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Impact of Catheter Ablation of Electrical Storm on Survival 导管消融电风暴对存活率的影响:倾向评分匹配分析。
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-10-01 DOI: 10.1016/j.jacep.2024.05.032

Background

Electrical storm (ES) is a life-threatening condition, associated with substantial early and subacute mortality. Catheter ablation (CA) is a well-established therapy for ES. However, data regarding the impact of CA on the short-term and midterm survival of patients admitted for ES remain unclear.

Objectives

This multicenter study aimed to investigate the impact of CA of ES on survival outcomes, while accounting for key patient characteristics associated with treatment selection.

Methods

A propensity score–matching (PSM) analysis was performed on 780 consecutive patients admitted for ES in 4 tertiary centers. PSM (1:1) based on the main characteristics associated with the use of CA or medical therapy alone was performed, resulting in 2 groups of 288 patients.

Results

After PSM, patients who underwent CA (n = 288) and those treated with medical therapy alone (n = 288) did not present any significant differences in the main demographic characteristics, ES presentation, and management. Compared with medical therapy alone, CA was associated with a significantly lower rate of ES recurrence at 1 year (5% vs 26%; P < 0.001). Similarly, CA was associated with a higher 1-year (91% vs 81%; P < 0.001) and 3-year (78% vs 71%; P = 0.017) survival after discharge. In subgroup analyses, effect of ablation therapy remained consistent in patients older than 70 years of age (HR: 0.39; 95% CI: 0.24-0.66), with substantial efficacy in patients with a LVEF <35% (HR: 0.39; 95% CI: 0.27-0.59).

Conclusions

In propensity-matched analyses, this large study shows that CA-based management of patients admitted for ES is associated with a reduction in mortality compared with medical treatment, particularly in patients with a low ejection fraction.
背景:电风暴(ES)是一种危及生命的疾病,与早期和亚急性期的高死亡率有关。导管消融术(CA)是治疗 ES 的一种行之有效的疗法。然而,有关导管消融对因 ES 而入院的患者短期和中期存活率影响的数据仍不清楚:这项多中心研究旨在调查 ES CA 对生存结果的影响,同时考虑与治疗选择相关的主要患者特征:方法:对4个三级中心连续收治的780名ES患者进行倾向评分匹配(PSM)分析。根据与使用 CA 或单纯药物治疗相关的主要特征进行倾向评分匹配(1:1),得出 2 组共 288 名患者:结果:经过PSM分析,接受CA治疗的患者(288人)和单纯接受药物治疗的患者(288人)在主要人口统计学特征、ES表现和治疗方法上没有明显差异。与单纯药物治疗相比,接受 CA 治疗的患者 1 年后 ES 复发率明显降低(5% vs 26%; P < 0.001)。同样,CA 与较高的出院后 1 年生存率(91% vs 81%;P < 0.001)和 3 年生存率(78% vs 71%;P = 0.017)相关。在亚组分析中,消融治疗对 70 岁以上患者的疗效保持一致(HR:0.39;95% CI:0.24-0.66),对 LVEF 结论的患者疗效显著:在倾向匹配分析中,这项大型研究表明,与药物治疗相比,对因 ES 入院的患者进行基于 CA 的治疗可降低死亡率,尤其是射血分数较低的患者。
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引用次数: 0
Smoking Cessation and Incident Atrial Fibrillation in a Longitudinal Cohort 纵向队列中的戒烟与心房颤动发病率
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-10-01 DOI: 10.1016/j.jacep.2024.06.019

Background

Although smoking heightens the risk of AF, it remains unknown if that risk is amenable to modification after smoking cessation.

Objectives

This study sought to evaluate the association between smoking cessation and atrial fibrillation (AF) risk in a large longitudinal cohort.

Methods

After excluding those with prevalent AF and no history of smoking at baseline, we evaluated 146,772 UK Biobank participants with serial smoking assessments. We compared AF risk between former smokers at baseline and those who quit smoking during the study to current smokers. Incident AF was ascertained from outpatient and inpatient encounters and identified using International Classification of Diseases codes. Cox models were used to compare the risk of incident AF among current and former smokers as well as those who quit smoking during the study while controlling for age, sex, race, body mass index, education, cardiovascular comorbidities, alcohol use, and pack-years.

Results

Among the 146,772 participants (48.3% female; age: 57.3 ± 7.9 years), 37,377 (25.5%) currently smoked; 105,429 (72.0%) were former smokers; and 3,966 (2.7%) quit smoking during the study. Over a mean 12.7 ± 2.0 years of follow-up, 11,214 (7.6%) participants developed AF. Compared to current smokers, the adjusted risk of AF was 13% lower in former smokers (HR: 0.87; 95% CI: 0.83-0.91) and 18% lower in those who quit smoking during the study (HR: 0.82; 95% CI: 0.70-0.95).

