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The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies 基因检测在遗传性心肌病患者的管理和预后中的作用。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-01 DOI: 10.1016/j.tcm.2024.06.002
Sophie Hespe , Belinda Gray , Rajesh Puranik , Stacey Peters , Joanna Sweeting , Jodie Ingles
Inherited cardiomyopathies are a heterogeneous group of heart muscle conditions where disease classification has traditionally been based on clinical characteristics. However, this does not always align with genotype. While there are well described challenges of genetic testing, understanding the role of genotype in patient management is increasingly required. We take a gene-by-gene approach, reviewing current evidence for the role of genetic testing in guiding prognosis and management of individuals with inherited cardiomyopathies. In particular, focusing on causal variants in genes definitively associated with arrhythmogenic cardiomyopathy, dilated cardiomyopathy, and hypertrophic cardiomyopathy. This review identifies genotype-specific disease sub-groups with strong evidence supporting the use of genetics in clinical management and highlights that at present, the spectrum of clinical utility is not reflected in current guidelines. Of 13 guideline or expert consensus statements for management of cardiomyopathies, there are seven gene-specific therapeutic recommendations that have been published from four documents. Understanding how genotype influences phenotype provides evidence for the role of genetic testing for prognostic and therapeutic purposes, moving us closer to precision-medicine based care.
遗传性心肌病是一组异质性心肌疾病,传统上根据临床特征进行疾病分类。然而,这并不总是与基因型一致。虽然基因检测的挑战已被充分描述,但了解基因型在患者管理中的作用却越来越有必要。我们采用逐个基因的方法,回顾了基因检测在指导预后和管理遗传性心肌病患者方面作用的现有证据。特别是,重点关注与心律失常性心肌病、扩张型心肌病和肥厚型心肌病明确相关的基因中的可信变异。本综述确定了有确凿证据支持在临床管理中使用遗传学方法的基因型特异性疾病亚组,并强调目前的指南并未反映临床效用的范围。在 13 份有关心肌病管理的指南或专家共识声明中,有 4 份文件发布了 7 项针对特定基因的治疗建议。了解基因型如何影响表型为基因检测在预后和治疗方面发挥作用提供了证据,使我们更接近基于精准医疗的护理。
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引用次数: 0
Role of multimodality imaging in infective endocarditis: A comparison of the major society guidelines in the United States and Europe 多模态成像在感染性心内膜炎中的作用:美国和欧洲主要学会指南的比较。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-01 DOI: 10.1016/j.tcm.2024.04.005
Poornima Vinod , Mohamed Khayata , Alice Haouzi , Bo Xu
Infective endocarditis (IE) is a life-threatening condition, and early diagnosis and management are critical. There is emerging evidence on the role of advanced imaging modalities including dedicated cardiac computed tomography (CCT), and 18F-fluorodeoxyglucose positron emission tomography (PET). The updated 2023 European Society of Cardiology (ESC) guidelines have emphasized increased utilization of multimodality imaging in the diagnosis and management of IE. In this review, we elaborate on recent recommendations from the updated 2023 ESC guidelines, with comparisons to the current American College of Cardiology (ACC)/American Heart Association (AHA) guidelines, focusing on multimodality imaging in IE.
感染性心内膜炎(IE)是一种危及生命的疾病,早期诊断和治疗至关重要。关于先进成像模式的作用,包括专用的心脏计算机断层扫描(CCT)和18F-氟脱氧葡萄糖正电子发射断层扫描(PET),已有新的证据。2023 年更新的欧洲心脏病学会(ESC)指南强调在 IE 的诊断和管理中更多地使用多模式成像。在这篇综述中,我们详细阐述了 2023 年欧洲心脏病学会(ESC)更新指南的最新建议,并与当前的美国心脏病学会(ACC)/美国心脏协会(AHA)指南进行了比较,重点关注 IE 的多模态成像。
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引用次数: 0
Noise and light exposure and cardiovascular outcomes: A review of evidence, potential mechanisms and implications 噪音和光暴露与心血管结果:证据、潜在机制和影响综述。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-01 DOI: 10.1016/j.tcm.2024.07.001
Piotr Jemielita , Gregory Y.H. Lip , Anna Kurasz , Michał Święczkowski , Adrianna Krepsztul-Jemielita , Sławomir Dobrzycki , Łukasz Kuźma
Cardiovascular diseases (CVD) are the leading cause of global non-communicable disease-related deaths. In recent years there has been increasing discussion about the influence of environmental risk factors, including noise and light, on the occurrence and course of these conditions. Recent studies highlight the impact of road traffic noise on an elevated risk of stroke and increased mortality in the course of coronary artery disease (CAD). In the case of threats arising from light pollution, there are more limited published studies; however, these show an increased hospitalization risk associated with CAD.
Existing analyses cannot dismiss these environmental factors, highlighting the need for further research. Future studies should investigate not only road traffic noise but also consider railway and aircraft noise. Additionally, research on light pollution should include younger individuals too. In the future, incorporating individual assessments of noise and light pollution exposure, along with the identification of particularly vulnerable groups, could contribute to refining methods of individual risk stratification and implementing new preventive strategies.
