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Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect. 病例报告:扩张性心肌病作为最初的表现在成人迟发性CblC缺陷。
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-22 eCollection Date: 2025-01-01 DOI: 10.3389/fcvm.2025.1610295
Dongling Xu, Chi Zhang, Lin Hao, Shaojie Bi, Aiying Xue, Liangshuai Yuan, Wenke Wang

Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, represents the most common inborn error of cobalamin metabolism, caused by pathogenic variants in the MMACHC gene. We report the case of a 27-year-old Chinese woman who presented with dilated cardiomyopathy and renal insufficiency. Blood amino acid and acylcarnitine profiling revealed elevated ratios of propionylcarnitine (C3) to acetylcarnitine (C2) and C3 to free carnitine (C0). Genetic testing identified compound heterozygous pathogenic variants in MMACHC-c.80A>G, p. (Gln27Arg) and c.609G>A, p. (Trp203Ter)-confirming the diagnosis of cblC-type methylmalonic aciduria with homocystinuria. Despite administration of vitamin B12 and betaine, her heart function did not improve. The patient eventually succumbed to severe COVID-19 infection, which led to metabolic acidosis, renal failure, and multi-organ failure. This case underscores the challenging clinical course of late-onset cblC disorder and contributes to its expanding phenotypic spectrum.

甲基丙二酸尿和同型半胱氨酸尿,即钴胺素C (cblC)型,是最常见的先天性钴胺素代谢错误,由MMACHC基因的致病性变异引起。我们报告一例27岁的中国妇女谁提出扩张性心肌病和肾功能不全。血液氨基酸和酰基肉碱分析显示丙酰基肉碱(C3)与乙酰肉碱(C2)和C3与游离肉碱(C0)的比值升高。基因检测鉴定出MMACHC-c的复合杂合致病变异。80A > G, p. (Gln27Arg)和c.609G > A, p. (Trp203Ter)-确认cblc型甲基丙二酸尿症合并同型半胱氨酸尿。尽管服用了维生素B12和甜菜碱,她的心脏功能并没有改善。患者最终死于严重的COVID-19感染,导致代谢性酸中毒、肾功能衰竭和多器官衰竭。该病例强调了迟发性慢性粒细胞白血病的临床过程的挑战性,并有助于扩大其表型谱。
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引用次数: 0
Comparative effectiveness of telmisartan vs. other angiotensin receptor blockers in reducing hypertension-related cerebrovascular and cardiovascular events: a real-world retrospective study using the TriNetX network. 替米沙坦与其他血管紧张素受体阻滞剂降低高血压相关脑血管和心血管事件的比较有效性:一项使用TriNetX网络的真实世界回顾性研究
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-22 eCollection Date: 2025-01-01 DOI: 10.3389/fcvm.2025.1715032
Tse-Yu Chen, Yi-Chun Lin, Guang-Yaw Liu, Hui-Chih Hung

Introduction: Telmisartan is a long-acting angiotensin II receptor blocker (ARB) with unique pharmacologic properties, including partial PPAR-γ activation. Its comparative effectiveness against other ARBs in real-world populations remains unclear.

Methods: We conducted a retrospective cohort study using the TriNetX Global Collaborative Network, including hypertensive patients aged 55-85 years without prior stroke, heart failure, or myocardial infarction. After 1:1 propensity score matching, 41,598 patients were included in each group.

Results: Telmisartan use was associated with a significantly lower risk of stroke (HR 0.805, 95% CI 0.751-0.863), heart failure (HR 0.75, 95% CI 0.672-0.836), and all-cause mortality (HR 0.59, 95% CI 0.542-0.642) compared to other ARBs. Subgroup analyses showed consistent benefits across sex, diabetes, chronic kidney disease, and hyperlipidemia.

Conclusions: In this large real-world matched cohort of over 83,000 patients, telmisartan was associated with superior cardiovascular and cerebrovascular outcomes compared to other ARBs, supporting its potential as a preferred antihypertensive agent in high-risk populations.

