Challenges of Diagnosing Congenital Heart Defects — Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery

Background. Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) also known as Bland — White — Garland syndrome is a rare congenital heart defect that affects 1 in every 300 000 newborns, thus comprising 0.22% of all congenital heart defects and 0.4–0.7% of critical congenital heart defects. In case of a more favorable disease course, symptoms typically appear between the 1st and 2nd months after birth. The ECG may show typical signs of ischemia, myocardial infarction, and left ventricular hypertrophy. The EchoCG is more informative as it enables the visualization of coronary artery orifices. Surgical correction is the only treatment method for this heart defect.Case report. Patient G.S.V., one month of age, was admitted to the neonatal pathology unit. Based on the physical examination the patient’s condition was severe. The skin was pale with cyanosis of the nasolabial triangle. The respiration rate was accelerated (50–52 breaths per minute) with the indrawing of the intercostal spaces. The displacement of the apex beat 1 cm to the left of the left midclavicular line was revealed by palpation. The displacement of the left border of the relative cardiac dullness to the anterior axillary line was revealed by percussion. Upon auscultation, the first heart sound at the heart apex was decreased, and there was a blowing systolic murmur radiating to the left anterior axillary line. Upon examination the child was diagnosed with severe acute acquired non-rheumatic diffuse viral bacterial carditis. The lack of improvement in the child’s condition following the myocarditis treatment and the examination results were suggestive of the anomalous coronary artery. The child was transferred by emergency to the Penza Federal Center of Cardiovascular Surgery where the diagnosis was confirmed.Conclusion. Despite being rare, this congenital heart defect may be diagnosed in clinical pediatric practice. A thorough record of complaints and medical history is an important step in its early diagnosis, and the presence of signs of heart failure requires additional examination. In case of suspected myocardial lesions, presence of high troponin levels and other markers of myocardial injury in the blood, ECG signs of myocardial ischemia and lack of improvement despite the treatment conducted, pathologic changes in the coronary arteries must be ruled out.

Memorable and Anniversary Dates of Russian Pediatrics in 2021

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National Medical Research Center for Children’s Health

Background. The clinical course of bronchial asthma (BA) in children is often mild. However, in real-world clinical practice it may not always be possible to attain complete control of BA symptoms. In the majority of cases cessation of basic therapy with inhaled corticosteroids (ICS) leads to a poorer BA control in spite of satisfactory general health status in patients. As a result of incomplete BA control, children demonstrate impaired activities of daily living, decreased daily physical activity and gradual reduction or withdrawal of sports participation and other activities. Under the conditions of restricted everyday activities children with mild BA and in the absence of continuous anti-inflammatory basic therapy may feel comfortable without any complaints. This may result in faulty evaluation of asthma as well controlled, which can cause disease progression.Case report. All the above mentioned situations are exemplified by the case report of a youngster suffering from mild bronchial asthma. Also, this article clearly demonstrates the significance of use of asthma control test (ACT) in real-world clinical practice in order to work out a strategy for asthma management. Besides, the role of taking a detailed medical history for correct assessment of mild BA symptom control is demonstrated. In a given clinical example we managed to evaluate, in a short space of time, everyday life changes of a youngster with mild BA (an increase in daily activities and improved quality of life) following administration of basic therapy with ICS.Conclusion. This case report demonstrates the significance of correct assessment of BA control regardless of severity of disease, in our case mild asthma, and shows its role in conducting proper basic therapy and achieving improvement of child’s quality of life.

Abstracts of Participants of the X ALL-Russian Scientific-Practical Student Conference «Mazurin Readings». Part 2

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A prognostic model for thrombotic complications after pediatric cardiac surgery

Background. Cardiac surgery performed on pediatric patients with the use of artificial blood circulation (ABC) is accompanied by hemodilution, hypothermia and blood contact with artificial surfaces, as well as surgical trauma. All the above lead to endothelial cell injury, platelet aggregation and degranulation, activation of innate immunity, development of systemic inflammation and consumption of clotting, anti-coagulation and fibrinolytic factors, which is ultimately associated with the occurrence of thrombotic complications.Objective. The study aimed at developing a mathematical model for the prognosis of thrombotic complications in children which had undergone the ABC, based on assessment of their clinical and laboratory parameters.Methods. We have assessed clinical and laboratory data obtained from 153 children (newborn to 11 months 29 days of age) which had undergone cardiac surgery under conditions of ABC due to congenital heart defects (CHD). For all patients the general clinical and laboratory parameters: complete blood count, comprehensive metabolic panel, parameters of screening coagulogram, D-dimer concentration, von Willebrand factor activity, levels of antithrombin III, plasminogen, protein C and protein S, alpha-2-antiplasmin, thrombin activatable fibrinolysis inhibitor (TAFI) and fibrin-monomer have been assessed.Results. In 43 patients (28.1%) post-operative thromboses have been diagnosed. Examination of children revealed the presence of thrombosis of various localization including the intracardiac thrombi, ischemic cerebrovascular events, limb ischemia, etc. Based on logistic regression analysis, a model of development of thrombotic complications has been built which included 4 parameters: activity of lactate dehydrogenase (LDH), TAFI activity, von Willebrand factor activity and protein C activity. Model sensitivity was 95.3%, and its specificity — 96.4%.

