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Interleukin-1β gene rs1143634 polymorphism and cardiovascular complications in patients with coronary artery atherosclerosis 白细胞介素-1β基因 rs1143634 多态性与冠状动脉粥样硬化患者的心血管并发症
Pub Date : 2023-11-22 DOI: 10.38109/2225-1685-2023-4-64-68
E. V. Khazova, O. V. Bulashova, E. Valeeva
The course of heart failure, regardless of its etiology, is associated with local and systemic activation of inflammatory signaling cascades. Identification of the association of candidate cytokine genes with the risk of developing coronary heart disease and chronic heart failure remains a subject of interest for many researchers. The review presents an analysis of studies of the rs1143634 polymorphism of the IL-β gene in relation to the risk of atherosclerotic cardiovascular complications. The presence of the minor allele T is associated with an increase in the concentration of IL-1β in the blood serum. Data on the role of the rs1143634 polymorphism of the IL-β gene in atherosclerotic coronary heart disease, including in combination with chronic heart failure syndrome, are presented, taking into account ethnic characteristics and gender of patients. The carriage of the T allele was associated with the risk of developing atherosclerosis and myocardial infarction. At the same time, it is reported that the C allele and the CC genotype of the rs1143634 polymorphism of the IL-1β gene were a genetic risk factor for the development and progression of heart failure. In a number of studies and meta-analyses, the association of this polymorphism with diseases of the cardiovascular system was not confirmed, but certain trajectories of the risk of complications were identified due to differences in the rs1143634 polymorphism of the IL-β gene in heart failure.
无论病因如何,心力衰竭的病程都与局部和全身的炎症信号级联激活有关。确定候选细胞因子基因与冠心病和慢性心力衰竭发病风险的关系仍然是许多研究人员感兴趣的课题。本综述分析了有关 IL-β 基因 rs1143634 多态性与动脉粥样硬化性心血管并发症风险的研究。小等位基因 T 的存在与血清中 IL-1β 浓度的增加有关。考虑到患者的种族特征和性别,本文提供了有关 IL-β 基因 rs1143634 多态性在动脉粥样硬化性冠心病(包括合并慢性心力衰竭综合征)中的作用的数据。携带 T 等位基因与动脉粥样硬化和心肌梗死的发病风险有关。同时,据报道,IL-1β 基因 rs1143634 多态性的 C 等位基因和 CC 基因型是心衰发生和发展的遗传风险因素。在一些研究和荟萃分析中,该多态性与心血管系统疾病的关联并未得到证实,但由于心衰患者 IL-β 基因 rs1143634 多态性的差异,确定了某些并发症风险的轨迹。
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引用次数: 0
Dynamics of social and labor status in patients undergoing pulmonary thromboendarterectomy 肺血栓内膜切除术患者的社会和劳动状况动态变化
Pub Date : 2023-11-22 DOI: 10.38109/2225-1685-2023-4-16-22
A. Klinkova, O. Kamenskaya, I. Loginova, S. S. Porotnikova, A. Edemskiy, V. Lomivorotov, A. Chernyavskiy
Aim. To study the dynamics of social and labor status in patients with chronic thromboembolic pulmonary hypertension (CTEPH) 6 months after pulmonary endarterectomy (PEA) and to identify clinical factors affecting the resumption of labor activity in the late postoperative period.Material and methods. The study included 79 patients with CTEPH scheduled for PEA. The average age was 48.6 (39.3-59.4) years. We analyzed clinical and functional data, as well as social and labor status before and 6 months after PEA. Using multivariate regression analysis, the factors influencing the resumption of labor activity after PEA, were studied.Results. In the general cohort of patients with CTEPH, 6 months after surgery, a slight increase in the proportion of working patients of all ages was revealed - from 55.7% to 65.8% (p=0.19). In the subgroup of patients of working age (61 people), the proportion of working patients in dynamics increased significantly – from 67.2 to 85.2% (p=0.03). Multivariate regression analysis showed a protective effect of the 2nd stage of rehabilitation on social and labor status after PEA – OR 4.2 (2.9-8.3 95%CI) (p=0.01). The presence of atrial fibrillation and residual pulmonary hypertension negatively affected the resumption of labor activity in the long-term period after PEA – OR 0.6 (0.3-0.9 95%CI) (p = 0.03) and OR 0.7 (0.2-0.8 95%CI) (p=0.01) respectively.Conclusion. The dynamics of the social and labor status of patients with CTEPH 6 months after PEA is characterized by a significant increase in the proportion of working patients of working age from 67.2 to 85.2% compared with the preoperative level. The leading protective factor for the renewal of labor potential in patients with CTEPH within 6 months after PEE is the underwenting of the 2nd stage of rehabilitation. Residual pulmonary hypertension and atrial fibrillation are limiting factors for resuming of labor activity.
