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Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation 需要植入起搏器的年轻成年人中的罕见基因变异。
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-10-01 DOI: 10.1016/j.jacep.2024.05.008
Juan Pablo Ochoa MD, PhD , Maria Ángeles Espinosa MD, PhD , Jara Gayan-Ordas MD , Andrea Fernández-Valledor MD , María Gallego-Delgado MD, PhD , Coloma Tirón MD , Adrián Lozano-Ibañez MD , José Manuel García-Pinilla MD, PhD , José F. Rodríguez-Palomares MD, PhD , José María Larrañaga-Moreira MD , Helena Llamas-Gómez MD , Tomas Ripoll-Vera MD, PhD , Aitana Braza-Boïls PhD , Silvia Vilches MD , Irene Méndez MD , Ramón Bascompte-Claret MD , Ana García-Álvarez MD, PhD , Eduardo Villacorta MD, PhD , Ignacio Fernandez-Lozano MD, PhD , Enrique Lara-Pezzi PhD , Pablo Garcia-Pavia MD, PhD

Background

Genetic disease has recently emerged as a cause of cardiac conduction disorders (CCDs), but the diagnostic yield of genetic testing and the contribution of the different genes to CCD is still unsettled.

Objectives

This study sought to determine the diagnostic yield of genetic testing in young adults with CCD of unknown etiology requiring pacemaker implantation. We also studied the prevalence of rare protein-altering variants across individual genes and functional gene groups.

Methods

We performed whole exome sequencing in 150 patients with CCD of unknown etiology who had permanent pacemaker implanted at age ≤60 years at 14 Spanish hospitals. Prevalence of rare protein-altering variants in patients with CCD was compared with a reference population of 115,522 individuals from gnomAD database (control subjects).

Results

Among 39 prioritized genes, patients with CCD had more rare protein-altering variants than control subjects (OR: 2.39; 95% CI: 1.75-3.33). Significant enrichment of rare variants in patients with CCD was observed in all functional gene groups except in the desmosomal genes group. Rare variants in the nuclear envelope genes group exhibited the strongest association with CCD (OR: 6.77; 95% CI: 3.71-13.87). Of note, rare variants in sarcomeric genes were also enriched (OR: 1.73; 95% CI: 1.05-3.10). An actionable genetic variant was detected in 21 patients (14%), with LMNA being the most frequently involved gene (4.6%).

