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Contemporary clinical role of echocardiography in patients with advanced heart failure 超声心动图在晚期心力衰竭患者中的当代临床作用
IF 4.6 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-19 DOI: 10.1007/s10741-024-10434-6
Vincenzo Nuzzi, Paolo Manca, Massimiliano Mulè, Simona Leone, Luca Fazzini, Manlio G. Cipriani, Francesco F. Faletra

Echocardiography represents an essential tool for imagers and clinical cardiologists in the management of patients with heart failure. Advanced heart failure (AdHF) is a more severe and, typically, later stage of HF that exposes patients to a high risk of adverse outcomes, with a 1-year mortality rate of around 50%. Currently, several therapies are available to improve the outcomes of these patients, reduce their mortality rate, and, possibly, delay the need for advanced therapies such as heart transplant and long-term mechanical circulatory support. When accurately performed and interpreted, echocardiography provides crucial information to properly tailor medical and device therapy of patients with AdHF and to identify those at even higher risk. In this review, we present the state of the art of echocardiography applications in the clinical management of patients with AdHF. We will discuss the role of echocardiography chronologically, beginning with the prediction of AdHF, proceeding through diagnosis, and detailing how echocardiography informs clinical decision-making, before concluding with indications for advanced therapies.

Graphical Abstract

The role of echocardiography in the management of patients with advanced heart failure. Echocardiography is a useful method for predicting the occurrence of AdHF during follow-up of patients with HF (top line). The diagnosis of AdHF requires an echocardiographic criterion for AdHF (middle line). In patients with AdHF, echocardiography is useful to identify patients who will benefit most from medical therapy adjustment, device therapy, and LVAD implantation. HF, heart failure; LA, left atrium; RV, right ventricle; LVEF, left ventricular ejection fraction. HF, heart failure; LA, left atrium; LVEF, left ventricular ejection fraction; RV, right ventricle

超声心动图是图像学家和临床心脏病专家治疗心力衰竭患者的重要工具。晚期心力衰竭(AdHF)是一种更为严重的心力衰竭,通常是心力衰竭的晚期阶段,患者面临不良后果的风险很高,1 年死亡率约为 50%。目前,有几种疗法可以改善这些患者的预后,降低其死亡率,并有可能推迟对心脏移植和长期机械循环支持等高级疗法的需求。如果超声心动图检查和解读准确,就能为 AdHF 患者提供至关重要的信息,从而正确调整医疗和器械疗法,并识别风险更高的患者。在这篇综述中,我们将介绍超声心动图在 AdHF 患者临床管理中的应用现状。我们将按时间顺序讨论超声心动图的作用,从 AdHF 的预测开始,到诊断,并详细介绍超声心动图如何为临床决策提供信息,最后介绍晚期疗法的适应症。超声心动图是随访心力衰竭患者期间预测 AdHF 发生的有效方法(上图)。AdHF 的诊断需要有 AdHF 的超声心动图标准(中线)。对于 AdHF 患者,超声心动图有助于确定哪些患者将从药物治疗调整、设备治疗和 LVAD 植入中获益最多。HF,心力衰竭;LA,左心房;RV,右心室;LVEF,左心室射血分数。HF(心力衰竭);LA(左心房);LVEF(左心室射血分数);RV(右心室
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引用次数: 0
Lifestyle interventions in cardiometabolic HFpEF: dietary and exercise modalities 心血管代谢性高血压(HFpEF)的生活方式干预:饮食和运动方式
IF 4.6 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-16 DOI: 10.1007/s10741-024-10439-1
Antonio Vacca, Rongling Wang, Natasha Nambiar, Federico Capone, Catherine Farrelly, Ahmed Mostafa, Leonardo A. Sechi, Gabriele G. Schiattarella

Heart failure with preserved ejection fraction (HFpEF) is rapidly growing as the most common form of heart failure. Among HFpEF phenotypes, the cardiometabolic/obese HFpEF — HFpEF driven by cardiometabolic alterations — emerges as one of the most prevalent forms of this syndrome and the one on which recent therapeutic success have been made. Indeed, pharmacological approaches with sodium-glucose cotransporter type 2 inhibitors (SGLT2i) and glucagon-like peptide-1 receptor agonists (GLP-1RA) have proved to be effective due to metabolic protective effects. Similarly, lifestyle changes, including diet and exercise are crucial in HFpEF management. Increasing evidence supports the important role of diet and physical activity in the pathogenesis, prognosis, and potential reversal of HFpEF. Metabolic derangements and systemic inflammation are key features of HFpEF and represent the main targets of lifestyle interventions. However, the underlying mechanisms of the beneficial effects of these interventions in HFpEF are incompletely understood. Hence, there is an unmet need of tailored lifestyle intervention modalities for patients with HFpEF. Here we present the current available evidence on lifestyle interventions in HFpEF management and therapeutics, discussing their modalities and potential mechanisms.