Conclusions

Compared to those who continue to smoke, smoking cessation was associated with a lower risk of AF.
背景虽然吸烟会增加心房颤动的风险,但戒烟后这一风险是否会发生改变仍是未知数。目的本研究试图在一个大型纵向队列中评估戒烟与心房颤动(AF)风险之间的关系。方法在排除了那些心房颤动流行且基线时无吸烟史的人群后,我们对 146,772 名英国生物库参与者进行了连续吸烟评估。我们比较了基线时曾经吸烟者和研究期间戒烟者与当前吸烟者的房颤风险。心房颤动事件通过门诊和住院病例确定,并使用国际疾病分类代码进行识别。在控制年龄、性别、种族、体重指数、教育程度、心血管并发症、饮酒和吸烟包年的情况下,使用 Cox 模型比较现吸烟者、曾吸烟者和研究期间戒烟者发生房颤的风险。结果在 146,772 名参与者(48.3% 为女性;年龄:57.3 ± 7.9 岁)中,37,377 人(25.5%)目前吸烟;105,429 人(72.0%)曾经吸烟;3,966 人(2.7%)在研究期间戒烟。在平均 12.7 ± 2.0 年的随访期间,11214 名参与者(7.6%)患上了房颤。与当前吸烟者相比,曾经吸烟者发生房颤的调整后风险降低了 13%(HR:0.87;95% CI:0.83-0.91),而在研究期间戒烟者发生房颤的风险降低了 18%(HR:0.82;95% CI:0.70-0.95)。
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引用次数: 0
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

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
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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
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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
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引用次数: 0
Imaging to Facilitate Ventricular Tachycardia Ablation 促进室性心动过速消融的成像技术:心内超声心动图、计算机断层扫描、磁共振和正电子发射断层扫描。
IF 8 1区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-10-01 DOI: 10.1016/j.jacep.2024.08.003
Catheter ablation is a well-established and effective strategy for the management of ventricular tachycardia (VT). However, the identification and characterization of arrhythmogenic substrates for targeted ablation remain challenging. Electrogram abnormalities and responses to pacing during VT provide the classical and most validated methods to identify substrates. However, the 3-dimensional nature of the myocardium, nonconductive tissue, and heterogeneous strands of conductive tissue at the border zones or through the nonconductive zones can prohibit easy electrical sampling and identification of the tissue critical to VT. Intracardiac echocardiography is critical for identification of anatomy, examination of catheter approach and contact, assessment of tissue changes during ablation, and even potential substrates as echogenic regions, but lacks specificity with regard to the latter compared with advanced modalities. In recent decades, cardiac magnetic resonance, computed tomography and positron emission tomography have emerged as valuable tools in the periprocedural evaluation of VT ablation. Cardiac magnetic resonance has unparalleled soft tissue and temporal resolution and excels at identification of expanded interstitial space caused by myocardial infarction, fibrosis, inflammation, or infiltrative myopathies. Computed tomography has excellent spatial resolution and is optimal for identification of anatomic variabilities including wall thickness, thrombus, and lipomatous metaplasia. Positron emission tomography excels at identification of substrates including amyloidosis, sarcoidosis, and other inflammatory substrates. These imaging modalities are vital for assessing arrhythmogenic substrates, guiding optimal access strategy, and assessing ablation efficacy. Although clearly beneficial in specific settings, further clinical trials are needed to enhance generalizability and optimize integration of cardiac imaging for VT ablation.
导管消融是治疗室性心动过速(VT)的一种行之有效的策略。然而,如何识别和鉴定用于定向消融的致心律失常基质仍是一项挑战。VT 时的电图异常和起搏反应是识别基质的经典且最有效的方法。然而,心肌的三维特性、非传导性组织以及边界区或穿过非传导区的异质传导性组织,都会使电取样和识别对 VT 至关重要的组织变得不容易。心内超声心动图对于确定解剖结构、检查导管的进路和接触、评估消融过程中的组织变化,甚至是作为回声区域的潜在基质都至关重要,但与先进的模式相比,后者缺乏特异性。近几十年来,心脏磁共振、计算机断层扫描和正电子发射断层扫描已成为 VT 消融术围术期评估的重要工具。心脏磁共振具有无与伦比的软组织和时间分辨率,擅长识别由心肌梗死、纤维化、炎症或浸润性肌病引起的间隙扩大。计算机断层扫描具有出色的空间分辨率,最适合识别解剖变异,包括心肌壁厚度、血栓和脂肪瘤变。正电子发射断层扫描擅长鉴别基质,包括淀粉样变性、肉样瘤病和其他炎症基质。这些成像模式对于评估心律失常基质、指导最佳入路策略和评估消融疗效至关重要。虽然在特定情况下显然是有益的,但仍需要进一步的临床试验来提高可推广性并优化心脏成像在 VT 消融中的整合。
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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
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)。
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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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JACC. Clinical electrophysiology
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