Eurasian heart journal最新文献

{"title":"МикроРНК: взгляд клинициста на состояние проблемы. Часть 2. МикроРНК в качестве биомаркера","authors":"O. I. Mironova, M. V. Berdysheva, E. M. Elfimova","doi":"10.38109/2225-1685-2023-2-64-71","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-2-64-71","url":null,"abstract":"Cardiovascular diseases are the main cause of death and disability in economically developed countries in the world. In response to the impact of various factors, the structure and function of several types of cells changes, contributing to the occurrence and progression of cardiovascular diseases. Search for sensitive and specific biomarkers is one of the most important problems in the field of diagnosis of cardiovascular diseases. In the last decade, microRNAs have more often been considered as potential biomarkers of a wide range of cardiovascular diseases, such as myocardial infarction, ischemic heart disease, heart failure, hypertension, diabetes mellitus and obstructive sleep apnoea. Early diagnosis of these diseases is essential to initiate immediate treatment, which can lead to improved outcomes. MicroRNAs are endogenous small (21-23 nucleotides) ribonucleotides involved in the regulation of protein synthesis from amino acids based on matrix RNA. MicroRNAs are involved in the regulation of expression of the majority (>60%) of genes encoding proteins, mainly due to its suppression, modulate numerous signaling pathways and cellular processes and participate in intercellular communication. There are different advantages of these biomarkers: low invasiveness during research, stability, resistance to destructive factors, for example, freeze-thaw cycles, enzymes in the blood. Some microRNAs are expressed everywhere, while others are specific to certain tissues and/or stages of development of the organism. At the same time, microRNAs were detected in various biological fluids: blood plasma, urine, seminal fluid, saliva, breast milk. Changes in both the amount and functional activity of microRNAs can lead to the development of various diseases. In the cardiovascular system, microRNAs control the functions of various cells, such as cardiomyocytes, endothelial cells, smooth muscle cells and fibroblasts. Thus, due to the stability of microRNAs, the tissue­specific nature of expression and secretion into specific fluids, it becomes possible to consider them as an attractive diagnostic. It is also particularly important that the expression levels of certain microRNAs reflect not only the presence of diseases in the early stages, but also the dynamic development of diseases in the later stages. This review presents the features of various microRNAs as biomarkers and their influence on some molecular pathways underlying cardiovascular diseases and describes the significant potential of supplementing traditionally used markers in clinical practice with microRNA biomarkers. Prospects for the development and limitations of the use of microRNAs as potential biomarkers are also described.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77657135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of structural changes in the left atrium myocardium according to cardiac magnetic resonance with contrast before and after balloon cryoablation in patients with persistent atrial fibrillation","authors":"O. P. Aparina, V. S. Kirilova, O. V. Stukalova, E. Maykov","doi":"10.38109/2225-1685-2023-2-38-46","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-2-38-46","url":null,"abstract":"Aim. To study the structural changes of the left atrium myocardium according to magnetic resonance imaging with contrast in patients with persistent atrial fibrillation before and after balloon cryoablation and compare the results with the effectiveness of the intervention.Material and methods of research. The study included 28 patients with persistent form of atrial fibrillation. All patients before and after magnetic resonance imaging underwent cardiac magnetic resonance imaging with delayed contrast using a high-resolution MR pulse sequence (voxel size 1,25x1,25x1,25 mm) before and after cryoablation.The severity of atrial fibrous lesion was calculated automatically using a specialized LGE HEART Analyzer program using algorithms based on the myocardial contrast index with a threshold value of 1.38. The clinical efficacy of the intervention was evaluated after 12 months and the relationship was determined structural changes in the myocardium of the left atrium according to contrast magnetic resonance imaging data before and after the cryoablation.Results. The severity of fibrotic myocardial lesion of the left atrium before balloon cryoablation was 1,5 [0,16; 9,3]%. In Utah patients, stage 1 fibrosis was detected in 71,4% (n=20), stage 2 in 14,3% (n=4), stage 3 in 3,6% (n=1), stage 4 in 10,7% (n=3). 