射血分数保留型心力衰竭(HFpEF)正迅速发展成为最常见的心力衰竭形式。在射血分数保留型心力衰竭表型中,心脏代谢/肥胖型射血分数保留型心力衰竭(HFpEF)--由心脏代谢改变引起的射血分数保留型心力衰竭--是该综合征最常见的形式之一,也是最近治疗取得成功的一种。事实上,使用钠-葡萄糖共转运体 2 型抑制剂(SGLT2i)和胰高血糖素样肽-1 受体激动剂(GLP-1RA)的药物治疗方法因其代谢保护作用而被证明是有效的。同样,生活方式的改变,包括饮食和运动,在高频血栓栓塞治疗中也至关重要。越来越多的证据表明,饮食和体育锻炼在 HFpEF 的发病机制、预后和潜在逆转中发挥着重要作用。代谢紊乱和全身炎症是 HFpEF 的主要特征,也是生活方式干预的主要目标。然而,这些干预措施对 HFpEF 产生有益影响的内在机制尚未完全明了。因此,为 HFpEF 患者量身定制生活方式干预方法的需求尚未得到满足。在此,我们将介绍目前生活方式干预在高频心衰管理和治疗中的可用证据,并讨论其模式和潜在机制。
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引用次数: 0
Heart failure with preserved ejection fraction and atrial fibrillation: catheter ablation vs. standard medical therapy — a systematic review and meta-analysis 射血分数保留型心力衰竭和心房颤动:导管消融与标准药物疗法的比较--系统回顾和荟萃分析
IF 4.6 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-15 DOI: 10.1007/s10741-024-10437-3
Mehrdad Mahalleh, Hamidreza Soleimani, Mohammadreza Pazoki, Saba Maleki, Parham Dastjerdi, Pouya Ebrahimi, Sahar Zafarmandi, Sima Shamshiri Khamene, Izat Mohammad Khawajah, Shehroze Tabassum, Rahul Bhardwaj, Jishanth Mattumpuram, Andrew Kaplan, Marmar Vaseghi, Parisa Seilani, Ali Bozorgi, Kaveh Hosseini, Stylianos Tzeis

Background

The latest guidelines advocate for catheter ablation (CA) over standard medical therapy (SMT) for managing atrial fibrillation (AF) in patients with heart failure with reduced ejection fraction (HFrEF). However, significant knowledge gaps exist regarding the effectiveness of CA vs. SMT in patients with heart failure with preserved ejection fraction (HFpEF).

Methods

PubMed, Scopus, and Embase until February 2024 were systematically searched. Given the limited number of randomized studies, propensity score-matched observational studies comparing CA with SMT in AF patients with HFpEF were also included. The primary outcome was a composite endpoint of all-cause mortality and HF hospitalization.

Results

Eight studies that enrolled 17,717 SMT and 2537 CA patients were included. CA was associated with a significantly lower risk of the composite endpoint of all-cause mortality and HF hospitalization (HR 0.61; 95% CI, 0.43–0.85). The risk of HF hospitalization (HR 0.44; 95% CI, 0.23–0.83), cardiovascular mortality (HR 0.43; 95% CI, 0.22–0.84), and AF recurrence (HR 0.53; 95% CI, 0.39–0.73) were also lower in the CA group.

Conclusion

CA demonstrated significant cardiovascular morbidity and mortality benefits compared to SMT in the HFpEF population.

