Browsing by Author "Zec, Boris (58156051700)"

Cardiovascular (CV) manifestations are common (35%–100%) in the multisystem inflammatory syndrome in children. Our study aimed to analyze treatment impact and CV involvement in patients with multisystem inflammatory syndrome in children. The retrospective cohort included 81 patients treated between April 2020 and December 2021 (9.3 ± 4.6 years). Elevated cardiac troponin I and pro-B-type natriuretic peptide were observed in 34.2% and 88.5% of patients, respectively. Myocardial dysfunction was observed in 50.6%. Children older than 10 years had a 4-fold increased risk of myocardial dysfunction (odds ratio [OR] 3.6, 95% confidence interval [CI] 1.4–8.9; p = 0.006). A moderate negative correlation was proved between left ventricular ejection fraction and C-reactive protein (rr = −0.48; p < 0.001). More than one-fifth of the patients presented with shock. Coronary artery dilatation was observed in 6.2% of patients. Mild pericardial effusion was detected in 27.1% of children. On standard electrocardiogram, 52.6% of children had negative T waves in the inferior and/or precordial leads; transient QTc prolongation was registered in 43% of patients. Treatment failure was observed in 19 patients. Patients initially treated with intravenous immunoglobulins had 10-fold higher chances for treatment failure than patients treated with corticosteroids (OR 10.6, 95% CI 3.18–35.35; p < 0.001). CV manifestations were observed in more than half of the patients, with acute myocardial dysfunction being the most common, especially in children older than 10 years. We established a negative association between the degree of elevation of inflammatory markers and left ventricular ejection fraction. Patients treated with intravenous immunoglobulins who had CV manifestations had treatment failures more frequently than patients treated with corticosteroids. © 2022 Krasic et al.

Cardiovascular (CV) manifestations are common (35%–100%) in the multisystem inflammatory syndrome in children. Our study aimed to analyze treatment impact and CV involvement in patients with multisystem inflammatory syndrome in children. The retrospective cohort included 81 patients treated between April 2020 and December 2021 (9.3 ± 4.6 years). Elevated cardiac troponin I and pro-B-type natriuretic peptide were observed in 34.2% and 88.5% of patients, respectively. Myocardial dysfunction was observed in 50.6%. Children older than 10 years had a 4-fold increased risk of myocardial dysfunction (odds ratio [OR] 3.6, 95% confidence interval [CI] 1.4–8.9; p = 0.006). A moderate negative correlation was proved between left ventricular ejection fraction and C-reactive protein (rr = −0.48; p < 0.001). More than one-fifth of the patients presented with shock. Coronary artery dilatation was observed in 6.2% of patients. Mild pericardial effusion was detected in 27.1% of children. On standard electrocardiogram, 52.6% of children had negative T waves in the inferior and/or precordial leads; transient QTc prolongation was registered in 43% of patients. Treatment failure was observed in 19 patients. Patients initially treated with intravenous immunoglobulins had 10-fold higher chances for treatment failure than patients treated with corticosteroids (OR 10.6, 95% CI 3.18–35.35; p < 0.001). CV manifestations were observed in more than half of the patients, with acute myocardial dysfunction being the most common, especially in children older than 10 years. We established a negative association between the degree of elevation of inflammatory markers and left ventricular ejection fraction. Patients treated with intravenous immunoglobulins who had CV manifestations had treatment failures more frequently than patients treated with corticosteroids. © 2022 Krasic et al.