研究目的研究慢性血栓栓塞性肺动脉高压(CTEPH)患者在肺动脉内膜剥脱术(PEA)6个月后的社会和劳动状态动态,并确定影响术后晚期恢复劳动活动的临床因素。研究纳入了79名计划接受肺动脉内膜剥脱术(PEA)的CTEPH患者。平均年龄为48.6(39.3-59.4)岁。我们分析了 PEA 术前和术后 6 个月的临床和功能数据,以及社会和劳动状况。通过多变量回归分析,研究了影响 PEA 术后恢复劳动活动的因素。在CTEPH患者的总体队列中,术后6个月各年龄段患者的工作比例略有增加,从55.7%增至65.8%(P=0.19)。在工作年龄患者亚组(61 人)中,工作患者的动态比例显著增加,从 67.2% 增加到 85.2%(P=0.03)。多变量回归分析显示,PEA术后第二阶段康复对社会和劳动状况有保护作用--OR 4.2(2.9-8.3 95%CI)(P=0.01)。心房颤动和残余肺动脉高压对 PEA 术后长期劳动活动的恢复有负面影响--OR 分别为 0.6 (0.3-0.9 95%CI) (p=0.03) 和 OR 0.7 (0.2-0.8 95%CI) (p=0.01)。PEA术后6个月,CTEPH患者的社会和劳动状况的动态特征是,与术前水平相比,工作年龄患者的比例从67.2%显著增加到85.2%。PEE 术后 6 个月内 CTEPH 患者恢复劳动潜能的主要保护因素是接受第二阶段康复治疗。残留肺动脉高压和心房颤动是恢复分娩活动的限制因素。
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引用次数: 0
Case report of repeat thrombolytic therapy in patient with acute circular-apical myocardial infarction, complicated anginous status 急性环形心肌梗死复杂血管状态患者重复溶栓治疗的病例报告
Pub Date : 2023-11-22 DOI: 10.38109/2225-1685-2023-4-84-88
D. V. Bosikov, N. V. Stepanova, V. E. Tarasova, Yu.  M. Botnar
Presented clinical case report illustrates nonstandart approach use repeat thrombolytic therapy patient 49 y.o. with acute circular – apical myocardial infarction, after noneffective primary systemic thrombolytic therapy rtPA. Moreover, repeat thrombolytic therapy in hospital stage was vital alternative in case with significant tamely delay mechanical reperfusion. After 90 minutes then introduction rtPA has been done, we got negative dynamic on ECG in the form of additional ST-segment elevation at other (early intact) lead, and reccurent anginous pain refractory to standard doses narcotic analgesic. In connection with remote PCI – center, we supposed significant tamely deIlay to mechanical reperfusion. In view of this factors, high risk to undesired event, refractory anginous pain, we made decision of repeat thrombolytic therapy with non-immunogenic staphilokinase, and it has been effective. At a later time the disease is taking it’s normal course.