Conclusions

Unrecognized rare genetic variants increase the risk of CCD in young adults with CCD of unknown etiology. Genetic testing should be performed in patients age ≤60 years with CCD of unknown etiology. The role of genetic variants in sarcomeric genes as a cause of CCD should be further investigated.
背景:近来,遗传病已成为心脏传导障碍(CCD)的病因之一,但基因检测的诊断率以及不同基因对CCD的影响仍未确定:本研究旨在确定需要植入起搏器的病因不明的 CCD 年轻成人的基因检测诊断率。我们还研究了单个基因和功能基因组中罕见的改变蛋白质的变体的发生率:我们对 150 名病因不明的 CCD 患者进行了全外显子组测序,这些患者在年龄小于 60 岁时在西班牙 14 家医院植入了永久性心脏起搏器。我们将 CCD 患者中罕见的蛋白质改变变体的发生率与 gnomAD 数据库中的 115,522 个参照人群(对照组)进行了比较:在 39 个优先基因中,CCD 患者的罕见蛋白质改变变异多于对照受试者(OR:2.39;95% CI:1.75-3.33)。除脱膜体基因组外,在所有功能基因组中都观察到了CCD患者罕见变异的显著富集。核包膜基因组中的罕见变异与CCD的关联性最强(OR:6.77;95% CI:3.71-13.87)。值得注意的是,肉瘤基因中的罕见变异也有富集(OR:1.73;95% CI:1.05-3.10)。21名患者(14%)检测到了可操作的基因变异,其中LMNA是最常涉及的基因(4.6%):结论:未被发现的罕见基因变异会增加病因不明的年轻成人罹患 CCD 的风险。对于年龄小于60岁、病因不明的CCD患者,应进行基因检测。应进一步研究肉瘤基因中的遗传变异在 CCD 病因中的作用。
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引用次数: 0
Autonomic Dysfunction and PVC-Mediated Cardiomyopathy 自律神经功能失调与聚氯乙烯介导的心肌病
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-10-01 DOI: 10.1016/j.jacep.2024.06.023
Varun Malik BMedSci, MBBS, PhD, Olujimi A. Ajijola MD, PhD
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引用次数: 0
Left Bundle Branch Area Pacing for LBBB 左束支区起搏治疗 LBBB:左室间隔起搏有用吗?
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-10-01 DOI: 10.1016/j.jacep.2024.06.024
Daniel J. Friedman MD , Mihail G. Chelu MD, PhD
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引用次数: 0
Transient Atrioventricular Conduction Disturbance During Vein of Marshall Alcohol Ablation 马歇尔静脉酒精消融过程中的短暂房室传导障碍
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-10-01 DOI: 10.1016/j.jacep.2024.07.001
James K. Gabriels MD, Lenard Grayver BS, Stuart Beldner MD
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引用次数: 0
Predicting Clinical Success After Cardioneural Ablation for Syncope: Time to Get Into the Weeds. 预测心肌消融术治疗晕厥的临床成功率:是时候进入杂草丛生的地方了
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-30 DOI: 10.1016/j.jacep.2024.09.011
Gaurav A Upadhyay
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引用次数: 0
Tachycardia Termination Without Global Propagation: A Stimulating Experience. 心动过速终止,无全球传播:令人振奋的体验
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-30 DOI: 10.1016/j.jacep.2024.09.013
John M Miller, Tanyanan Tanawuttiwat, Nektarios Vasilottos
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引用次数: 0
Coronary Sinus Isolation for High-Burden Atrial Fibrillation: A Randomized Clinical Trial. 冠状窦隔离治疗高负担心房颤动:随机临床试验
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-29 DOI: 10.1016/j.jacep.2024.09.017
Jonathan P Ariyaratnam, Melissa E Middeldorp, Anthony G Brooks, Gijo Thomas, Kadhim Kadhim, Rajiv Mahajan, Rajeev K Pathak, Glenn D Young, Jonathan M Kalman, Prashanthan Sanders

Background: The coronary sinus is an arrhythmogenic structure that can initiate and maintain atrial fibrillation (AF). Coronary sinus ablation has been shown to be effective in prolonging the AF cycle length and terminating AF in patients with both paroxysmal and persistent AF who have persistent AF after pulmonary vein isolation (PVI).

Objectives: The objective of this study was to undertake a randomized controlled trial to investigate the efficacy of coronary sinus isolation (CSI) as an adjunctive ablation strategy for the treatment of high-burden AF.

Methods: Consecutive patients presenting with symptomatic long episodes of paroxysmal AF (≥48 h but ≤7 days) or persistent AF (>7 days and ≤12 months) referred for first-time ablation were enrolled. Participants were randomized to either PVI, roofline ablation, and CSI (CSI group) or PVI and roofline ablation only (non-CSI group). Participants were assessed postprocedurally via clinical follow-up and 7-day Holter monitoring at regular intervals. The primary outcome was single-procedure drug-free atrial arrhythmia-free survival at 2 years.

Results: One hundred participants were recruited to the study; 48 were randomized to the CSI group and 52 to the non-CSI group. Acutely successful CSI was achieved in 45 of the 48 patients in the CSI group. At 2 years follow up, 30 of 48 patients (62.5%) in the CSI group and 33 of 52 (63.4%) in the non-CSI group were free from arrhythmia recurrence. Single-procedure drug-free survival at 2 years was no different between groups (P = 0.91). Similarly, multiple procedure drug assisted survival at 5 years was not different between groups (P = 0.80). Complication rates were not significantly different between groups (P = 0.19).