背景 最新指南主张,在治疗射血分数降低型心力衰竭(HFrEF)患者的心房颤动(AF)时,采用导管消融术(CA)而非标准药物疗法(SMT)。然而,在射血分数保留型心力衰竭(HFpEF)患者中,CA 与 SMT 的疗效相比还存在很大的知识差距。方法系统检索了截至 2024 年 2 月的 PubMed、Scopus 和 Embase。由于随机研究的数量有限,因此还纳入了倾向评分匹配的观察性研究,对射血分数保留的心力衰竭患者的 CA 与 SMT 进行了比较。主要结果是全因死亡率和心房颤动住院率的复合终点。结果共纳入了 8 项研究,其中包括 17717 名 SMT 患者和 2537 名 CA 患者。CA与全因死亡率和心房颤动住院综合终点风险明显降低相关(HR 0.61;95% CI,0.43-0.85)。CA 组的 HF 住院风险(HR 0.44;95% CI,0.23-0.83)、心血管死亡率(HR 0.43;95% CI,0.22-0.84)和房颤复发风险(HR 0.53;95% CI,0.39-0.73)也较低。
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引用次数: 0
Beyond weight loss: the potential of glucagon-like peptide-1 receptor agonists for treating heart failure with preserved ejection fraction 减肥之外:胰高血糖素样肽-1 受体激动剂治疗射血分数保留型心力衰竭的潜力
IF 4.6 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-13 DOI: 10.1007/s10741-024-10438-2
Tian-Yu Wang, Qiang Yang, Xin-Yi Cheng, Jun-Can Ding, Peng-Fei Hu

Heart failure with preserved ejection fraction (HFpEF) is a heterogeneous syndrome with various phenotypes, and obesity is one of the most common and clinically relevant phenotypes of HFpEF. Obesity contributes to HFpEF through multiple mechanisms, including sodium retention, neurohormonal dysregulation, altered energy substrate metabolism, expansion of visceral adipose tissue, and low-grade systemic inflammation. Glucagon-like peptide-1 (GLP-1) is a hormone in the incretin family. It is produced by specialized cells called neuroendocrine L cells located in the distal ileum and colon. GLP-1 reduces blood glucose levels by promoting glucose-dependent insulin secretion from pancreatic β cells, suppressing glucagon release from pancreatic α cells, and blocking hepatic gluconeogenesis. Recent evidence suggests that GLP-1 receptor agonists (GLP-1 RAs) can significantly improve physical activity limitations and exercise capacity in obese patients with HFpEF. The possible cardioprotective mechanisms of GLP-1 RAs include reducing epicardial fat tissue thickness, preventing activation of the renin–angiotensin–aldosterone system, improving myocardial energy metabolism, reducing systemic inflammation and cardiac oxidative stress, and delaying the progression of atherosclerosis. This review examines the impact of obesity on the underlying mechanisms of HFpEF, summarizes the trial data on cardiovascular outcomes of GLP-1 RAs in patients with type 2 diabetes mellitus, and highlights the potential cardioprotective mechanisms of GLP-1 RAs to give a pathophysiological and clinical rationale for using GLP-1 RAs in obese HFpEF patients.

射血分数保留型心力衰竭(HFpEF)是一种具有多种表型的异质性综合征,而肥胖是 HFpEF 最常见且与临床相关的表型之一。肥胖通过多种机制导致心衰,包括钠潴留、神经激素失调、能量底物代谢改变、内脏脂肪组织扩张和低度全身炎症。胰高血糖素样肽-1(GLP-1)是增量素家族中的一种激素。它由位于回肠远端和结肠中的称为神经内分泌 L 细胞的特化细胞产生。GLP-1 通过促进胰腺β细胞分泌葡萄糖依赖性胰岛素、抑制胰腺α细胞释放胰高血糖素以及阻断肝脏葡萄糖生成来降低血糖水平。最近的证据表明,GLP-1 受体激动剂(GLP-1 RAs)可显著改善肥胖型高频心衰患者的体力活动限制和运动能力。GLP-1 RAs 可能的心脏保护机制包括减少心外膜脂肪组织厚度、防止肾素-血管紧张素-醛固酮系统活化、改善心肌能量代谢、减少全身炎症和心脏氧化应激以及延缓动脉粥样硬化的进展。本综述探讨了肥胖对 HFpEF 潜在机制的影响,总结了 GLP-1 RAs 对 2 型糖尿病患者心血管预后的试验数据,并强调了 GLP-1 RAs 的潜在心脏保护机制,从而为肥胖 HFpEF 患者使用 GLP-1 RAs 提供了病理生理学和临床依据。
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引用次数: 0
New insights gained from cellular landscape changes in myocarditis and inflammatory cardiomyopathy. 从心肌炎和炎症性心肌病的细胞景观变化中获得新见解。
IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-01 Epub Date: 2024-06-19 DOI: 10.1007/s10741-024-10406-w
Weiteng Wang, Hao Jia, Xiumeng Hua, Jiangping Song