本临床病例报告显示,49 岁的急性环心尖心肌梗死患者在接受了一次全身溶栓治疗 rtPA 无效后,采用了非标准方法重复溶栓治疗。此外,对于机械性再灌注明显延迟的病例,在医院阶段重复溶栓治疗是至关重要的选择。在引入rtPA 90分钟后,我们的心电图出现了阴性动态变化,即其他(早期完整)导联出现额外的ST段抬高,并再次出现标准剂量麻醉镇痛药无法缓解的血管性疼痛。在偏远的PCI中心,我们认为机械性再灌注会造成严重的心肌梗死。考虑到这些因素,即发生意外情况的高风险和难治性血管疼痛,我们决定再次使用非免疫原性葡萄球菌酶进行溶栓治疗,疗效显著。后来,病情逐渐恢复正常。
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引用次数: 0
Antihypertensive therapy and medication adherence in patients with uncontrolled arterial hypertension 未受控制的动脉高血压患者的抗高血压治疗和服药依从性
Pub Date : 2023-11-22 DOI: 10.38109/2225-1685-2023-4-24-30
T. D. Solntseva, O. Sivakova, A. Aksenova, I. Chazova
Aim. To evaluate the antihypertensive therapy and adherence to treatment in patients with uncontrolled arterial hypertension.Materials and Мethods. The study included 297 patients hospitalized at the E.I. Chazov National Medical Research Center of Cardiology over the period from September 2019 to March 2022. Patients were spread into two groups depending on the increase in the frequency of BP: group 1 (n=149) – increase in BP above 140/90 mm Hg 1 or more per week while taking antihypertensive therapy with clinical manifestations, and group 2 (n=148) – increase in blood pressure more than 140/90 mm Hg less than 1 per week while taking antihypertensive therapy clinical manifestations. Antihypertensive therapy and medication adherence were assessed at hospital discharge and after 12 months.Results. Initially, the number of antihypertensive drugs was greater in patients with group 1 versus the patients with group 2 (p<0,001). The frequency of taking antihypertensive therapy initially and after 12 months was greater in group 1 (p<0,001). After 12 months, the number of antihypertensive drugs decreased in the group 1, and remained the same in group 2. When comparing the different classes of antihypertensive drugs, all classes, except angiotensin-converting enzyme inhibitors were most frequently prescribed in group 1 (p<0,05). After 12 months, a lower level of adherence was observed in group 1 patients compared to group 2 (6 [5-8] points vs. 8 [6-9] points) (p<0,001), as evidenced in the reduced intake of different classes of antihypertensive therapy.Conclusion. Uncontrolled arterial hypertension is a release of hypertension associated with more antihypertensive medications to be prescribed and adherence to be monitored more closely.
目的评估未得到控制的动脉高血压患者的降压治疗和治疗依从性。研究对象包括2019年9月至2022年3月期间在国家心脏病学医学研究中心(E.I. Chazov National Medical Research Center of Cardiology)住院的297名患者。根据血压升高的频率将患者分为两组:第1组(n=149)--每周1次或1次以上血压升高超过140/90毫米汞柱,同时服用抗高血压治疗药物有临床表现;第2组(n=148)--每周1次以下血压升高超过140/90毫米汞柱,同时服用抗高血压治疗药物有临床表现。出院时和12个月后对抗高血压治疗和用药依从性进行评估。最初,第一组患者服用的降压药物数量多于第二组患者(P<0.001)。最初和 12 个月后,1 组患者服用降压药的频率更高(P<0.001)。12 个月后,第 1 组患者服用降压药的次数减少,而第 2 组保持不变。 比较不同类别的降压药,除血管紧张素转换酶抑制剂外,第 1 组患者服用所有类别降压药的次数最多(P<0.05)。12 个月后,观察到第 1 组患者的依从性低于第 2 组(6 [5-8] 分对 8 [6-9] 分)(p<0,001),这从不同类别降压药的摄入量减少中可见一斑。结论:未得到控制的动脉高血压是高血压的一种释放,需要处方更多的降压药物,并对患者的依从性进行更密切的监测。
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引用次数: 0
Assessment of the effectiveness of PAH-specific therapy, including selexipag, in patients with idiopathic pulmonary hypertension according to a comprehensive examination using Raman spectroscopy 利用拉曼光谱进行综合检查,评估特发性肺动脉高压患者接受包括 selexipag 在内的 PAH 专项疗法的效果
Pub Date : 2023-11-22 DOI: 10.38109/2225-1685-2023-4-56-63
E. S. Allakhverdiev, E. A. Rezukhina, O. Slatinskaya, O. Rodnenkov, Z. V. Bochkova, N. A. Brazhe, G. V. Maksimov, T. Martynyuk