3 months after cryoablation, there was an increase in the severity of fibrosis of 2,7 [1,02; 18,8]% (p<0,001). Overall efficiency of the intervention rate was 57,1%. The construction of Kaplan- Meyer curves demonstrated that the intervention was most effective in patients with minimal severity of fibrosis before ablation (Utah I) and least effective in more pronounced fibrotic lesion (stage Utah III and IV)Conclusion. Magnetic resonance imaging of the heart with contrast allows to assess fibrotic lesion of the myocardium of left atrial, which may be one of the factors of the effectiveness of interventional treatment of persistent AF.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87933512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical profile of pulmonary arterial hypertension in newly diagnosed patients with connective tissue disease from the point of view of the cardiologist","authors":"E. A. Rezukhina, M. A. Zubova, O. Rodnenkov, T. Martynyuk","doi":"10.38109/2225-1685-2023-2-48-55","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-2-48-55","url":null,"abstract":"Aim: to evaluate demographic and disease characteristics in pulmonary arterial hypertension associated with connective tissue disease (PAH-CTD) patients.Materials and methods: the study enrolls 68 patients with PAH-CTD. These patients were diagnosed in department of pulmonary hypertension and heart disease of the E.I. Chazov National Medical Research Centre of cardiology. Clinical, functional and hemodynamic characteristics of PAH patients were examined. The diagnosis was confirmed according to Eurasian (2019) and Russian (2020) guidelines for the diagnosis and treatment of pulmonary hypertension.Results: Of 68 patients with CTD 35 (51,5%) had systemic sclerosis, 11 (16,2%) - mixed CTD, 22 (32,3%) - other CTD. The median time from PAH onset to first visit to health care worker was 4 months, the median time from first visit to PAH diagnosis was 7,5 months. The median age was 59,5 years, 94,1% patients were women. The median 6-minute walking distance (6MWD) was 345 (259,25-400,00) m, which was corresponding to WHO functional class III, the median Borg dyspnea index was 5 (3,0-6,0). 12 (17,7%) patients did not undergo 6MWD due to severity of their condition. According to right heart catheterization data the median mean pulmonary arterial pressure was 51,0 (35,5-62,0) mmHg, the median cardiac index was 2,1 (1,7-2,5) liter/min/m2, the median pulmonary vascular resistance was 11,48 (5,99-15,71) Wood units. According to several risk stratification calculators, the vast majority of patients were at high risk of 1-year mortality: due to risk status, PAH-specific therapy was initiated to 88,3% patients: 42,7% received double and 8,8% - triple PAH-specific therapy.Conclusions: In Russian clinical practice, PAH-CTD is characterized by late- onset diagnosis. Newly diagnosed patients have significant functional and hemodynamic impairment, high risk of 1-year mortality, which results in combined PAH-specific therapy initiation.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86868764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: anomalous left coronary artery from the pulmonary artery (Bland-White-Garland syndrome) in an adult patient","authors":"N. A. Androsov, N. S. Shamrina, A. Shiryaev, A. V. Shirkin, Y. Matchin","doi":"10.38109/2225-1685-2023-2-72-75","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-2-72-75","url":null,"abstract":"A rare clinical case of malformation of the coronary arteries is considered – anomalous left coronary artery from the pulmonary artery (Bland-WhiteGarland syndrome) in a 61-year-old patient. Detailed visualization in the form of angiograms and multispiral-CT, including those after surgery, is presented.