Russian Journal of Cardiology最新文献

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Modern ideas about the consequences of sympathoadrenal hyperactivation in hypertensive patients with metabolic disorders: modulation possibilities 关于患有代谢紊乱的高血压患者交感肾上腺功能亢进后果的现代观点:调节的可能性
Russian Journal of Cardiology Pub Date : 2023-12-19 DOI: 10.15829/1560-4071-2023-5681
Yuliya. V. Zhernakova
{"title":"Modern ideas about the consequences of sympathoadrenal hyperactivation in hypertensive patients with metabolic disorders: modulation possibilities","authors":"Yuliya. V. Zhernakova","doi":"10.15829/1560-4071-2023-5681","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-5681","url":null,"abstract":"The prevalence of hypertension (HTN) in the Russian Federation and the world continues to grow. This is largely due to the epidemic of obesity and related conditions — metabolic syndrome and type 2 diabetes. The most common and proven hypothesis of the relationship between hypertension and obesity is the activation of the sympathetic nervous system. However, modern research shows that the consequences of sympathetic hyperactivation are not limited only to hemodynamic effects, but extend to many organs and systems. Long-term sympathetic hyperactivation can lead to insulin resistance and type 2 diabetes. Neurotransmitters affect fat cells by increasing lipolysis and leading to increased fatty acid release, the liver by increasing gluconeogenesis, and pancreatic β-cells by decreasing insulin secretion. The sympathetic nervous system plays an important role in energy management by regulating metabolic rate. Obese individuals have significantly less pronounced postprandial thermogenesis, despite a higher insulin response, while the hemodynamic response to isometric or heterometric exercise is reduced. Chronic stress serves not only as a trigger for behavioral disorders, but also directly leads to various physiological disorders, including through sympathetic activation. However, the choice of antihypertensive agents affecting the sympathetic activity in patients with obesity and metabolic disorders is very limited. According to current guidelines, β-blockers are not the drugs of choice in patients with uncomplicated HTN, since it has a weaker evidence base compared to other classes of drugs and have metabolic and other side effects. Therefore, selective I1-imidazoline receptor agonists, and in particular, moxonidine may be the drugs of choice in this category of patients. Moxonidine in combination therapy of patients with HTN and metabolic disorders, including metabolic disorders in menopause, as well as with a physiological estrogen decrease, significantly improves the effectiveness of antihypertensive therapy and increases the achievement of target blood pressure. In addition, its metabolic effects improve prognosis of such patients.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":" 1202","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138960114","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}
引用次数: 0
ST-segment elevation myocardial infarction in the presence of metabolic-associated fatty liver disease 伴有代谢相关性脂肪肝的 ST 段抬高型心肌梗死
Russian Journal of Cardiology Pub Date : 2023-12-19 DOI: 10.15829/1560-4071-2023-5552
V. A. Tretyakova, O. V. Ermilov, P. K. Alferov, V. Y. Chernyavskaya, D. I. Pisankina, A. Y. Tretyakov
{"title":"ST-segment elevation myocardial infarction in the presence of metabolic-associated fatty liver disease","authors":"V. A. Tretyakova, O. V. Ermilov, P. K. Alferov, V. Y. Chernyavskaya, D. I. Pisankina, A. Y. Tretyakov","doi":"10.15829/1560-4071-2023-5552","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-5552","url":null,"abstract":"Aim. To assess the characteristics of ST-segment elevation myocardial infarction (STEMI) in patients with metabolic syndrome (MS) in the presence and absence of metabolic-associated fatty liver disease (MAFLD).Material and methods. A total of 144 patients with STEMI and MS, admitted for primary coronary angiography and percutaneous intervention (PCI): 71 patients with MAFLD (group 1, age 62,9 (59,9;66,0) years, 17 women); 73 patients without MAFLD (control group, age 63,2 (59,1;66,8) years, 17 