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Intravenous iron in patients with iron deficiency and heart failure: a review of modern evidence. 缺铁性心力衰竭患者静脉注射铁剂:现代证据综述。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-05-01 Epub Date: 2024-02-14 DOI: 10.1097/HCO.0000000000001121
Stormi E Gale, Andrew Willeford, Katherine Sandquist, Kristin Watson

Purpose of review: Iron deficiency is common in patients with heart failure, affecting up to half of ambulatory patients and an even greater percentage of patients admitted for acute decompensation. Iron deficiency in this population is also associated with poor outcomes, including worse quality of life in addition to increased hospitalizations for heart failure and mortality. Evidence suggests that patients with iron deficiency in heart failure may benefit from repletion with IV iron.

Recent findings: In this review, we outline the etiology and pathophysiology of iron deficiency in heart failure as well as various iron formulations available. We discuss evidence for intravenous iron repletion with a particular focus on recent studies that have evaluated its effects on hospitalizations and mortality. Finally, we discuss areas of uncertainty and future study and provide practical guidance for iron repletion.

Summary: In summary, there is overwhelming evidence that intravenous iron repletion in patients with iron deficiency in heart failure is both beneficial and safe. However, further evidence is needed to better identify which patients would most benefit from iron repletion as well as the ideal repletion strategy.

审查目的:铁缺乏症在心力衰竭患者中很常见,多达一半的非卧床患者和更高比例的因急性失代偿而入院的患者会受到影响。该人群缺铁还与不良预后有关,包括生活质量下降、心衰住院率和死亡率上升。有证据表明,心力衰竭缺铁患者可从静脉补铁中获益:在这篇综述中,我们概述了心力衰竭缺铁的病因和病理生理学,以及现有的各种铁制剂。我们讨论了静脉补铁的证据,特别关注了近期评估其对住院率和死亡率影响的研究。最后,我们讨论了存在不确定性的领域和未来的研究,并为铁剂补给提供了实用指导。总结:总之,有大量证据表明,对心力衰竭缺铁患者静脉补铁既有益又安全。然而,还需要进一步的证据来更好地确定哪些患者最受益于补铁以及理想的补铁策略。
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引用次数: 0
Genetic causes of lymphatic disorders: recent updates on the clinical and molecular aspects of lymphatic disease. 淋巴疾病的遗传原因:淋巴疾病临床和分子方面的最新进展。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-05-01 Epub Date: 2024-03-13 DOI: 10.1097/HCO.0000000000001116
Catharine Bowman, Stanley G Rockson

Purpose of review: The lymphatic system facilitates several key functions that limit significant morbidity and mortality. Despite the impact and burden of lymphatic disorders, there are many remaining disorders whose genetic substrate remains unknown. The purpose of this review is to provide an update on the genetic causes of lymphatic disorders, while reporting on newly proposed clinical classifications of lymphatic disease.

Recent findings: We reviewed several new mutations in genes that have been identified as potential causes of lymphatic disorders including: MDFIC, EPHB 4 , and ANGPT2. Furthermore, the traditional St. George's Classification system for primary lymphatic anomalies has been updated to reflect the use of genetic testing, both as a tool for the clinical identification of lymphatic disease and as a method through which new sub-classifications of lymphatic disorders have been established within this framework. Finally, we highlighted recent clinical studies that have explored the impact of therapies such as sirolimus, ketoprofen, and acebilustat on lymphatic disorders.

Summary: Despite a growing body of evidence, current literature demonstrates a persistent gap in the number of known genes responsible for lymphatic disease entities. Recent clinical classification tools have been introduced in order to integrate traditional symptom- and time-based diagnostic approaches with modern genetic classifications, as highlighted in the updated St. George's classification system. With the introduction of this novel approach, clinicians may be better equipped to recognize established disease and, potentially, to identify novel causal mutations. Further research is needed to identify additional genetic causes of disease and to optimize current clinical tools for diagnosis and treatment.