心血管疾病(CVD)是全球非传染性疾病相关死亡的主要原因。近年来,人们越来越多地讨论环境风险因素(包括噪声和光线)对这些疾病的发生和发展的影响。最近的研究强调了道路交通噪音对中风风险升高和冠状动脉疾病(CAD)病程中死亡率增加的影响。至于光污染造成的威胁,目前已发表的研究较为有限;不过,这些研究表明,冠状动脉疾病会增加住院风险。现有的分析无法排除这些环境因素的影响,因此需要进一步研究。未来的研究不仅应调查道路交通噪声,还应考虑铁路和飞机噪声。此外,对光污染的研究也应包括年轻人。未来,结合对噪声和光污染暴露的个体评估,以及对特别易感人群的识别,将有助于完善个体风险分层方法和实施新的预防策略。
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引用次数: 0
Editorial commentary: Coronary plaque characterization and cardiovascular risk using radiomics and artificial intelligence 利用放射组学和人工智能分析冠状动脉斑块特征和心血管风险。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-01 DOI: 10.1016/j.tcm.2024.07.005
Ciprian Ionita, John M. Canty
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引用次数: 0
Editorial commentary: Infective endocarditis: Harnessing the power of advanced imaging 编辑评论:感染性心内膜炎:利用先进成像技术的力量。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-01 DOI: 10.1016/j.tcm.2024.05.001
Mina Owlia , David H. Hsi
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引用次数: 0
Editorial commentary: Towards gene based recommendations in cardiomyopathy 编辑评论:基于基因的心肌病建议。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-01 DOI: 10.1016/j.tcm.2024.07.002
Saskia N. van der Crabben , Alex V. Postma , Arjan C. Houweling
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引用次数: 0
Breaking the silence: Transforming aortic aneurysm screening to save lives. 打破沉默:改变主动脉瘤筛查,拯救生命。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-12-31 DOI: 10.1016/j.tcm.2024.12.010
Ting Wang
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引用次数: 0
Moving the boundaries of the diagnosis of unexplained sudden cardiac arrest and sudden cardiac death in the young. 移动年轻人不明原因心脏骤停和心脏性猝死诊断的边界。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-12-27 DOI: 10.1016/j.tcm.2024.12.009
Matteo Vatta
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引用次数: 0
The triad of physical activity: An optimal combination for cardiovascular health. 身体活动的三位一体:心血管健康的最佳组合。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-12-24 DOI: 10.1016/j.tcm.2024.12.008
Rubén López-Bueno, Rodrigo Núñez-Cortés, Joaquín Calatayud, Lars Louis Andersen, Borja Del Pozo Cruz, Fanny Petermann-Rocha

The combination of moderate to vigorous physical activity with muscle-strengthening physical activity is increasingly recognized for its significant impact on cardiovascular health. This narrative review synthesizes current evidence to compare the cardiovascular benefits of combined physical activity versus singular forms, especially in primary prevention. The main focus is on hormonal, nervous, genetic, and molecular adaptations, critical mechanisms underlying the body's response to physical activity. Our findings endorse superior benefits for combined moderate to vigorous and muscle-strengthening physical activity for preventing cardiovascular disease (CVD). This combined approach synergistically enhances cardiovascular function and more effectively reduces risk factors than either activity alone. While more research is needed to distinguish between moderate and vigorous activity levels in combination with muscle-strengthening physical activity, current evidence supports comprehensive physical activity guidelines that maximize cardiovascular health. These findings highlight the importance of integrated physical activity regimens in public health strategies and clinical practice to mitigate the global CVD burden.

人们越来越认识到,将中度到剧烈的体育活动与增强肌肉的体育活动相结合,对心血管健康有重要影响。这篇叙述性综述综合了目前的证据,比较了综合体育活动与单一形式的心血管益处,特别是在一级预防方面。主要关注激素、神经、遗传和分子适应,以及身体对体育活动反应的关键机制。我们的研究结果证实,结合中度至剧烈运动和增强肌肉的体育活动对预防心血管疾病(CVD)有更好的益处。这种联合方法协同增强心血管功能,比单独一种活动更有效地减少危险因素。虽然需要更多的研究来区分适度和剧烈的运动水平与增强肌肉的体育活动相结合,但目前的证据支持全面的体育活动指南,以最大限度地提高心血管健康。这些发现强调了综合体育活动方案在公共卫生战略和临床实践中减轻全球心血管疾病负担的重要性。
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引用次数: 0
Effects of geography on the genesis, prevention and treatment of atherosclerotic heart disease. 地理环境对动脉粥样硬化性心脏病的形成、预防和治疗的影响。
IF 7.3 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-12-17 DOI: 10.1016/j.tcm.2024.12.007
L Samuel Wann
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引用次数: 0
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Trends in Cardiovascular Medicine
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