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Sudden cardiac death and the role of postmortem genetic testing in unexplained cases 心源性猝死和死后基因检测在不明原因病例中的作用
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.11.005
Deepthi Rajan , Tobias Skjelbred , Thomas Hadberg Lynge , Jacob Tfelt-Hansen
Sudden cardiac death (SCD) is accountable for 10–20 % of deaths in Europe. While inherited and acquired structural heart disease underlie a considerable proportion, many SCDs remain unexplained after conventional autopsy. Lack of structural cardiac abnormalities in sudden death points towards the possibility of inherited heart disease, yet to manifest in observable changes. In fact, 70 % of SCDs in the young are potentially inherited, and causes may be familial hypercholesterolemia, cardiomyopathies, and primary arrhythmias syndromes. Early diagnosis of occult hereditary conditions and initiation of tailored prevention is key in risk reduction of SCD in relatives of deceased individuals. Postmortem genetic testing is recommended in potential inherited causes of SCD, with novel data showing the technique enables detection of concealed cardiomyopathies and channelopathies. Yet widespread implementation is impeded by a number of challenges, including lack of awareness among clinicians of the value of postmortem genetics. Current guidelines from the European Society of Cardiology (ESC) and the American Heart Association (AHA) advise both post-mortem genetic testing of the SCD victim with a potential inherited cause of death and testing of first-degree relatives to prevent future SCDs. Furthermore, it is recommended that specialists interpret findings, and that family evaluation takes place in multidisciplinary collaboration between cardiologists, pathologists, geneticists, and counsellors. This review provides a summary of contemporary knowledge on SCD, outlines guidelines for general forensic management and use of post-mortem genetic testing – including its interpretation, advantages, and challenges - and finally describes standard procedures for investigations of relatives to the deceased individual.
心脏性猝死(SCD)占欧洲死亡人数的10-20%。虽然遗传性和获得性结构性心脏病占相当大的比例,但许多scd在常规尸检后仍无法解释。猝死中缺乏结构性心脏异常指向遗传性心脏病的可能性,但尚未表现为可观察到的变化。事实上,年轻人中70%的SCDs可能是遗传性的,其原因可能是家族性高胆固醇血症、心肌病和原发性心律失常综合征。早期诊断隐性遗传疾病和开始有针对性的预防是降低死亡个体亲属SCD风险的关键。死后基因检测被推荐用于潜在的SCD遗传原因,新数据显示该技术可以检测隐蔽性心肌病和通道病变。然而,广泛实施受到一些挑战的阻碍,包括临床医生对死后遗传学的价值缺乏认识。目前来自欧洲心脏病学会(ESC)和美国心脏协会(AHA)的指南建议对有潜在遗传死亡原因的SCD患者进行死后基因检测,并对一级亲属进行检测,以预防未来的SCD。此外,建议专家解释研究结果,家庭评估应在心脏病专家、病理学家、遗传学家和咨询师之间的多学科合作中进行。这篇综述概述了SCD的当代知识,概述了一般法医管理和使用尸检基因检测的指导方针-包括其解释,优点和挑战-最后描述了死者亲属调查的标准程序。
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引用次数: 0
Spontaneous Pacemaker Lead Screw Retraction: A Single-Center Case Series and Clinical Analysis 自发起搏器螺旋回缩:单中心病例系列和临床分析
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.12.007
S. Sharma , S. Bohora , Raghav Bansal
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引用次数: 0
Retracting PetAls againST the sEptum (Re-PASTE) technique for right inferior pulmonary vein pentaspline pulsed field ablation: A case report 右下肺静脉五顺线脉冲场消融术中瓣瓣对鼻中隔收缩术1例报告。
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.10.005
Yuhei Kasai , Takayuki Kitai , Junji Morita , Kazuhiro Satomi
Pulsed field ablation is a nonthermal ablation modality with favorable safety and efficacy profiles for pulmonary vein isolation in patients with atrial fibrillation. However, isolating the right inferior pulmonary vein can be technically challenging because of anatomical limitations and restricted catheter maneuverability. We report the case of a 47-year-old man with symptomatic, drug-refractory paroxysmal atrial fibrillation who underwent successful pulsed field ablation under general anesthesia using the FARAPULSE system. The Retracting the PetAls (in the flower configuration) againST the sEptum (Re-PASTE) technique was used in combination with radiopaque markers on the pentaspline FARAWAVE catheter and FARADRIVE sheath to facilitate accurate right inferior pulmonary vein access using fluoroscopic guidance alone. The Re-PASTE technique benefits from the design features of the pentaspline PFA catheter and sheath, such as their widths and lengths and their radiopaque markers, thereby enabling clear identification of the right–left atrial boundary and stable catheter positioning without spline deformation. The technique is simple, reproducible, and effective in addressing right inferior pulmonary vein anatomical challenges. The Re-PASTE technique may enhance procedural safety and efficiency, particularly in cases with difficult right inferior pulmonary vein anatomy, offering a practical solution to a common technical limitation in pulsed field ablation procedures.
脉冲场消融是一种用于心房颤动患者肺静脉隔离的非热消融方式,具有良好的安全性和有效性。然而,由于解剖结构的限制和导管可操作性的限制,隔离右下肺静脉在技术上具有挑战性。我们报告一例47岁男性有症状,药物难治性阵发性心房颤动,他在全身麻醉下使用FARAPULSE系统进行了成功的脉冲场消融。将花瓣(花朵形)对隔膜(Re-PASTE)技术与pentaspline FARAWAVE导管和FARADRIVE鞘上的透射线标记结合使用,以方便仅使用透视引导准确进入右下肺静脉。Re-PASTE技术得益于pentaspline PFA导管和护套的设计特点,如其宽度和长度以及不透射线标记,从而能够清晰地识别左右心房边界,稳定地定位导管,而不会发生样条变形。该技术简单,可重复性好,在解决右下肺静脉解剖难题方面效果显著。Re-PASTE技术可以提高手术安全性和效率,特别是在右下肺静脉解剖困难的情况下,为脉冲场消融手术中常见的技术限制提供了实用的解决方案。
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引用次数: 0
Right jugular access as the primary approach for leadless pacemaker implantation in a center without cardiac surgery 右颈静脉入路作为无导线心脏起搏器植入的主要途径。
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.11.008
Sem Briongos-Figuero, Álvaro Estévez-Paniagua, Ana Sánchez-Hernández, Roberto Muñoz-Aguilera