回顾的目的:淋巴系统具有多种关键功能,可限制重大疾病的发病率和死亡率。尽管淋巴系统疾病影响巨大、负担沉重,但仍有许多疾病的遗传基础尚不清楚。本综述旨在提供淋巴系统疾病遗传原因的最新信息,同时报告新提出的淋巴系统疾病临床分类:我们回顾了几种新的基因突变,这些基因突变已被确定为淋巴系统疾病的潜在病因,包括最近的发现:我们回顾了几种新的基因突变,这些基因突变已被确定为淋巴疾病的潜在病因,包括:MDFIC、EPHB4 和 ANGPT2。此外,针对原发性淋巴异常的传统圣乔治分类系统也进行了更新,以反映基因检测的应用,这既是临床识别淋巴疾病的一种工具,也是在此框架内建立淋巴疾病新亚分类的一种方法。最后,我们重点介绍了最近开展的临床研究,这些研究探讨了西罗莫司、酮洛芬和阿司咪唑等疗法对淋巴疾病的影响。摘要:尽管证据越来越多,但目前的文献显示,导致淋巴疾病实体的已知基因数量一直存在缺口。新近推出的临床分类工具将传统的基于症状和时间的诊断方法与现代基因分类相结合,最新的圣乔治分类系统就是其中之一。随着这种新方法的引入,临床医生可以更好地识别已确定的疾病,并有可能确定新的致病突变。我们还需要进一步研究,以确定更多的遗传致病原因,并优化当前的临床诊断和治疗工具。
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引用次数: 0
Beyond Weight Loss: the Emerging Role of Incretin-Based Treatments in Cardiometabolic HFpEF. 超越减肥:基于胰岛素的治疗在心脏代谢性高频低血钾症中的新作用。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-05-01 Epub Date: 2024-01-31 DOI: 10.1097/HCO.0000000000001117
Federico Capone, Natasha Nambiar, Gabriele G Schiattarella

Purpose of review: Incretin-based drugs are potent weight-lowering agents, emerging as potential breakthrough therapy for the treatment of obesity-related phenotype of heart failure with preserved ejection fraction (HFpEF). In this review article, we will discuss the contribution of weight loss as part of the benefits of incretin-based medications in obese patients with HFpEF. Furthermore, we will describe the potential effects of glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP) receptor agonists on the heart, particularly in relation to HFpEF pathophysiology.

Recent findings: In the STEP-HFpEF trial, the GLP-1 receptor agonist semaglutide significantly improved quality of life outcomes in obese HFpEF patients. Whether the beneficial effects of semaglutide in obese patients with HFpEF are merely a consequence of body weight reduction is unclear. Considering the availability of other weight loss strategies (e.g., caloric restriction, exercise training, bariatric surgery) to be used in obese HFpEF patients, answering this question is crucial to provide tailored therapeutic options in these subjects.

Summary: Incretin-based drugs may represent a milestone in the treatment of obesity in HFpEF. Elucidating the contribution of weight loss in the overall benefit observed with these drugs is critical in the management of obese HFpEF patients, considering that other weight-lowering strategies are available and might represent potential alternative options for these patients.

综述目的:胰岛素类药物是强效的降体重药物,是治疗肥胖相关表型射血分数保留型心力衰竭(HFpEF)的潜在突破性疗法。在这篇综述文章中,我们将讨论体重减轻作为胰岛素类药物对肥胖型 HFpEF 患者的部分益处。此外,我们还将介绍胰高血糖素样肽-1(GLP-1)和葡萄糖依赖性促胰岛素多肽(GIP)受体激动剂对心脏的潜在影响,尤其是与 HFpEF 病理生理学相关的影响:在 STEP-HFpEF 试验中,GLP-1 受体激动剂semaglutide 显著改善了肥胖 HFpEF 患者的生活质量。目前尚不清楚塞马鲁肽对肥胖 HFpEF 患者的益处是否仅仅是减轻体重的结果。考虑到肥胖 HFpEF 患者可采用其他减肥策略(如限制热量、运动训练、减肥手术),回答这个问题对于为这些患者提供量身定制的治疗方案至关重要。考虑到有其他减轻体重的策略可供选择,而且这些策略可能是这些患者的潜在替代选择,因此阐明减轻体重对使用这些药物所观察到的总体益处的贡献对于肥胖 HFpEF 患者的管理至关重要。
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引用次数: 0
Decongestion (instead of ultrafiltration?). 减充血(而不是超滤?)
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-05-01 Epub Date: 2024-02-16 DOI: 10.1097/HCO.0000000000001124
Art Schuermans, Frederik H Verbrugge

Purpose of review: To summarize the contemporary evidence on decongestion strategies in patients with acute heart failure (AHF).

