A5025872751- Cardiomyopathy and Myosin Studies
- Cardiovascular Function and Risk Factors
- Healthcare Systems and Public Health
- Congenital heart defects research
- Cardiovascular Effects of Exercise
- Muscle Physiology and Disorders
- Cardiac Imaging and Diagnostics
- Viral Infections and Immunology Research
- Cardiac Structural Anomalies and Repair
- Obstructive Sleep Apnea Research
- Neurogenetic and Muscular Disorders Research
- Cardiac Health and Mental Health
- Nuclear Structure and Function
- Heart Failure Treatment and Management
- Blood Pressure and Hypertension Studies
- Neuroscience of respiration and sleep
- Cardiac pacing and defibrillation studies
- Nutrition and Health in Aging
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Lysosomal Storage Disorders Research
- GDF15 and Related Biomarkers
- Cellular Mechanics and Interactions
- Chronic Obstructive Pulmonary Disease (COPD) Research
National Research Center for Preventive Medicine
2013-2024
Lomonosov Moscow State University
2023
Ministry of Health of the Russian Federation
2023
Создание руководства поддержано Советом по терапевтическим наукам отделения клинической медицины Российской академии наук.
Here, we present a small Russian family, where the index patient received diagnosis of left-ventricular non-compaction cardiomyopathy (LVNC) in combination with skeletal myopathy. Clinical follow-up analysis revealed LVNC phenotype also her son. Therefore, applied broad next-generation sequencing gene panel approach for identification underlying mutation. Interestingly, DES-p.A337P was identified genomes both patients, whereas only carried DSP-p.L1348X. DES encodes muscle-specific...
Genetic cardiomyopathies (CMP) are a group of diseases characterized by myocardial pathology not caused hypertension, coronary artery disease, congenital and acquired defects. Development imaging methods molecular genetic diagnostics showed that the traditional phenotypic classification does fully meet modern needs due to presence clinical, morphological genotypic "crossing" CMP. At same time, in recent years, data have been obtained showing substrate has significantly higher prognostic...
Aim. To study the structure of concomitant cardiovascular and comobid pathology, risk factors in patients with arterial hypertension (AH), coronary heart disease (CHD), congestive failure (CHF) atrial fibrillation (AF), to evaluate quality diagnostics treatment conditions real outpatient-polyclinic practice by Registry Ryazanskaya region – a RF high level mortality. Material methods. Into registry RECVAZA (Registry diseases) totally 3690 included AH, CHD, CHF, AF their comorbidity, who...
Left ventricular noncompaction (LVNC) cardiomyopathy is a disorder that can be complicated by heart failure, arrhythmias, thromboembolism, and sudden cardiac death. The aim of this study to clarify the genetic landscape LVNC in large cohort well-phenotyped Russian patients with LVNC, including 48 families (n=214). All index underwent clinical examination analysis, as well family members who agreed participate and/or testing. testing included next generation sequencing classification...
Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations left ventricular hypertrabeculation (LVHT). Here, we performed a clinical examination and subsequent genetic analysis family, two individuals presenting LVHT conduction disease myopathy. The revealed novel small in-frame deletion within the gene, p.Q113_L115del, affecting α-helical rod domain. Immunohistochemistry explanted...
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely mutation in the desmosomal genes. However, there is significant number without positive familial anamnesis. Therefore, molecular reasons for ACM these are frequently unknown and genetic contribution might be underestimated. Here, we used next-generation sequencing (NGS) approach addition single nucleotide polymor-phism (SNP) arrays analysis two independent index medical history. Of note, this strategy...
Hypertrophic cardiomyopathy (HCM) at the cellular level is characterized by hypertrophy, cardiomyocyte disorganization and myocardial fibrosis areas. The leading death cause in HCM remains sudden cardiac (SCD). Despite existing risk scores for SCD HCM, there are still patients with uncertain risk. In addition, cases also recorded among low-risk patients. From above, search novel markers a more accurate assessment should be continued. Fibrosis currently suspected to substrate of potentially...
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated three-generation family cardiomyopathy and various extracardiac abnormalities that had long sought precise diagnosis. The 41-year-old proband hypertrophic (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, short stature. His sister showed HCM, hypertrabeculation sensorineural deafness, congenital genitourinary malformations. Their father...
Регистр кардиоваскулярных заболеваний (РЕКВАЗА): диагностика, сочетанная сердечно-сосудистая патология, сопутствующие заболевания и лечение в условиях реальной амбулаторно-поликлинической практики Бойцов С. А. 1 , Лукьянов М
Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study accumulation genotype–phenotype correlations are way to improve precision our diagnostics. We present familial case LVNC arrhythmic thrombotic complications, myocardial fibrosis heart failure, cosegregating splicing variant FHOD3 gene. This first...