Conclusions: Adjunctive CSI as part of a de novo ablation strategy does not confer any additional benefit greater than PVI and roofline for the treatment of high-burden AF.

背景:冠状窦是一种心律失常的致病结构,可引发和维持心房颤动(房颤)。冠状窦消融术已被证明能有效延长阵发性和持续性房颤患者的房颤周期长度并终止房颤,这些患者在肺静脉隔离术(PVI)后仍有持续性房颤:本研究旨在开展一项随机对照试验,探讨冠状窦隔离术(CSI)作为辅助消融策略治疗高负担房颤的疗效:首次消融术的患者均为有症状的阵发性房颤长期发作(≥48小时但≤7天)或持续性房颤(>7天且≤12个月)转诊患者。参与者被随机分为 PVI、屋顶线消融和 CSI 组(CSI 组)或仅 PVI 和屋顶线消融组(非 CSI 组)。术后通过临床随访和 7 天 Holter 定期监测对参与者进行评估。主要结果是2年内无房性心律失常的单次手术无药物生存率:研究招募了 100 名参与者,其中 48 人被随机分配到 CSI 组,52 人被随机分配到非 CSI 组。CSI组的48名患者中有45人成功进行了CSI。在 2 年的随访中,CSI 组 48 名患者中有 30 名(62.5%)和非 CSI 组 52 名患者中有 33 名(63.4%)没有再发心律失常。各组 2 年的单次手术无药物生存率无差异(P = 0.91)。同样,多例手术药物辅助下的 5 年生存率在组间也无差异(P = 0.80)。各组间的并发症发生率无明显差异(P = 0.19):结论:在治疗高负担房颤时,作为从头消融策略一部分的辅助 CSI 不会带来比 PVI 和 roofline 更大的额外益处。
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引用次数: 0
Emergence of SCAI in Patients With Tetralogy of Fallot: Early Ablation Target or Moving Target. 法洛氏四联症患者出现 SCAI:早期消融目标还是移动目标?
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-28 DOI: 10.1016/j.jacep.2024.09.012
Richard J Czosek, Shankar Baskar, Chad E Connor
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引用次数: 0
Persistent Atrial Fibrillation Phenotypes and Ablation Outcomes: Persistent From Outset vs Progression From Paroxysmal AF. 持续性心房颤动表型与消融结果:持续性心房颤动与阵发性心房颤动的进展。
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-27 DOI: 10.1016/j.jacep.2024.09.018
Rose Crowley, David Chieng, Louise Segan, Jeremy William, Hariharan Sugumar, Sandeep Prabhu, Aleksandr Voskoboinik, Liang-Han Ling, Joseph B Morton, Geoffrey Lee, Alex J McLellan, Michael Wong, Rajeev K Pathak, Laurence Sterns, Matthew Ginks, Prashanthan Sanders, Peter M Kistler, Jonathan M Kalman

Background: Many patients with persistent atrial fibrillation (PsAF) have progressed from an initial paroxysmal phenotype; however, there are patients in whom atrial fibrillation (AF) is persistent at diagnosis. Relatively little is known about this subgroup, but prior observational studies have suggested these patients have worse outcomes with ablation.

Objectives: This study sought to: 1) assess demographic and electrophysiologic characteristics of patients with PsAF at first diagnosis compared with those with who have progressed from paroxysmal atrial fibrillation (PAF); and 2) assess the impact of pattern of AF at diagnosis on recurrence post ablation.

Methods: CAPLA (Catheter Ablation for persistent atrial fibrillation: A Multicentre randomised trial of Pulmonary vein isolation [PVI] vs PVI with posterior Left Atrial wall isolation [PWI]) was a multicenter trial that randomized patients with PsAF to PVI plus PWI or PVI alone. Follow-up was 12 months. Outcomes were assessed after a 3-month blanking period.