替米沙坦是一种长效血管紧张素II受体阻滞剂(ARB),具有独特的药理特性,包括部分PPAR-γ激活。在现实人群中,其与其他arb的比较效果尚不清楚。方法:我们使用TriNetX全球协作网络进行了一项回顾性队列研究,包括55-85岁无卒中、心力衰竭或心肌梗死的高血压患者。经1:1倾向评分匹配后,每组纳入41598例患者。结果:与其他arb相比,替米沙坦的使用与卒中(HR 0.805, 95% CI 0.751-0.863)、心力衰竭(HR 0.75, 95% CI 0.672-0.836)和全因死亡率(HR 0.59, 95% CI 0.542-0.642)的风险显著降低相关。亚组分析显示,在性别、糖尿病、慢性肾脏疾病和高脂血症中均有一致的益处。结论:在这个超过83,000名患者的大型现实匹配队列中,与其他arb相比,替米沙坦与更好的心脑血管预后相关,支持其作为高危人群首选降压药的潜力。
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引用次数: 0
Beyond cardiac risk factors: non-cardiovascular comorbidities in sudden cardiac death prediction. 心脏以外的危险因素:心源性猝死预测中的非心血管合并症
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-22 eCollection Date: 2026-01-01 DOI: 10.3389/fcvm.2026.1728987
Thien Tan Tri Tai Truyen, Vu Ngoc Anh Pham, Huong-Dung Thi Nguyen

Sudden cardiac death (SCD) causes 180,000-360,000 annual deaths in the United States, with mortality rates exceeding 90%. Despite advances in resuscitation science, predicting SCD remains challenging due to inconsistent definitions, subtle warning signs, and temporal variability in risk factors. While traditional cardiovascular conditions are well-integrated into risk prediction models, non-cardiovascular comorbidities remain significantly underutilized despite contributing to nearly 40% of SCD cases. This review examines evidence linking various systemic conditions to SCD risk. Neurologic disorders including epilepsy (1.6-5.89-fold increased risk), depression (1.6-2.7-fold), and anxiety (1.6-fold) elevate SCD vulnerability through autonomic dysregulation and medication effects. Respiratory conditions like COPD (1.3-3.6-fold) and obstructive sleep apnea (1.6-2.6-fold) contribute through chronic hypoxemia and inflammation. Hepatic pathology, kidney disease, anemia, and endocrine disorders (particularly diabetes with 1.7-2.4-fold risk) also demonstrate significant associations. Critically, non-cardiovascular comorbidities predict not only SCD occurrence but also initial cardiac rhythm presentation-essential for determining implantable cardioverter-defibrillator candidates, as these devices only benefit shockable rhythms. Conditions like epilepsy, depression, COPD, liver cirrhosis, and chronic kidney disease correlate with predominantly non-shockable presentations. Current prediction models incorporate few non-cardiac conditions, primarily due to historical cardiac-centric approaches, sample size constraints, complex disease interactions, and overfitting concerns. Proposed solutions include multidisciplinary research collaboration, multicenter data pooling, and advanced machine learning techniques to develop more comprehensive and accurate SCD prediction algorithms.

在美国,心源性猝死(SCD)每年导致18万至36万人死亡,死亡率超过90%。尽管复苏科学取得了进步,但由于定义不一致、预警信号微妙以及风险因素的时间变异性,预测SCD仍然具有挑战性。虽然传统的心血管疾病已被很好地纳入风险预测模型,但非心血管合并症仍未得到充分利用,尽管占SCD病例的近40%。本综述研究了与SCD风险相关的各种系统性疾病的证据。包括癫痫(1.6-5.89倍风险增加)、抑郁(1.6-2.7倍)和焦虑(1.6倍)在内的神经系统疾病通过自主神经失调和药物作用提高SCD易感性。慢性阻塞性肺疾病(COPD)(1.3-3.6倍)和阻塞性睡眠呼吸暂停(1.6-2.6倍)等呼吸系统疾病通过慢性低氧血症和炎症导致。肝脏病理、肾脏疾病、贫血和内分泌紊乱(尤其是糖尿病,风险为1.7-2.4倍)也显示出显著的相关性。至关重要的是,非心血管合并症不仅可以预测SCD的发生,还可以预测初始心律的表现——这对于确定植入式心律转复除颤器的候选患者至关重要,因为这些设备仅有利于震荡心律。癫痫、抑郁症、慢性阻塞性肺病、肝硬化和慢性肾病等疾病主要与非休克症状相关。目前的预测模型很少纳入非心脏疾病,主要是由于历史上以心脏为中心的方法、样本量限制、复杂的疾病相互作用和过度拟合问题。提出的解决方案包括多学科研究合作、多中心数据池和先进的机器学习技术,以开发更全面、更准确的SCD预测算法。
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引用次数: 0
Unraveling the temporal sequence of coronary atherosclerosis modification with lipid-lowering therapies through intravascular imaging: a narrative review. 通过血管内成像揭示降脂治疗改变冠状动脉粥样硬化的时间序列:一篇叙述性综述。
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-22 eCollection Date: 2026-01-01 DOI: 10.3389/fcvm.2026.1737177
Mingzhuang Sun, Zhenze Yu