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87438147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Organizational and clinical aspects of acute coronary syndrome combined with a new coronavirus infection (SARS-COV-2)","authors":"I. I. Serebrennikov, P. Kopylov, R. Komarov, M. Mukanova, A. Ismailbaev, F. S. Gafurov","doi":"10.38109/2225-1685-2023-2-6-11","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-2-6-11","url":null,"abstract":"Objective. Assessment of organizational and clinical aspects of acute coronary syndrome combined with a new coronavirus infection (SARS- CoV-2).Materials and methods. This is a retrospective study where 60 patients were divided into the following groups: group 1 patients with acute coronary syndrome (ACS) and a new coronavirus infection hospitalized in the «red» zone after infection was detected at the prehospital stage (n=29); group 2 - uninfected coronavirus infection patients with ACS (n=31). The primary points were mortality in the hospital and the average time (up to 2 months) after ACS, the incidence of acute heart failure, the incidence of ACS with ST segment elevation, the frequency of acute coronary artery occlusions.Results. The analysis of hospital mortality revealed its higher level in the ACS group and COVID-19 (group 1) (p=0.009). Mortality within 2 months was also higher in group 1 (p=0.017). The groups did not differ in the number of patients with ACS and ST segment elevation and acute coronary artery occlusions. Analysis of the incidence of OSN at admission revealed a statistically significant difference (p=0.05) in group 2 (n=12, 38.7%) compared with group 1 (n=5, 17.2%).Conclusions. Patients with ACS and COVID-19 are characterized by a higher initial severity, a tendency to develop ACS with ST segment elevation, high rates of hospital and 60-day mortality. Separating the flows of infected and uninfected patients makes it possible to improve the epidemiological situation in non-infectious hospitals, however, it leads to a delay in hospitalization of patients with ACS and COVID-19, which potentially increases the risk of fatal complications in this cohort.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87476605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient and disease characteristics of pulmonary arterial hypertension patients for prostacyclin receptor agonist selexipag treatment initiation","authors":"E. A. Rezukhina, O. Rodnenkov, T. Martynyuk","doi":"10.38109/2225-1685-2023-1-94-99","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-1-94-99","url":null,"abstract":"Aim: to evaluate demographic and disease characteristics in pulmonary arterial hypertension (PAH) patients, for which selexipag is prescribed as PAH-specific treatment.Materials and methods: the study enrolls 73 patients with PAH, where there were 49 patients with idiopathic PAH and 24 patients with associated conditions. These patients were diagnosed in department of pulmonary hypertension and heart disease of the National Medical Research Centre of cardiology named after academician E.I. Chazov of Ministry of Health. Clinical, functional and hemodynamic characteristics of PAH patients were examined. The diagnosis was confirmed according to Eurasian (2019) and Russian (2020) guidelines for the diagnosis and treatment of pulmonary hypertension.Results: At selexipag initiation, median of patient`s age was 43 years, 86,3% were female. Etiological analysis revealed idiopathic PAH in 49 (67,1%) patients, 24 (32,9%) had associated conditions: 14 (19,2%) had connective tissue disease‒associated PAH, 6 (8,2%) had PAH after correction of the initial heart defect, 4 (5,5%) had HIV-associated PAH. The median 6-minute walking distance (6MWD) was 370 (300,0-443,75) m, which was corresponding to WHO functional class III, the median Borg dyspnea index was 5 (3,0-6,0). 7 (9,6%) patients did not undergo 6MWD due to severity of their condition. According to right heart catheterization data the median mean pulmonary arterial pressure was 58,5 (48,25-65,0) mmHg, the median right atrium pressure was 7,5 (5,0-10,0) mmHg, the median venous oxygen saturation 58,5% (56,0-66,0), the median cardiac index was 2,0 (1,6-2,5) liter/min/ m2, the median pulmonary vascular resistance was 15,0 (10,3-19,1) Wood units. At selexipag initiation, according to Eurasian (2019) and Russian (2020) guidelines 1 (1,3%) was at low risk, 21 (28,8%) were at intermediate risk and 51 (69,9%) were at high risk of 1-year mortality. Due to risk status, selexipag was initiated in double (50,7%) and triple (49,3%) PAH-specific therapy.Conclusions: At selexipag initiation, PAH-patients typically have WHO FC III and are at high risk, despite receiving PAH-specific treatment. Selexipag was prescribed as part of a combination regimen in most patients.