Children who have cytolysis syndrome in debut of genetic diseases: analysis of primary morbidity

Background. Cytolysis syndrome often helps to suspect liver pathology. However, a rare genetic disease may manifest under the guise of increased transaminases. No true etiology of the disease is then identified with the standard examination algorithm. It is not recognized for a long time. Patients diagnosed with unspecified hepatitis receive irrational treatment, which in turn leads to deterioration in the quality of medical care.Purpose. To analyze the medical history, laboratory test results and list of clinical symptoms in pediatric patients with genetic diseases in the debut, and to correlate an identified symptom complex with increased transaminases.Methods. The article presents the results of a retrospective study of 17 randomly selected cases of children with a first established diagnosis of Duchenne — Becker muscular dystrophy, glycogen storage disease, mucopolysaccharidosis followed up in 2010–2019. We used data from patient complaints, anamnesis vitae and anamnesis morbi, laboratory test results and list of clinical symptoms in the debut of genetic diseases. The statistical processing was performed by using parametric and nonparametric methods. Confirmation of the diagnosis was obtained by molecular genetic techniques and the test for expression of urine glycosaminoglycans. Confirming diagnostic technologies were used in the laboratory of molecular diagnostics and the laboratory of inherited metabolic diseases at the Bochkov Research Centre for Medical Genetics (Moscow).Results. A comparative analysis of medical history and clinical and laboratory data was performed in 9 patients with Duchenne — Becker muscular dystrophy, 5 patients with glycogen storage disease, and 3 children with mucopolysaccharidosis. Prolonged neonatal jaundice was observed in 22.2% of newborns with Duchenne muscular dystrophy. In myopathies, elevated transaminases originate from destroyed muscle fibers and are not associated with the breakdown of the liver cells. This fact is also confirmed by our discovery of a direct correlation between AST (r = 0.76) and ALT (r = 0.72) values with high activity of creatine phosphokinase (CPK), p < 0.05. Prolonged neonatal jaundice was observed in 40% of children with glycogen storage disease. Hepatomegaly was detected in all cases, due to which the volume of the abdomen increases giving a specific form to patients against the background of overweight, lag in physical development due to low growth in 80% of cases and a “puppet face” in 100% of children. There is strong correlation between the increased alkaline phosphatase and AST (r = 0.78), ALT (r = 0.81), p < 0.05. In the third group, there are three children with mucopolysaccharidosis. We did not find any significant increase in transaminases in this group of children.Conclusion. Against the background of progressive Duchenne — Becker muscular dystrophy, hyperenzymemia is detected in each male patient. There is correlation between elevated transaminases and high creatine phosphokinase. Cytolysis syndrome was found only in some cases of glycogen storage disease, and hyperenzymemia occurs against the background of typical clinical symptoms of the disease. In cases of mucopolysaccharidosis we have found no elevated transaminases, but there is hepatomegaly. In case of prolonged unexplained cytolysis syndrome, the pediatrician should conduct a diagnostic search to identify or exclude genetic diseases.

Metabolic activity of gut microbiota in children during their first year of life which had undergone partial bowel resection

Background. Studying the metabolic activity of gut microbiota has diagnostic value as it allows determination of the extent of microbiota perturbation, which is an important indicator of the post-operative gastrointestinal tract function.Objective. The study aimed at investigating the metabolic activity of gut microbiota in children during their first year of life which had undergone partial bowel resection.Methods. The spectrum of fecal short chain fatty acids (SCFA) was assessed using gas-liquid chromatography (GLC). Also, a comparative analysis of clinical and anamnestic data in children of the first year of life which had undergone partial bowel resection versus apparently healthy children was carried out.Results. Dynamic follow-up of children which had undergone bowel surgery revealed a reduction in acetic acid (С2) fecal level and increased propionic acid (С3) and oleic acid (С4) levels by the end of the first year of life. An age-adjusted comparative estimate has shown that the markers of anaerobic microflora, specifically, the level of propionic acid, are also high at the age of 7–12 months. A comparative analysis of metabolic activity of gut microbiota in children which had undergone bowel resection revealed lower fecal levels of oleic acid and higher total fatty acid content as compared to healthy children.Conclusion. Children which had undergone bowel resection, by the end of first year of life, have higher anaerobic and lower aerobic activity of gut microflora. A comparative analysis of metabolic activity of gut microflora in children which had undergone surgical treatment versus children of health groups I and II demonstrated the absence of significant differences between obligate (С2) and anaerobic (С3, anaerobic index [AI]) bacteria. However, lower fecal С4 values have been found in post-operative children during their second half-year of life, which may attest to persistent inflammation of the gut. Total fecal acid content throughout the entire follow-up period was higher in children which had undergone bowel resection, which reflects the activation of gut microbiota characterized by its species diversity.

The echographic characteristics of structural and functional development of organs and systems in children born with low birth weight, very low birth weight and extremely low birth weight

Over the past decade, an increase in the survival rate of children born with low birth weight, very low birth weight, and extremely low birth weight has been observed in Russian Federation, which is due to transition to new live birth criteria. Premature infants are exposed to a number of adverse factors that have a negative impact on the development of organs and systems, which, in turn, can lead to the occurrence of acute and chronic diseases in various age periods. Therefore, neonatologists and pediatricians are dealing with a new cohort of small children who have particular features of physical and neuropsychological development which may lead to severe debilitating diseases. This review article surveys previous studies evaluating the echographic characteristics of structural and functional development of the urinary, cardiovascular and endocrine systems as a function of body weight at birth and gestational age, and in different age periods.