women). The examination program included transient hepatic elastography, determination of cardiac troponin I (cTnI) upon admission (cTnI-1) and after 24 hours (cTnI-24), mean platelet volume (MPV), transaminases, gamma-glutamyl transferase, concentration of cytokeratin-18 (CK-18) fragments.Results. Patients with STEMI in combination with MAFLD are characterized by the predominance of a high thrombotic load (TIMI thrombus grade 5, p=0,048), requiring two-stage PCI (p=0,018), an increase in the platelet count and MPV, a decrease in the resolution of ST elevation after primary PCI, a higher transaminase and liver dysfunction markers’ level. The main condition for these differences is steatohepatitis, which determines significant troponin elevation (p<0,01) and is a predictor of high thrombus load (p=0,016), increased MPV (p=0,044) and a factor of adverse events during 18 months after acute coronary syndrome (p=0,00035). The inclusion of the CK-18 criterion in the multivariate model makes it possible to improve the quality of the initial clinical model for predicting subsequent coronary events in the case of STEMI-MAFLD combination with an increase in the area under the ROC curve from 0,788 (95% confidence interval (CI), 0,69-0,89) to 0,648 (95% CI, 0,52-0,78) (DeLong test, p=0,044).Conclusion. MAFLD in patients with STEMI is combined with an increase in the severity of coronary thrombosis and difficulties in primary PCI, the main condition of which, as well as adverse events after acute coronary syndrome, is steatohepatitis.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":" 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138962639","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}
引用次数: 0
Optimal treatment strategies in comorbid patients with hypertension and dyslipidemia: the role of fixed-dose combinations 高血压和血脂异常合并症患者的最佳治疗策略:固定剂量组合的作用
Russian Journal of Cardiology Pub Date : 2023-12-18 DOI: 10.15829/1560-4071-2023-5712
A. Sokolova, D. Napalkov
{"title":"Optimal treatment strategies in comorbid patients with hypertension and dyslipidemia: the role of fixed-dose combinations","authors":"A. Sokolova, D. Napalkov","doi":"10.15829/1560-4071-2023-5712","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-5712","url":null,"abstract":"The publication reflects the modern strategy and potential of various fixed-dose combinations in comorbid patients with hypertension and lipid metabolism disorders. Based on guidelines and key randomized studies, algorithms for prescribing combination drugs are proposed depending on the clinical characteristics of patients. The priority is both to achieve target blood pressure and low-density lipoprotein levels and to maximize the impact on cardiovascular prognosis and outcomes. Of course, these algorithms are not mandatory, and in a specific clinical situation there may be any deviations even from standard treatment regimens as follows: an alternative decision of a practitioner, intolerance to therapy, special indications, and much more. However, differentiated approach to fixed-dose combinations is extremely useful in cases where it is necessary to quickly make the right decision to prescribe optimal therapy for hypertension and dyslipidemia in lack of time to comprehensively weigh all the pros and cons underlying any clinical guidelines.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":"213 S699","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138995106","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}
引用次数: 0
Leonid S. Barbarash (22.06.1941 – 14.11.2023), Academician of the Russian Academy of Sciences 列昂尼德-巴尔巴拉什(1941 年 6 月 22 日-2023 年 11 月 14 日),俄罗斯科学院院士
Russian Journal of Cardiology Pub Date : 2023-12-03 DOI: 10.15829/1560-4071-2023-5718
Yu. V. Rodionova
{"title":"Leonid S. Barbarash (22.06.1941 – 14.11.2023), Academician of the Russian Academy of Sciences","authors":"Yu. V. Rodionova","doi":"10.15829/1560-4071-2023-5718","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-5718","url":null,"abstract":"Леонид Семенович Барбараш, выдающийся советский и российский кардиохирург, талантливый ученый, заслуженный врач Российской Федерации, академик РАН, профессор, доктор медицинских наук ушел из жизни.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":"35 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139012501","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}