The management of ischemic heart disease has evolved from a narrow focus on low-density lipoprotein cholesterol (LDL-C) reduction to a comprehensive strategy targeting the regression and stabilization of coronary atherosclerotic plaque. Intravascular imaging modalities, including intravascular ultrasound (IVUS), optical coherence tomography (OCT), and near-infrared spectroscopy (NIRS), have been instrumental in characterizing the temporal sequence of plaque modification in response to lipid-lowering therapy. This review synthesizes evidence demonstrating that the effects on plaque are both time-dependent and agent-specific. Statins induce rapid plaque stabilization within weeks to months via mechanisms such asanti-inflammatory effects, fibrous cap thickening, and reduction of the lipid core. With prolonged treatment (months to years), statins promote plaque volume regression and facilitate a favorable shift in plaque composition towards a more stable, calcified phenotype. Non-statin agents further augment this regression. Ezetimibe, in combination with statins, provides synergistic LDL-C lowering and enhances plaque volume reduction. PCSK9 inhibitors, recognized as one of the most potent lipid-lowering agents currently available, have been shown in several studies to promote the regression of atherosclerotic plaques and reduce plaque volume. However, their effects on plaque composition-such as calcification, fibrous tissue, fibrofatty tissue, and necrotic core-remain controversial.

缺血性心脏病的管理已经从专注于降低低密度脂蛋白胆固醇(LDL-C)发展到以冠状动脉粥样硬化斑块的消退和稳定为目标的综合策略。血管内成像方式,包括血管内超声(IVUS)、光学相干断层扫描(OCT)和近红外光谱(NIRS),已被用于表征斑块改变的时间序列,以响应降脂治疗。这篇综述综合了证据,证明对斑块的影响是时间依赖性和药物特异性的。他汀类药物通过抗炎作用、纤维帽增厚和降低脂质核心等机制,在几周到几个月内诱导斑块快速稳定。随着治疗时间的延长(数月至数年),他汀类药物可促进斑块体积缩小,并促进斑块组成向更稳定、钙化表型的有利转变。非他汀类药物进一步增强了这种回归。依折麦比与他汀类药物联合可协同降低LDL-C并增强斑块体积缩小。PCSK9抑制剂被认为是目前可用的最有效的降脂药物之一,已在多项研究中显示可促进动脉粥样硬化斑块的消退和减少斑块体积。然而,它们对斑块组成(如钙化、纤维组织、纤维脂肪组织和坏死核心)的影响仍有争议。
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引用次数: 0
Improvement initiatives in the diagnostic process of heart failure: a scoping review. 心力衰竭诊断过程中的改进措施:范围综述。
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-22 eCollection Date: 2025-01-01 DOI: 10.3389/fcvm.2025.1681976
Diego Aguiar, Rafael Gonzalez-Manzanares, Manuel Raya-Cruz, Juan Carlos Romero-Vigara, Cristina Salazar Mosteiro, Alejandro J García Díaz, Victoria Gonzalez Pastor, Amaia Ugarte de Miguel, Eduard Ródenas-Alesina

Introduction: Heart failure (HF) poses a substantial global health burden due to its high prevalence and severe clinical outcomes. Early diagnosis is critical to optimize management and reduce the economic impact of HF. This scoping review consolidates existing knowledge on strategies to improve HF diagnosis, emphasizing the utility of biomarkers, imaging techniques, artificial intelligence (AI), and care pathways.

Methods: A systematic search of PubMed/Medline and Scopus databases identified 198 relevant studies published since 2010, focusing on adult populations without a prior HF diagnosis. The inclusion criteria centered on initiatives aimed at enhancing diagnostic processes.

