Pulmonary arterial hypertension associated with congenital heart disease (APAH-CHD) is a severely progressive condition with complex pathogenesis. The aim of this study was to evaluate the contribution of genetic variants to the development of PAH in patients with APAH-CHD. Fifteen children and twenty-seven adults diagnosed with APAH-CHD were enrolled. Targeted next-generation sequencing was performed on PAH-associated genes ( ABCC8 , ACVRL1 , AQP1 , ATP13A3 , BMPR2 , CAV1 , GDF2 , GGCX , EIF2AK4 , ENG , KCNK3 , KDR , KLK1 , SMAD1 , SMAD4 , SMAD9 , SOX17 , TBX4 , TET2 ). A total of 21 distinct variants across 11 different genes were detected in 17 of the 42 patients. ( ABCC8 = 2, ACVRL1 = 1, ATP13A3 = 2, BMPR2 = 4, GGCX = 1, EIF2AK4 = 2, ENG = 1, KDR = 3, SMAD1 = 1, SMAD9 = 1, TET2 = 3). Five of the patients with the mutation were under the age of 18, and 12 patients were adults. The most common CHD in patients with detected variants was VSD. PAH-related genetic variants were not uncommon in APAH-CHD patients. Our study identified 12 novel variants that may help to understand the genetic basis of APAH-CHD. Trial Registration The study has been registered on ClinicalTrials.gov with the identification number NCT05550389.

Background/aim: Vitamin D insufficiency is a common public health problem that is often unrecognized in children with congenital heart disease, and is not generally evaluated at congenital heart disease (CHD) follow-up. Recent studies have suggested that inadequate vitamin D status may have an adverse effect on cardiovascular health. This study investigates the relationship between vitamin D levels and hemodynamic parameters in children with CHD. Methods: Included in the study 40 patients (25 females, 15 males) with CHD, who were evaluated for Ross heart failure score, vitamin D, parathyroid hormone (PTH), calcium, phosphorus, alkaline phosphatase (ALP), whole blood count (WBC) and echocardiographic measurements, and all measurements were repeated in the third month of the therapy. Results: The mean vitamin D level was 16.4 ± 6.6 ug/L before and 27.5 ± 9.9 μg/L in the third month of therapy, while the mean PTH level was 53.3 ± 34.9 pg/mL before and 43.8 ± 21.4 pg/mL in the third month of therapy. The mean WBC was 8084 ± 2324/µL before and 7378±1893/µL in the third month of the therapy, and the mean platelet (PLT) count was 280,897 ± 80,119/µL before and 307,179 ± 60,202/µL in the third month of the therapy. The mean ejection fraction (EF) was 64% ± 7.2% before and 66.7% ± 6.2% in the third month of therapy, while the right ventricle (RV) myocardial performance index (MPI) was 32.1% ± 6.7% before and 28.9% ± 6.5% in the third month of the therapy. IL10 level was increased in four patients in the third month of therapy. A statistically significant decrease in PTH level and WBC, and an increase in PLT number and IL-10 level were detected by the therapy. Furthermore, echocardiographic findings revealed a statistically significant increase in EF and a decrease in RVMPI attributable to the therapy. Conclusion: The decreased levels of PTH, which is a proinflammatory marker, the increases in IL-10, which is an antiinflammatory cytokine, and the decreases in the number of WBC resulting from vitamin D treatment demonstrate the antiinflammatory effects of vitamin D. An improvement in EF means improvement in left ventricular contractility, while a decrease in RV MPI has been shown to improve the systolic and diastolic function of the right ventricle. These results suggest that vitamin D therapy has a positive effect on the heart, and so vitamin D levels should be evaluated during the routine follow-up of congenital heart disease.

Çocuklarda göğüs ağrısı genellikle kas-iskelet sistemi, solunum veya psikojenik kaynaklı olup ciddi bir kardiyak neden görülme oranı oldukça düşüktür. Tanı aşamasında detaylı bir öykü ve fizik muayene genellikle yeterli olurken, ağrının egzersizle ilişkili olması veya bayılma gibi belirtilerin eşlik etmesi durumunda ileri kardiyolojik değerlendirme gerekmektedir.Chest pain in children and adolescents is most commonly caused by non-cardiac issues, such as musculoskeletal conditions, while serious cardiac pathologies are identified in only 0% to 5% of cases. A thorough patient history and physical examination are typically sufficient to diagnose the underlying cause and provide necessary reassurance to concerned families.

Background/aim: Th evaluate the pre and post-treatment heart rate and oxygen (O-2) saturation values measured before, during and after 6MWT in children who received PAH-specific treatment and to determine the effect of these variables on prognosis. Materials and methods: This retrospective study included 29 patients who were diagnosed as PAH and treated. The transcutaneous O-2 saturation and heart rate levels were recorded before the test: baseline (Sat0, HR0), at the end of the test: exercise (Sal1, HR1) and 5 min after the test: recovery (Sat2, HR2). The increase in heart rate was defined as HR1-HR0 and the decrease in saturation as Sat0-Sat1. The results obtained before and after the PAH-specific treatment were analyzed and their effect on survival was assessed. Results: Fifteen of 29 patients were female (51.7%). The mean age was 127.2 +/- 44.8 months and the median follow-up time was 60 (12-156) months. Only pre-treatment HR1 was found associated with survival. The mean HR1 value of survivors was 122.8 +/- 18.4 and that of deceased 94.3 +/- 19.1 (p = 0.03). Post-treatment 6MWT was associated with survival. It was 453.3 +/- 96.5 in for survivors and 250 +/- 135.2 m for deceased (p = 0.02). Conclusion: Post-treatment 6MWT, FC and proBNP had prognostic value in pediatric patients with PAH. The decrease in saturation and increase in heart rate were not found to have a prognostic value. Pre-treatment HR1 was associated with survival. Identification of these prognostic factors at the beginning and throughout the treatment may be a guide for detecting the severity of the disease and follow-up.

Objective: Urinary tract infections (UTIs) are one of the most common bacterial infections in children and can lead to serious complications. This study aimed to investigate the clinical and microbiological characteristics of pediatric UTIs, identify factors associated with renal scarring, analyze trends in antibiotic resistance, and evaluate the impact of urinary anomalies and vesicoureteral reflux (VUR) on recurrence of infection and long-term outcomes.Material and Methods: In this retrospective study, 699 children followed up for UTI were evaluated. Clinical features, laboratory and imaging findings (Ultrasound, voiding cystourethrogram, DMSA renal scan), microbiological data, antibiotic resistance patterns and long-term complications were analyzed. Risk factors for renal scarring were assessed using multivariate logistic regression.Results: Out of the 699 patients followed for UTIs, 530 were female. The median age at the first UTI was 12 months. Renal ultrasonography was performed on all patients. Anomalies were detected in 15.7% of patients. E. coli was the predominant pathogen (82.6%). Renal scarring was detected in 15.7% of patients and was significantly associated with high-grade VUR, recurrent UTI, abnormal US findings, and fever ≥38°C. The prevalence of ESBL-producing bacteria was 2.4%, with ubstantialtly higher ciprofloxacin resistance (28%) compared to non-ESBL bacteria (7.5%). Over time, E. coli resistance to TMP-SMX and amoxicillin-clavulanate declined, whereas cefixime resistance slightly increased.Conclusion: Renal scarring in pediatric UTI is strongly associated with VUR severity, recurrent infections, and urinary tract anomalies. Antibiotic resistance remains a growing concern, particularly among ESBL-producing pathogens. Rational use of antibiotics and individualized risk-based prophylactic strategies are critical to minimizing long-term complications and resistance.