A5010011802- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Cardiac electrophysiology and arrhythmias
- Viral Infections and Immunology Research
- Williams Syndrome Research
- Congenital heart defects research
- Neurogenetic and Muscular Disorders Research
- Cardiovascular Function and Risk Factors
- Cardiac Arrhythmias and Treatments
- Ion channel regulation and function
- Congenital Heart Disease Studies
- RNA Research and Splicing
- Electric Motor Design and Analysis
- Trypanosoma species research and implications
- Neuroscience and Neural Engineering
- Genetic Neurodegenerative Diseases
- Connective tissue disorders research
- Protein Tyrosine Phosphatases
- Glycogen Storage Diseases and Myoclonus
- Sports injuries and prevention
- RNA and protein synthesis mechanisms
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
2015-2024
Institute of Cytology and Genetics
2019
The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation CVRF clinical characteristics of patients with HCM enrolled in EURObservational Research Programme (EORP) Cardiomyopathy registry.1739 were hypertension (HT), diabetes (DM), body mass index (BMI), traits was analysed. Analyses stratified according presence or absence a pathogenic variant sarcomere gene. prevalence HT, DM, obesity (Ob)...
Aim To study the clinical course of mixed phenotype (hypertrophic cardiomyopathy, HCMP, and left ventricular noncompaction, LVNC); to determine its genetic causes; evaluate incidence cardiovascular complications (CVC) during follow-up period. Material methods In screening 286 patients with 8 them (2.8 %; median age, 41.5 years; 4 men women) from unrelated families were found have (combination HCMP LVNC). For their 10 first-degree relatives, most frequent was without LVNC; however, both...
AIM: of the study was to evaluate clinical and genetic characteristics, including development adverse events outcomes in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT).
 MATERIALS AND METHODS: The phenotype eight CPVT, two whom were relatives probands, observed over 4 years. instrumental included ECG-12, 24-hour Holter ECG monitoring, genealogical history collection family sudden cardiac death (SCD), transthoracic echocardiography magnetic resonance imaging...
Aim . To analyze the correlation between genotype and phenotype in patients with biventricular arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods The clinical of 9 unrelated probands (89 % men, median age 35 [34; 37]) ARVC were observed. instrumental examination included a 12-lead ECG, 24-hour Holter ECG monitoring, transthoracic echocardiography cardiac magnetic resonance imaging late gadolinium enhancement. Biventricular variant was diagnosed according to 2020 Padua criteria...
AIM: The study was to evaluate the clinical and genetic characteristics of inherited arrhythmias in patients who survived unexplained cardiac arrest. MATERIALS AND METHODS: 20 (10 male 10 female) aged 15 55 years (median age 36 [28; 44] years) with documented VT/VF on ECG were observed for 3 years. instrumental included registration 12-lead ECG, 24-hour Holter genealogical history collection family sudden death assessment all members, transthoracic echocardiography, 2D Speckle Tracking...
The aim of the study is to evaluate clinical characteristics, including adverse events and outcomes, in patients with various genetic types long QT syndrome (LQTS). Material methods . We examined 24 a diagnosis LQTS, observed for 5 years. instrumental included registration electrocardiography (ECG), Holter monitoring, collection genealogical history an ECG assessment all family members identification cases sudden cardiac death (SCD) or presence form disease, echocardiography magnetic...
Aim. The assessment of clinical presentation HCMP in patients having mutations the sarcomere protein genes. Material and methods. In 11 with hypertrophic cardiomyopathy (HCMP) we performed analysis instrumental data search for coding sequences genes ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNI3, TNNT2 и TPM1 via sequencing method (next-generation (NGS). Results . is described, HCMP, provided complications development during period follow-up proteins: Arg403Trp, Lys847del Arg1712Trp (gene MYH7);...
Purpose . To evaluate the genotype-phenotype association in Belarusian patients with non-compaction cardiomyopathy (NCCM) and clinically significant ventricular arrhythmias. Materials methods The study included 170 unrelated NCCM prospectively observed RSPC “Cardiology” for 36 months. [6; 42,0], who underwent 24-hour Holter ECG monitoring 12 months after entering study. median age of was 42 [18; 69] years, men – 63,2%. arrhythmic phenotype NCСM diagnosed by presence unexplained syncope;...