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82265415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of the combined use of atorvastatin and curcetin on inflammatory biomarkers in patients with unstable angina after COVID-19 (“Long COVID”)","authors":"R. Alieva, K. Fozilov, A. Shek, S. Khoshimov, M. M. Musabaev, L. Kan, A. Kim, Sh. A. Khodimetova","doi":"10.38109/2225-1685-2023-1-86-92","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-1-86-92","url":null,"abstract":"Objective: To compare the effects of atorvastatin monotherapy and the combination of atorvastatin with curcetin (a mixture of the bioflavonoids curcumin and quercetin) on lipid profile and inflammatory biomarkers in patients with unstable angina after COVID-19 (“Long COVID”).Material. An open simple comparative randomized study was conducted in 186 patients with unstable angina, including 77 (Group I) in whom angina destabilization occurred as a result of COVID-19 during 4-8 weeks prior to inclusion in the study, and 109 patients (Group II) in whom destabilization was not associated with infection.Results: In group I, the level of hsC-reactive protein [5,4 (2,06-7,4) g/l and IL-6 8,6 (5,4-10,3) pg/ml] was higher (P < 0,05) than in group II patients [3,8 (1,2-4,0) g/l and 6,9 (2,2-10,2) pg/ml], respectively. In subgroup I of patients after COVID-19, atorvastatin monotherapy (n = 43) did not have a significant effect after two months of treatment, while in subgroup II the combined use of atorvastatin with curcetin (n = 34) for 2 months reduced the level of hsCRP by 49,0% (P < 0,05) and Il-6 by 40,0% (P < 0,05).Conclusion. In patients with unstable angina after COVID-19, combination treatment with atorvastatin and curcetin reduced concentrations of inflammatory biomarkers compared with atorvastatin monotherapy.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73538176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Body mass index – from the position of assessment of the condition of patients with ischemic heart disease","authors":"G. Nagaeva, M. Zhuraliev, N. P. Yuldoshev, V. Li, K. A. Olimov","doi":"10.38109/2225-1685-2023-1-66-76","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-1-66-76","url":null,"abstract":"Purpose: comparative analysis of clinical, laboratory and angiographic parameters in patients with coronary artery disease, depending on the level of body mass index (BMI).Material and Methods: 71 patients with coronary artery disease were examined. All underwent general clinical laboratory functional studies and coronary angiography with stenting of the coronary arteries. Depending on the level of BMI, 2 groups of patients were identified: 1 gr. – 36 patients with BMI < 30 kg/m2 and 2 gr. – 35 patients with BMI ³ 30 kg/m2.Results: an increase in BMI was associated with young age and female sex, but fewer acute forms of coronary artery disease. The level of BMI ³ 30 kg/m2 was characterized by greater comorbidity, with AH being more frequent among comorbidities; diabetes; diseases of the gastroduodenal zone GDZ (p < 0,05); COPD and past history of Covid-19. In addition, among patients with a BMI ³ 30 kg/m2, the incidence of complex ventricular cardiac arrhythmias was 4 times higher than in patients with a BMI < 30 kg/m2. In patients with BMI ³ 30 kg/m2, the average amount of medications taken per day was 0,8 less than in the comparison group. The most frequently taken groups of drugs (in addition to BAB and ASA drugs) among patients in group 2 were: calcium antagonists AK; sartans and hypoglycemic drugs, and among patients of group 1 – ACE inhibitors; statins; thienopyridines and antiarrhythmics. 8,5% of the surveyed were NOT adherent to drug treatment, while among patients in group 1 – 13,9% and in group 2 – 2,8% of respondents. An increase in BMI according to ECG data was characterized by an increase in heart rate and a greater predisposition to ventricular arrhythmia, and according to echocardiography, by a thickening of the LV walls and a decrease in its systolic function. Angiographically, higher BMI values were not a criterion for the complexity of vascular lesions. Nevertheless, the length of the atherosclerotic lesion in the respondents in group 2 was greater than in group 1 (p > 0,05). In patients with BMI ³ 30 kg/m2, lesions of the distal segments of the main coronary arteries were recorded comparatively more often, with type B stenosis prevailing in the PNA basin (60,0%); in the RCA basin – type A (31,6%) and type B (47,4%) stenoses.Conclusion: there are still many controversial points in the assessment of the relationship between excess weight and cardiovascular pathology. Nevertheless, the significance of the BMI indicator has its prerogatives in this direction, especially in primary health care at the first contact with a patient.