Early identification of familial hypercholesterolaemia is critical to prevent long-term cardiovascular complications. This study assessed diagnostic features and age at diagnosis in children with familial hypercholesterolaemia to identify factors influencing the diagnostic process and improve screening strategies.

A retrospective review was conducted on 129 paediatric patients with familial hypercholesterolaemia. Data on demographics, family history, clinical findings, lipid levels, and initial reasons for lipid testing were collected.

Of 129 patients, 20.2% had homozygous and 79.8% had heterozygous familial hypercholesterolaemia. Diagnostic delay occurred in 82.9%, with a median of 6.8 years. The most common reason for lipid testing was incidental detection (29.5%), followed by clinical symptoms (23.2%). No significant association was found between testing reasons and age at diagnosis, diagnostic delay, duration of delay, or familial risk factors. Patients with parental hypercholesterolaemia had longer diagnostic delays (7.03 ± 3.54 vs. 4.18 ± 2.70 years, p = 0.016). No differences were observed in age at diagnosis or delay between patients with and without familial risk factors or clinical findings.

The findings reveal significant diagnostic delays in paediatric familial hypercholesterolaemia, with most cases being diagnosed incidentally rather than through structured screening. There is a pressing need for systematic, context-specific screening strategies to improve early detection and reduce long-term cardiovascular risk.

Children with cyanotic CHD experience chronic hypoxaemia and recurrent medical interventions that may adversely affect health-related quality of life.

To compare health-related quality of life between children with cyanotic CHD and healthy peers in Sulaimani, Iraq.

A hospital-based case–control study was conducted between October 2023 and April 2024, including 200 children with cyanotic CHD and 200 age- and sex-comparable healthy controls aged 3–13 years. Quality of life was assessed using the Pediatric Quality of Life Inventory (PedsQL™), including the Generic Core Scale Version 4.0 and the Cardiac Module Version 3.0, through parent-reported interviews. Group differences were examined using independent-samples t-tests and analysis of covariance, adjusting for age, sex, peripheral oxygen saturation (SpO2), and educational level.

Children with cyanotic CHD had significantly lower health-related quality-of-life scores across all domains compared with healthy children (all p-values < 0.001). After adjustment, the largest differences were observed in physical functioning and total quality of life, with large effect sizes (partial η2 = 0.50 and 0.63, respectively). Mean SpO2 levels were also significantly lower among children with cyanotic CHD (p < 0.001).

Cyanotic CHD was independently associated with substantial impairment in quality of life across physical and psychosocial domains. Lower peripheral oxygen saturation (SpO2) was independently associated with poorer health-related quality of life. These findings support integrating health-related quality-of-life assessment and multidisciplinary care into the routine management of children with cyanotic CHD.

Carditis, the main determinant of long-term morbidity in acute rheumatic fever, may be detected by echocardiography even in the absence of clinical signs. This study aimed to determine the prevalence of silent carditis in asymptomatic children with elevated antistreptolysin O titers and to evaluate associations with demographic and laboratory parameters.

In this cross-sectional study, 61 asymptomatic children with incidentally detected elevated antistreptolysin O titers between September 2020 and September 2021 were evaluated. Demographic characteristics, inflammatory markers, and standardised Doppler echocardiographic assessments based on World Heart Federation criteria were analysed.

Silent carditis was identified in 8 of 61 patients (13.1%; 95% confidence interval 6.9 to 23.3). In the silent carditis group, 75% were female, and the median age was 12 years (interquartile range 9 to 14). Echocardiographic findings showed isolated mitral regurgitation in four patients and combined mitral and aortic regurgitation in four. Erythrocyte sedimentation rate was the only parameter that differed significantly between patients with and without silent carditis (p = 0.001). Antistreptolysin O levels showed weak negative correlations with haemoglobin (rho = −0.322, p = 0.011) and left ventricular posterior wall thickness (rho = −0.270, p = 0.036).

Some asymptomatic children with elevated antistreptolysin O titers had echocardiographic findings consistent with silent carditis. However, antistreptolysin O levels and most inflammatory markers were not reliable predictors of valvular involvement. Echocardiography in selected cases may help detect subclinical cardiac involvement. Findings should be interpreted cautiously due to the limited sample size and cross-sectional design.

Kawasaki disease is a systemic vasculitis of unknown aetiology that is usually seen in children younger than five years of age. In our study, the demographic, clinical, laboratory, and echocardiographic characteristics of children diagnosed with Kawasaki disease were evaluated, and patients were compared between complete and incomplete Kawasaki disease, as well as according to the presence or absence of coronary artery involvement.

This retrospective study included 35 paediatric patients diagnosed with Kawasaki disease. Patients were classified as having complete Kawasaki disease or incomplete Kawasaki disease and were further stratified based on the presence or absence of coronary artery involvement. Laboratory parameters were compared between patients with and without coronary artery involvement before treatment and one week after treatment.

The study included 35 patients, 71.4% of whom were male (n = 25). Complete Kawasaki disease was diagnosed in 68.6% of patients, and coronary artery involvement was detected in 37.1%. Patients with complete Kawasaki disease had more frequent extremity changes (p = 0.011), higher C-reactive protein (p = 0.014), and lower alanine aminotransferase levels (p = 0.014) than those with incomplete Kawasaki disease. Patients with coronary artery involvement were younger (p = 0.001), had longer hospitalisation (p = 0.020), prolonged fever before intravenous immunoglobulin treatment (p = 0.003), and delayed defervescence (p = 0.028) compared to patients without coronary artery involvement. Before treatment, erythrocyte sedimentation rate (p = 0.033), lymphocyte (p = 0.022), and platelet (p = 0.001) were higher in patients with coronary artery involvement, whereas no significant differences were observed after treatment.

Patients with coronary artery involvement in Kawasaki disease were younger and exhibited more pronounced inflammatory findings compared with those without involvement; however, these inflammatory differences disappeared after treatment. This finding supports the importance of early and effective treatment during the acute phase.

Atrial standstill represents a rare cardiac arrhythmia characterised by the complete absence of atrial electrical and mechanical activity. Early diagnostic recognition coupled with comprehensive genetic counselling assumes paramount importance. Herein, we report a rare case of a patient who presented with bradycardia at an early age and demonstrated aggressive atrial standstill during a pacemaker upgrade, which challenged the therapeutic strategy.

A 5-year-old girl was initially diagnosed with bradycardia. Holter monitoring confirmed severe bradycardia with prolonged sinus arrest episodes. Subsequently, the patient underwent single-chamber pacemaker implantation. During a planned dual-chamber upgrade at age 11, despite systematic exploration of multiple anatomical sites within the right atrium, adequate atrial capture could not be achieved. Intracardiac electrophysiological assessment demonstrated a complete absence of electrical activity in the bi-atrium. While speckle-tracking echocardiography revealed mildly reduced global longitudinal strain with impairment noted in the lateral myocardial segments, indicating potential injuries from ventricular demand pacing. Genetic test identified a compound heterozygous variant of SCN5A c.2431C>T and c.2893C>T. The protein structure of SCN5A has been built and named AF-P21333-F1, and the molecular function of the variant site has been annotated. Additionally, murine scRNA-seq data (GSE132658) revealed cardiac Scn5a expression is confined to the conductive bundles and fibres rather than cardiomyocytes, and the loss-of-function caused aggressive atrial standstill.

This case provides valuable insights into genotype-phenotype correlations in SCN5A-associated atrial standstill, emphasises the importance of comprehensive electrophysiological assessment during device implantation, and underscores considerations for physiological pacing strategies in paediatric patients requiring lifelong device dependency.