Recent findings: While loop diuretic therapy has remained the backbone of decongestive treatment in AHF, multiple randomized clinical trials suggest that early combination with other diuretic classes or molecules with diuretic properties should be considered. Mineralocorticoid receptor antagonists and sodium-glucose co-transporter-2 inhibitors are disease-modifying drugs in heart failure that favourably influence prognosis early on, advocating their start as soon as possible in the absence of any compelling contraindications. Short-term upfront use of acetazolamide in adjunction to intravenous loop diuretic therapy relieves congestion faster, avoids diuretic resistance, and may shorten hospitalization length. Thiazide-like diuretics remain a good option to break diuretic resistance. Currently, ultrafiltration in AHF remains mainly reserved for patient with an inadequate response to pharmacological treatment.

Summary: In most patients with AHF, decongestion can be achieved effectively and safely through combination diuretic therapies. Appropriate diuretic therapy may shorten hospitalization length and improve quality of life, but has not yet proven to reduce death or heart failure readmissions. Ultrafiltration currently has a limited role in AHF, mainly as bail-out strategy, but evidence for a more upfront use remains inconclusive.

综述目的总结有关急性心力衰竭(AHF)患者减充血策略的最新证据:虽然襻利尿剂治疗仍是急性心力衰竭患者减充血治疗的主要手段,但多项随机临床试验表明,应考虑尽早联合使用其他利尿剂或具有利尿特性的分子。矿物皮质激素受体拮抗剂和钠-葡萄糖共转运体-2抑制剂是心力衰竭的疾病改变药物,可在早期对预后产生有利影响,因此,如果没有任何令人信服的禁忌症,应尽早开始使用。在静脉注射襻利尿剂的同时,先期短期使用乙酰唑胺可更快地缓解充血,避免出现利尿剂抵抗,并可缩短住院时间。噻嗪类利尿剂仍然是打破利尿剂耐药性的良好选择。小结:对于大多数 AHF 患者来说,通过联合利尿疗法可以有效、安全地缓解充血。适当的利尿剂治疗可缩短住院时间并改善生活质量,但尚未证明可减少死亡或心衰再住院率。超滤疗法目前在 AHF 中的作用有限,主要是作为一种保底策略,但是否更适合前期使用仍无定论。
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引用次数: 0
Sleep-disordered breathing in heart failure. 心力衰竭患者的睡眠呼吸障碍。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-05-01 Epub Date: 2024-02-19 DOI: 10.1097/HCO.0000000000001125
Gregory R Jackson, Justin Durland, Frank Hoyland

Purpose of review: This review addresses the evolving intersection of sleep-disordered breathing (SDB) and heart failure, a topic of increasing clinical significance due to the high prevalence of SDB in heart failure patients and its impact on morbidity and mortality. It reflects recent advancements in diagnostic methodologies and therapeutic strategies. It emphasizes the need for heightened awareness among healthcare providers about the complex relationship between SDB and various forms of heart failure.

Recent findings: Recent studies underscore the high incidence of SDB in heart failure patients, varying with the cause of heart failure. Emerging diagnostic tools, including home sleep tests and advanced inpatient screening methods, have improved the early detection and accurate diagnosis of SDB. Novel treatment modalities, like hypoglossal and phrenic nerve stimulation, are promising, especially where conventional therapies are inadequate. The review also discusses the complexities of managing SDB in the context of different heart failure subtypes.

Summary: Findings from recent literature suggest that improved screening, diagnosis, and innovative treatment of SDB in heart failure patients can reduce morbidity, mortality, and healthcare costs. This review emphasizes the need for personalized treatment approaches tailored to individual patient profiles, highlighting the potential of new technologies and multidisciplinary strategies in clinical practice.