Background

Leadless pacemaker (LP) implantation via the right internal jugular vein (RIJV) may overcome limitations of the femoral approach, reducing vascular complications, and improving navigation across the tricuspid valve. This study aimed to explore the feasibility and safety of RIJV LP implantation in a center without cardiac surgery.

Methods

observational study of all patients undergoing RIJV LP implantation at an institution without cardiac surgery.

Results

Between April 2024 and June 2025, leadless pacemaker implantation via the RIJV was attempted in 34 patients, with a success rate of 85.3 % (n = 29). Implantation failed in five patients due to venous occlusion/stenosis (n = 4) or cardiac tamponade (n = 1). Among successful cases, fluoroscopy and procedure times averaged 7.3 ± 4.9 and 34.9 ± 13.7 minutes, respectively. Most implants (75.8 %) required a single deployment and were placed in the mid-septal area. No major access-related complications occurred. A learning curve was evident, with significant reduction in procedure time across tertiles. No significant differences were found in deployment attempts or final device position among tertiles.

Conclusions

The right jugular approach is feasible and safe, potentially expanding LP implantation among centers without cardiac surgery, though vascular assessment is crucial for patient selection.
背景:通过右颈内静脉(RIJV)植入无铅起搏器(LP)可以克服股入路的局限性,减少血管并发症,并改善三尖瓣的导航。本研究旨在探讨RIJV LP在非心脏手术中心植入的可行性和安全性。方法:观察性研究所有在非心脏手术机构接受RIJV LP植入的患者。结果:在2024年4月至2025年6月期间,34例患者尝试通过RIJV进行无导线起搏器植入,成功率为85.3% (n=29)。5例患者因静脉闭塞/狭窄(n=4)或心脏填塞(n=1)导致植入失败。在成功病例中,透视和手术时间平均分别为7.3±4.9和34.9±13.7分钟。大多数植入物(75.8%)需要单次部署并放置在中隔区域。未发生重大通路相关并发症。学习曲线是明显的,显著减少了处理时间。在部署尝试或最终装置的位置之间没有发现显着差异。结论:右颈静脉入路是可行和安全的,可以在不需要心脏手术的情况下扩大中心间的LP植入,尽管血管评估对患者选择至关重要。
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引用次数: 0
Cavotricuspid Isthmus Anatomy: Clinical Implications for Cardiac Ablation 三尖瓣峡解剖:心脏消融的临床意义
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.12.005
A. Patel, H. Oza, B. Doshi
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引用次数: 0
Parameters predicting symptoms related to ventricular premature complexes. 预测室性过早复合体相关症状的参数。
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.12.008
V. Mishra, A.H. Ansari, A. Jain, A. Gupta
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引用次数: 0
Clinical utility of cardiac MRI at initial evaluation in the diagnosis and management of non-ischemic cardiomyopathies: A prospective cohort study 心脏MRI在非缺血性心肌病诊断和治疗的初步评估中的临床应用:一项前瞻性队列研究
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.12.009
M.H. Nimisha , N.K. Ramya Das MD , A. Anoop , V. Jineesh , Rehna C. Mohamed , Jyothi Vijay , Sai Kiran Karkala , Arun Gopalakrishnan , S.P. Abhilash , Narayanan Namboodiri
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引用次数: 0
A case of left bundle branch block, prematurely interrupted 左束分支阻塞过早中断的案例。
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.11.009
Rakesh Latchamsetty, Fred Morady
