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The aim of this paper is to present a patient with the Smith-Lemli-Opitz syndrome (SLOS), with an overview of the modality of diagnosis, and the treatment of the patient. Exome analysis showed two variants in exon 6 of the 7-dehydrocholesterol reductase (DHCR7) gene have been determined: missense variant 1) NM_001360.2: c.470T>C (p.Leu157Pro) and 2) nonsense variant c.452G>A (W151*). Therefore the DHCR7 genotype of the patient is NM_001360.2: c.[470T>C; c.452G>A]. The proband, aged 6 years, has global developmental retardation with missing contact gaze and lacking motor development for her age and with peripheral spastic-enhanced muscle tone, and is under the supervision of children neurologists, gastroenterologists, nephrologists and cardiologists.

Background: Left atrial strain (LAS) analysis represents a newer non-invasive, sensitive and specific technique for assessing left atrial (LA) function and early detection of its deformation and dysfunction. However, its applicability in mitral regurgitation (MR) in pediatric population remains unexplored, raising pertinent questions regarding its potential role in evaluating the severity and progression of the disease., Objective: To investigate the impact of chronic MR in children and adolescents on LA remodeling and function., Methods: The study included 100 participants. Patients with primary and secondary chronic MR lasting at least 5 years fit our inclusion criteria. The exclusion criteria from the study were: patients with functional mitral regurgitation due to primary cardiomyopathies, patients with artificial mitral valve, patients with MR who had previously undergone surgery due to obstructive lesions of the left heart (aortic stenosis, coarctation of the aorta), patients with significant atrial rhythm disorders (atrial fibrillation, atrial flutter). The echocardiographic recordings were conducted by two different cardiologists. Outcome data was reported as mean and standard deviation (SD) or median and interquartile range (Q1-Q3)., Results: The study included 100 participants, of whom 50 had MR and the remaining 50 were without MR. The average age of all participants was 15.8 ± 1.2 years, with a gender distribution of 37 males and 63 females. There was a significant difference in the values of LA volume index (LAVI), which were higher in patients with MR (p= 0.0001), S/D ratio (and parameters S and D; p= 0.001, p= 0.0001, p= 0.013), mitral annulus radius (p= 0.0001), E/A ratio (p= 0.0001), as well as septal e' (m/s), lateral e' (m/s), and average E/e' ratio, along with the values of TV peak gradient and LV global longitudinal strain (%). There was no significant difference in LA strain parameters, nor in LA stiffness index (LASI)., Conclusion: Our findings revealed significant differences in several echocardiographic parameters in pediatric patients with MR relative to those without MR, providing insight into the multifaceted cardiac structural and functional effects of MR in this vulnerable population.

Background: Left atrial stiffness index (LASI), defined as the ratio of early diastolic transmitral flow velocity/lateral mitral annulus myocardial velocity (E/e') to peak atrial strain, reflects reduced left atrial (LA) compliance and represents an emerging marker that can be used for noninvasive measurement of fibrosis of LA in patients with mitral regurgitation (MR)., Objective: To investigate the impact of chronic MR in children and adolescents on the remodeling and function of the LA, quantified through strain parameters and diastolic function., Methods: The study included fifty patients (n= 50) diagnosed with primary and secondary chronic MR lasting at least 5 years. The echocardiographic recordings were performed by a third party, two cardiologists actively engaged in echocardiography on a daily basis., Results: Older participants had higher values of the LASI (r= 0.467, p= 0.001). Participants with higher LASI values had a smaller LA reservoir (r= 0.784, p= 0.0001) and smaller LA conduit values (r=-0.374, p= 0.00). Participants with higher LASI values had a larger LA diameter (r= 0.444, p-value= 0.001) and higher average E/e' ratio (r= 0.718, p= 0.0001). There was a significant difference (p= 0.04) in the LASI among participants based on the MR jet area (< 20.85% ⩾ 20.85%), LASI was higher in participants with an area greater than 20.85%. Differences in other parameters such as LA reservoir, LA conduit, LA contractile were not statistically significant., Conclusion: Increased LA stiffness is associated with diminished atrial compliance and reservoir capacity, and LASI has a potential to as an early marker for assessing disease severity and progression in pediatric MR.

