-centre pilot study in two outpatient cardiology clinics. Participants were parents or caregivers of a fetus or child with CHD. Parental mental health was assessed using the Depression, Anxiety, and Stress Scale - 21 Items and the Edinburgh Postnatal Depression Scale. A validated social risk factor screener was also completed. Parents with positive screening results were referred for follow-up with the clinic social worker. RESULTS:A total of 131 participants enrolled, with an 83% consent rate. A total of 30% of participants screened positive for depression, anxiety, and/or stress. Among participants with a positive mental health screen, 36% did not have a previous mental health diagnosis; most were not currently receiving mental health services, and more than half were interested in receiving mental health services. Rates were similar between the prenatal and postnatal/early childhood years. Participants with a positive mental health screen had higher rates of several social risk factors. Acceptability was high, and the clinic social worker spent an average of 34 min per participant providing follow-up care. CONCLUSION:Stress, anxiety, and depression are common in parents/caregivers of a fetus or child with CHD. Longitudinal mental health screening in paediatric cardiology clinics identifies parents at risk for psychosocial challenges and structures related supports. Intervention sustainability using this approach is dependent on post-screening follow-up from social work support or staff with similar expertise.
BACKGROUND:We implemented a quality improvement initiative to optimise the outpatient medication regimen after paediatric cardiac surgery. A previous trial that limited furosemide found no readmissions for pleural effusion but an increase in pericardial effusions. A similar quality improvement project had implemented prophylactic non-steroidal anti-inflammatory drugs and found a decrease in readmissions for pericardial effusion. We used these results to design an outpatient medication regimen that minimises furosemide and uses only targeted ibuprofen and report readmission rates from this project. METHODS:Single-centre analysis of outcomes since the adoption of a quality improvement initiative aiming to limit outpatient diuretics (≤5 days) while using targeted ibuprofen to prevent pericardial effusion readmissions. RESULTS:Two hundred and one patients were eligible for analysis. Forty-one patients (20.4%) were prescribed >20 days of diuretics due to compliance failure and were not considered to have received a limited diuretic regimen, leaving 160 patients. Of those, 53 (33.1%) were correctly prescribed targeted ibuprofen based on meeting "high-risk" criteria. There was one readmission for pleural effusion and 2/160 (1.3%) readmissions for pericardial effusion. The previous prospective study of limited furosemide without ibuprofen had a pericardial effusion readmission rate of 4/61 (6.6%) versus the 2/160 (1.3%) after implementing the regimen described in this report (p = 0.04). CONCLUSIONS:We describe a medication regimen using limited outpatient furosemide without increased readmissions for pleural effusions. Targeted ibuprofen was used for high-risk patients only, and there were fewer readmissions for pericardial effusions than in a previous trial that used furosemide alone.
Abstract A congenital left atrial appendage aneurysm represents a very rare entity. CT angiography proved to be a valuable diagnostic tool, allowing for effective diagnosis and precise visualisation of spatial relationships.
BACKGROUND:Caregivers of children with CHD frequently experience psychological distress related to the chronic and unpredictable demands of their child's diagnosis. Peer support can mitigate distress and promote resilience, but few studies have explored factors affecting its implementation or the experiences of those who provide or facilitate peer support. This study aimed to identify barriers, facilitators, and recommendations for optimising peer support from the unique perspectives of leaders of patient/family organisations within the CHD community. METHODS:Using online crowdsourcing methods, qualitative data on the implementation of peer support was collected from 16 leaders representing five patient/family organisations. Crowdsourced data were coded and analysed using thematic analysis, with themes categorised as barriers, facilitators, and recommendations. RESULTS:Four overarching themes were constructed: 1) Training and Expertise, highlighting the value of lived experience alongside the need for structured training in mental health and bereavement; 2) Peer Mentor Wellbeing, including burnout, secondary traumatic stress, and the importance of clear role boundaries and expectations; 3) Partnerships and Collaboration, emphasising relationships with clinical care centres; and (4) Support for all Families and Family Members, including fathers, siblings, and bereaved families. DISCUSSION:The results provide insight into the implementation of peer support, with recommendations for next steps including hospital-community partnerships to improve access and intentional programme design to protect peer mentor wellbeing. Further understanding of caregiver and peer mentor needs is critical for elucidating ways to develop and implement optimal models of peer support.