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引用次数: 0
Initial experience with implant of Aveir VR and DR leadless pacemakers in Spain. New insights about battery longevity 西班牙Aveir VR和DR无铅起搏器植入的初步经验。关于电池寿命的新见解。
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.10.007
D. Pérez Díez , I. Mosquera Pérez
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引用次数: 0
Left subclavian access for pentaspline pulsed field ablation system: A feasible option in bilateral femoral vein thrombosis 左锁骨下通道的Pentaspline脉冲场消融系统:双侧股静脉血栓的可行选择。
Q3 Medicine Pub Date : 2025-11-01 DOI: 10.1016/j.ipej.2025.11.007
Vincenzo Schillaci , Assunta Di Costanzo , Armando Salito , Francesco Solimene

Background

Standard femoral venous access may not be feasible in patients with inferior vena cava (IVC) obstruction or bilateral deep vein thrombosis (DVT), necessitating alternative venous routes.

Case summary

We report the case of a 73-year-old man with paroxysmal AF, antithrombin III deficiency, and chronic bilateral femoral and iliac vein thrombosis. After a failed prior attempt at PVI due to inaccessible femoral veins, a left subclavian approach was selected based on favorable ultrasound imaging. Under deep sedation, subclavian venous access was obtained and a Pentaspline PFA system (FaraWave™) was used via a steerable sheath. Transseptal puncture was performed using the VersaCross™ RF pigtail system under fluoroscopic and transesophageal echocardiographic guidance. Ablation was successfully delivered to all pulmonary veins, including a left common trunk, using standard electroporation protocols. Total procedure time was 117 minutes. No complications occurred, and the patient was discharged the following day in stable condition.

Conclusion

This case demonstrates the technical feasibility and safety of using the Pentaspline PFA system via left subclavian venous access in a patient with extensive lower extremity venous thrombosis. The approach enabled successful PVI in a complex clinical scenario where traditional femoral access was precluded. While alternative access routes for PFA are rarely reported, this case expands the potential use of superior venous access and may serve as a reference for similar high-risk patients. Such procedures should be reserved for experienced centers with advanced imaging and transseptal expertise.
背景:对于下腔静脉(IVC)阻塞或双侧深静脉血栓形成(DVT)的患者,标准的股静脉通路可能不可行,需要其他静脉通路。病例总结:我们报告一例73岁男性阵发性房颤,抗凝血酶III缺乏,慢性双侧股髂静脉血栓形成。由于股静脉无法进入,先前的PVI尝试失败后,基于有利的超声成像选择了左侧锁骨下入路。在深度镇静下,获得锁骨下静脉通路,并通过可操纵鞘使用Pentaspline PFA系统(FaraWave™)。在透视和经食管超声心动图引导下,使用VersaCross™RF pigtail系统进行经间隔穿刺。使用标准电穿孔方案成功消融所有肺静脉,包括左主干。手术总时间为117分钟。无并发症发生,患者于次日出院,病情稳定。结论:本病例证明了经左锁骨下静脉通道应用Pentaspline PFA系统治疗下肢广泛静脉血栓患者的技术可行性和安全性。该入路在复杂的临床情况下成功实现了PVI,传统的股骨入路被排除。虽然PFA的其他通路很少报道,但本病例扩大了上静脉通路的潜在应用,并可作为类似高危患者的参考。这样的手术应该留给有经验的中心,有先进的成像和跨隔专业知识。
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Indian Pacing and Electrophysiology Journal
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