Results: Results indicate that biomarkers, particularly natriuretic peptides such as N-terminal prohormone of BNP (NT-proBNP), are central to early HF detection, showing high sensitivity. Emerging biomarkers, like microRNAs, offer potential for improved diagnostic accuracy. Imaging techniques, including echocardiography and lung ultrasound, remain primary tools for assessing cardiac function, while AI applications in imaging and electronic health records represent a rapidly evolving field. These tools show promising potential for early identification of HF patients, although most require further validation and standardization before routine clinical implementation. Care pathways emphasizing high-resolution consultations and integrated diagnostic tools enable prompt HF diagnosis, crucial for initiating early treatments.

Discussion: By implementing these diagnostic strategies, particularly in high-risk populations such as those with comorbid conditions, there is potential to significantly advance patient outcomes and healthcare resource management. Nevertheless, it is essential to translate these advances and discoveries into clinical practice, considering healthcare context and socioeconomic limitations, and promoting international consensus to ensure their global adoption. In conclusion, ongoing research and refinement of these diagnostic tools are imperative to effectively address the growing challenge of HF.

导语:心力衰竭(HF)由于其高患病率和严重的临床结果,造成了巨大的全球健康负担。早期诊断对于优化管理和减少心衰的经济影响至关重要。本综述整合了现有的关于提高心衰诊断策略的知识,强调了生物标志物、成像技术、人工智能(AI)和护理途径的应用。方法:系统检索PubMed/Medline和Scopus数据库,确定自2010年以来发表的198项相关研究,重点关注无既往心衰诊断的成人人群。列入标准以旨在加强诊断过程的举措为中心。结果表明,生物标志物,特别是利钠肽,如BNP n端原激素(NT-proBNP),是早期HF检测的核心,具有高灵敏度。新兴的生物标记物,如microRNAs,提供了提高诊断准确性的潜力。包括超声心动图和肺超声在内的成像技术仍然是评估心功能的主要工具,而人工智能在成像和电子健康记录中的应用代表了一个快速发展的领域。这些工具在早期识别心衰患者方面显示出很大的潜力,尽管在常规临床应用之前,大多数工具需要进一步验证和标准化。强调高分辨率会诊和综合诊断工具的护理路径能够及时诊断心衰,这对启动早期治疗至关重要。讨论:通过实施这些诊断策略,特别是在高风险人群中,如有合并症的人群中,有可能显著提高患者的治疗效果和医疗资源管理。然而,必须将这些进展和发现转化为临床实践,考虑到医疗保健环境和社会经济限制,并促进国际共识,以确保其全球采用。总之,持续的研究和改进这些诊断工具对于有效应对心衰日益严峻的挑战至关重要。
{"title":"Improvement initiatives in the diagnostic process of heart failure: a scoping review.","authors":"Diego Aguiar, Rafael Gonzalez-Manzanares, Manuel Raya-Cruz, Juan Carlos Romero-Vigara, Cristina Salazar Mosteiro, Alejandro J García Díaz, Victoria Gonzalez Pastor, Amaia Ugarte de Miguel, Eduard Ródenas-Alesina","doi":"10.3389/fcvm.2025.1681976","DOIUrl":"https://doi.org/10.3389/fcvm.2025.1681976","url":null,"abstract":"<p><strong>Introduction: </strong>Heart failure (HF) poses a substantial global health burden due to its high prevalence and severe clinical outcomes. Early diagnosis is critical to optimize management and reduce the economic impact of HF. This scoping review consolidates existing knowledge on strategies to improve HF diagnosis, emphasizing the utility of biomarkers, imaging techniques, artificial intelligence (AI), and care pathways.</p><p><strong>Methods: </strong>A systematic search of PubMed/Medline and Scopus databases identified 198 relevant studies published since 2010, focusing on adult populations without a prior HF diagnosis. The inclusion criteria centered on initiatives aimed at enhancing diagnostic processes.</p><p><strong>Results: </strong>Results indicate that biomarkers, particularly natriuretic peptides such as N-terminal prohormone of BNP (NT-proBNP), are central to early HF detection, showing high sensitivity. Emerging biomarkers, like microRNAs, offer potential for improved diagnostic accuracy. Imaging techniques, including echocardiography and lung ultrasound, remain primary tools for assessing cardiac function, while AI applications in imaging and electronic health records represent a rapidly evolving field. These tools show promising potential for early identification of HF patients, although most require further validation and standardization before routine clinical implementation. Care pathways emphasizing high-resolution consultations and integrated diagnostic tools enable prompt HF diagnosis, crucial for initiating early treatments.</p><p><strong>Discussion: </strong>By implementing these diagnostic strategies, particularly in high-risk populations such as those with comorbid conditions, there is potential to significantly advance patient outcomes and healthcare resource management. Nevertheless, it is essential to translate these advances and discoveries into clinical practice, considering healthcare context and socioeconomic limitations, and promoting international consensus to ensure their global adoption. In conclusion, ongoing research and refinement of these diagnostic tools are imperative to effectively address the growing challenge of HF.</p>","PeriodicalId":12414,"journal":{"name":"Frontiers in Cardiovascular Medicine","volume":"12 ","pages":"1681976"},"PeriodicalIF":2.8,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12874397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cryoablation and radiofrequency ablation during mitral valve surgery for rheumatic mitral valve disease: a retrospective cohort study. 风湿性二尖瓣疾病二尖瓣手术期间的冷冻消融和射频消融:一项回顾性队列研究。
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-22 eCollection Date: 2025-01-01 DOI: 10.3389/fcvm.2025.1659310
Zhanar Nurbay, Auyeskhan Dzhumabekov, Roza Kuanishbekova, Rustem Tuleutayev, Nurzhan Musrepov