综述目的:由于睡眠呼吸障碍在心衰患者中的高发病率及其对发病率和死亡率的影响,这一话题的临床意义与日俱增。它反映了诊断方法和治疗策略的最新进展。它强调了医疗服务提供者需要提高对 SDB 与各种形式心力衰竭之间复杂关系的认识:最近的研究强调,SDB 在心力衰竭患者中的发病率很高,且因心力衰竭的原因而异。新出现的诊断工具,包括家庭睡眠测试和先进的住院病人筛查方法,提高了 SDB 的早期发现和准确诊断率。舌下神经和膈神经刺激等新型治疗模式前景广阔,尤其是在传统疗法效果不佳的情况下。综述还讨论了在不同心力衰竭亚型背景下管理 SDB 的复杂性:近期文献的研究结果表明,改进心衰患者 SDB 的筛查、诊断和创新治疗可降低发病率、死亡率和医疗成本。这篇综述强调了根据患者个体情况采取个性化治疗方法的必要性,突出了新技术和多学科策略在临床实践中的潜力。
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引用次数: 0
Cardiac rehabilitation for heart failure: progress and gaps in evidence and policy. 心力衰竭的心脏康复:证据和政策方面的进展与差距。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-05-01 Epub Date: 2024-02-23 DOI: 10.1097/HCO.0000000000001129
Alfred Ngo-Hamilton, Dzhalal Agakishiev, Valmiki Maharaj

Purpose of review: This review synthesizes recent research on the efficacy, optimal design, and delivery methods of cardiac rehabilitation tailored to heart failure patients. Despite established benefits, cardiac rehabilitation referral and access disparities persist, necessitating elucidation of limitations and solutions.

Recent findings: Exercise-based cardiac rehabilitation improves long-term mortality and hospitalization rates but not short-term mortality. cardiac rehabilitation further enhances quality of life and medical therapy adherence. However, cardiac rehabilitation relies on in-person delivery, presenting access barriers exacerbated during COVID-19. Significant geographic disparities exist, with analyses indicating current capacity only serves 45% of eligible US adults even if fully utilized. Referral rates also lag, disproportionately affecting women and minority groups. Research increasingly focuses on home-based and digital therapeutics modalities to expand reach, with evidence demonstrating comparable improvements across settings. Protocols and research center on heart failure with reduced ejection fraction (HFrEF), despite growing heart failure with preserved ejection fraction (HFpEF) prevalence.

Summary: Increasing referrals through standardized procedures and addressing multifactorial geographic, economic, and capacity limitations are imperative to ensure equitable cardiac rehabilitation access. Broadening HFpEF rehabilitation research and care standards also constitutes a critical practice gap requiring alignment with projected epidemiologic shifts. Advancing patient-centered, evidence-based solutions can promote rehabilitation as essential secondary prevention for wider cardiac populations.

Video abstract: http://links.lww.com/HCO/A97.

综述目的:这篇综述综述了针对心力衰竭患者的心脏康复的疗效、最佳设计和实施方法的最新研究。尽管已经证实了心脏康复的益处,但转诊和就医方面的差异依然存在,因此有必要阐明其局限性和解决方案:最近的研究结果:以运动为基础的心脏康复可改善长期死亡率和住院率,但不能改善短期死亡率。然而,心脏康复依赖于面对面的服务,这在 COVID-19 期间加剧了获得服务的障碍。分析表明,目前的服务能力即使得到充分利用,也只能为 45% 符合条件的美国成年人提供服务。转诊率也很低,对妇女和少数民族群体的影响尤为严重。研究日益关注以家庭为基础的数字治疗模式,以扩大服务范围,有证据表明不同环境下的治疗效果具有可比性。尽管射血分数降低型心力衰竭(HFrEF)的发病率不断上升,但相关协议和研究仍以射血分数降低型心力衰竭(HFpEF)为中心。摘要:通过标准化程序增加转诊,并解决地理、经济和能力等多因素限制,是确保公平心脏康复的当务之急。扩大 HFpEF 康复研究和护理标准也是一个关键的实践差距,需要与预计的流行病学变化保持一致。推进以患者为中心、以证据为基础的解决方案可以促进康复成为更广泛心脏病人群的重要二级预防手段。视频摘要:http://links.lww.com/HCO/A97。
{"title":"Cardiac rehabilitation for heart failure: progress and gaps in evidence and policy.","authors":"Alfred Ngo-Hamilton, Dzhalal Agakishiev, Valmiki Maharaj","doi":"10.1097/HCO.0000000000001129","DOIUrl":"10.1097/HCO.0000000000001129","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review synthesizes recent research on the efficacy, optimal design, and delivery methods of cardiac rehabilitation tailored to heart failure patients. Despite established benefits, cardiac rehabilitation referral and access disparities persist, necessitating elucidation of limitations and solutions.</p><p><strong>Recent findings: </strong>Exercise-based cardiac rehabilitation improves long-term mortality and hospitalization rates but not short-term mortality. cardiac rehabilitation further enhances quality of life and medical therapy adherence. However, cardiac rehabilitation relies on in-person delivery, presenting access barriers exacerbated during COVID-19. Significant geographic disparities exist, with analyses indicating current capacity only serves 45% of eligible US adults even if fully utilized. Referral rates also lag, disproportionately affecting women and minority groups. Research increasingly focuses on home-based and digital therapeutics modalities to expand reach, with evidence demonstrating comparable improvements across settings. Protocols and research center on heart failure with reduced ejection fraction (HFrEF), despite growing heart failure with preserved ejection fraction (HFpEF) prevalence.</p><p><strong>Summary: </strong>Increasing referrals through standardized procedures and addressing multifactorial geographic, economic, and capacity limitations are imperative to ensure equitable cardiac rehabilitation access. Broadening HFpEF rehabilitation research and care standards also constitutes a critical practice gap requiring alignment with projected epidemiologic shifts. Advancing patient-centered, evidence-based solutions can promote rehabilitation as essential secondary prevention for wider cardiac populations.</p><p><strong>Video abstract: </strong>http://links.lww.com/HCO/A97.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A deep dive into the percutaneous mitral valve data. 深度挖掘经皮二尖瓣数据。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-05-01 Epub Date: 2024-02-23 DOI: 10.1097/HCO.0000000000001128
Ana Paula Tagliari, Rodrigo Petersen Saadi, Gilbert H L Tang

