Mitochondrial defects can lead to cardiomyopathies, which can be particularly severe in children. However, many cases of pediatric cardiomyopathy have no known etiology. To address this, we sought to explore if mitochondrial genome defects might be a contributor, as this could offer insights into disease mechanisms and guide targeted interventions. We first sequenced cardiomyopathy-related genes in twenty-seven pediatric patients diagnosed with primary non-syndromic cardiomyopathy and performed whole mtDNA sequencing in both patients and thirty-one healthy controls. The initial sequencing identified pathogenic variants in seven patients but subsequent mtDNA sequencing revealed additional insights. Specifically, a variant in FOXRED1, encoding FAD-dependent oxidoreductase domain-containing protein-1 which functions in mitochondrial complex I stability, and another variant in cytochrome c oxidase-I, MT-CO1, crucial for aerobic metabolism, were identified in two siblings with hypertrophic cardiomyopathy. In another case with hypertrophic cardiomyopathy, a variant in cytochrome b, MT-CYB, is likely a key factor in the abnormal contraction of cardiac muscle contraction. Furthermore, a novel 12 S rRNA variant was found in a patient with left ventricular non-compaction, and this offers a promising explanation for the pathogenesis, given the gene’s high expression in the left ventricle. Taken together, mtDNA variants act synergistically with others, potentially disrupting myocardial bioenergetics.

Objective: In the present study, for which reasons fetal cardiac evaluation was requested from our pediatric cardiology clinic, the effects of routine fetal cardiac evaluation in obstetric ultrasonography (USG) on the detection of congenital heart disease (CHD) and the distribution of intrauterine diagnosis of CHD according to pregnancy risk profiles were retrospectively analyzed. Materials and Methods: Fetal echocardiography reports which containing the nineteen-month period were retrospectively examined. We performed a fetal echocardiography for all pregnant women who were referred to pediatric cardiology clinic after detail obstetric USG screening. The pregnancies were categorized into two groups based on the risk of CHD: Low-risk and high-risk groups. Detected congenital cardiac structural malformations were classified as complex, moderate, and mild according to perinatal mortality risk. Results: Of the 736 pregnancies, 22 were twin, and fetal cardiac evaluation was performed in 758 fetuses. There were 341 (46.3%) pregnancies in the high-risk group and 395 (53.6%) pregnancies in the low-risk group. The most common reason for fetal cardiac evaluation request was inability to adequately visualize the fetal heart (36.1%), while suspected fetal cardiac abnormality was the second most common cause (21.3%). Number of fetuses detected with cardiac abnormalities was 80 (23.5%) among high-risk pregnancies, and 20 (5%) among low-risk pregnancies. The most common type of malformation was simple cardiac abnormalities (6%) followed by complex lesions (4.1%). The most common cardiac abnormality was ventricular septa! defect comprised of 18 cases (2.4%) while the most common complex cardiac abnormality was pulmonary atresia (1.2%). The rate of consistency was 40.1% between obstetricians and pediatric cardiologist in terms of the diagnosis of the congenital cardiac malformations. Conclusion: Routine evaluation of the fetal heart by means of obstetric USG, including four chambers, outflow tracts' and three vessel views, would allow for diagnosing congenital cardiac malformations to a large extent during the intrauterine period.

Aim We aimed to determine the relationship of Pro-BNP levels, with the diagnosis, clinical, and laboratory parameters in children. In addition, the predictive power of the Pro-BNP levels in determining the cardiovascular events was evaluated. Patients and methods: This study comprised 829 patients whose levels of Pro-BNP were measured. The data were obtained retrospectively from the hospital records. The relationship of the Pro-BNP level of the patients with the clinical, laboratory, and echocardiographic data was determined. The predictive power of the Pro-BNP and Troponin T levels in determining the development of cardiovascular events was evaluated. Results: Cardiovascular events developed in 143 patients during the follow-up period. The Pro-BNP levels were observed to be significantly higher (p< 0.001) in the group in which patients developed cardiovascular events. The Pro-BNP levels demonstrated a positive correlation with both Troponin T levels and procalcitonin levels and a strong negative correlation with the age, height, and weight of the patients. The most important predictive factors for determining the development of cardiovascular events were the presence of tachypnea, increased Pro-BNP levels, increased left ventricular end-diastolic diameter, and increased tricuspid regurgitation velocity. Conclusion: The most important determinants of a cardiovascular event, as revealed in the present study, are the presence of tachypnea, Pro-BNP levels, TR velocity, and the LVEDD z-score of patients. Moreover, the Pro-BNP levels and Troponin levels demonstrate a strong positive correlation. Randomized prospective studies are warranted to improve the efficacy of using Pro-BNP in differentiating cardiac and non-cardiac diseases in children.

Background Supraventricular tachycardia (SVT) is a common arrhythmia in pediatric patients. Emerging evidence suggests a link between systemic inflammation and cardiovascular diseases. Objectives This study aims to investigate the relationship between the monocyte/lymphocyte ratio (MLR) and neutrophil/lymphocyte ratio (NLR) with SVT in pediatric patients. Methods: We conducted a retrospective study at Rize Education and Research Hospital’s Pediatric Health and Diseases Department, including 33 patients diagnosed with SVT and 33 control subjects without sinus tachycardia. Hemogram (CBC) parameters, electrocardiography (ECG), [...] Abstract Background Supraventricular tachycardia (SVT) is a common arrhythmia in pediatric patients. Emerging evidence suggests a link between systemic inflammation and cardiovascular diseases. Objectives This study aims to investigate the relationship between the monocyte/lymphocyte ratio (MLR) and neutrophil/lymphocyte ratio (NLR) with SVT in pediatric patients. Methods: We conducted a retrospective study at Rize Education and Research Hospital’s Pediatric Health and Diseases Department, including 33 patients diagnosed with SVT and 33 control subjects without sinus tachycardia. Hemogram (CBC) parameters, electrocardiography (ECG),