Results: A total of 334 patients were included (median age 65.6 years, 23.1% female), 194 (58.1%) had PsAF at first AF diagnosis and 140 (41.9%) had PAF. Patients with PsAF at diagnosis were younger (age 64.0 vs 67.7 years, P = 0.005), had higher rates of heart failure (P < 0.001), and lower left ventricular ejection fraction (54.5% IQR: 40-60 vs 60% IQR: 50-61, P = 0.007). AF recurrence occurred in 85 (43.8%) with PsAF at diagnosis and 70 (50%) with PAF at diagnosis. PsAF at diagnosis was not associated with risk of recurrence on univariable (HR: 0.802; 95% CI: 0.585-1.101; P = 0.173) or multivariable analysis (HR: 0.922; 95% CI: 0.647-1.312; P = 0.650). Median AF burden was 0% in both groups (P = 0.125). There was no difference in left atrial size (P = 0.337) or bipolar voltage (P = 0.579) between the groups.

Conclusions: In the CAPLA cohort of patients, pattern of AF at first diagnosis did not influence post-ablation rate of AF recurrence or AF burden. (Catheter Ablation for persistent atrial fibrillation: A Multicentre randomised trial of Pulmonary vein isolation [PVI] vs PVI with posterior Left Atrial wall isolation [PWI]; ACTRN12616001436460).