Background and aims: Atrial fibrillation (AF) frequently accompanies rheumatic mitral valve disease (MVD) and adversely affects postoperative outcomes. Radiofrequency ablation (RFA) and cryoablation are commonly used during mitral valve surgery, but their comparative impact on atrial remodeling in this population remains uncertain.

Methods: This retrospective cohort included 100 patients with rheumatic MVD and persistent AF who underwent mitral valve surgery with concomitant cryoablation (n = 50) or RFA (n = 50) between June 2020 and June 2024 at centers in the Almaty region, Kazakhstan. Clinical and echocardiographic parameters were assessed preoperatively, within 48 h postoperatively, and at 6 ± 2 months.

Results: Cryoablation was associated with greater left atrial (LA) volume reduction immediately and at follow-up (both p < 0.001). Multiple linear regression identified ablation modality as the only independent predictor of LA volume reduction (β = 27.9 mL, p < 0.0001), whereas duration of rheumatic disease, BMI, EuroSCORE II, and AF recurrence were not significant. At follow-up, the reduction in right atrial short-axis diameter was smaller after cryoablation (p = 0.049), and stroke volume declined less compared with RFA (-1.2 ± 17.3 mL vs. -7.3 ± 15.8 mL; p = 0.006). Cardiopulmonary bypass time, aortic cross-clamp time, and postoperative symptom improvement were comparable between groups. Freedom from AF during follow-up was also similar (log-rank p = 0.52).

Conclusions: In patients with persistent AF and rheumatic MVD undergoing mitral valve surgery, cryoablation was associated with more pronounced early atrial reverse remodeling and better preservation of stroke volume compared with RFA, without differences in operative efficiency or short-term safety. These findings should be considered hypothesis-generating, and prospective randomized studies with standardized lesion sets are required to confirm modality-specific effects.

背景和目的:房颤(AF)常伴有风湿性二尖瓣疾病(MVD),对术后预后有不利影响。射频消融(RFA)和冷冻消融是二尖瓣手术中常用的方法,但它们对该人群心房重构的比较影响仍不确定。方法:该回顾性队列包括2020年6月至2024年6月在哈萨克斯坦阿拉木图地区的中心接受二尖瓣手术并合并冷冻消融(n = 50)或RFA (n = 50)的100例风湿性MVD和持续性房颤患者。术前、术后48小时及术后6±2个月分别评估临床和超声心动图参数。结果:冷冻消融与立即和随访时更大的左心房(LA)容积减少相关(p β = 27.9 mL, p p = 0.049),与RFA相比,卒中容积下降较小(-1.2±17.3 mL vs -7.3±15.8 mL; p = 0.006)。体外循环时间、主动脉交叉夹夹时间和术后症状改善在两组间具有可比性。随访期间房颤发生率相似(log-rank p = 0.52)。结论:在接受二尖瓣手术的持续性房颤和风湿性MVD患者中,与RFA相比,冷冻消融与更明显的早期心房反向重构和更好的卒中容量保存相关,手术效率和短期安全性无差异。这些发现应该被认为是假设产生的,需要标准化病变组的前瞻性随机研究来确认模式特异性效应。
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引用次数: 0
Reducing mitochondrial dysfunction through combination therapy to limit ischemia-reperfusion injury in male DCD rats. 通过联合治疗减少线粒体功能障碍限制雄性DCD大鼠缺血再灌注损伤。
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-21 eCollection Date: 2025-01-01 DOI: 10.3389/fcvm.2025.1625385
Zachary Kiernan, Gina Labate, Qun Chen, Mohammed Quader

