Idiopathic dilated cardiomyopathy (DCM) is a common cardiomyopathy with the prevalence of 1:250, and at least one-third of all the cases are inherited. Mutations in the TTN gene are considered as the most frequent cause of inherited DCM and cover 10–30% of the cases. The studies were mainly focused on the adult or mixed age group of patients with DCM. The mutation rate in the TTN gene, the characteristics of manifestations and their prognostic significance in childhood have not been studied. To determine TTN mutation rate in children with DCM and the relevance of including this gene in the DNA diagnostic protocol for paediatric DCM, complete clinical and instrumental examination of 36 DCM patients (up to 18 years) with the manifestation of the disease was conducted in specialised cardiology centres. Molecular genetic testing included sequencing of coding and adjacent regulatory regions of the major cardiac TTN isoform N2BA using IonTorrent ™ semiconductor sequencing (for 25 isolated cases) and trio whole exome sequencing (trio WES)on the Illumina platform (for 11 family cases). Our pilot group included 36 probands with DCM diagnosis first established on the basis of the generally accepted criteria at the age of 5 days to 18 years(average age: 6.5 years). The sex ratio (M:F) was 23: 8. There were 25 sporadic DCM cases and 11 cases of familial DCM (at least one of the parents and/or siblings were also diagnosed with DCM). The only likely pathogenic truncating variant p.Arg33703*in the TTN gene (TTNtv) was found in a 16-year-oldmale proband out of 36 (3%). Apparently, TTN-dependent forms of DCMs manifest later at a young (but older than 18 years) or more mature age, and TTN gene cannot be considered as the first-line genetic testing for DCM in the paediatric group, despite several studies have reported a generally high mutation rate in this gene with DCM. Further research is needed to compare the representation of mutations in the TTN gene in different age groups of DCM patients.

The aim of the study is to find the best approaches to the treatment of infantile hemangiomas (IH). Materials and methods of research: the experience of treatment of pediatric patients with IH of various localization is presented, which was carried out according to the protocol elaborated by the authors. Systemic therapy with propranolol, local therapy, laser therapy were used in the complex of treatment. The age of patients at the beginning of therapy ranged from 1 month up to 4,5 years. Results: in all cases, patients with propranolol treatment showed a quick and stable effect. Even at the time of the selection of the dose of the drug, IH patients began to involute, became paler, less tense. The thickness of the soft tissues in the IH area decreased by 65% compared to the baseline, the number of functioning vessels decreased by 86%. The maximum effect was achieved within the first 6 months from the start of therapy. Clinical case report – a 2,5-year-old child with extensive hemangioma of the right buttock. There was a complex treatment with propranolol, local therapy, laser therapy. The general course of treatment with propranolol was 2 years 8 months. The total number of laser interventions was 6 with the overall effect in the form of maximum regression of residual clinical manifestations of IH. A positive clinical and ultrasound picture was noted, indicating a pronounced involution of IH, and a gradual withdrawal of propranolol was started. Conclusion: the effectiveness of a comprehensive interdisciplinary approach to the treatment of extensive complicated IH was demonstrated with the participation of specialists of various disciplines: pediatricians, cardiologists, surgeons, specialists in functional and ultrasound diagnostics, specialists in laser therapy, endocrinologists in a severe premature baby with a large number of somatic problems. The clinical treatment algorithm developed and implemented for patients with IH makes it possible to avoid more aggressive methods of treatment of this pathology and to improve the quality of life of this category of patients. On the basis on the results obtained, indications for laser therapy with a selective pulsed laser were formulated.

The article presents the first descriptions of observations in the Russian Federation, the difficult path to diagnosis in two young girls with diseases associated with mutations in the filamin A gene, characterized by damage to the central nervous system (periventricular nodular heterotopy), lungs (interstitial emphysematous lesion due to impaired growth), cardiovascular system (open arterial duct, high pulmonary hypertension, insufficiency of heart valves, large vessels). Clinical and anamnestic data, the results of laboratory and instrumental diagnostic methods, including molecular genetic ones, which allowed to identify unique, previously undescribed mutations, the characteristics of the course of the disease, the treatment being carried out, are presented.

The article analyzes the literature on the development of views on the definition, approaches to diagnostics and tactical measures in case of suddenly manifesting conditions in children of the first year of life, accompanied by respiratory failure, changes in muscle tone and skin color. The article contains data from the clinical guidelines of theAmericanAcademyof Pediatrics 2016. The above guidelines gave introduced a new term “brief resolved unexplained event” (BRUE) and distinguished two groups of infants – with low and high risk of unfavorable outcome. The article contains a definition of a “life-threatening event”, which refers to events in children of the first year of life who have experienced a rapidly resolved unexplained condition and met the criteria of low risk. The authors describe the approaches to the diagnosis and prevention of pseudo-life-threatening events in infants. The authors call the pediatric community to discuss and present their own view on the problem of definition and tactical measures necessary for identifying quickly resolved unexplained events in children of the first year of life who meet the criteria of low risk.

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