背景:许多持续性心房颤动(PsAF)患者都是从最初的阵发性表型发展而来;然而,也有一些患者在诊断时心房颤动(AF)就是持续性的。对这一亚群的了解相对较少,但之前的观察性研究表明,这些患者的消融治疗效果较差:本研究旨在目的:本研究旨在:1)评估与阵发性心房颤动(PAF)进展期患者相比,首次诊断为阵发性心房颤动(PsAF)患者的人口统计学和电生理学特征;2)评估诊断时的心房颤动模式对消融术后复发的影响:CAPLA(针对持续性心房颤动的导管消融术:方法:CAPLA(针对持续性房颤的导管消融:肺静脉隔离[PVI] vs PVI与左心房后壁隔离[PWI]的多中心随机试验)是一项多中心试验,将PsAF患者随机分为PVI加PWI或单纯PVI。随访时间为 12 个月。结果:共纳入 334 名患者(中位年龄 65.6 岁,23.1% 为女性),其中 194 人(58.1%)在首次诊断房颤时患有 PsAF,140 人(41.9%)患有 PAF。诊断时患有 PsAF 的患者更年轻(64.0 岁 vs 67.7 岁,P = 0.005),心衰发生率更高(P < 0.001),左室射血分数更低(54.5% IQR:40-60 vs 60% IQR:50-61,P = 0.007)。85例(43.8%)诊断时为PsAF,70例(50%)诊断时为PAF的患者出现房颤复发。诊断时的 PsAF 与单变量分析(HR:0.802;95% CI:0.585-1.101;P = 0.173)或多变量分析(HR:0.922;95% CI:0.647-1.312;P = 0.650)的复发风险无关。两组的中位房颤负荷均为 0%(P = 0.125)。两组患者的左心房大小(P = 0.337)或双极电压(P = 0.579)没有差异:结论:在 CAPLA 患者队列中,首次诊断时的房颤模式不会影响消融后的房颤复发率或房颤负荷。(持续性房颤的导管消融术:肺静脉隔离[PVI]与左心房后壁隔离[PWI]的多中心随机试验;ACTRN12616001436460)。
{"title":"Persistent Atrial Fibrillation Phenotypes and Ablation Outcomes: Persistent From Outset vs Progression From Paroxysmal AF.","authors":"Rose Crowley, David Chieng, Louise Segan, Jeremy William, Hariharan Sugumar, Sandeep Prabhu, Aleksandr Voskoboinik, Liang-Han Ling, Joseph B Morton, Geoffrey Lee, Alex J McLellan, Michael Wong, Rajeev K Pathak, Laurence Sterns, Matthew Ginks, Prashanthan Sanders, Peter M Kistler, Jonathan M Kalman","doi":"10.1016/j.jacep.2024.09.018","DOIUrl":"https://doi.org/10.1016/j.jacep.2024.09.018","url":null,"abstract":"<p><strong>Background: </strong>Many patients with persistent atrial fibrillation (PsAF) have progressed from an initial paroxysmal phenotype; however, there are patients in whom atrial fibrillation (AF) is persistent at diagnosis. Relatively little is known about this subgroup, but prior observational studies have suggested these patients have worse outcomes with ablation.</p><p><strong>Objectives: </strong>This study sought to: 1) assess demographic and electrophysiologic characteristics of patients with PsAF at first diagnosis compared with those with who have progressed from paroxysmal atrial fibrillation (PAF); and 2) assess the impact of pattern of AF at diagnosis on recurrence post ablation.</p><p><strong>Methods: </strong>CAPLA (Catheter Ablation for persistent atrial fibrillation: A Multicentre randomised trial of Pulmonary vein isolation [PVI] vs PVI with posterior Left Atrial wall isolation [PWI]) was a multicenter trial that randomized patients with PsAF to PVI plus PWI or PVI alone. Follow-up was 12 months. Outcomes were assessed after a 3-month blanking period.</p><p><strong>Results: </strong>A total of 334 patients were included (median age 65.6 years, 23.1% female), 194 (58.1%) had PsAF at first AF diagnosis and 140 (41.9%) had PAF. Patients with PsAF at diagnosis were younger (age 64.0 vs 67.7 years, P = 0.005), had higher rates of heart failure (P < 0.001), and lower left ventricular ejection fraction (54.5% IQR: 40-60 vs 60% IQR: 50-61, P = 0.007). AF recurrence occurred in 85 (43.8%) with PsAF at diagnosis and 70 (50%) with PAF at diagnosis. PsAF at diagnosis was not associated with risk of recurrence on univariable (HR: 0.802; 95% CI: 0.585-1.101; P = 0.173) or multivariable analysis (HR: 0.922; 95% CI: 0.647-1.312; P = 0.650). Median AF burden was 0% in both groups (P = 0.125). There was no difference in left atrial size (P = 0.337) or bipolar voltage (P = 0.579) between the groups.</p><p><strong>Conclusions: </strong>In the CAPLA cohort of patients, pattern of AF at first diagnosis did not influence post-ablation rate of AF recurrence or AF burden. (Catheter Ablation for persistent atrial fibrillation: A Multicentre randomised trial of Pulmonary vein isolation [PVI] vs PVI with posterior Left Atrial wall isolation [PWI]; ACTRN12616001436460).</p>","PeriodicalId":14573,"journal":{"name":"JACC. Clinical electrophysiology","volume":" ","pages":""},"PeriodicalIF":8.0,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142500588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Clinical Characteristics and Outcomes in Patients With Atrial Fibrillation and Pathogenic TTN Variants. 心房颤动和致病性 TTN 变异患者的临床特征和预后。
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-09-27 DOI: 10.1016/j.jacep.2024.07.029
Zain M Virk, Majd A El-Harasis, Zachary T Yoneda, Katherine C Anderson, Lili Sun, Joseph A Quintana, Brittany S Murphy, James L Laws, Giovanni E Davogustto, Matthew J O'Neill, Bibin T Varghese, Diane M Crawford, Hollie L Williams, Mahsima Shabani, Cassady J Pelphrey, Dakota D Grauherr, Kelsey Tomasek, Yan Ru Su, Megan C Lancaster, Quinn S Wells, Jeffrey M Dendy, Pablo Saavedra, Juan C Estrada, Travis D Richardson, Sharon T Shen, Arvindh N Kanagasundram, Jay A Montgomery, Christopher R Ellis, George H Crossley, Harikrishna Tandri, Prince J Kannankeril, Steven A Lubitz, William G Stevenson, Fei Ye, Patrick T Ellinor, Lynne W Stevenson, Dan M Roden, M Benjamin Shoemaker

Background: TTN encodes a sarcomeric protein called titin. Pathogenic rare variants in TTN are the most common finding in patients with atrial fibrillation (AF) and positive genetic testing.

