Search Results - E. N. Basargina

Dysplasia of the heart connective tissue among children includes atrioventricular valve prolapse, abnormally positioned cords, aneurysms of the interatrial septum. Dysplasia of the heart connective tissue draws steadfast attention of the pediatricians due to the high population recurrence and risks,...

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Pompe disease is a rare severe hereditary disease caused by excessive glycogen storage in organs and target tissues due to the acid α-glucosidase gene mutation. Infantile and adult Pompe disease is characterized by involvement of cardiovascular, respiratory and muscular systems in the pathological p...

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The article shows the effectiveness of the complex treatment (angiotensin converting enzymes inhibitors, blockers, diuretics and cardiac glycosides) in children with dilated cardiomyopathy with an early debut. The dynamic observation of changes in morphological and functional cardiac parameters was...

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The article is dedicated to the issue of curing children with obstructive form of hypertrophic cardiomyopathy. It presents a complex evaluation of adrenergic blockers influence on the clinical finding, heart rate disorder and vegetative regulation of heart rate, as well as prognosis for patients wit...

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The article is devoted to an important section of the pediatric cardiology — dilated cardiomyopathy (DCMP). This is largely due to the spread of the given disease, its possible progress and tendency to the formation of the chronic heart failure (CHF). The progress in the research of the DCMP'ac...

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Hypertrophic cardiomyopathy (HCMP) is a genetically determined myocardial disease, characterized by massive hypertrophy of the myocardium of the left and/or (rarely) the right ventricle, often associated with obstruction of the left ventricular outflow tract and diastolic dysfunction. The course of...

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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 chil...

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The results of research of thyroid condition and function in 82 children with dilated cardiomyopthy and arrhythmogenic dysfunction of myocardium without obvious thyropathy are submitted. Is shown that application of amiodaron results in induces predictable changes in thyroid function tests in 40% pa...

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The article provides an analysis of capabilities of magnetic resonance imaging with delayed contrast enhancement in diagnosing fibrotic alterations of varying severity. A hyperintense signal in the setting of myocardial delayed contrast enhancement programs indicates alterations of myocardial struct...

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Aim. To identify the proportion of restrictive cardiomyopathy (RCM), as well as cardiomyopathy (CMP) with a restrictive type of hemodynamics among all cases of genetic CMP and to determine the relative frequencies and spectrum of nucleotide variants in Russian children with RCM, as well as to search...

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Type I mucopolysaccharidosis (MPS) is a hereditary metabolic disease related to lysosomal storage diseases. Alpha-L-iduronidase enzyme deficiency leads to dissimilar disease phenotypes and varying severity of symptoms. Researchers distinguish between three phenotypes of the disease: Hurler syndrome...

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Left ventricular non-compaction (LVNC) is a rare, genetically and phenotypically heterogeneous disease, which is often accompanied by diagnostic difficulties.Aim. To demonstrate several generations of a family with LVNC with various clinical and phenotypic manifestations of the disease (dilated and...

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The article presents the results of clinical, instrumental and molecular genetic tests of three generations of a family with inherited cardiomyopathy caused by a new variant in the MYBPC3 gene. A specific feature of this case is the phenotypic heterogeneity of the mutation — a combination of hypertr...

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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 lon...

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The article presents the examination of three generations of a family with diagnosed left ventricular noncompaction (LVNC) and various phenotypic manifestations of the disease (isolated, hypertrophic and dilated type of LVNC). As a result of a molecular genetics tests, a previously undescribed singl...

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