引用次数: 0
70th anniversary of Prof. Albert S. Galyavich 阿尔伯特-S-加利亚维奇(Albert S. Galyavich)教授逝世 70 周年
Russian Journal of Cardiology Pub Date : 2023-11-19 DOI: 10.15829/560-40712023-5703
Yu. V. Rodionova
{"title":"70th anniversary of Prof. Albert S. Galyavich","authors":"Yu. V. Rodionova","doi":"10.15829/560-40712023-5703","DOIUrl":"https://doi.org/10.15829/560-40712023-5703","url":null,"abstract":"1 января 2024 года исполняется 70 лет известному российскому кардиологу, доктору медицинских наук, профессору, заслуженному врачу Российской Федерации, заслуженному врачу Республики Татарстан, академику Академии наук Республики Татарстан, заведующему кафедрой кардиологии Казанского государственного медицинского университета Галявичу Альберту Сарваровичу.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":"16 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139260172","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}
引用次数: 0
Clinical efficacy of a fixed-dose combination of amlodipine/indapamide/perindopril in patients with hypertension and multiple risk factors 氨氯地平/吲达帕胺/培哚普利固定剂量复方制剂对高血压和多种危险因素患者的临床疗效
Russian Journal of Cardiology Pub Date : 2023-11-03 DOI: 10.15829/1560-4071-2023-5682
A. A. Pirozhenko, A. S. Ryabtsev, S. Shlyk, N. Drobotya, V. V. Kaltykova
{"title":"Clinical efficacy of a fixed-dose combination of amlodipine/indapamide/perindopril in patients with hypertension and multiple risk factors","authors":"A. A. Pirozhenko, A. S. Ryabtsev, S. Shlyk, N. Drobotya, V. V. Kaltykova","doi":"10.15829/1560-4071-2023-5682","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-5682","url":null,"abstract":"Aim. To evaluate the antihypertensive and organ protective efficacy of the triple fixed-dose combination of amlodipine/indapamide/perindopril in patients with hypertension (HTN) who did not achieve target blood pressure (BP) on previous antihypertensive therapy (AHT).Material and methods. The study included 47 patients with HTN and multiple risk factors who did not achieve target blood pressure during previous AHT. They were prescribed triple fixed-dose combination of amlodipine/indapamide/perindopril with preliminary prescription of amlodipine, indapamide and perindopril in the free-dose combination. At baseline and after 3 months of AHT, 24-hour ambulatory blood pressure monitoring (ABPM), echocardiography and arterial stiffness were analyzed.Results. Initially, in patients included in the study, the main ABPM parameters were increased, while non dipper and reduced dipper (66% of patients) patterns prevailed. The results of echocardiography indicated left ventricular (LV) hypertrophy (LVH) by left ventricular mass index (LVMI), left ventricular posterior wall thickness (LVPWT), interventricular septum (IVS) and its diastolic dysfunction by E/A, while an increase in CAVI and biological vascular age reflected an increase in arterial stiffness. After 3 months of AHT, significant (p£0,05) ABPM changes and a predominance of the dipper-type 24-hour BP pattern were recorded in more than half of the patients (53%). A decrease in LVMI, LVPWT and IVS by 7%, 12% and 8%, respectively (p£0,05), while an E/A increase by 12% reflected LVH regression and LV diastolic function improvement. A decrease in arterial stiffness was evidenced by a decrease (p£0,05) in CAVI by an average of 10% and biological vascular age by 4 years.Conclusion. Triple fixed-dose therapy of amlodipine/indapamide/perindopril after 3-month treatment made it possible to achieve target blood pressure in 78% of patients, improved ABPM parameters and ensured pronounced cardioand vasoprotective effects, reflected in LVH regression, improvement of LV diastolic function and reduction of arterial stiffness.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139290120","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}
引用次数: 0
12th All-Russian Conference "Contradictions of Modern Cardiology: Controversial and unresolved issues". Collection of abstracts 第十二届全俄会议“现代心脏病学的矛盾:有争议和未解决的问题”。摘要汇编