Aim: to assess the effectiveness of PAH-specific therapy, including selexipag, based on data from a comprehensive examination and assessment of oxygen transport function in patients with IPAH using Raman spectroscopy.Materials and methods. The study was performed on fourteen (n=14) patients diagnosed with IPAH who were on combination PAH-specific therapy, including selexipag. The diagnosis was established in accordance with the algorithm proposed in the Russian guidelines for the diagnosis and treatment of PAH (2020). A comparative analysis of clinical and hemodynamic parameters, including an assessment of hemoglobin conformation using Raman spectroscopy, was performed in all participants.Results. The use of Selexipag as part of a combined PAH-specific therapy caused significant changes in the conformation of Hb including a decrease in the probability of a “dome-shaped” heme conformation due to changes in the group vibrations of heme pyrrole groups (I1375/I1172) and stretching vibrations of vinyl groups (I1580/I1550), as well as an increase globin density.Conclusion. The use of the prostacyclin receptor agonist selexipag as part of a combination PAH-specific therapy for patients with IPH was associated with improvement in clinical, functional and molecular parameters (taking into account the assessment of oxygen transport function and hemoglobin conformation by Raman spectroscopy).
目的:根据全面检查数据和使用拉曼光谱评估 IPAH 患者氧转运功能的结果,评估包括 selexipag 在内的 PAH 专项疗法的有效性。研究对象为 14 名确诊为 IPAH 的患者(n=14),这些患者正在接受包括 selexipag 在内的 PAH 专项联合疗法。诊断是根据俄罗斯 PAH 诊断和治疗指南(2020 年)中提出的算法确定的。对所有参与者的临床和血液动力学参数进行了比较分析,包括使用拉曼光谱评估血红蛋白构象。作为 PAH 特异性联合疗法的一部分,使用 Selexipag 会导致血红蛋白构象发生显著变化,包括由于血红素吡咯基团振动(I1375/I1172)和乙烯基伸展振动(I1580/I1550)的变化而导致 "圆顶形 "血红素构象的概率降低,以及球蛋白密度增加。IPH患者使用前列环素受体激动剂西来替帕作为PAH特异性联合疗法的一部分,可改善临床、功能和分子参数(考虑到通过拉曼光谱评估氧转运功能和血红蛋白构象)。
{"title":"Assessment of the effectiveness of PAH-specific therapy, including selexipag, in patients with idiopathic pulmonary hypertension according to a comprehensive examination using Raman spectroscopy","authors":"E. S. Allakhverdiev, E. A. Rezukhina, O. Slatinskaya, O. Rodnenkov, Z. V. Bochkova, N. A. Brazhe, G. V. Maksimov, T. Martynyuk","doi":"10.38109/2225-1685-2023-4-56-63","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-4-56-63","url":null,"abstract":"Aim: to assess the effectiveness of PAH-specific therapy, including selexipag, based on data from a comprehensive examination and assessment of oxygen transport function in patients with IPAH using Raman spectroscopy.Materials and methods. The study was performed on fourteen (n=14) patients diagnosed with IPAH who were on combination PAH-specific therapy, including selexipag. The diagnosis was established in accordance with the algorithm proposed in the Russian guidelines for the diagnosis and treatment of PAH (2020). A comparative analysis of clinical and hemodynamic parameters, including an assessment of hemoglobin conformation using Raman spectroscopy, was performed in all participants.Results. The use of Selexipag as part of a combined PAH-specific therapy caused significant changes in the conformation of Hb including a decrease in the probability of a “dome-shaped” heme conformation due to changes in the group vibrations of heme pyrrole groups (I1375/I1172) and stretching vibrations of vinyl groups (I1580/I1550), as well as an increase globin density.Conclusion. The use of the prostacyclin receptor agonist selexipag as part of a combination PAH-specific therapy for patients with IPH was associated with improvement in clinical, functional and molecular parameters (taking into account the assessment of oxygen transport function and hemoglobin conformation by Raman spectroscopy).","PeriodicalId":11859,"journal":{"name":"Eurasian heart journal","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139249081","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
ABSTRACTS OF THE V EURASIAN CONGRESS OF CARDIOLOGISTS, SEPTEMBER 11-12, 2017, BISHKEK, KYRGYZSTAN 第五届欧亚心脏病专家大会,2017年9月11-12日,吉尔吉斯斯坦比什凯克
Pub Date : 2023-08-30 DOI: 10.38109/2225-1685-2017-3-4-134
A. Editorial
.