Ankyrin-B syndrome, which has been linked to variants in ANK2 and classified as long QT syndrome type 4, is characterised by heterogeneous arrhythmic manifestations, including sinus node dysfunction and conduction abnormalities. Clinically significant atrioventricular block requiring permanent pacing in paediatric patients has rarely been described. We report a 10-year-old boy who presented with recurrent syncope and seizure-like episodes. Electrocardiography demonstrated QT prolongation, and continuous monitoring revealed persistent high-degree atrioventricular block. Genetic testing identified a heterozygous ANK2 variant of uncertain significance (NM_001148.4:c.5626G>A, p. Glu1876Lys), which was also detected in his mother and brother, while his father tested negative. Family evaluation revealed variable phenotypic expression, and a sister who died suddenly at 12 years of age had no available genotype but had autopsy findings of structural cardiac abnormalities. This case highlights clinically significant conduction disease in a child found to harbor an ANK2 VUS and long-QT phenotype and underscores the importance of detailed family phenotyping, rhythm surveillance, and individualised management.
BACKGROUND:Neurological injury is common in neonates undergoing cardiac surgery with cardiopulmonary bypass, yet perioperative neuroimaging and neuromonitoring practices vary across centres. We aimed to characterise current practices and provider perceptions across Pediatric Cardiac Intensive Care Society-affiliated centres. METHODS:We conducted an online, cross-sectional survey of Pediatric Cardiac Intensive Care Society members between August and October 2024. Part 1, completed by medical directors, assessed institutional characteristics and perioperative practices. Part 2, completed by multidisciplinary providers, evaluated perceptions of utility and sufficiency. RESULTS:A total of 143 responses from 60 institutions were analysed, including 38 medical directors. Most centres had a dedicated cardiac ICU (87%) and were academically affiliated (76%). Routine neuroimaging was more common preoperatively than postoperatively (87% vs. 32%), with head ultrasound most frequently used. Near-infrared spectroscopy was the most common neuromonitoring modality, while routine electroencephalography was reported at 18% of centres preoperatively and 50% postoperatively. Physicians were more likely than advanced practice providers and nurses to report practices as sufficient. Neurocritical care teams were present at 42% of centres but were not associated with greater use of neuroimaging or monitoring. CONCLUSIONS:Significant variability exists in perioperative practices and provider perceptions, highlighting the need for multidisciplinary alignment and standardised guidelines.
BACKGROUND AND OBJECTIVES:Hypertrophic cardiomyopathy is a life-threatening disease with limited studies in Middle Eastern populations. This pilot study (n = 8) aimed to identify rare genetic variants to enable future presymptomatic diagnosis and primary prevention. While the sample size precludes establishing population-level prevalence, our findings provide a springboard for generating testable hypotheses for future multicenter trials. METHODS:Whole-exome sequencing was performed on eight unrelated Egyptian patients. We prioritised variants using stringent criteria: allele frequency < 0.01 in gnomAD, combined annotation dependent depletion (CADD) score > 10, and focused analysis of 29 genes with definitive or moderate evidence for hypertrophic cardiomyopathy causation according to Clinical Genome Resource (ClinGen). Variants were ACMG/AMP-classified and correlated with detailed clinical phenotypes. RESULTS:We identified 21 rare variants across 10 hypertrophic cardiomyopathy-associated genes. Core sarcomeric genes accounted for seven variants: MYBPC3 (n = 2; one likely pathogenic, p.Gly1206Asp), MYH7 (n = 2; one pathogenic, p.Phe252Ser), and TNNT2 (n = 3; all variants of uncertain significance). Additionally, likely pathogenic variants were found in PLN (p.Arg25Cys) and KLHL24 (p.Arg103*). Patients with pathogenic or likely pathogenic sarcomeric variants exhibited severe phenotypes, including septal thickness up to 30 mm, left ventricular outflow tract gradients up to 60 mmHg, and a high arrhythmic burden, influencing decisions like implantable cardioverter-defibrillator implantation and myectomy. Notably, all three TNNT2 carriers manifested atrial fibrillation or non-sustained ventricular tachycardia, reinforcing its arrhythmic risk. Four novel or likely pathogenic variants were submitted to ClinVar. CONCLUSION:As the first genetic study of hypertrophic cardiomyopathy in an Egyptian population, this work expands the global mutational spectrum, demonstrates the utility of genetic testing for risk stratification and personalised management, and underscores the need to diversify genomic datasets for equitable precision medicine.