Objectives: The bicuspid aortic valve (BAV) is the most common congenital heart defect. Patients with BAV frequently develop aortopathy, which depends on the dysfunction and morphotype of the BAV. Aim: The aim of our study was to compare the echocardiography and cardiac magnetic resonance (CMR) findings in BAV patients, and to define the risks of BAV dysfunction and aortopathy. Methods: The retrospective study included 50 patients (68% male) with BAV, with an average age of 13.6 ± 3.9 years, who underwent a transthoracic echocardiographic examination and CMR at our institute from 2012 to 2020. Results: The BAV types were evaluated significantly differently by echocardiography and CMR (p = 0.013). 54% of patients had BAV insufficiency on echo and 70% on echo CMR. It was more prevalent in males, older patients, and patients with a higher body surface area. By comparing the degree of insufficiency measured by echo (1+, IQR 0–1), and CMR (0, IQR 0–1), a significant difference was observed (p = 0.04), while a moderate positive correlation was proved (rr = 0.4; p = 0.004). Stenosis was registered in 44% of patients by echo, while 58% had stenosis on CMR. The peak pressure gradient measured by echo was significantly higher than the velocity on CMR (41, IQR 22.7–52.5 mmHg vs. 23, IQR 15.5–35.0 mmHg; p = 0.002). Aortopathy was registered in 76% of patients on echo and 78% on CMR; 38% of patients had severe aortic dilatation on echo and 54% on CMR (p = 0.003). Patients with BAV stenosis on echo had more frequent dilatation of the tubular ascending aorta (15/24 pts; p = 0.02). All patients with BAV insufficiency on CMR had aortopathy (p = 0.04) and had enlargement of the sinus of Valsalva and sinotubular junction. In patients with associated coarctation, the development of aortopathy occurred less frequently than those without coarctation (7/39 vs. 32/39; p = 0.003). The Bland-Altman method, a specific type of scatterplot that is used to visualize the results of comparing two measures, demonstrated the existence of agreement between the two methods, and a level of agreement between the methods of 95% was demonstrated. Conclusion: Our study indicated significant differences in the measured BAV morphotype and dysfunction when comparing the two diagnostic methods. On the other hand, moderate to strong correlations were found in the evaluated parameters, which indicates the importance of performing noninvasive diagnostic procedures in the follow-up of these patients. 2024 Krasic, Zec, Topic, Popovic, Nesic, Zdravkovic and Vukomanovic.

Background: Noonan syndrome (NS) is a congenital genetic disorder with a prevalence of 1 in 1000 to 2500 live births, and is characterized by distinctive facial features, short stature, chest deformities, and congenital heart disease. This study aims to evaluate the prevalence of specific genetic mutations and their impact on cardiovascular and other outcomes in NS. Methods: We conducted a retrospective clinical study of 25 pediatric patients diagnosed with NS at two institutions: The Mother and Child Health Care Institute of Serbia and the Clinic for Children Diseases, University Clinical Center of the Republic of Srpska. Patients underwent whole-exome sequencing (WES) to identify genetic mutations. Clinical data, including cardiovascular manifestations, psychomotor development, and stature, were analyzed in relation to mutation types. Results: The cohort comprised 60% male and 40% female patients, with a median age at diagnosis of 7.2 years. Cardiovascular abnormalities were present in 88% of patients. Mutations in PTPN11 were most commonly associated with pulmonary valve stenosis (PVS), while RAF1 mutations were prevalent in patients with hypertrophic cardiomyopathy (HCM). No significant association was found between cardiac disease and delayed psychomotor development (p = 0.755), even though the likelihood ratio showed significance in that regard (p = 0.018). Short stature was observed in 48% of patients but was not significantly correlated with genetic type of disease, presence of cardiac disease, or developmental delay. Conclusions: The study confirms the high prevalence of cardiovascular manifestations in NS and highlights genotype–phenotype correlations. While cardiac abnormalities are common, their impact on psychomotor development and stature is less clear. Further research is needed to explore genetic interactions influencing these outcomes and refine clinical management strategies. © 2024 by the authors.

Background: Noonan syndrome (NS) is a congenital genetic disorder with a prevalence of 1 in 1000 to 2500 live births, and is characterized by distinctive facial features, short stature, chest deformities, and congenital heart disease. This study aims to evaluate the prevalence of specific genetic mutations and their impact on cardiovascular and other outcomes in NS. Methods: We conducted a retrospective clinical study of 25 pediatric patients diagnosed with NS at two institutions: The Mother and Child Health Care Institute of Serbia and the Clinic for Children Diseases, University Clinical Center of the Republic of Srpska. Patients underwent whole-exome sequencing (WES) to identify genetic mutations. Clinical data, including cardiovascular manifestations, psychomotor development, and stature, were analyzed in relation to mutation types. Results: The cohort comprised 60% male and 40% female patients, with a median age at diagnosis of 7.2 years. Cardiovascular abnormalities were present in 88% of patients. Mutations in PTPN11 were most commonly associated with pulmonary valve stenosis (PVS), while RAF1 mutations were prevalent in patients with hypertrophic cardiomyopathy (HCM). No significant association was found between cardiac disease and delayed psychomotor development (p = 0.755), even though the likelihood ratio showed significance in that regard (p = 0.018). Short stature was observed in 48% of patients but was not significantly correlated with genetic type of disease, presence of cardiac disease, or developmental delay. Conclusions: The study confirms the high prevalence of cardiovascular manifestations in NS and highlights genotype–phenotype correlations. While cardiac abnormalities are common, their impact on psychomotor development and stature is less clear. Further research is needed to explore genetic interactions influencing these outcomes and refine clinical management strategies. © 2024 by the authors.