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引用次数: 0
Prevention of thrombotic complications in patients in the postoperative period of total hip and knee arthroplasty: efficacy and safety 全髋关节置换术后患者血栓性并发症的预防:疗效和安全性
Pub Date : 2023-05-26 DOI: 10.38109/2225-1685-2023-2-56-63
A. Ushanova, E. Okisheva, O. Mironova
Thromboembolic complications (TEC) remain a significant problem in modern surgery, worsening the prognosis and reducing the effectiveness of the operation performed. The increase in the number of venous thromboembolisms (VTE) is determined by the severity of the initial injuries, the volume and traumatic nature of the surgical intervention, as well as the increase in the number of elderly patients with multiple comorbidities. Patients in orthopedic departments who have undergone major surgeries such as total hip arthroplasty (THA) or total knee arthroplasty (TKA) are at increased risk of VTE, leading to significant postoperative morbidity and mortality. Thromboses in extensive orthopedic surgery are caused by several prothrombotic mechanisms, such as venous injury, activation of procoagulation factors due to massive bone and tissue damage, and prolonged postoperative immobilization. The most common potential thrombotic complications after arthroplasty are deep vein thrombosis (DVT) of the lower extremities and pulmonary embolism (PE).In the absence of prophylaxis in the postoperative period of major orthopedic surgeries, TECs develop in most patients.To date, the issue of primary prevention of VTE in orthopedic patients remains relevant, and there is still no consensus on the best way to prevent thrombosis after THA and TKA.Risk assessment is the first step in preventing death and disability from VTE. Currently, mechanical and pharmacological methods are used for primary prevention in orthopedics, often in combination. Certainly, the use of antithrombotic drugs in the postoperative period is an effective way to prevent thrombosis. When prescribing antithrombotic drugs, it is also important to minimize the risk of bleeding, including in the area of postoperative wounds. Various antithrombotic drugs are used as pharmacological prophylaxis for TEC. The literature on the dosage, duration, efficacy, and safety of their use varies considerably. Our review assessed published literature on the efficacy and safety of antiplatelet agents for VTE prophylaxis.
