cardiomyopathy

心肌病
  • 文章类型: Case Reports
    使用抗疟药羟氯喹是系统性红斑狼疮患者的标准治疗方法。它有助于减少疾病相关的损害,防止疾病发作,并提高总体生存率。羟氯喹的作用机制包括干扰细胞的溶酶体降解导致液泡的积累。视网膜病变是羟氯喹的良好描述的不良反应,因此需要长期使用后与眼科医生进行筛查。虽然很少报道,羟氯喹的心脏不良反应也可能发生。在这份报告中,我们介绍了一例23岁女性患者,该患者使用羟氯喹治疗,可能是由于Libman-Sacks心内膜炎导致卒中,经胸超声心动图发现患有严重肥厚型心肌病.
    The use of the antimalarial drug hydroxychloroquine is a standard treatment in patients with systemic lupus erythematosus. It helps reduce disease-associated damage, prevents disease flare, and improves overall survival. The mechanism of action of hydroxychloroquine includes interference with lysosomal degradation of cells leading to the accumulation of vacuoles. Retinopathy is a well-described adverse effect of hydroxychloroquine, thus requiring screening with an ophthalmologist after prolonged use. Although rarely reported, cardiac adverse effects of hydroxychloroquine can also occur. In this report, we present a case of a 23-year-old woman with systemic lupus erythematosus on hydroxychloroquine who presented with stroke possibly due to Libman-Sacks endocarditis and was found to have severe hypertrophic cardiomyopathy on transthoracic echocardiogram.
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  • 文章类型: Journal Article
    The diagnosis of Cirrhotic Cardiomyopathy is based on severe hepatic cirrosis with deterioration of cardiac function without previous cardiopathy, but this is subclinical during a long time. In this second part we review the non-invasive diagnostic methods and their prognostic value in patients with or without hepatic transplant, from ECG to cardiac images of magnetic resonance.
    El diagnóstico de Cardiomiopatía Cirrótica está basado en la presencia de cirrosis hepática avanzada con alteraciones de la función cardíaca sin cardiopatía pre-existente, pero en gran parte de su evolución natural ésta es subclínica. Por ello son imprescindibles los estudios complementarios no invasivos para confirmar el diagnóstico y su rol pronóstico en pacientes con o sin trasplante hepático. En esta segunda parte revisamos los métodos de diagnóstico desde el ECG hasta las imágenes de resonancia magnética cardíaca.
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  • 文章类型: Systematic Review
    扩张型心肌病(DCM)是心力衰竭(HF)和心脏移植(HTx)的常见原因,遗传因素发挥了重要作用。近年来,RNA结合蛋白基序20(RBM20),影响具有不同细胞功能的各种蛋白质的基因剪接,被鉴定为第一个具有调控特性的DCM基因。RBM20的变体与严重形式的DCM有关。这项关键的系统评价的目的是分析RBM20心肌病的临床特征和结果。根据PRISMA指南,在PubMed中进行了搜索,Scopus和WebofScience电子数据库使用以下关键字:“RBM20”;“心肌病”;“心律失常”;“心力衰竭”。共筛选181条记录,其中27项研究可能与该主题相关。通过适用纳入和排除标准,分析了8篇报告398例RBM20致病变异患者的论文.演示时的平均年龄为41岁。59%的病例熟悉心肌病,55%的先证者报告有阳性家族史。影像学数据显示左心室射血分数轻度降低(平均LVEF40%),虽然在24.3%的病例中报告了组织特征,33%的患者显示钆晚期增强。19.4%的患者出现持续单形性室性心动过速或室颤的复合结局,12%的人接受HTX。心律失常结果没有性别差异,而接受HTx的患者中有96.4%是男性。总之,RBM20心肌病表现出严重的表型表达,在心律失常负担和HF进展方面。
    Dilated cardiomyopathy (DCM) is a common cause of heart failure (HF) and heart transplantation (HTx), with genetic factors playing a significant role. In recent years, the RNA-binding protein motif 20 (RBM20), which affects the gene splicing of various proteins with different cellular functions, was identified as the first DCM gene with regulatory properties. Variants of RBM20 have been associated with severe forms of DCM. The aim of this critical systematic review was to analyse RBM20 cardiomyopathy clinical features and outcomes. According to PRISMA guidelines, a search was run in the PubMed, Scopus and Web of Science electronic databases using the following keywords: \"RBM20\"; \"cardiomyopathy\"; \"arrhythmias\"; \"heart failure\". A total of 181 records were screened, of which 27 studies were potentially relevant to the topic. Through the application of inclusion and exclusion criteria, eight papers reporting 398 patients with RBM20 pathogenic variants were analysed. The mean age at presentation was 41 years. Familiarity with cardiomyopathy was available in 59% of cases, with 55% of probands reporting a positive family history. Imaging data indicated a mild reduction of left ventricular ejection fraction (mean LVEF 40%), while tissue characterization was reported in 24.3% of cases, showing late gadolinium enhancement in 33% of patients. Composite outcomes of sustained monomorphic ventricular tachycardia or ventricular fibrillation occurred in 19.4% of patients, with 12% undergoing HTx. There were no gender differences in arrhythmic outcomes, while 96.4% of patients who underwent HTx were male. In conclusion, RBM20 cardiomyopathy exhibits a severe phenotypic expression, both in terms of arrhythmic burden and HF progression.