Background: Following the latest trends in the development of artificial intelligence (AI), the possibility of processing an immense amount of data has created a breakthrough in the medical field. Practitioners can now utilize AI tools to advance diagnostic protocols and improve patient care., Objective: The aim of this article is to present the importance and modalities of AI in maternal-fetal medicine and obstetrics and its usefulness in daily clinical work and decision-making process., Methods: A comprehensive literature review was performed by searching PubMed for articles published from inception up until August 2023, including the search terms "artificial intelligence in obstetrics", "maternal-fetal medicine", and "machine learning" combined through Boolean operators. In addition, references lists of identified articles were further reviewed for inclusion., Results: According to recent research, AI has demonstrated remarkable potential in improving the accuracy and timeliness of diagnoses in maternal-fetal medicine and obstetrics, e.g., advancing perinatal ultrasound technique, monitoring fetal heart rate during labor, or predicting mode of delivery. The combination of AI and obstetric ultrasound can help optimize fetal ultrasound assessment by reducing examination time and improving diagnostic accuracy while reducing physician workload., Conclusion: The integration of AI in maternal-fetal medicine and obstetrics has the potential to significantly improve patient outcomes, enhance healthcare efficiency, and individualized care plans. As technology evolves, AI algorithms are likely to become even more sophisticated. However, the successful implementation of AI in maternal-fetal medicine and obstetrics needs to address challenges related to interpretability and reliability.

Background: Left atrial (LA) strain analysis has emerged as a noninvasive technique for assessing LA function and early detection of myocardial deformation. Recently, its application has also shown promise in the pediatric population, spanning diverse cardiac conditions that demand accurate and sensitive diagnostic measures., Objective: This research article endeavors to explore the role of LA strain parameters and contribute to the growing body of knowledge in pediatric cardiology, paving the way for more effective and tailored approaches to patient care., Methods: A comprehensive literature review was conducted to gather evidence from studies using echocardiographic strain imaging techniques across pediatric populations., Results: LA strain parameters exhibited greater sensitivity than conventional atrial function indicators, with early detection of diastolic dysfunction and LA remodeling in pediatric cardiomyopathy, children with multisystem inflammatory syndrome, rheumatic heart disease, as well as childhood renal insufficiency and obesity offering prognostic relevance as potential markers in these pediatric subpopulations. However, there remains a paucity of evidence concerning pediatric mitral valve pathology, justifying further exploration., Conclusion: LA strain analysis carries crucial clinical and prognostic implications in pediatric cardiac conditions, with reliable accuracy and sensitivity to early functional changes.

Objectives: Prenatal cardiology is a part of preventive cardiology based on fetal echocardiography and fetal interventional cardiology, which facilitates treatment of congenital heart defects (CHD) in pediatric patients and consequently in adults. Timely prenatal detection of CHD plays a pivotal role in facilitating the appropriate referral of pregnant women to facilities equipped to provide thorough perinatal care within the framework of a well-structured healthcare system. The aim of this paper is to highlight the role of left atrial strain (LAS) in prenatal evaluation of fetal heart and prediction of structural and functional disorders., Methods: We conducted a comprehensive literature review searching PubMed for articles published from inception up until August 2023, including the search terms "left atrial strain", "fetal echocardiography", and "prenatal cardiology" combined through Boolean operators. In addition, references lists of identified articles were further reviewed for inclusion., Results: Our review underscores the significance of LAS parameters in fetal echocardiography as a screening tool during specific gestational windows (starting from 11 to 14 weeks of gestation, followed by better visualization between 18 and 22 weeks of gestation). The left atrial strain technique and its parameters serve as valuable indicators, not only for identifying cardiac complications but also for predicting and guiding therapeutic interventions in cases of both cardiac and noncardiac pregnancy complications in fetuses. Evidence suggests establishment of second-trimester reference strain and strain rate values by speckle-tracking echocardiography in the healthy fetal cohort is essential for the evaluation of myocardial pathologies during pregnancy., Conclusions: Finding of LAS of fetal heart is feasible and probably can have potential for clinical and prognostic implications., (© 2023 Walter de Gruyter GmbH, Berlin/Boston.)

