Aim. To identify the features of the diseases associated with myocardial hypertrophy, for an earlier differential diagnosis to determine the treatment tactics and to initiate the early treatment. Methods. Clinical examination, family history, cardiac ultrasound with Doppler, ECG, 24-hour ECG monitoring, and computed tomographic aortography and genetics counseling (if indicated) were preformed. Results. During 14 years of observations, 92 patients were included, among them: children with idiopathic hypertrophic cardiomyopathy - 49 (53%), followed by children with Noonan syndrome - 11 (11.9%), Pompe disease - 6 (6.5%), hypertension - 6 (6.5%), Leopard syndrome - 5 (5,4%), Friedrich ataxia - 4 (4.3%), Danon disease - 3 (3.2%), cardiofaciocutaneous syndrome, fatty acids beta-oxidation disorder and mucopolysaccharidosis type I (Hurler syndrome) - 2 (2.1%), carnitine deficiency and GM1-gangliosidosis - 1 (1.2%). Conclusion. Consudering the possibilities of modern medicine, diagnosis of left and/or right ventricular hypertrophy in pediatric general practice and pediatric cardiology is an important factor for the subsequent diagnostic search, earliest possible specific therapeutic interventions to prevent unfavorable outcomes of the diseases.

Many orphan diseases in children require life-long and regular intravenous enzyme replacement therapy. The article describes the first Russian practice of implanting venous port systems in 12 patients with type I and II mucopolysaccharidosis and Pompe disease (6 months to 17 years old) to create long-term venous access. Currently, implantable venous port systems are used in 9 (75%) of 12 patients. 4 cases of thrombosis are observed in 3 patients. All of them have been successfully treated. 1 patient had a rotation of the port camera with a membrane facing downwards due to violation of an implantation technique. The camera was adjusted during the second operation.

сердечной недостаточности у детей. В статье представлены собственные результаты изучения роли NT-proBNP в диагностике некомпактного миокарда. Выявлено, что содержание NT-proBNP в сыворотке крови детей с результаты могут быть полезны врачу в клинической некомпактный миокард, NT-proBNP, сердечная недостаточность, диагностика, дети. фармакология. 9 65–69) Non-compacted myocardium is a rare congenital cardiomyopathy. Due to the lack of uniform criteria, diagnostics of this condition is complicated presently, which results in over-diagnosing. N-terminal pro-brain natriuretic peptide (NT-proBNP) is a marker of chronic cardiac insufficiency (CCI) in children. The results of the study of NT-proBNP in non-compacted myocardium diagnostics are represented in this article. It was established, that serum NT-proBNP levels were higher in children with non-compacted myocardium than in children with CCI and without this disorder (р < 0,01). The received data can be useful in clinical practice.