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  • 文章类型: Journal Article
    经常和过度饮酒,无论是偶发性的还是持续的滥用,在全球范围内排名第一的死亡原因。这项全面的分析旨在阐明滥用酒精是如何导致死亡的,特别关注相关的心脏异常。值得注意的是,“假日心脏综合症”的现象,与暴饮暴食有关,被认为是诱发潜在致命的心律失常。此外,持续饮酒与酒精性心肌病的发展有关,一种引起心力衰竭和心律失常的疾病。此外,经历戒酒的个体经常表现出正常的心律中断,有死亡的危险.这篇综述进一步探讨了其他与酒精相关的死亡因素,包括高血压的可能性增加,脑血管意外(中风),以及过度饮酒和塔克特苏诺综合征之间的联系。
    Frequent and excessive consumption of alcohol, be it episodic or sustained misuse, ranks among the top causes of mortality globally. This comprehensive analysis seeks to elucidate how alcohol misuse precipitates death, with a particular focus on associated cardiac anomalies. Notably, the phenomenon of \"Holiday Heart Syndrome\", linked to binge drinking, is recognized for inducing potentially fatal cardiac arrhythmias. Moreover, persistent alcohol consumption is implicated in the development of alcoholic cardiomyopathy, a condition that underlies heart failure and arrhythmic disturbances of the heart. Additionally, individuals undergoing withdrawal from alcohol frequently exhibit disruptions in normal heart rhythm, posing a risk of death. This review further delves into additional alcohol-related mortality factors, including the heightened likelihood of hypertension, cerebrovascular accidents (strokes), and the connection between excessive alcohol use and Takotsubo syndrome.
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  • 文章类型: Journal Article
    目的:六分钟步行测试(6MWT)是心力衰竭(HF)患者功能能力的常用指标。心肌病(CM)试验的主要临床研究终点,包括转甲状腺素蛋白介导的CM淀粉样变性(ATTR-CM),通常仅限于住院和死亡率。目的:探讨6MWT与CM住院率和病死率的关系,包括ATTR-CM。方法:使用CM的搜索词进行PRISMA指导的系统文献综述,6MWT,住院和死亡率。结果:确定了41项研究,报告了CM患者的6MWT数据和住院或死亡率数据。数据表明,更大的6MWT距离与CM住院或死亡风险降低相关。结论:6MWT是CM试验中公认的替代终点,包括ATTR-CM。
    Aim: The six-minute walk test (6MWT) is a common measure of functional capacity in patients with heart failure (HF). Primary clinical study end points in cardiomyopathy (CM) trials, including transthyretin-mediated amyloidosis with CM (ATTR-CM), are often limited to hospitalization and mortality. Objective: To investigate the relationship between the 6MWT and hospitalization or mortality in CM, including ATTR-CM. Method: A PRISMA-guided systematic literature review was conducted using search terms for CM, 6MWT, hospitalization and mortality. Results: Forty-one studies were identified that reported 6MWT data and hospitalization or mortality data for patients with CM. The data suggest that a greater 6MWT distance is associated with a reduced risk of hospitalization or mortality in CM. Conclusion: The 6MWT is an accepted alternative end point in CM trials, including ATTR-CM.
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  • 文章类型: Journal Article
    目的:转甲状腺素蛋白淀粉样心肌病(ATTR-CM)的特征是心肌中转甲状腺素蛋白(TTR)蛋白的积累。本范围审查的目的是提供临床试验和观察性研究的描述性摘要,这些临床试验和观察性研究评估了ATTR-CM中使用的各种药物的临床疗效和安全性,目的是确定文学中的当代差距,并揭示未来的研究机会。
    结果:搜索符合系统评价和荟萃分析(PRISMA)指南的首选报告项目。使用多个数据库进行文献检索,以研究ATTR-CM的治疗方式。我们提取了包括研究特征在内的数据,主要终点,和每个研究的不良事件。共有19项研究纳入我们的范围审查。8项是临床试验,11项是观察性分析。评估的药物包括tafamadis,acoramidis,revusiran,TUDCA和强力霉素,diflusinil,inotersan,eplontersen,还有patisiran.Tafamidis已被证明在ATTR-CM的管理中是有效的,特别是在早期阶段启动时。RNA干扰和反义寡核苷酸药物已显示出对生活质量的有希望的影响。此外,这篇综述发现了文献中的空白,特别是在长期结果中,比较有效性,以及将研究转化为经济背景。
    结论:多种药物选择是ATTR-CM的潜在疾病改善疗法。然而,在理解这些不同的药物疗法方面存在许多差距,保证进一步的研究。在改善预后方面,ATTR-CM的未来管理方向很有希望。
    OBJECTIVE: Transthyretin amyloid cardiomyopathy (ATTR-CM) is characterized by the accumulation of transthyretin (TTR) protein in the myocardium. The aim of this scoping review is to provide a descriptive summary of the clinical trials and observational studies that evaluated the clinical efficacy and safety of various agents used in ATTR-CM, with a goal of identifying the contemporary gaps in literature and to reveal future research opportunities.