The most common clinical sign in pediatric cardiology is heart murmur, which can often be uncharacteristic. The aim of this research was to present the results of development of a classifier based on machine learning algorithms whose purpose is to classify organic murmur that occur in congenital heart defect (CHD). The study is based on the data collected at Pediatric Clinic, Clinical Center University of Sarajevo during three-year period. Totally, 116 children aged from 1 to 15 years were enrolled in the study. Input parameters for classification are parameters obtained during basic physical examination and assessment of patient. First, analysis of relevance of the feature for classification was done using InfoGain, GainRatio, Relief and Correlation method. In the second step, classifiers based on Naive Bayes, Logistic Regression, Decision Tree, Random Forest and Support Vector Machine were developed and compared by performance. The results of this research suggest that high accuracy (>90%) classifier for detection of CHD based on 16 parameters can be developed. Such classifier with appropriate user interface would be valuable diagnostic aid to doctors and pediatricians at primary healthcare level for diagnostic of heart murmurs.

Background: In postmenopause there are changes in metabolism of bone tissue and consequent decrease of bone density. With ageing redistribution of fat occurs and an increase in body weight. Because of hormone changes in postmenopause fat is redistributed from gluteofemoral area to the abdominal region., Objective: The objective of this study was to examine the relationship between bone density and a body mass index (BMI), and distribution of the fat tissue in women in postmenopause (WHR)., Methods: This research was prospective, and it included total of 83 women, 53 women were in the natural postmenopause and 30 women with the regular menstruation., Results: BMI in women in postmenopause was statistically significantly higher than BMI in women with the regular menstruations (p= 0,005). There was no statistically significant difference between waist hip ratio in women in the postmenopause in relation to the women with the regular menstruations. In women in the postmenopause significant positive correlation between BMI and density of the neck of femur was found (Z and T-score) (p=0,019; p=0,005). There was also significant negative correlation between the WHR and density of the lumbal spine (backbone) in women in the postmenopause (Z-score) (p=0,043). The identical analysis in women with regular menstruations, negative correlation between the density of the lumbal spine was found again (Z-score) and WHR , but the same was highly expressed (p=0,041). The observed correlation between BMI and bone density in this group of women was not statistically significant., Conclusion: Based on the presented results we conclude that the higher the BMI (p=0,019; p=0,005) the higher density of the femoral neck postmenopausal women have, and lower bone density of the lumbar spine the higher ratio waist / hip (p = 0.043). In the women with regular menstruation bone density of the lumbar spine is the lower the higher the ratio of waist and hip (p=0,041), while there was no correlation between BMI and bone density in this group of women., Competing Interests: There are no conflicts of interest., (© 2021 Zumra Begic, Mirzeta Rizvanovic.)

Background: Alzheimer's disease is a complex disorder of unclear etiology that develops in the elderly population. It is a debilitating, progressive neurodegeneration for which disease-modifying therapies do not exist. Previous studies have suggested that, for a subset of patients, dysregulation in hemostasis might be one of the molecular mechanisms that ultimately leads to the development of neurodegeneration resulting in cognitive decline that represents the most prominent symptomatic characteristic of Alzheimer's disease., Objective: To examine a relationship between factors that are part of coagulation and anticoagulation pathways with cognitive decline that develops during Alzheimer's disease., Methods: SOMAscan assay was used to measure levels of coagulation/anticoagulation factors V, VII, IX, X, Xa, XI, antithrombin III, protein S, protein C, and activated protein C in plasma samples obtained from three groups of subjects: 1) subjects with stable cognitively healthy function, 2) subjects with stable mild cognitive impairment, and 3) subjects diagnosed with probable Alzheimer's disease., Results: Our results show that protein levels of coagulation factor XI are significantly increased in patients who are diagnosed with probable Alzheimer's disease compared with cognitively healthy subjects or patients diagnosed with mild cognitive impairment. Furthermore, our results demonstrate that significant predictors of Alzheimer's-type diagnosis are factors IX and XI-an increase in both factors is associated with a reduction in cognitive function., Conclusion: Our study justifies further investigations of biological pathways involving coagulation/anticoagulation factors in relation to dementia, including dementia resulting from Alzheimer's-type neurodegeneration.

