A5028085640- Cardiomyopathy and Myosin Studies
- Congenital heart defects research
- Congenital Heart Disease Studies
- Cardiovascular Effects of Exercise
- Galectins and Cancer Biology
- Biochemical and Molecular Research
- Protein Tyrosine Phosphatases
- Cardiac Arrhythmias and Treatments
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
- Blood Coagulation and Thrombosis Mechanisms
- RNA and protein synthesis mechanisms
- Atrial Fibrillation Management and Outcomes
- Nutrition and Health in Aging
- Metabolism and Genetic Disorders
- Cardiovascular Function and Risk Factors
- Cardiac pacing and defibrillation studies
- Lysosomal Storage Disorders Research
- RNA modifications and cancer
- Heart Failure Treatment and Management
- Signaling Pathways in Disease
- Trypanosoma species research and implications
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Human Health and Disease
Center for Children
2019-2024
Scientific Center of Children's Health
2015-2023
Ministry of Health of the Russian Federation
2022-2023
Kurchatov Institute
2020
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left dysfunction, which characterized by two-layer structure of the myocardium and an increased number trabeculae. The study familial forms LVNC helpful for risk prediction genetic counseling relatives. Here, we present family consisting three members LVNC. Using next-generation sequencing approach combination two (likely) pathogenic nonsense mutations DSG2-p.S363X TBX20-p.D278X was identified in...
Aim. To analyze and demonstrate various phenotypes in patients with familial left ventricular noncompaction (LVNC). Materials methods. In 2013 was created a multicenter registry of LVNC patients. On its basis 30 families were selected. Results. selected from the register. From total 115 people (probands relatives) 71 (61.7%) diagnosed (30 probands 41 relatives non-compact myocardial criteria). The most common type remodeling dilated (DT) (n=30), isolated preserved ejection fraction (EF)...
The article provides information on disorders of nutritional status (malnutrition) in children with chronic heart failure (congenital diseases, cardiomyopathy), discusses the causes growth retardation and to thrive. factors risk deficiency development possibility its correction use products a specially given composition. It is presented clinical observation an infant congenital disease, aortic coarctation patent ductus arteriosus, 2B-A st. severe malnutrition. using specialized formula for...
Barth syndrome (BS) is an orphan disease whose variability of clinical manifestations does not always allow its timely diagnosis, which in turn reduces the quality medical care and worsens prognosis for outcomes. Currently there are some scientific publications Russia on isolated cases none a kind dedicated to long-term observation patients with assessment picture. The purpose this research was analyze dynamics children BS. Materials methods used: cohort study included 9 boys BS 2015-2022....
Introduction. Generalized infantile arterial calcification (IAC) is a rare autosomal recessive disease. The diagnosis of IAC associated with great difficulties due to the variability clinical manifestations. high mortality rate in patients at onset disease early childhood characterized limited possibilities drug treatment. Aim: present two reports concerning genetically verified long-term catamnestic follow-up (from 2016 2023). Results. When coronary vessels are affected IAC, pronounced...
The article presents the results of clinical, instrumental and molecular genetic tests three generations a family with inherited cardiomyopathy caused by new variant in MYBPC3 gene. A specific feature this case is phenotypic heterogeneity mutation — combination hypertrophic left ventricular non-compaction members. Attention drawn to various severity clinical manifestations relatives carriers mutation: from asymptomatic severe heart failure acute cerebrovascular accident.
The article presents the examination of three generations a family with diagnosed left ventricular noncompaction (LVNC) and various phenotypic manifestations disease (isolated, hypertrophic dilated type LVNC). As result molecular genetics tests, previously undescribed single nucleotide deletion in PRDM16 gene was revealed all members LVNC phenotype, leading to frameshift mutation exon 9 formation premature termination codon. This encodes transcription factor responsible for after-birth...
Aim. To identify the proportion of restrictive cardiomyopathy (RCM), as well (CMP) with a type hemodynamics among all cases genetic CMP and to determine relative frequencies spectrum nucleotide variants in Russian children RCM, search for phenogenotypic correlations. Material methods. The study included 689 CMPs. All underwent molecular testing target regions 419 genes responsible various cardiomyopathies channelopathies using method massively parallel sequencing (MPS). Results. In 668...
The few foreign papers of the last decade have shown relationship various pathogenic variants ELAC2 gene to heterogeneous phenotypic manifestations, for which unfavorable prognosis is common, caused by severe cardiomyopathy in first year life. article presents clinical observation a rare variant hypertrophic phenotype with fatal outcome life, and c.887T>C, p.L296P c.1979A>T, p.K660I Russia. purpose work present child an early manifestation gene.
Objective. To analyze clinical and instrumental characteristics of sleep disorders in children with cardiomyopathies (CMPs). Patients methods. We performed retrospective analysis clinical, laboratory, parameters 107 CMPs aged 2 to 17 years treated the National Medical Research Center Children's Health 2018–2019. The study sample was formed accordance inclusion criteria (confirmed diagnosis CMP functional class I or II, NYHA Ross R.D.) exclusion (age <2 years, other heart vascular...