血栓栓塞性并发症(TEC)在现代外科手术中仍然是一个重要的问题,它恶化了预后并降低了手术的有效性。静脉血栓栓塞(VTE)数量的增加是由初始损伤的严重程度、手术干预的体积和创伤性以及合并多种合并症的老年患者数量的增加决定的。骨科接受过全髋关节置换术(THA)或全膝关节置换术(TKA)等重大手术的患者发生静脉血栓栓塞(VTE)的风险增加,导致显著的术后发病率和死亡率。广泛骨科手术中的血栓形成是由多种血栓形成机制引起的,如静脉损伤、大量骨和组织损伤引起的促凝因子激活以及术后长时间的固定。关节置换术后最常见的潜在血栓并发症是下肢深静脉血栓形成(DVT)和肺栓塞(PE)。在大型骨科手术术后缺乏预防措施的情况下,大多数患者会发生tec。迄今为止,骨科患者静脉血栓形成的一级预防问题仍然存在,对于THA和TKA后预防血栓形成的最佳方法仍未达成共识。风险评估是预防静脉血栓栓塞造成的死亡和残疾的第一步。目前,机械和药理学方法被用于骨科的一级预防,通常是联合使用。当然,术后使用抗血栓药物是预防血栓形成的有效途径。在处方抗血栓药物时,将出血风险降到最低也很重要,包括术后伤口。各种抗血栓药物被用作TEC的药理学预防。关于其使用的剂量、持续时间、疗效和安全性的文献差异很大。我们的综述评估了已发表的关于抗血小板药物预防静脉血栓栓塞的有效性和安全性的文献。
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引用次数: 0
Genetic spectrum of familial and sporadic dilated cardiomyopathy: arrhythmic phenotypes associated with mutations in the lamin A/C (LMNA) gene 家族性和散发性扩张型心肌病的遗传谱:与纤层蛋白A/C (LMNA)基因突变相关的心律失常表型
Pub Date : 2023-05-26 DOI: 10.38109/2225-1685-2023-2-26-37
T. Vaikhanskaya, L. Sivitskaya, T. Kurushka, A. Liaudanski, N. Danilenko
Purpose. To study the diagnostic value of cascade family screening and the spectrum of genetic variants in patients with familial and sporadic DCM, assess clinical outcomes and comparative analysis of 5-year event-free survival.Materials and methods. The study included 156 unrelated patients with verified DCM. All patients (aged 46 [34; 57] years; 125 (80%) male; LVEF 31 [24; 38]%; LV EDD 68 [61; 74] mm; follow-up period - 77 [59; 108] months) a complex of clinical and instrumental studies (ECG, ECHO, HM, MRI), cascade family screening with genetic testing (NGS+Sanger) and segregation analysis were performed.Results. Criteria for familial DCM were identified in 73 (46.8%) probands. The genetic cause of DCM was identified in 47 (64,4%) familial cases, while for sporadic form DCM pathogenic variants were detected in 19 (22,9%) patients. The dominant mutations were truncating variants in the titin gene (10,9%) and variants in the lamin A/C (LMNA) gene - 8,33%. As a result of the evaluation of cumulative event-free survival (Kaplan-Meier curves), LMNA carriers showed the poor 5-year prognosis for ventricular tachyarrhythmic events (x2=39.9; p=0,0001) and composite adverse outcomes (x2=12.1; p=0.001). Probands who had a familial DCM (log rang x2=38.5; p=0,0001) showed the worst prognosis and low cumulative survival when compared with patients of the sporadic DCM.Conclusion. Cascade clinical family screening and genetic testing in the DCM cohort increased the level of diagnosis of familial DCM from 4.5% to 46.8%. Associations of LMNA mutations with life-threatening tachyarrhythmias are defined as prognostically significant, that confirms the important role of genetic stratification of arrhythmic risk.
目的。研究级联家族筛查和遗传变异谱在家族性和散发性DCM患者中的诊断价值,评估临床结局和5年无事件生存率的比较分析。材料和方法。该研究包括156例经证实的无血缘关系的DCM患者。所有患者(46岁[34;57)年;男性125例(80%);[24];38] %;吕氏68 [61];74毫米;随访期:77 [59];[108]个月),进行了一系列临床和仪器研究(ECG, ECHO, HM, MRI),遗传检测级联家族筛查(NGS+Sanger)和分离分析。在73例(46.8%)先证者中发现家族性DCM的诊断标准。在47例(64.4%)家族性病例中发现了DCM的遗传原因,而在19例(22.9%)患者中发现了散发型DCM的致病变异。优势突变为titin基因的截断变异(10.9%)和lamin A/C (LMNA)基因的变异(8.33%)。累积无事件生存期(Kaplan-Meier曲线)评估结果显示,LMNA携带者室性心动过速事件的5年预后较差(x2=39.9;P = 0.0001)和综合不良结局(x2=12.1;p = 0.001)。有家族性DCM的先证者(log range x2=38.5;p= 0.0001)与散发性dcm患者相比,预后最差,累积生存率低。DCM队列的级联临床家族筛查和基因检测将家族性DCM的诊断水平从4.5%提高到46.8%。LMNA突变与危及生命的心律失常的关联被定义为具有预后意义,这证实了心律失常风险的遗传分层的重要作用。