Russian Journal of Cardiology Pub Date : 2023-10-27 DOI: 10.15829/1560-4071-2023-8s
Article Editorial
{"title":"12th All-Russian Conference \"Contradictions of Modern Cardiology: Controversial and unresolved issues\". Collection of abstracts","authors":"Article Editorial","doi":"10.15829/1560-4071-2023-8s","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-8s","url":null,"abstract":".","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":"42 7","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136262365","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}
引用次数: 0
Assessment of N-terminal pro-brain natriuretic peptide in patients with arrhythmia due to undifferentiated connective tissue disease 评估因未分化结缔组织病导致心律失常的患者体内的 N 端前脑钠尿肽
Russian Journal of Cardiology Pub Date : 2023-10-20 DOI: 10.15829/1560-4071-2023-5641
E. Loginova, G. I. Nechaeva, A. N. Dakuko, I. V. Bogatyrev, V. V. Potapov, A. N. Kirichenko, I. V. Sharun
{"title":"Assessment of N-terminal pro-brain natriuretic peptide in patients with arrhythmia due to undifferentiated connective tissue disease","authors":"E. Loginova, G. I. Nechaeva, A. N. Dakuko, I. V. Bogatyrev, V. V. Potapov, A. N. Kirichenko, I. V. Sharun","doi":"10.15829/1560-4071-2023-5641","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-5641","url":null,"abstract":"Aim. To study the relationship between the level of N-terminal pro-brain natriuretic peptide (NT-proBNP) and myocardial abnormalities in patients with cardiac arrhythmias due to undifferentiated connective tissue disease (UCTD).Material and methods. This cross-sectional comparative study included young and middle-aged patients with arrhythmias due to UCTD: group 1 (18-44 years old, n=127), group 3 (45-59 years old, n=10). The control groups (n=30, group 2; n=8, group 4) included volunteers with single phenotypic signs of UCTD, comparable in age and sex. A standard clinical examination, 72-hour electrocardiographic monitoring, Speckletracking echocardiography, and NT-proBNP level assessment were performed.Results. In patients of groups 1 and 3, a significant increase in the concentration of NT-proBNP was noted compared to the control groups. At the same time, the average NT-proBNP level in the study groups did not exceed the reference values. Significant correlations were revealed between NT-proBNP and heart rate (r1=0,462, p=0,010; r3=0,397, p=0,034), UCTD diagnostic cut-off level (r1=0,496, p=0,001; r3=0,401, p=0,043), the presence of mitral valve prolapse (r1=0,469, p=0,002) and mitral regurgitation (r1=0,53, p=0,008), premature ventricular contractions (PVCs) of class III (r1=0,582, p=0,045), IVa (r1= 0,39, p=0,042) and V (r1=0,397, p=0,037); cardiac index (r1=-0,329, p=0,037) and ejection fraction (r1=-0,407, p=0,044). However, no significant correlation was found between the left ventricular global longitudinal strain and NT-proBNP level.Conclusion. The study demonstrated the association of NT-proBNP level with UCTD diagnostic cut-off level, mitral valve prolapse, mitral regurgitation, and PVCs, which makes possible the use of this biomarker as an additional diagnostic criterion for myocardial changes in against the background of UCTD.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":"34 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139316219","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}
引用次数: 0
Clinical and morphological features of infective endocarditis of native and prosthetic heart valves 原发性和人工心脏瓣膜感染性心内膜炎的临床和形态特征
Russian Journal of Cardiology Pub Date : 2023-10-17 DOI: 10.15829/1560-4071-2023-5651
U. M. Shadrina, M. A. Korzhova, N. O. Litskevich, I. V. Antonova, M. Gordeev, E. A. Demchenko, L. B. Mitrofanova, O. B. Irtyuga
