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Genetic and Environmental Contributors To Congenital Heart Disease. 遗传和环境因素导致先天性心脏病。
IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-01 Epub Date: 2025-05-26 DOI: 10.1007/s11936-025-01091-5
Talita Z Choudhury, Benjamin L Gilbert, Vidu Garg

Purpose of review: Paradigms surrounding congenital heart disease (CHD) etiology represent an evolving area of study. Traditionally, genetic causes of CHD have been classified into chromosomal abnormalities, copy number variation, and single-gene disorders, while environmental contributors include external and intrinsic maternal factors that impair cardiac development. Here, we summarize established causes of CHD and highlight emerging insights into CHD pathogenesis that may inform future treatment options.

Recent findings: Recent advancements in next-generation sequencing technologies have uncovered novel genetic etiologies underlying CHD including oligogenic inheritance and pathogenic noncoding variation. In addition, industrialization and transformation of society has introduced new environmental risk factors that may contribute to CHD. Further, mechanistic insight into both genetic and environmental factors underlying CHD has led to discovery of novel therapeutic strategies.

Summary: New methodologies have greatly improved our comprehension of the heterogeneous mechanisms underlying CHD, catalyzing the discovery of effective therapeutic strategies to reduce CHD incidence.

综述的目的:围绕先天性心脏病(CHD)病因的范式代表了一个不断发展的研究领域。传统上,冠心病的遗传原因分为染色体异常、拷贝数变异和单基因疾病,而环境因素包括损害心脏发育的外部和内在母体因素。在这里,我们总结了冠心病的已知原因,并强调了对冠心病发病机制的新见解,这些见解可能为未来的治疗选择提供信息。最新发现:新一代测序技术的最新进展揭示了冠心病的新遗传病因,包括寡基因遗传和致病性非编码变异。此外,工业化和社会转型引入了新的环境风险因素,可能导致冠心病的发生。此外,对CHD的遗传和环境因素的机制了解已经导致了新的治疗策略的发现。新方法极大地提高了我们对冠心病异质性机制的理解,促进了有效治疗策略的发现,以降低冠心病的发病率。
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引用次数: 0
Patent Ductus Arteriosus in Extremely Preterm Infants: Update on Current Diagnostic and Treatment Options. 极早产儿动脉导管未闭:当前诊断和治疗方案的更新。
IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-01 Epub Date: 2025-07-22 DOI: 10.1007/s11936-025-01101-6
Kimberly Fernandez Trahan, Elaine L Shelton, Maria Gillam-Krakauer

Purpose of review: Patent ductus arteriosus (PDA) treatment strategies in the neonatal period differ widely. Variations in what constitutes hemodynamic significance (hsPDA) and scarcity of high-quality data on long-term outcomes has contributed to lack of standardization. Filling these knowledge gaps would impact clinical decision making.

Recent findings: Recent trials have not shown improvement in outcomes with early compared to expectant management. Targeted neonatal echocardiography (TnECHO) has facilitated timely intervention with encouraging outcomes. Acetaminophen use is increasing even in infants < 24 weeks. Advancements in percutaneous transcatheter occlusion, characterization of the unique expression of genes and ion channels of the ductus arteriosus, and attention to nonpharmacologic strategies are essential advances in PDA management.

Summary: With increased utilization of TnECHO, clarification of the scope of transcatheter-based closures, further understanding of the genetic and molecular factors involved in ductal tone, and the appreciation of the off-target effects that medications and fluid balance can have on the DA, providing targeted, individualized PDA treatment is achievable. However, the development of innovative therapies to promote ductal closure is a necessity.

回顾目的:新生儿期动脉导管未闭(PDA)的治疗策略差异很大。血液动力学意义(hsPDA)的差异和长期结果高质量数据的缺乏导致缺乏标准化。填补这些知识空白将影响临床决策。最近的发现:最近的试验并没有显示早期治疗与预期治疗相比有改善的结果。有针对性的新生儿超声心动图(TnECHO)促进了及时干预和令人鼓舞的结果。摘要:随着TnECHO应用的增加,经导管闭合范围的明确,对导管张力的遗传和分子因素的进一步了解,以及对药物和体液平衡可能对DA产生的脱靶效应的认识,提供有针对性的个体化PDA治疗是可以实现的。然而,发展创新疗法来促进导管闭合是必要的。
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引用次数: 0
Applications of 3D Printing Technology in Diagnosis and Management of Heart Failure. 3D打印技术在心力衰竭诊断和治疗中的应用
IF 0.8 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-08-01 Epub Date: 2024-06-21 DOI: 10.1007/s11936-024-01045-3
Debkalpa Goswami, Madihah Kazim, Christopher T Nguyen

Purpose of review: 3D printing (3DP) technology has emerged as a valuable tool for surgeons and cardiovascular interventionalists in developing and tailoring patient-specific treatment strategies, especially in complex and rare cases. This short review covers advances, primarily in the last three years, in the use of 3DP in the diagnosis and management of heart failure and related cardiovascular conditions.

Recent findings: Latest studies include utilization of 3DP in ventricular assist device placement, congenital heart disease identification and treatment, pre-operative planning and management in hypertrophic cardiomyopathy, clinician as well as patient education, and benchtop mock circulatory loops.

Summary: Studies reported benefits for patients including significantly reduced operation time, potential for lower radiation exposure, shorter mechanical ventilation times, lower intraoperative blood loss, and less total hospitalization time, as a result of the use of 3DP. As 3DP technology continues to evolve, clinicians, basic science researchers, engineers, and regulatory authorities must collaborate closely to optimize the utilization of 3D printing technology in the diagnosis and management of heart failure.