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88979623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elfimova. MicroRNA: a clinician’s view of the state of the problem. Part 1. History of the issue","authors":"O. Mironova, M. V. Berdysheva, E. M. Elfimova","doi":"10.38109/2225-1685-2023-1-100-107","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-1-100-107","url":null,"abstract":"A large amount of genetic information is localized in microRNAs which are a class of non-coding RNAs formed from longer RNA precursors, usually having a length of 19-24 nucleotides and a specific hairpin structure. Although microRNA studies have been started relatively recently, there is no doubt that they play an important role in regulating gene expression at the post-transcriptional level in embryonic development, and are also involved in maintaining the normal functions of adult cells. For the first time, microRNA was discovered in the study of free-living nematodes Caenorhabditis elegans and then a new mechanism for suppressing expression using antisense RNA was discovered. MicroRNA may be part of protein-coding transcripts or may be located in the intergenic genome regions. Changes in the functional activity and number of microRNAs can lead to diseases such as oncological, cardiovascular, gynecological, and neurological. MicroRNA is also involved in the process of neurodegeneration and the development of mental diseases. Since part of the microRNA is specific to certain tissues and/or stages of development of the organism, microRNA molecules can be considered as a promising diagnostic tool. Among the advantages of these biomarkers are the possibility of detecting pathology in the latent stage, the low invasiveness of studies and resistance to destructive factors. At the same time, microRNAs can be detected in various biological fluids: blood serum, urine, seminal fluid, saliva, breast milk. Currently, the possibilities of using microRNAs in targeted therapy are widely discussed in connection with the possibility of regulating the expression of genes with undesirable properties or overexpression of microRNA inhibitors to prevent the negative effects of microRNAs that cause the development of the disease. The first part of the review discusses the historical aspect of the study of microRNAs, their mechanism of formation, the features of circulating microRNAs and the possible therapeutic effect of exogenous microRNAs coming from food on the human body. ","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78540389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of the left ventricular involvement in patients with a biventricular phenotype of arrhythmogenic ardiomyopathy: a case series description","authors":"S. Komissarova, A. Efimova, N. Chakova, T. Dolmatovich, E. Rebeko, L. Plashchinskaya, V. Barsukevich, A. Gusina","doi":"10.38109/2225-1685-2023-1-78-85","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-1-78-85","url":null,"abstract":"Aim. To assess the prevalence of the left ventricle involvement and the features of the biventricular phenotype of arrhythmogenic cardiomyopathy in patients with pathogenic mutations in the PKP2 and DSP genes.Material and methods. Three unrelated probands underwent a comprehensive molecular-genetic, clinical and instrumental examination, which included a 12-lead ECG, 24-hour ECG monitoring, transthoracic echocardiography, and cardiac magnetic resonance imaging with late gadolinium enhancement.Results. The results of our clinical observations showed that in three studied patients with arrhythmogenic cardiomyopathy left ventricle involvement of various degree was found. The left ventricle damage was characterized by fibrous or fibro-fatty infiltration of the myocardium, as well as regional or global systolic dysfunction of different severity. The patients had pathogenic mutations c.1912C > T (p.Gln638*, rs397517012, rs397517012); c.1237C > T (p.Arg413*, rs372827156) in the PKP2 gene and a new probably pathogenic variant in the form of a c.3494delA deletion in the DSP gene. It was found that the mutation in the DSP gene was associated with a more pronounced systolic dysfunction and a greater percentage of fibrous replacement of the left ventricular myocardium compared with carriers of mutations in the PKP2 gene. All patients had life-threatening ventricular arrhythmias with the need for implantation of a cardioverter-defibrillator.Conclusion. Our clinical observations have shown that in patients with biventricular arrhythmogenic cardiomyopathy, the detection of a mutation in the DSP gene is associated with a more pronounced systolic dysfunction and a higher percentage of fibrous replacement of the left ventricle myocardium compared with carriers of mutations in the PKP2 gene.","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82226960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}