    RESULTS: The search was performed in line with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A literature search using several databases for observational and clinical trials investigating the treatment modalities for ATTR-CM was undertaken. We extracted data including study characteristics, primary endpoints, and adverse events from each study. A total of 19 studies were included in our scoping review. 8 were clinical trials and 11 were observational analyses. The drugs evaluated included tafamadis, acoramidis, revusiran, TUDCA and doxycycline, diflusinil, inotersan, eplontersen, and patisiran. Tafamidis has shown to be efficacious in the management of ATTR-CM, particularly when initiated at earlier stages. RNA interference and antisense oligonucleotide drugs have shown promising impacts on quality of life. Additionally, this review identified gaps in the literature, particularly among long-term outcomes, comparative effectiveness, and the translation of research into economic contexts.
    CONCLUSIONS: Multiple pharmacological options are potential disease-modifying therapies for ATTR-CM. However, many gaps exist in the understanding of these various drug therapies, warranting further research. The future directions for management of ATTR-CM are promising in regard to improving prognostic implications.
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  • 文章类型: Journal Article
    心律失常经常伴随心力衰竭和左心室功能障碍。心动过速,心房颤动,室性早搏可以诱发一种可逆形式的扩张型心肌病(CM),称为心律失常诱发的CM(AiCM)。有趣的问题是,为什么某些人更容易受到AiCM的影响,尽管有类似的心律失常负担。主要挑战是确定心律失常对左心室收缩功能障碍的贡献程度。平均心率>100次/分的患者应考虑AiCM,心房颤动,或PVC负荷>10%。当CM在消除引起的心律失常后反转时,就会确认AiCM。治疗的选择取决于具体的心律失常,患者合并症,和偏好。左心室功能恢复后,如果心肌底物异常持续存在,则持续的随访至关重要.AiCM的准确诊断和治疗有可能提高患者的生活质量,改善临床结果,减少住院人数和整体医疗费用。
    Arrhythmias frequently accompany heart failure and left ventricular dysfunction. Tachycardias, atrial fibrillation, and premature ventricular contractions can induce a reversible form of dilated cardiomyopathy (CM) known as arrhythmia-induced CM (AiCM). The intriguing question is why certain individuals are more susceptible to AiCM, despite similar arrhythmia burdens. The primary challenge is determining the extent of arrhythmias\' contribution to left ventricular systolic dysfunction. AiCM should be considered in patients with a mean heart rate of >100 beats/min, atrial fibrillation, or a PVC burden of >10%. Confirmation of AiCM occurs when CM reverses upon eliminating the responsible arrhythmia. Therapy choice depends on the specific arrhythmia, patient comorbidities, and preferences. After left ventricular function is restored, ongoing follow-up is essential if an abnormal myocardial substrate persists. Accurate diagnosis and treatment of AiCM have the potential to enhance patients\' quality of life, improve clinical outcomes, and reduce hospital admissions and overall health care costs.
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  • 文章类型: Journal Article
    密切监测蒽环类药物化疗期间的心脏毒性对于早期诊断和治疗指导至关重要。目前,监测依赖于心脏成像和心脏生物标志物如心肌肌钙蛋白和利钠肽的连续测量。然而,这些常规生物标志物是心脏损害的非特异性指标.探索新的,与心脏毒性的潜在病理机制有明确联系的更多特异性生物标志物有望提高检测蒽环类药物早期引起的心脏毒性的特异性和敏感性.miRNAs(microRNAs),小型单股,参与表观遗传调控的非编码RNA序列,通过靶向表达和翻译影响各种生理和病理过程。作为新的生物标志物候选物出现,循环miRNA表现出对降解的抗性,并提供直接的病理机制联系。这篇综述全面概述了它们作为心脏毒性早期生物标志物的潜力及其病理机制联系。
    Close monitoring for cardiotoxicity during anthracycline chemotherapy is crucial for early diagnosis and therapy guidance. Currently, monitoring relies on cardiac imaging and serial measurement of cardiac biomarkers like cardiac troponin and natriuretic peptides. However, these conventional biomarkers are nonspecific indicators of cardiac damage. Exploring new, more specific biomarkers with a clear link to the underlying pathomechanism of cardiotoxicity holds promise for increased specificity and sensitivity in detecting early anthracycline-induced cardiotoxicity. miRNAs (microRNAs), small single-stranded, noncoding RNA sequences involved in epigenetic regulation, influence various physiological and pathological processes by targeting expression and translation. Emerging as new biomarker candidates, circulating miRNAs exhibit resistance to degradation and offer a direct pathomechanistic link. This review comprehensively outlines their potential as early biomarkers for cardiotoxicity and their pathomechanistic link.