Purpose of review: This review offers insights into percutaneous mitral valve management, emphasizing pivotal trials that contributed to its evolution.

Recent findings: Mitral regurgitation (MR) is a highly prevalent heart valve disease, with surgical intervention being the gold standard for managing primary MR. However, a notable proportion of patients face ineligibility criteria or are at high surgical risk, particularly in the setting of secondary MR. To fill this gap, transcatheter therapies have emerged as less invasive alternatives. Initially guided by the EVEREST trial criteria, transcatheter leaflet repair techniques have shown impressive technological improvements, addressing nowadays a wide range of anatomical scenarios. Evidence supporting the safety and efficacy of transcatheter leaflet repair is derived from pivotal trials, including EVEREST II, COAPT, MITRA-FR, and CLASP IID, and large multicenter registries including EXPAND, EXPAND G4, and EuroSMR. However, not all patients meet the anatomical and clinical criteria for leaflet repair. For those patients, transcatheter mitral valve replacement may be a minimally invasive option and multiple clinical trials are current underway.

Summary: From MitraClip to newer and more innovative technologies, the landscape of percutaneous mitral valve interventions continues to evolve, offering new hopes to patients who may not be ideal candidates for conventional surgery.

综述的目的:本综述深入探讨了经皮二尖瓣置换术的治疗方法,强调了促进其发展的关键性试验:二尖瓣反流(MR)是一种高发的心脏瓣膜疾病,手术治疗是治疗原发性二尖瓣反流的金标准。然而,有相当一部分患者不符合手术标准或手术风险较高,尤其是继发性二尖瓣反流。为了填补这一空白,经导管疗法作为创伤较小的替代疗法应运而生。最初在 EVEREST 试验标准的指导下,经导管瓣叶修复技术在技术上取得了令人瞩目的进步,如今已能应对各种解剖情况。支持经导管小叶修补术安全性和有效性的证据来自 EVEREST II、COAPT、MITRA-FR 和 CLASP IID 等关键性试验,以及 EXPAND、EXPAND G4 和 EuroSMR 等大型多中心登记。然而,并非所有患者都符合小叶修补术的解剖和临床标准。对于这些患者,经导管二尖瓣置换术可能是一种微创选择,目前正在进行多项临床试验:从MitraClip到更新、更创新的技术,经皮二尖瓣介入治疗技术不断发展,为那些不适合接受传统手术的患者带来了新的希望。
{"title":"A deep dive into the percutaneous mitral valve data.","authors":"Ana Paula Tagliari, Rodrigo Petersen Saadi, Gilbert H L Tang","doi":"10.1097/HCO.0000000000001128","DOIUrl":"10.1097/HCO.0000000000001128","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review offers insights into percutaneous mitral valve management, emphasizing pivotal trials that contributed to its evolution.</p><p><strong>Recent findings: </strong>Mitral regurgitation (MR) is a highly prevalent heart valve disease, with surgical intervention being the gold standard for managing primary MR. However, a notable proportion of patients face ineligibility criteria or are at high surgical risk, particularly in the setting of secondary MR. To fill this gap, transcatheter therapies have emerged as less invasive alternatives. Initially guided by the EVEREST trial criteria, transcatheter leaflet repair techniques have shown impressive technological improvements, addressing nowadays a wide range of anatomical scenarios. Evidence supporting the safety and efficacy of transcatheter leaflet repair is derived from pivotal trials, including EVEREST II, COAPT, MITRA-FR, and CLASP IID, and large multicenter registries including EXPAND, EXPAND G4, and EuroSMR. However, not all patients meet the anatomical and clinical criteria for leaflet repair. For those patients, transcatheter mitral valve replacement may be a minimally invasive option and multiple clinical trials are current underway.</p><p><strong>Summary: </strong>From MitraClip to newer and more innovative technologies, the landscape of percutaneous mitral valve interventions continues to evolve, offering new hopes to patients who may not be ideal candidates for conventional surgery.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of genetic testing in Marfan syndrome. 基因检测在马凡氏综合征中的作用。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-05-01 Epub Date: 2024-02-21 DOI: 10.1097/HCO.0000000000001126
Emanuele Monda, Martina Caiazza, Giuseppe Limongelli