Objectives: This study sought to define the characteristics and outcomes in patients with AF and pathogenic TTN variants compared with genotype-negative patients with AF.

Methods: Patients who presented initially with AF were enrolled in an AF registry. Retrospectively they underwent research sequencing for cardiomyopathy and arrhythmia genes. TTN(+) AF cases were defined as participants with pathogenic or likely pathogenic (P/LP) rare variants located in exons with high cardiac expression. They were matched 1:2 with control subjects with no P/LP variants. Phenotyping used retrospective manual chart review.

Results: Among 2794 participants; 57 (2.0%) TTN(+) AF cases were identified and matched with 114 control subjects. Low QRS complex voltage was present more often in TTN(+) AF cases (18% vs 5%; P < 0.01), with no difference in PR, QRS interval, or QTc. More TTN(+) AF cases had persistent AF at enrollment (44% vs 30%; P = 0.028) and had undergone multiple cardioversions (61% vs. 37%; P < 0.01). By end of follow-up (median 8.3 years; Q1, Q3: 4.5, 13.7 years), 11% of TTN(+) AF cases developed sustained ventricular tachycardia/ventricular fibrillation, 44% left ventricular (LV) systolic dysfunction (LV ejection fraction <50%), and 47% met a combined endpoint of sustained ventricular tachycardia/ventricular fibrillation or LV systolic dysfunction.

Conclusions: TTN(+) AF patients undergo more cardioversions and have more persistent forms of AF. Approximately 50% develop LV systolic dysfunction and/or malignant ventricular arrhythmias. These results highlight the need for diagnostic evaluation and management in TTN(+) patients beyond the usual care for AF.

背景TTN 编码一种称为 titin 的肉瘤蛋白。TTN的罕见致病变体是心房颤动(AF)患者和基因检测阳性患者最常见的发现:本研究旨在确定与基因型阴性的心房颤动患者相比,心房颤动和致病性 TTN 变异患者的特征和预后:方法:最初出现房颤的患者被纳入房颤登记册。回顾性地对他们进行了心肌病和心律失常基因的研究测序。TTN(+)房颤病例被定义为具有致病性或可能致病性(P/LP)罕见变异的参与者,这些变异位于心脏高表达的外显子中。他们与无P/LP变异的对照组受试者进行1:2配对。表型分析采用回顾性人工病历审查:在 2794 名参与者中,发现了 57 例(2.0%)TTN(+)房颤病例,并与 114 名对照组受试者进行了配对。TTN(+)房颤病例更常出现低 QRS 波群电压(18% vs 5%;P < 0.01),PR、QRS 间期或 QTc 无差异。更多的 TTN(+)房颤病例在入组时为持续性房颤(44% 对 30%;P = 0.028),并接受过多次心脏复律(61% 对 37%;P < 0.01)。随访结束时(中位 8.3 年;Q1、Q3:4.5、13.7 年),11% 的 TTN(+)房颤病例出现持续室速/室颤,44% 出现左室收缩功能障碍(左室射血分数结论):TTN(+)房颤患者接受的心脏复律次数更多,房颤的持续形式也更多。约 50% 的患者会出现左心室收缩功能障碍和/或恶性室性心律失常。这些结果突出表明,除了对房颤患者进行常规治疗外,还需要对 TTN(+)患者进行诊断评估和管理。
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引用次数: 0
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JACC. Clinical electrophysiology
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