Introduction: Two predominant pathways contribute to ischemia reperfusion injury (IRI) following donation after circulatory death (DCD): mitochondrial permeability transition pore (MPTP) opening and Calpain-1 (CPN1) activation. Each pathway has established inhibitors; Cyclosporine A (CyA) and MDL-28170 (MDL), respectively, which are effective in modulating IRI in a DCD heart with 25 min of warm ischemia time (WIT). We studied the effect of co-administering CyA and MDL during reperfusion on infarct size and graft function in DCD rat hearts with extended WIT of 35 min.

Methods: Male rats were exposed to 35 min of warm ischemia followed by 90 min of reperfusion. During reperfusion, hearts were given either 0.5 mM of CyA, 10 mM of MDL, or mixed CyA and MDL. Cardiac function and coronary flow rates were monitored throughout reperfusion and infarct size at the end of reperfusion.

Results: Infarct size in hearts treated with mixed CyA + MDL (31.59 ± 7.1%) was less than that of MDL-treated hearts (33.26 ± 4.3%) but larger than CyA-treated hearts (25.49 ± 5.9%). Graft function and coronary flow rates were variable amongst groups. CyA-treated hearts had more profound infarct size reduction when compared to MDL, and no additional synergistic effect was seen with combination treatment.

Discussion: Our results indicate that MPTP opening contributes significantly to the development of IRI in DCD hearts.

介绍:两种主要途径有助于循环死亡(DCD)捐赠后缺血再灌注损伤(IRI):线粒体通透性过渡孔(MPTP)开放和Calpain-1 (CPN1)激活。每种途径都有确定的抑制剂;环孢素A (CyA)和MDL-28170 (MDL)分别可有效调节DCD心脏25 min热缺血时间(WIT)的IRI。我们研究了再灌注时同时给予CyA和MDL对延长WIT 35 min的DCD大鼠心肌梗死面积和移植物功能的影响。方法:雄性大鼠热缺血35 min,再灌注90 min。再灌注时,心脏分别给予0.5 mM CyA、10 mM MDL或CyA和MDL混合。在再灌注过程中监测心功能和冠状动脉血流率,在再灌注结束时监测梗死面积。结果:CyA + MDL混合治疗心肌梗死面积(31.59±7.1%)小于MDL治疗心肌梗死面积(33.26±4.3%),但大于CyA治疗心肌梗死面积(25.49±5.9%)。各组间移植物功能和冠状动脉血流率不同。与MDL相比,cya治疗的心脏有更深刻的梗死面积缩小,并且与联合治疗没有额外的协同作用。讨论:我们的研究结果表明,MPTP开放对DCD心脏IRI的发展有重要作用。
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引用次数: 0
Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk. 病例报告:厄瓜多尔患者mybpc3相关肥厚性心肌病的基因组和临床研究:对心源性猝死风险的影响
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-21 eCollection Date: 2025-01-01 DOI: 10.3389/fcvm.2025.1693244
Elius Paz-Cruz, Patricia Guevara-Ramírez, Rafael Tamayo-Trujillo, Viviana A Ruiz-Pozo, Santiago Cadena-Ullauri, Rita Ibarra-Castillo, José Luis Laso-Bayas, Leonel Meza-Chico, Alejandro Cabrera-Andrade, Ana Karina Zambrano

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a leading cause of sudden cardiac death (SCD) in young adults and athletes. It exhibits marked clinical variability, which may be influenced by genetic background and environmental factors. Although MYBPC3 is the most frequently implicated gene, data from Latin American and admixed populations remain scarce. In this study, we describe three unrelated Ecuadorian patients with clinically diagnosed HCM who harbored MYBPC3 variants. Two patients carried likely pathogenic mutations (p.Glu258Lys and p.His875Profs*8), while novel missense variants (p.Ala536Pro and p.Thr274Met) were identified as variants of uncertain significance (VUS). Additional variants were detected in TTN, MYLK2, RYR1, SDHA, APOB, and JPH2, but given their classification as VUS or a lack of association with HCM, they are described only as incidental findings. An ancestry analysis revealed heterogeneous contributions of Native American, European, and African backgrounds, reflecting the admixed composition of the Ecuadorian population. This case series underscores the phenotypic heterogeneity of HCM, even among patients with MYBPC3 variants, and highlights the importance of genomic testing in underrepresented populations to improve diagnosis, family screening, and SCD risk stratification.