Advances in the etiological classification of myocarditis and inflammatory cardiomyopathy (ICM) have reached a consensus. However, the mechanism of myocarditis/ICM remains unclear, which affects the development of treatment and the improvement of outcome. Cellular transcription and metabolic reprogramming, and the interactions between cardiomyocytes and non-cardiomyocytes, such as the immune cells, contribute to the process of myocarditis/ICM. Recent efforts have been made by multi-omics techniques, particularly in single-cell RNA sequencing, to gain a better understanding of the cellular landscape alteration occurring in disease during the progression. This article aims to provide a comprehensive overview of the latest studies in myocarditis/ICM, particularly as revealed by single-cell sequencing.

心肌炎和炎症性心肌病(ICM)的病因分类取得了进展,并已达成共识。然而,心肌炎/炎症性心肌病的发病机制仍不清楚,这影响了治疗的发展和疗效的改善。细胞转录和代谢重编程,以及心肌细胞与非心肌细胞(如免疫细胞)之间的相互作用,都是心肌炎/心肌病发生的原因。近年来,多组学技术,尤其是单细胞 RNA 测序技术的应用,使人们对疾病进展过程中发生的细胞景观变化有了更深入的了解。本文旨在全面概述有关心肌炎/心肌梗死的最新研究,尤其是单细胞测序所揭示的内容。
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引用次数: 0
Renal function in PUSH-AHF: a summary of newly released data from the 2024 Annual Congress of the Heart Failure Association of the ESC. PUSH-AHF中的肾功能:ESC心力衰竭协会2024年年会最新发布的数据摘要。
IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-01 Epub Date: 2024-06-27 DOI: 10.1007/s10741-024-10411-z
Alexander Aaron Yacob, Kelsey M Flint

The Pragmatic Urinary Sodium-based algoritHm in Acute Heart Failure (PUSH-AHF) study, published in August of 2023, was the first randomized clinical trial to compare natriuresis-guided decongestion (based on spot urinary sodium measurement) to standard of care in patients with acute heart failure with congestion receiving loop diuretic therapy. Based on results from their trial, the authors concluded that natriuresis-guided loop diuretic treatment was safe and improved natriuresis and diuresis without impacting long-term clinical outcomes. The original PUSH-AHF trial included limited information about renal outcomes and left clinicians with important questions about how natriuresis-guided decongestion might affect their patients' renal function. On May 12, 2024, however, at the 2024 Annual Congress of the HFA-ESC, Dr. Kevin Damman provided an in-depth exploration of renal outcomes from the trial when he presented a pre-specified, secondary analysis, renal function in the PUSH-AHF trial. This review puts the sub-study findings into context by considering the history of the original trial from which they came from and explaining the need for a close study of its renal outcomes particularly. It highlights the potential impact of renal function in PUSH-AHF on clinical practice and future directions that should be considered by the cardiology research community.

2023 年 8 月发表的 "基于尿钠的急性心力衰竭实用算法(PUSH-AHF)"研究是第一项随机临床试验,该试验比较了接受襻利尿剂治疗的急性心力衰竭充血患者在利尿剂指导下的减充血(基于定点尿钠测量)和标准护理。根据试验结果,作者得出结论:利尿剂引导下的襻利尿剂治疗是安全的,可改善利尿和利尿效果,且不会影响长期临床疗效。最初的 PUSH-AHF 试验中有关肾脏预后的信息有限,临床医生对于纳尿引导下的减压治疗可能会如何影响患者的肾功能还存在重要疑问。然而,在 2024 年 5 月 12 日举行的 HFA-ESC 2024 年年会上,凯文-达曼(Kevin Damman)博士发表了一份预先指定的二次分析报告《PUSH-AHF 试验中的肾功能》,对该试验的肾功能结果进行了深入探讨。这篇综述介绍了次级研究结果的来龙去脉,考虑了这些结果所来源的原始试验的历史,并解释了对其肾脏结果进行仔细研究的必要性。它强调了 PUSH-AHF 中肾功能对临床实践的潜在影响以及心脏病学研究界应考虑的未来方向。
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引用次数: 0
The role of PCSK9 in heart failure and other cardiovascular diseases-mechanisms of action beyond its effect on LDL cholesterol. PCSK9 在心力衰竭和其他心血管疾病中的作用--除了对低密度脂蛋白胆固醇的影响之外的作用机制。
IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-01 Epub Date: 2024-06-18 DOI: 10.1007/s10741-024-10409-7
Mieczysław Dutka, Karolina Zimmer, Michał Ćwiertnia, Tomasz Ilczak, Rafał Bobiński

Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a protein that regulates low-density lipoprotein (LDL) cholesterol metabolism by binding to the hepatic LDL receptor (LDLR), ultimately leading to its lysosomal degradation and an increase in LDL cholesterol (LDLc) levels. Treatment strategies have been developed based on blocking PCSK9 with specific antibodies (alirocumab, evolocumab) and on blocking its production with small regulatory RNA (siRNA) (inclisiran). Clinical trials evaluating these drugs have confirmed their high efficacy in reducing serum LDLc levels and improving the prognosis in patients with atherosclerotic cardiovascular diseases. Most studies have focused on the action of PCSK9 on LDLRs and the subsequent increase in LDLc concentrations. Increasing evidence suggests that the adverse cardiovascular effects of PCSK9, particularly its atherosclerotic effects on the vascular wall, may also result from mechanisms independent of its effects on lipid metabolism. PCSK9 induces the expression of pro-inflammatory cytokines contributing to inflammation within the vascular wall and promotes apoptosis, pyroptosis, and ferroptosis of cardiomyocytes and is thus involved in the development and progression of heart failure. The elimination of PCSK9 may, therefore, not only be a treatment for hypercholesterolaemia but also for atherosclerosis and other cardiovascular diseases. The mechanisms of action of PCSK9 in the cardiovascular system are not yet fully understood. This article reviews the current understanding of the mechanisms of PCSK9 action in the cardiovascular system and its contribution to cardiovascular diseases. Knowledge of these mechanisms may contribute to the wider use of PCSK9 inhibitors in the treatment of cardiovascular diseases.

Proprotein convertase subtilisin/kexin type-9 (PCSK9)是一种通过与肝脏低密度脂蛋白受体(LDLR)结合来调节低密度脂蛋白(LDL)胆固醇代谢的蛋白质,最终导致其溶酶体降解和低密度脂蛋白胆固醇(LDLc)水平升高。目前已开发出通过特异性抗体(alirocumab、evolocumab)阻断 PCSK9 和通过小调控 RNA(siRNA)(inclisiran)阻断 PCSK9 生成的治疗策略。评估这些药物的临床试验证实,它们在降低动脉粥样硬化性心血管疾病患者血清低密度脂蛋白胆固醇(LDLc)水平和改善预后方面具有很高的疗效。大多数研究侧重于 PCSK9 对 LDLRs 的作用以及随后 LDLc 浓度的增加。越来越多的证据表明,PCSK9 对心血管的不良影响,尤其是对血管壁的动脉粥样硬化影响,也可能来自于其对脂质代谢影响之外的机制。PCSK9 可诱导促炎细胞因子的表达,导致血管壁发炎,并促进心肌细胞凋亡、热凋亡和铁凋亡,从而参与心力衰竭的发生和发展。因此,消除 PCSK9 不仅可以治疗高胆固醇血症,还可以治疗动脉粥样硬化和其他心血管疾病。PCSK9在心血管系统中的作用机制尚未完全明了。本文回顾了目前对 PCSK9 在心血管系统中的作用机制及其对心血管疾病的影响的认识。对这些机制的了解可能有助于在治疗心血管疾病时更广泛地使用 PCSK9 抑制剂。
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引用次数: 0
STEP HFpEF DM: a sweet sequel. STEP HFpEF DM:甜蜜续集。
IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-01 Epub Date: 2024-06-18 DOI: 10.1007/s10741-024-10408-8
Josephine Harrington
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引用次数: 0
Biosensors with left ventricular assist devices. 带有左心室辅助装置的生物传感器。
IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-01 Epub Date: 2024-06-28 DOI: 10.1007/s10741-024-10413-x
Mahmoud Abbassy, Muhammad Zain Ali, Riya Manas Sharma, Yohan Porus Irani, Adil Dahlan, Maimoona Azhar, Nadeem Aslam, Babar Hasan, Aamir Hameed