{"title":"Clinical and morphological features of infective endocarditis of native and prosthetic heart valves","authors":"U. M. Shadrina, M. A. Korzhova, N. O. Litskevich, I. V. Antonova, M. Gordeev, E. A. Demchenko, L. B. Mitrofanova, O. B. Irtyuga","doi":"10.15829/1560-4071-2023-5651","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-5651","url":null,"abstract":"Aim. To evaluate clinical and morphological data of infective endocarditis (IE) of native and prosthetic heart valves.Material and methods. This retrospective cohort study included 354 patients that had signs of IE according to pathological study of surgical material from native valves and prosthetic heart valves. The patients were divided into two groups: the first group included patients with native valve IE (n=328), while the second group — with prosthetic valve IE (n=26).Results. Among patients with native valve IE, aortic (AV) and mitral valve (MV) IE was recorded in 67,6% and 20,7%, respectively. In the group of patients with prosthetic IE, AV IE also predominated — 57,7% vs 26,9% in MV IE. In the majority of patients in the first group, secondary IE was detected (68,9%). The development of IE in the presence of bicuspid AV (BAV), degenerative AV disease, and rheumatic valve disease was revealed in 40,7%, 31,4% and 6,7%, respectively. In the group of patients with native valve IE, subactive IE was most often detected — in 38,4%, while in 7,1% — signs of process remission were detected. In the group of patients with prosthetic valve IE, IE with moderate activity was detected more often than in the group of patients with native valve IE (42,3% vs 26,8%, p=0,042). In the group of patients with prosthetic valve IE, the presence of colonies of microorganisms and neutrophilic infiltration in the histological material was somewhat more common, while in patients with native valve IE there was a tendency towards a higher percentage of necrosis in the studied material (42,4% vs 38,5%, p>0,05).Conclusion. This work confirms changes in the epidemiological characteristics of patients with IE. A high frequency of subactive forms of IE was noted according in patients with native valve IE, which requires individual approach to antibacterial therapy depending on the pathomorphological IE activity.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":"51 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139317983","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}
引用次数: 0
Desmoplakin and features of desmoplakin cardiomyopathy 去疱疹素和去疱疹素心肌病的特征
Russian Journal of Cardiology Pub Date : 2023-10-16 DOI: 10.15829/1560-4071-2023-5648
R. Myasnikov, N. Kuzina, D. A. Nefedova, A. Kiseleva, O. Kulikova, A. N. Meshkov, M. Kudryavtseva, E. Mershina, M. Divashuk, E. V. Ryzhkova, M. S. Kharlap, O. Drapkina
{"title":"Desmoplakin and features of desmoplakin cardiomyopathy","authors":"R. Myasnikov, N. Kuzina, D. A. Nefedova, A. Kiseleva, O. Kulikova, A. N. Meshkov, M. Kudryavtseva, E. Mershina, M. Divashuk, E. V. Ryzhkova, M. S. Kharlap, O. Drapkina","doi":"10.15829/1560-4071-2023-5648","DOIUrl":"https://doi.org/10.15829/1560-4071-2023-5648","url":null,"abstract":"Inherited cardiomyopathies (CMP) are a group of heterogeneous diseases characterized by myocardial disorders that is not caused by coronary artery disease, hypertension, valvular and congenital defects. With the development of imaging methods and molecular genetic diagnostics, it has become clear that many CMPs are characterized by phenotypic and genotypic \"crossover\". And although the genetic component does not always determine the specific phenotype of the disease, genetic testing plays a significant role in risk stratification, determining the prognosis and management of patients, as well as conducting family screening. Considering the high diagnostic and prognostic value of genotype, novel genotype-based strategies for classifying CMP have been proposed in recent years. One example of such a genotype-specific approach is the identification of desmoplakin CMP as a separate independent clinical entity. The article presents a case of a family with a pathogenic DSP gene variant (p.Gln948LysfsTer29) identified in three generations, leading to the development of a specific CMP phenotype. A comprehensive examination was carried out. We demonstrated the stages of natural disease course, as well as management strategy for patients with desmoplakin CMP were proposed.","PeriodicalId":21389,"journal":{"name":"Russian Journal of Cardiology","volume":"110 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139318491","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}
引用次数: 0
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