Aim. To justify the need of nutritional status assessment and correction in children with congenital heart disease. Methods. Clinical examination, somatometric methods (height, weight, head chest circumference measuring) were used. Anthropometric data evaluated using WHO Anthro, AnthroPlus (2009) programm. The following parameters analyzed: weight/age, weight/height, height/age, body mass index/age. Results. review summarizes existing on etiology pathogenesis protein-losing enteropathy its...
The thrombotic complications develop in 3,6–13% of children with congenital heart defects the postoperative period, which makes diagnosis and prevention thrombosis relevant. Permanent risk factors include carriage mutations/polymorphic variants genes, leading to an imbalance procoagulant anticoagulant hemostatic systems. In some cases, after cardiac surgery are prescribed anticoagulants, warfarin is most commonly used vitamin K antagonist, can cause warfarin-associated skin necrosis as a...
A long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a hereditary disease referred to the group of disorders mitochondrial β-oxidation fatty acids. The inheritance mechanism autosomal recessive. several main symptoms include hypoglycemia, liver steatosis, cardiomyopathy, cardiac arrhythmias, progressive muscle hypotension. Laboratory signs relative increase in concentration acids, as determined by tandem mass spectrometry. Also, characteristic feature low rate free carnitine (C0),...
About 80-90% of patients with Noonan syndrome have changes in the cardiovascular system, 30% which include cardiomyopathy, hypertrophic phenotype particular. The treatment cardiomyopathy is carried out according to clinical recommendations for chronic heart failure (CHF) and cardiomyopathy. Surgical progressive nature left ventricular outflow tract obstruction mitral regurgitation can be one possible methods. review presents our experience septal myectomy (SM) children suffered from...
PRKAG2 syndrome is a rare genetic disease that isinherited in an autosomal dominant fashion and caused by mutationsin the gene. Clinical symptoms include early onset, ventricular preexcitation, cardiac hypertrophy, progressive atrioventricular block. The characterized heterogeneity, which makes detection difficult; genophenotypic correlations have been documented. In this article, we provide overview of literature data experience from cardiology department National Medical Research Center...
Introduction. Pompe disease (PD) or type II glycogenosis is a rare multisystem hereditary accumulation caused by deficiency of the enzyme acid maltase (acid alpha-1,4-glucosidase), which leads to reduced activity glycogen in various organs and tissues body. The aim study develop high-performance method early biochemical diagnosis PD optimization its molecular genetic diagnosis. Materials methods. characteristics relative frequencies spectrum detected mutations were studied using sample 7670...
Introduction. Noonan syndrome is a clinically and genetically heterogeneous disease with multiple organ involvement associated mutations in the genes of RAS/MAPK signalling pathway. Most patients syndrom (up to 50–80%) have disorders cardiovascular system, presented by wide range congenital heart defects and/or cardiomyopathy, predominantly hypertrophic phenotype. Thanks introduction high-throughput sequencing, knowledge genetic causes has expanded significantly, so since 2014, LZTR1 gene...
Objective. To evaluate the results of 72-hour monitoring Holter electrocardiograms with telemetry in children hypertrophic cardiomyopathy (HCM). Patients and methods. A randomized retrospective study 55 confirmed diagnosis HCM was conducted on basis Federal State Autonomous Institution Ministry Health Russian Federation "National Children Medical Research Center"; all patients were hospitalized cardiology department for examination treatment period 2021–2023. The included 33 boys 22 girls...
Introduction. In 2006, the American Heart Association identified two main groups of cardiomyopathies (CM) as primary and secondary, referring to CM heart diseases genetic, acquired or mixed etiology, secondary — pathological involvement myocardium a part systemic pathology.
 Aim: determine most common phenocopies hypertrophic (HCM) in children, due accumulation substances present their differences.
 Materials methods. Instrumental diagnostic methods (echocardiography,...
Introduction. Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency) is an autosomal recessive disease from the heterogeneous group of disorders mitochondrial β-oxidation fatty acids caused by mutations in ACAD9 gene. The characterized a wide range clinical manifestations, most common which are metabolic acidosis, hypertrophic cardiomyopathy, muscle hypotonicity, and impaired motor skills. article presents first Russian observation rare variant cardiomyopathy with early...
Introduction. Warfarin-induced skin necrosis constitutes a rare complication of warfarin treatment. Aim . To present case study the occurrence and successful treatment atypical warfarin-induced in child with congenital heart disease. General findings The development finger disease almost 2 years after start therapy was described. In addition, possible causes methods for its were discussed. Conflict interest : authors declare no conflict interest. Financial disclosure had sponsorship
Dilated cardiomyopathy in children is a very serious disorder with poor outcome. However, clinical practice has shown that young have higher capability to recover cardiac function, which requires an active approach the prescription of drug therapy. Currently, combined therapy chronic heart failure, including ACE inhibitors, beta-blockers, aldosterone antagonists, diuretics, demonstrates high efficiency reducing severity failure symptoms, and improving or stabilizing laboratory instrumental...