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  • 文章类型: Journal Article
    糖尿病(DM)是一类代谢疾病,影响全球约5%的人。与DM相关的高死亡率主要是由于其严重的临床并发症。包括糖尿病肾病,视网膜病变,神经病,和心肌病。白藜芦醇(RSV)是一种天然,已知生物活性多酚在动物模型和人类中具有各种健康促进作用。
    在这篇评论中,我们综述了RSV在糖尿病并发症中的预防和治疗作用,重点阐述了RSV的分子作用机制.
    为了准备这次审查,所有关于这个主题的基础和临床可用文献都是通过电子数据库收集的,包括PubMed,WebofScience,Scopus,谷歌学者。因此,我们总结了以前评估RSV对糖尿病并发症的影响及其机制的研究。本评论仅包括截至2023年1月发表的英语语言研究。
    RSV改善葡萄糖稳态,降低胰岛素抵抗,诱导自噬,调节脂质代谢,保护胰腺β细胞,改善代谢紊乱,并增加GLUT4表达。RSV诱导的这些作用与这种多酚试剂在糖尿病受试者的各种器官中升高AMP激活的蛋白激酶和Sirtuin1的表达/活性的能力密切相关。导致糖尿病并发症的预防和治疗。此外,据报道,RSV的抗氧化和抗炎特性参与其在糖尿病并发症中的作用,如视网膜病变和肾病。
    RSV是改善糖尿病并发症的有前途的化合物。然而,RSV确切的抗糖尿病机制有待进一步研究.
    UNASSIGNED: Diabetes mellitus (DM) is a category of metabolic conditions affecting about 5% of people worldwide. High mortality associated with DM is mostly due to its severe clinical complications, including diabetic nephropathy, retinopathy, neuropathy, and cardiomyopathy. Resveratrol (RSV) is a natural, biologically active polyphenol known to have various health-promoting effects in animal models and humans.
    UNASSIGNED: In this review, we have reviewed the preventive and therapeutic role of RSV on diabetes complications with emphasis on its molecular mechanisms of action.
    UNASSIGNED: To prepare this review, all the basic and clinical available literatures regarding this topic were gathered through electronic databases, including PubMed, Web of Science, Scopus, and Google Scholar. Therefore, we summarized previous studies that have evaluated the effects of RSV on diabetic complications and their mechanisms. Only English language studies published up to January 2023 were included in this review.
    UNASSIGNED: RSV improves glucose homeostasis, decreases insulin resistance, induces autophagy, regulates lipid metabolism, protects pancreatic β-cells, ameliorates metabolic disorders, and increases the GLUT4 expression. These effects induced by RSV are strongly associated with ability of this polyphenol agent to elevation expression/activity of AMP-activated protein kinase and Sirtuin 1 in various organs of diabetic subjects, which leads to prevention and therapy of diabetic complications. In addition, antioxidant and anti-inflammatory properties of RSV were reported to be involved in its action in diabetic complications, such as retinopathy and nephropathy.
    UNASSIGNED: RSV is a promising compound for improving diabetic complications. However, the exact antidiabetic mechanisms of RSV need to be further investigated.
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  • 文章类型: Journal Article
    尽管小儿心肌病在儿童中很少见,有显著相关的发病率和死亡率。病因从先天性代谢错误到家族性基因突变和肌细胞损伤各不相同。主要类别包括扩张,肥大,限制性的,和非压实。诊断通常涉及临床病史和超声心动图的组合。横截面成像的使用越来越受欢迎。不同亚型之间的管理不同,可能涉及医疗和手术干预的组合,具体取决于临床状况。
    Though pediatric cardiomyopathy is rare in children, there is significant associated morbidity and mortality. Etiology varies from inborn errors of metabolism to familial genetic mutations and myocyte injury. Major classes include dilated, hypertrophic, restrictive, and non-compaction. Diagnosis generally involves a combination of clinical history and echocardiography. The use of cross-sectional imaging is gaining popularity. Management varies between subtype and may involve a combination of medical and surgical interventions depending on clinical status.
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