Background: The aim of the study was to highlight the importance of adequate anticoagulant therapy and the correlation of higher risk of stroke., Methods: This study analyzed data obtained from 103 patients with diagnosis of atrial fibrillation (AF) (39 of them had a stroke). Patients were divided into groups according to the CHADS 2 , CHA 2 DS 2 -VASc, and HASBLED scores., Results: An analysis showed that anticoagulant drugs were more often prescribed to subjects <75 years of age ( P = 0.001). Patients with a higher CHADS 2 score had a higher CHA 2 DS 2 -VASc score and vice versa (rho = 0.513; P = 0.0001). According to the CHA 2 DS 2 -VASc, 91.3% of the patients examined were prescribed an anticoagulant medication as a therapy at discharge from the hospital. The result was statistically significant compared to the practice where an anticoagulant was prescribed to 55.9% of high-risk subjects as estimated by the CHA 2 DS 2 -VASc score ( P < 0.05). Our results also show that rivaroxaban is more commonly prescribed as a discharge therapy than warfarin (χ 2 = 12.401; P = 0.0001). Furthermore, a significantly higher number of patients who were being prescribed aspirin (38.5%) had a stroke compared to 12.8% of patients who were being prescribed warfarin (χ 2 = 12.259; P = 0.0001)., Conclusions: Novel oral anticoagulants (NOACs) seem to be a better choice as a pharmacological therapy in the treatment of AF, due to a lack of adequate monitoring of patients' international normalized ratio (INR) values. CHA 2 DS 2 -VASc and HASBLED scores must be used as a part of routine clinical diagnostics when dealing with patients with AF., Competing Interests: There are no conflicts of interest.

Alzheimer's disease represents the most common age-related neurodegenerative disorder and a leading cause of progressive cognitive impairment. Predicting cognitive decline is challenging but would be invaluable in an increasingly aging population which also experiences a rising cardiovascular risk. In order to examine whether plasma measurements of one of the established biomarkers of heart failure, brain natriuretic peptide (BNP), reflect a decline in cognitive function, associated with Alzheimer's disease neurodegeneration, BNP levels were analysed, by using a novel assay called a SOMAscan, in 1. cognitively healthy, control subjects; 2. subjects with mild cognitive impairment, and 3. subjects with Alzheimer's disease. The results of our study show that the levels of the BNP were significantly different between the three types of diagnoses (p < 0.05), whereby subjects with mild cognitive impairment had the lowest mean BNP value, and healthy subjects had the highest BNP value. Importantly, our results show that the levels of the BNP are influenced by the presence of at least one APOE4 allele in the healthy (p < 0.05) and in the Alzheimer's disease groups of subjects (p < 0.1). As the levels of the BNP appear to be independent of the APOE4 genotype in subjects with mild cognitive impairment, the results of our study support inclusion of measurements of plasma levels of the BNP in the list of the core Alzheimer's disease biomarkers for identification of the mild cognitive impairment group of patients. In addition, the results of our study warrant further investigations into molecular links between Alzheimer's disease-type cognitive decline and cardiovascular disorders., Competing Interests: The authors have declared that no competing interests exist.

Aim: The aim of this paper was to present a 65 year old female patient with chronic heart disease, surgically treated for congenital heart defect type Tetralogy of Fallot., Case Report: In the sixth year of life the patient underwent palliative Potts anastomosis surgery which created an anastomosis between the left pulmonary artery and the descending aorta. Total correction was made in 34 years of life, six months after catheterization, which indicated malignant pulmonary hypertension. She is regularly followed up by the cardiologists and receives daily therapy. The present state of the patient is satisfactory with cardiomegaly, light left ventricular dysfunction, moderate mitral and tricuspid regurgitation, pulmonary arterial hypertension, and aneurysmatic dilatation of left pulmonary artery as well as atrial fibrillation., Conclusion: The intense development of cardiology and cardiac surgery in the USA in children and adults over the last fifty years has led to the extension and improvement of the quality of life.