Heart failure imposes a significant global health burden, standing as a primary contributor to mortality. Various indicators and physiological shifts within the body may hint at distinct cardiac conditions. Specific biosensors have the capability to identify these changes. Integrating or embedding these biosensors into mechanical circulatory support devices (MCSDs), such as left ventricular assist devices (LVADs), becomes crucial for monitoring alterations in biochemical and physiological factors subsequent to an MCSD implantation. Detecting abnormal changes early in the course of disease progression will allow for improved patient outcomes and prognosis following an MCSD implantation. The aim of this review is to explore the available biosensors that may be coupled or implanted alongside LVADs to monitor biomarkers and changes in physiological parameters. Different fabrication materials for the biosensors are discussed, including their advantages and disadvantages. This review also examines the feasibility of integrating feedback control mechanisms into LVAD systems using data from the biosensors. Challenges facing this emerging technology and future directions for research and development are outlined as well. The overarching goal is to provide an overview of how implanted biosensors may improve the performance and outcomes of LVADs through continuous monitoring and closed-loop control.

心力衰竭给全球健康带来沉重负担,是导致死亡的主要因素。人体内的各种指标和生理变化可能暗示着不同的心脏状况。特定的生物传感器能够识别这些变化。将这些生物传感器集成或嵌入机械循环支持装置(MCSD),如左心室辅助装置(LVAD),对于监测 MCSD 植入后生化和生理因素的变化至关重要。在疾病进展的早期发现异常变化将有助于改善植入 MCSD 后患者的预后。本综述旨在探讨现有的生物传感器,这些传感器可与 LVAD 相结合或植入 LVAD,以监测生物标志物和生理参数的变化。文中讨论了生物传感器的不同制造材料,包括其优缺点。本综述还探讨了利用生物传感器的数据将反馈控制机制整合到 LVAD 系统中的可行性。此外,还概述了这一新兴技术所面临的挑战以及未来的研发方向。总体目标是概述植入式生物传感器如何通过持续监测和闭环控制改善 LVAD 的性能和效果。
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引用次数: 0
Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis. 心肌病中的 Nexilin:揭示其多种作用,特别关注心内膜纤维细胞增生。
IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-01 Epub Date: 2024-07-10 DOI: 10.1007/s10741-024-10416-8
Mahsa Rahimzadeh, Stephanie Tennstedt, Zouhair Aherrahrou

Cardiac disorders exhibit considerable heterogeneity, and understanding their genetic foundations is crucial for their diagnosis and treatment. Recent genetic analyses involving a growing number of participants have uncovered novel mutations within both coding and non-coding regions of DNA, contributing to the onset of cardiac conditions. The NEXN gene, encoding the Nexilin protein, an actin filament-binding protein, is integral to normal cardiac function. Mutations in this gene have been linked to cardiomyopathies, cardiovascular disorders, and sudden deaths. Heterozygous or homozygous variants of the NEXN gene are associated with the development of endocardial fibroelastosis (EFE), a rare cardiac condition characterized by excessive collagen and elastin deposition in the left ventricular endocardium predominantly affecting infants and young children. EFE occurs both primary and secondary to other conditions and often leads to unfavorable prognoses and outcomes. This review explores the role of NEXN genetic variants in cardiovascular disorders, particularly EFE, revealing that functional mutations are not clustered in a specific domain of Nexilin based on the cardiac disorder phenotype. Our review underscores the importance of understanding genetic mutations for the diagnosis and treatment of cardiac conditions.

心脏疾病具有很大的异质性,了解其遗传基础对诊断和治疗至关重要。最近,越来越多的参与者参与了基因分析,发现了 DNA 编码和非编码区域内的新型突变,这些突变导致了心脏疾病的发生。编码肌动蛋白丝结合蛋白 Nexilin 蛋白的 NEXN 基因是正常心脏功能不可或缺的组成部分。该基因突变与心肌病、心血管疾病和猝死有关。NEXN 基因的杂合或同源变异与心内膜纤维细胞增生症(EFE)的发生有关,这是一种罕见的心脏疾病,其特点是左心室心内膜胶原蛋白和弹性蛋白沉积过多,主要影响婴幼儿。EFE 既可原发,也可继发于其他疾病,通常会导致不良的预后和结局。本综述探讨了 NEXN 基因变异在心血管疾病(尤其是 EFE)中的作用,揭示了功能性突变并不是根据心脏疾病表型聚集在 Nexilin 的特定领域。我们的综述强调了了解基因突变对诊断和治疗心脏疾病的重要性。
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引用次数: 0
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Heart Failure Reviews
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