Aim.To estimate risk factors and comorbidity structure, cardiovascular diseases outcomes, evaluate their diagnostics treatment quality in real outpatient practice using a register of patients with arterial hypertension (HT), ischemic heart disease (IHD), chronic failure (CHF) atrial fibrillation (AF) the Ryazan Region -the territorial subject Russian Federation high mortality rate.Material methods.The total 1000 HT, IHD, CHF, AF patients, applied for general practitioners or cardiologists...
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...
The redistribution of body composition components in heart failure (CHF) is an urgent and poorly understood issue. Despite the significant impact a decrease muscle mass, fat mass on course prognosis HF, rarely taken into account treatment this disease. In regard, purpose review was to systematize available data draw attention clinicians problem. presented make it possible consider as controllable factors, normalization which improves patients with HF. study pathophysiological mechanisms for...
Aim. To perform clinical and instrumental examination genetic testing using the method of exome sequencing proband his relatives 1 2 degrees kinship with myofibrillary myopathy non-compaction cardiomyopathy. Material methods . The object study: cardiomyopathy kinship. All participants underwent including: blood collection for testing, complete cell count, biochemical assay (levels total protein, alanine-aminotransferase, aspartate aminotransferase, lactate dehydrogenase, bilirubin, urea,...
Aim. To evaluate, under the frame of prospective registry, 12-month outcomes and risks in patients with arterial hypertension (AH), ischemic heart disease (CHD), chronic failure (CHF) atrial fibrillation (AF) real outpatient practice Ryazan Region. Material methods. Into registry RECVASA (REgistry CardioVAScular diseases) totally 3690 included AH, CHD, CHF, AF their comorbidity, visited 3 institutions Ryzan city: 1047 (28%) men 2643 women, mean age 66,1±12,9 y.o. The estimation 12-mint risk...
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 presents the case report of a rare hereditary form systemic ATTR-amyloidosis in Russian patient with discussion approaches to diagnosis and treatment this form, also based on own experience management such patients. Modern ideas about pathogenesis disease as well detailed information clinical manifestations amyloid cardiopathy other organs are presented. nature structural hemodynamic changes heart is discussed basis experience, including own, ultrasound examination patients...
Variants of the MYH7 gene have been associated with a number primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases MYH7-related diseases are such variant types as missense substitutions and in-frame indels. Thus, truncating variants in (MYH7tv) mechanism haploinsufficiency usually considered not pathogenic these disorders. However, recent large-scale studies demonstrated evidence significance MYH7tv for LVNC gave rise to an assumption that may...
Left ventricular non-compaction (LVNC) is a rare, genetically and phenotypically heterogeneous disease, which often accompanied by diagnostic difficulties. Aim. To demonstrate several generations of family with LVNC various clinical phenotypic manifestations the disease (dilated isolated types LVNC) an identified rs397516387 variant TPM1 gene. Material methods . Based on multicenter registry "Myocardial Non-compaction", familial form was selected. Next generation sequencing (NGS) performed...
Aim. To demonstrate two generations of a family with progressive course left ventricular non-compaction (LVNC) and the presence RBM20 gene variant. Material methods . Based on multicenter registry patients LVNC, LVNC dilated phenotype was selected at National Medical Research Center for Therapy Preventive Medicine. Next generation sequencing performed Nextseq 550 systen (Illumina, USA). For clinical interpretation, nucleotide sequence variants in genes associated development were according...
Aim. To assess the clinical and anamnestic characteristics, prescription rate of angiotensin converting enzyme inhibitors (ACEI)/angiotensin receptor blockers (ARB) β-blockers in outpatient practice, adherence to drug therapy patients with a combination chronic heart failure (CHF), hypertension (HT) history myocardial infarction (MI) frame Cardiovascular Disease Registry (RECVASA). Material methods. Data analysis groups CHF, HT MI (n=406) ischemic disease (IHD) without (n=1897) was performed...
Noncompacted myocardium of the left ventricle (NMLV), or noncompacted cardiomyopathy, according to World Health Organization classification is a non-classified cardiomyopathy with not fully known origins. This type presents an increased trabecularity deep intertrabecular sinuses in LV. NMLV exists as either isolated together other inherited syndromes. Clinical presentation varies: there are asymptomatic forms, those progression disease, heart failure, angina, thromboembolism,...