综述目的:3D打印(3DP)技术已经成为外科医生和心血管介入医生开发和定制患者特异性治疗策略的宝贵工具,特别是在复杂和罕见的病例中。这篇简短的综述主要涵盖了过去三年在使用3d打印技术诊断和治疗心力衰竭及相关心血管疾病方面的进展。最新发现:最新研究包括3d打印在心室辅助装置放置、先天性心脏病的识别和治疗、肥厚性心肌病的术前计划和管理、临床医生和患者教育以及台式模拟循环中的应用。摘要:研究报告了使用3DP对患者的益处,包括手术时间显著缩短、潜在的低辐射暴露、更短的机械通气时间、更少的术中出血量和更少的总住院时间。随着3D打印技术的不断发展,临床医生、基础科学研究人员、工程师和监管机构必须密切合作,优化3D打印技术在心力衰竭诊断和管理中的应用。
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引用次数: 0
Advanced Heart Failure Therapies in Neuromuscular Diseases. 神经肌肉疾病的高级心力衰竭治疗。
IF 0.8 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-08-01 Epub Date: 2024-06-25 DOI: 10.1007/s11936-024-01046-2
Arianne Clare Agdamag, Phoo Pwint Nandar, W H Wilson Tang

Purpose of review: The main objective of this review article is to discuss the prevalence, utilization, and outcomes associated with advanced heart failure therapies among patients with neuromuscular disorders.

Recent findings: Neuromuscular disorders often have multisystem involvement with a high prevalence of cardiovascular pathology. With the improvement in management of respiratory related complications, heart failure is now the leading cause of mortality in this patient population. Advanced heart failure therapies with durable left ventricular assist devices and heart transplantation have proven to be feasible and safe treatment options in selected patients.

Summary: Management of neuromuscular disease involves multidisciplinary team involvement given the systemic nature of the disease. Early recognition and close monitoring of these patients will allow for timely initiation of advanced heart failure therapies that can lead to successful outcomes.

综述目的:这篇综述文章的主要目的是讨论神经肌肉疾病患者晚期心力衰竭治疗的患病率、利用率和相关结果。近期研究发现:神经肌肉疾病常累及多系统,并伴有高患病率的心血管病理。随着呼吸相关并发症管理的改善,心力衰竭现在是这类患者死亡的主要原因。先进的心力衰竭治疗与持久的左心室辅助装置和心脏移植已被证明是可行和安全的治疗选择在选定的患者。摘要:鉴于神经肌肉疾病的全身性,该疾病的治疗涉及多学科团队的参与。早期识别和密切监测这些患者将允许及时启动先进的心力衰竭治疗,可以导致成功的结果。
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引用次数: 0
Moving Beyond Cardiotoxicity Detection to Prevention: A Pharmacologic Review 从检测心脏毒性到预防心脏毒性:药理学综述
Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-01-02 DOI: 10.1007/s11936-023-01030-2
Susan Dent, Ryan K Rader, Olivia White, Brandy Patterson, Heather N. Moore
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引用次数: 0
Racial and Ethnic Disparities in Implantable Cardioverter-Defibrillator Utilization: A Contemporary Review 植入式心律转复除颤器使用中的种族和民族差异:当代回顾
Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-12-20 DOI: 10.1007/s11936-023-01025-z
Tarryn Tertulien, Kelvin Bush, L. R. Jackson, U. Essien, Lauren Eberly
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引用次数: 0
Immunotherapy-Associated Atherosclerosis: A Comprehensive Review of Recent Findings and Implications for Future Research 免疫疗法相关动脉粥样硬化:最新研究结果及对未来研究的影响综述
Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-12-15 DOI: 10.1007/s11936-023-01024-0
Antonia Chan, Stefan Torelli, Evaline Cheng, Ryan Batchelder, S. Waliany, Joel Neal, Ronald M Witteles, Patricia K Nguyen, Paul Cheng, Han Zhu
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引用次数: 0
Who Should Interpret Screening Preparticipation ECGs in Young Athletes? 谁来解释年轻运动员的参赛前心电图筛查?
Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-12-02 DOI: 10.1007/s11936-023-01029-9
Alexander Hutchinson, Nicolas K. Goff, Nicole Cain, Peter N. Dean, Deepak Kamat, Lanier Jackson
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引用次数: 0
Autonomic Modulation Options in Cardiovascular Disease Treatment: Current and Emerging 心血管疾病治疗中的自主神经调节选择:当前和新出现的
Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-11-22 DOI: 10.1007/s11936-023-01023-1
Albert Vien, Poornima Balaji, Pierre C. Qian
{"title":"Autonomic Modulation Options in Cardiovascular Disease Treatment: Current and Emerging","authors":"Albert Vien, Poornima Balaji, Pierre C. Qian","doi":"10.1007/s11936-023-01023-1","DOIUrl":"https://doi.org/10.1007/s11936-023-01023-1","url":null,"abstract":"","PeriodicalId":35912,"journal":{"name":"Current Treatment Options in Cardiovascular Medicine","volume":"40 1","pages":"1-18"},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139249538","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
Digital Tools for Decision-Making in Coronary Artery Disease 冠状动脉疾病决策数字工具
Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-11-21 DOI: 10.1007/s11936-023-01022-2
Daniel Grubman, Scott Grubman, Claudia See, Thomas Breen, Jiun-Ruey Hu, S. E. Altin
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引用次数: 0
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Current Treatment Options in Cardiovascular Medicine
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