{"title":"Genetic spectrum of familial and sporadic dilated cardiomyopathy: arrhythmic phenotypes associated with mutations in the lamin A/C (LMNA) gene","authors":"T. Vaikhanskaya, L. Sivitskaya, T. Kurushka, A. Liaudanski, N. Danilenko","doi":"10.38109/2225-1685-2023-2-26-37","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-2-26-37","url":null,"abstract":"Purpose. To study the diagnostic value of cascade family screening and the spectrum of genetic variants in patients with familial and sporadic DCM, assess clinical outcomes and comparative analysis of 5-year event-free survival.Materials and methods. The study included 156 unrelated patients with verified DCM. All patients (aged 46 [34; 57] years; 125 (80%) male; LVEF 31 [24; 38]%; LV EDD 68 [61; 74] mm; follow-up period - 77 [59; 108] months) a complex of clinical and instrumental studies (ECG, ECHO, HM, MRI), cascade family screening with genetic testing (NGS+Sanger) and segregation analysis were performed.Results. Criteria for familial DCM were identified in 73 (46.8%) probands. The genetic cause of DCM was identified in 47 (64,4%) familial cases, while for sporadic form DCM pathogenic variants were detected in 19 (22,9%) patients. The dominant mutations were truncating variants in the titin gene (10,9%) and variants in the lamin A/C (LMNA) gene - 8,33%. As a result of the evaluation of cumulative event-free survival (Kaplan-Meier curves), LMNA carriers showed the poor 5-year prognosis for ventricular tachyarrhythmic events (x2=39.9; p=0,0001) and composite adverse outcomes (x2=12.1; p=0.001). Probands who had a familial DCM (log rang x2=38.5; p=0,0001) showed the worst prognosis and low cumulative survival when compared with patients of the sporadic DCM.Conclusion. Cascade clinical family screening and genetic testing in the DCM cohort increased the level of diagnosis of familial DCM from 4.5% to 46.8%. Associations of LMNA mutations with life-threatening tachyarrhythmias are defined as prognostically significant, that confirms the important role of genetic stratification of arrhythmic risk.","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":"83036823","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
Characteristics of patients with chronic heart failure in different age groups 不同年龄组慢性心力衰竭患者的特点
Pub Date : 2023-05-26 DOI: 10.38109/2225-1685-2023-2-20-25
R. I. Jafarov, G. E. Bayramova, M. Bagirov, Kh. A. Alieva, Z. K. Rakhmanov, A.  B. Hajiev
{"title":"Characteristics of patients with chronic heart failure in different age groups","authors":"R. I. Jafarov, G. E. Bayramova, M. Bagirov, Kh. A. Alieva, Z. K. Rakhmanov, A.  B. Hajiev","doi":"10.38109/2225-1685-2023-2-20-25","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-2-20-25","url":null,"abstract":"","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":"81274802","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
Catheter ablation of atrial fibrillation versus antiarrhythmic therapy in patients with left ventricular systolic dysfunction 左室收缩功能不全患者心房颤动导管消融与抗心律失常治疗
Pub Date : 2023-05-26 DOI: 10.38109/2225-1685-2023-2-12-18
D. F. Ardus, T. Uskach, O. Sapelnikov, M. Makeev, S. N. Tereschenko, R. Akchurin
{"title":"Catheter ablation of atrial fibrillation versus antiarrhythmic therapy in patients with left ventricular systolic dysfunction","authors":"D. F. Ardus, T. Uskach, O. Sapelnikov, M. Makeev, S. N. Tereschenko, R. Akchurin","doi":"10.38109/2225-1685-2023-2-12-18","DOIUrl":"https://doi.org/10.38109/2225-1685-2023-2-12-18","url":null,"abstract":"","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":"80733499","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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Eurasian heart journal
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