AIM: To evaluate the clinical characteristics of patients with diverse genetic variants Brugada syndrome.
 MATERIALS AND METHODS: 24 (17 male and 7 female) aged 18 to 55 years (median age 32.5 [20; 42] years) a pattern syndrome on electrocardiogram were observed for 3 years. From their ECGs, type 1 was found in 9 (37.5%) these patients, 2 14 (58.3%) only patient. The instrumental study included 12-lead electrocardiogram, 24-hour Holter monitoring, provocative drug test intravenous...
Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form glycogenosis, which characterized by left ventricular hypertrophy, similar to phenotype hypertrophic cardiomyopathy, associated with pre-excitation ventricles and conduction disorders. The caused mutations in gene PRKAG2 encoding for 5’Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically its y2 regulatory subunit, inheritance — autosomal dominant. A review literature data clinical observation two...
Abstract Purpose to analyze life-threatening events during follow-up in patients with non-compaction cardiomyopathy (NCCM) who have mutations the genes responsible for functioning of ion channels. Methods study included 64 unrelated pts (aged 38.63 ± 14.72 years, 34/53.12% male, LVEF 43.02 8.65%) criteria NCCM confirmed by imaging techniques (echocardiography (Jenni) and cardiovascular magnetic resonance (Petersen). Mutation search was carried out next generation sequencing (NGS). Pathogenic...
Abstract Background Identification of pts with left ventricular non-compaction cardiomyopathy (NCCM) at high risk life-threatening arrhythmic events is focused on clinical and instrumental criteria. The genetic component not taken into account when deciding a strategy for preventive measures. Purpose To analyze in the variant NCCM to identify factors that may increase events. Methods study included 159 pts, among whom 58 had malignant arrhythmias (mean age 43.54±11.95 years, 34/24/58.6%...
The features of the clinical course non-compaction cardiomyopathy, its prognosis and even diagnosis are still subject discussion. variety phenotypes this disease genetic heterogeneity dictates need for detailed molecular examination patients with pathology. article presents a observation patient dilated phenotype left ventricular non-compaction, progression chronic heart failure, as well presence rhythm conduction disorders that required implantation cardiac resynchronization...
Aim. Evaluate clinical and structural-functional characteristics, including adverse events outcomes, in patients with non-compact cardiomyopathy (NCM) various genetic variants. Material Methods. 51 unrelated NCM were examined (mean age 37 [28; 47]; men (54.9%), women (45.1%)), observed for 7 to 211 months (in average 38 months). Clinical instrumental examination included checkup, collection of individual family history, ECG-12 registration, 24-hour Holter ECG monitoring, echocardiography,...
Aim: evaluate clinical and structural-functional characteristics, including adverse events outcomes, in patients with noncompact cardiomyopathy (NCM) various genetic variants. Material Methods. 51 unrelated NCM were examined (mean age 37 [28; 47]; men (54.9%), women (45.1%)), observed for 7 to 211 months (in average 38 months). Clinical instrumental examination included checkup, collection of individual family history, ECG-12 registration, 24-hour Holter ECG monitoring, echocardiography,...
Abstract Funding Acknowledgements Type of funding sources: None. Purpose. To evaluate the genotype-phenotype association in Belarusian patients with non-compaction cardiomyopathy (NCCM) and clinically significant ventricular arrhythmias. Methods. The study included 170 unrelated pts NCCM prospectively observed RSPC "Cardiology", who underwent 24-hour Holter ECG monitoring for 12 months after entering study. median follow-up was 36 [6; 152,0]. age 42 [18; 69] years, men – 63,2%. arrhythmic...
Aim. To determine the spectrum of mutations in genes responsible for long QT syndrome (LQTS) and study their phenotypic manifestations patients with LQTS different age groups. Materials methods. The included 35 unrelated probands a clinical diagnosis LQTS: 23 adults (8 men) 12 children (9 boys). There were following features: syncope — 54%, positive family history SCD 29%, implanted cardioverter defibrillator (ICD) 46%. All participants underwent 12-lead electrocardiography (ECG), 24-hour...