肥厚性心肌病(HCM)是最常见的遗传性心脏病,也是年轻人和运动员心脏性猝死(SCD)的主要原因。它表现出明显的临床变异性,这可能受到遗传背景和环境因素的影响。尽管MYBPC3是最常见的相关基因,但来自拉丁美洲和混合人群的数据仍然很少。在这项研究中,我们描述了三名临床诊断为HCM的厄瓜多尔患者,他们携带MYBPC3变异。2例患者携带可能的致病突变(p.g ul258lys和p.h ys875profs *8),而新的错义变异(p.a ala536pro和p.s thr274met)被鉴定为不确定意义变异(VUS)。在TTN、MYLK2、RYR1、SDHA、APOB和JPH2中检测到其他变异,但鉴于它们被归类为VUS或与HCM缺乏关联,它们仅被描述为偶然发现。一项祖先分析揭示了美洲原住民、欧洲人和非洲人背景的异质贡献,反映了厄瓜多尔人口的混合组成。该病例系列强调了HCM的表型异质性,甚至在MYBPC3变异患者中也是如此,并强调了在代表性不足的人群中进行基因组检测以改善诊断、家庭筛查和SCD风险分层的重要性。
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引用次数: 0
Dual tachycardia in a premature infant: a rare case report and literature review. 早产儿双性心动过速1例罕见病例报告及文献复习。
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-21 eCollection Date: 2025-01-01 DOI: 10.3389/fcvm.2025.1712012
Meng Xu, Qingzhu Qiu, Chongbing Yan, Zhen Yan, Cuilan Hou, Tingting Xiao, Li Zhang

Objective: To enhance understanding of the diagnosis and management of dual tachycardia in infant.

Methods: A retrospective analysis was conducted on the clinical data and management of a infant with dual tachycardia. A review of the relevant literature was also performed.

Results: A female infant, born 43 min, was transferred to our hospital's NICU via emergency transfer due to "tachycardia lasting over half an hour after premature birth." To better understand the supraventricular tachycardia an esophageal electrode was inserted, the esophageal electrocardiogram confirmed the diagnosis of dual tachycardia (persistent atrial tachycardia combined with short episodes of ventricular tachycardia).

Conclusion: This case provides valuable insight into the diagnosis and management of dual tachycardia in infant. For patients presenting with tachycardia, esophageal electrocardiogram is crucial.

目的:提高对婴幼儿双性心动过速的诊断和处理的认识。方法:回顾性分析1例婴儿双性心动过速的临床资料及处理方法。对相关文献也进行了回顾。结果:1例女婴,出生43 min,因“早产后心动过速持续半小时以上”经急诊转至我院新生儿重症监护病房。为更好地了解室上性心动过速,经食管电极检查,食管心电图证实双速(持续性房性心动过速合并短时间室性心动过速)。结论:本病例对婴幼儿双性心动过速的诊断和治疗提供了有价值的见解。对于出现心动过速的患者,食管心电图是至关重要的。
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引用次数: 0
Outcomes of aortic valvuloplasty with pericardium patch for congenital aortic stenosis and regurgitation in pediatric patients. 心包补片主动脉瓣成形术治疗小儿先天性主动脉狭窄和反流的疗效。
IF 2.8 3区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2026-01-21 eCollection Date: 2025-01-01 DOI: 10.3389/fcvm.2025.1724329
Pinyan Huang, Junjie Zong, Weicong Ye, Song Wang, Ran Li, Han Zhang, Zilong Luo, Jiahong Xia, Jizhang Yu, Jie Wu, Cheng Zhou

Background: Surgical strategies for congenital aortic stenosis and regurgitation in children, particularly in infants (<1 year), remain controversial. Aortic valvuloplasty (AVP) with pericardial patch has gained increasing attention, but its durability and clinical benefits remain uncertain.