Objective: Demonstration of idiopathic dilated cardiomyopathy with unusual flow, unpredictable clinical picture and complex therapy., Case Report: Patient A.P., female, 38 years old, had symptoms of dilated cardiomyopathy (with possible infectious myocarditis in the background) at age 17. After hospitalization for ten months and ten days, while waiting for heart transplantation (with threatening death outcome), without a clearly pronounced threatening arrhythmia, but with a low ejection fraction and a poor general condition, remission occurred. The therapy focused primarily on the treatment of heart failure, prevention of arrhythmia and thromboembolism. Normalization of the disease by improving the function of the left ventricle (expected in 16% of patients) occurred and lasted for 4 years, followed by an exacerbation of the disease that lasted for two years. In the next few years the patient was stable, had a first child with normal pregnancy. During the second trimester of the second pregnancy, there was an exacerbation (postpartum dilatation cardiomyopathy) lasting for couple of months. At the time of case report (May 2017), the patient is stable on therapy (ACE inhibitor, beta blocker, diuretics, If channel blocker), without limitation of physical capacity, mother of two children, unemployed., Conclusion: The clinical course of dilated cardiomyopathy is extremely unpredictable and therapy is very complex and demanding.

Pediatrics is defined as the science of a healthy and sick child from birth to end of adolescence. Diseases of the cardiovascular system are the leading causes of mortality in adults, with frequent onset in childhood. The cardiologic examination starts with anamnesis in a pleasant atmosphere, refined space, enough time and patience, detailed measurements, and preferably a noncrying child. Anamnesis, regardless of the development of diagnostic procedures, still constitutes the basis of every clinical examination. The basic characteristics of pediatric cardiac anamnesis are comprehensiveness, that is, details, clarity, concurrency, and chronology. Proper and conscientiously taken anamnesis with a thorough clinical examination of a sick child is a solid protection against dehumanizing the relationship between a physician and patient. Pediatric cardiac anamnesis can be variable, completely negative, but very rich. Anamnesis should, first of all, clarify whether only a child is sick or it is perceived like that be his or her environment. Preschool and school-age children are normally attending anamnesis. High-quality, comprehensive medical history can keep the patient at one level of health care, with a strict focus primarily on the diagnostic processes, reduce crowds in specialist and subspecialist institutions, and make economic savings. A large number of patients in specialist and subspecialist clinics can be reduced by proper screening and by developing primary health-care system (from the local health-care center). Taking patient's medical history with thoroughness has a strong educative character for young doctors at the beginning of their careers., Competing Interests: There are no conflicts of interest.

Introduction: Accidental murmurs occur in anatomically and physiologically normal heart. Accidental (innocent) murmurs have their own clearly defined clinical characteristics (asymptomatic, they require minimal follow-up care)., Aim: To point out the significance of auscultation of the heart in the differentiation of heart murmurs and show clinical characteristics of accidental heart murmurs., Material and Methods: Article presents review of literature which deals with the issue of accidental heart murmurs in the pediatric cardiology., Results: In the group of accidental murmurs we include classic vibratory parasternal-precordial Stills murmur, pulmonary ejection murmur, the systolic murmur of pulmonary flow in neonates, venous hum, carotid bruit, Potaine murmur, benign cephalic murmur and mammary souffle., Conclusion: Accidental heart murmurs are revealed by auscultation in over 50% of children and youth, with a peak occurrence between 3-6 years or 8-12 years of life. Reducing the frequency of murmurs in the later period can be related to poor conduction of the murmur, although the disappearance of murmur in principle is not expected. It is the most common reason of cardiac treatment of the child, and is a common cause of unreasonable concern of parents., Competing Interests: • Conflict of Interest: none declared.