Purpose of review: This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management.

Recent findings: The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management.

Summary: Genetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.

综述的目的:本综述旨在阐明马凡综合征(MFS)的遗传基础,并强调基因检测在诊断、鉴别诊断、基因型-表型相关性和整体疾病管理中的关键作用:最近的研究结果:FBN1 基因中致病或可能致病变体的鉴定与主动脉根部扩张或大叶外翻等特定临床特征相关,是 MFS 的主要诊断标准。了解基因型与表型的相关性有助于确定随访时机、指导主动脉根部预防性手术以及在遗传咨询中为患者及其家属提供更准确的信息。基因检测还有助于将 MFS 与其他表现为遗传性胸主动脉疾病的疾病区分开来,从而进行有针对性的个体化治疗。摘要:基因检测在 MFS 患者临床路径的不同步骤中至关重要,从诊断阶段开始,到管理和具体治疗。
{"title":"The role of genetic testing in Marfan syndrome.","authors":"Emanuele Monda, Martina Caiazza, Giuseppe Limongelli","doi":"10.1097/HCO.0000000000001126","DOIUrl":"10.1097/HCO.0000000000001126","url":null,"abstract":"<p><strong>Purpose of review: </strong>This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management.</p><p><strong>Recent findings: </strong>The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root dilatation or ectopia lentis, is a major diagnostic criterion for MFS. Understanding genotype-phenotype correlations is useful for determining the timing of follow-up, guiding prophylactic aortic root surgery, and providing more precise information to patients and their family members during genetic counseling. Genetic testing is also relevant in distinguishing MFS from other conditions that present with heritable thoracic aortic diseases, allowing for tailored and individualized management.</p><p><strong>Summary: </strong>Genetic testing is essential in different steps of the MFS patients' clinical pathway, starting from the phase of diagnosis to management and specific treatment.</p>","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Myocarditis in children 2024, new themes and continued questions. 2024 年儿童心肌炎,新的主题和继续存在的问题。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-04-25 DOI: 10.1097/HCO.0000000000001151
Jason F Goldberg, Joseph A Spinner, Jonathan H Soslow
PURPOSEWhile pediatric myocarditis incidence has increased since the coronavirus disease 2019 (COVID-19) pandemic, there remain questions regarding diagnosis, risk stratification, and optimal therapy. This review highlights recent publications and continued unanswered questions related to myocarditis in children.RECENT FINDINGSEmergence from the COVID-19 era has allowed more accurate description of the incidence and prognosis of myocarditis adjacent to COVID-19 infection and vaccine administration as well that of multi-system inflammatory disease in children (MIS-C). As cardiac magnetic resonance technology has shown increased availability and evidence in pediatric myocarditis, it is important to understand conclusions from adult imaging studies and define the use of this imaging biomarker in children. Precision medicine has begun to allow real-time molecular evaluations to help diagnose and risk-stratify cardiovascular diseases, with emerging evidence of these modalities in myocarditis.SUMMARYRecent information regarding COVID-19 associated myocarditis, cardiac magnetic resonance, and molecular biomarkers may help clinicians caring for children with myocarditis and identify needs for future investigations.
目的自2019年冠状病毒病(COVID-19)大流行以来,小儿心肌炎的发病率有所上升,但在诊断、风险分层和最佳治疗方面仍存在问题。本综述重点介绍了与儿童心肌炎相关的最新出版物和仍未解答的问题。最新发现COVID-19时代的到来使人们能够更准确地描述与COVID-19感染和疫苗接种相关的心肌炎的发病率和预后,以及儿童多系统炎症性疾病(MIS-C)的发病率和预后。随着心脏磁共振技术在小儿心肌炎中的应用和证据越来越多,了解成人成像研究的结论并确定这种成像生物标志物在儿童中的应用非常重要。摘要有关 COVID-19 相关心肌炎、心脏磁共振和分子生物标记物的最新信息可帮助临床医生护理心肌炎患儿并确定未来研究的需求。