Methods: We retrospectively analyzed pediatric patients (≤12 years) undergoing AVP with pericardial patch in our center between July 2017 and July 2025. Infants (<1 year) were analyzed separately as subgroups. Primary outcome was the change in aortic valve hemodynamics, including median peak gradient, median peak velocity, and degree of aortic regurgitation. Secondary outcomes included major complications, overall survival, and freedom from reoperation.

Results: A total of 35 patients were included, with a median age of 2 years. Among them, 17 were infants, with a median age of 2 months. The median peak aortic valve gradient decreased from 67.0 mmHg to 33.0 mmHg (p < 0.001), and the median peak velocity decreased from 4.1 m/s to 2.9 m/s (p < 0.001), postoperatively. No new moderate or severe aortic regurgitation was observed early postoperatively, and preexisting lesions of this severity were resolved. There were no in-hospital deaths or severe complications. At four years, survival was 96% and freedom from reoperation 75.4% in the overall cohort; in infants, survival was 100% with 66.7% freedom from reoperation.

Conclusions: AVP with pericardium patch is a safe and effective procedure for congenital aortic stenosis and regurgitation in pediatric patients. It represents a promising surgical option for pediatric patients, including infants.

背景:儿童尤其是婴儿先天性主动脉瓣狭窄和反流的手术策略(方法:我们回顾性分析了2017年7月至2025年7月在本中心接受心包贴片AVP的儿童患者(≤12岁)。结果:共纳入35例患者,中位年龄为2岁。其中婴儿17例,中位年龄2个月。主动脉瓣梯度中位峰由67.0 mmHg降至33.0 mmHg (p p)。结论:AVP联合心包贴片治疗先天性主动脉瓣狭窄和反流是一种安全有效的治疗方法。对于包括婴儿在内的儿科患者来说,这是一种很有前途的手术选择。
{"title":"Outcomes of aortic valvuloplasty with pericardium patch for congenital aortic stenosis and regurgitation in pediatric patients.","authors":"Pinyan Huang, Junjie Zong, Weicong Ye, Song Wang, Ran Li, Han Zhang, Zilong Luo, Jiahong Xia, Jizhang Yu, Jie Wu, Cheng Zhou","doi":"10.3389/fcvm.2025.1724329","DOIUrl":"10.3389/fcvm.2025.1724329","url":null,"abstract":"<p><strong>Background: </strong>Surgical strategies for congenital aortic stenosis and regurgitation in children, particularly in infants (<1 year), remain controversial. Aortic valvuloplasty (AVP) with pericardial patch has gained increasing attention, but its durability and clinical benefits remain uncertain.</p><p><strong>Methods: </strong>We retrospectively analyzed pediatric patients (≤12 years) undergoing AVP with pericardial patch in our center between July 2017 and July 2025. Infants (<1 year) were analyzed separately as subgroups. Primary outcome was the change in aortic valve hemodynamics, including median peak gradient, median peak velocity, and degree of aortic regurgitation. Secondary outcomes included major complications, overall survival, and freedom from reoperation.</p><p><strong>Results: </strong>A total of 35 patients were included, with a median age of 2 years. Among them, 17 were infants, with a median age of 2 months. The median peak aortic valve gradient decreased from 67.0 mmHg to 33.0 mmHg (<i>p</i> < 0.001), and the median peak velocity decreased from 4.1 m/s to 2.9 m/s (<i>p</i> < 0.001), postoperatively. No new moderate or severe aortic regurgitation was observed early postoperatively, and preexisting lesions of this severity were resolved. There were no in-hospital deaths or severe complications. At four years, survival was 96% and freedom from reoperation 75.4% in the overall cohort; in infants, survival was 100% with 66.7% freedom from reoperation.</p><p><strong>Conclusions: </strong>AVP with pericardium patch is a safe and effective procedure for congenital aortic stenosis and regurgitation in pediatric patients. It represents a promising surgical option for pediatric patients, including infants.</p>","PeriodicalId":12414,"journal":{"name":"Frontiers in Cardiovascular Medicine","volume":"12 ","pages":"1724329"},"PeriodicalIF":2.8,"publicationDate":"2026-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12868139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146124434","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Frontiers in Cardiovascular Medicine
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