{"title":"Myocarditis in children 2024, new themes and continued questions.","authors":"Jason F Goldberg, Joseph A Spinner, Jonathan H Soslow","doi":"10.1097/HCO.0000000000001151","DOIUrl":"https://doi.org/10.1097/HCO.0000000000001151","url":null,"abstract":"PURPOSE\u0000While pediatric myocarditis incidence has increased since the coronavirus disease 2019 (COVID-19) pandemic, there remain questions regarding diagnosis, risk stratification, and optimal therapy. This review highlights recent publications and continued unanswered questions related to myocarditis in children.\u0000\u0000\u0000RECENT FINDINGS\u0000Emergence from the COVID-19 era has allowed more accurate description of the incidence and prognosis of myocarditis adjacent to COVID-19 infection and vaccine administration as well that of multi-system inflammatory disease in children (MIS-C). As cardiac magnetic resonance technology has shown increased availability and evidence in pediatric myocarditis, it is important to understand conclusions from adult imaging studies and define the use of this imaging biomarker in children. Precision medicine has begun to allow real-time molecular evaluations to help diagnose and risk-stratify cardiovascular diseases, with emerging evidence of these modalities in myocarditis.\u0000\u0000\u0000SUMMARY\u0000Recent information regarding COVID-19 associated myocarditis, cardiac magnetic resonance, and molecular biomarkers may help clinicians caring for children with myocarditis and identify needs for future investigations.","PeriodicalId":55197,"journal":{"name":"Current Opinion in Cardiology","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140655113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic aortopathies: a case-based approach to multidisciplinary program development. 遗传性大动脉疾病:以病例为基础的多学科项目开发方法。
IF 2.3 4区 医学 Q2 Medicine Pub Date : 2024-04-22 DOI: 10.1097/HCO.0000000000001155
Christopher P Jordan, Akos Berthold, Jason Bonomo
PURPOSE OF REVIEWThe incorporation of genetic counseling and testing is essential to evaluation and management of thoracic aortic disease in patients under 60 years of age and those with family histories suspicious for heritable thoracic aortic disease and disorders associated with increased risk for acute type-A aortic dissection.RECENT FINDINGSAs many as 20% of individuals with thoracic aortic disease under the age of 60 years have autosomal dominant patterns of inheritance. A considerable number of heritability factors remain undefined for these families.SUMMARYGenetic aortopathy programs require a collaborative approach including cardiovascular specialists and surgeons, medical geneticists, genetic counselors, and allied healthcare professionals. Comprehensive evaluation and management of these patients includes collection of detailed phenotypic data to inform the broader community and identify new associated and causative genes of interest, genetic modifiers, and other risk factors. These programs optimize outcomes and reduce the overall burden in the population of acute aortic dissection and related comorbidities.
综述遗传性大动脉病变项目需要心血管专家和外科医生、医学遗传学家、遗传咨询师等多方合作才能完成。总结遗传性大动脉疾病项目需要包括心血管专家和外科医生、医学遗传学家、遗传咨询师以及联合医疗保健专业人员在内的合作方法。对这些患者的全面评估和管理包括收集详细的表型数据,以便为更广泛的社区提供信息,并确定新的相关致病基因、遗传修饰因子和其他风险因素。这些计划可优化治疗效果,减轻急性主动脉夹层和相关合并症患者的总体负担。
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引用次数: 0
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Current Opinion in Cardiology
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