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Computational in silico genetic variant prediction tools in cardiovascular disease 心血管疾病的计算机遗传变异预测工具
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-08-21 DOI: 10.1111/anec.13079
Lydia D. Hellwig PhD, ScM, CGC, Joaquin Villar PhD, FACMG, Clesson Turner MD
<p>Clinical genetic testing for hereditary cardiovascular diseases is recommended by many cardiovascular groups (Musunuru et al., <span>2020</span>; Wilde et al., <span>2022</span>). Genetic test results can be important for patient medical management and for the care for family members (Cirino et al., <span>2017</span>). Appropriate classification of genetic variants is a critical component of this process and ultimately impacts patient and family outcomes (Care et al., <span>2017</span>; Phillips et al., <span>2005</span>). The American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) created recommendations for the classification of pathogenicity of variants in genes associated with monogenic disease (Richards et al., <span>2015</span>). These recommendations include defining the criteria for evidence used in classification as well as providing a framework for weighing and combining different types of evidence for the classification. Despite this standardized approach to interpretation, analysis and appropriate classification of variants remain challenging across disease contexts in clinical genetics (McInnes et al., <span>2021</span>).</p><p>In this issue of <i>Annals of Noninvasive Electrocardiology</i>, Younis et al. (<span>2023</span>) report that computational genetic variant prediction tools could identify the majority of pathogenic variants in congenital long QT syndrome (LQTS) 1–3. The authors also found that the computational scores did not predict clinical outcomes.</p><p>While it is encouraging that the variant prediction tools correlated with pathogenicity in this study, it is also important to note that determination of variant pathogenicity includes multiple types of evidence, including variant prediction evidence. Importantly, computational in silico predictors alone should not be used to classify the pathogenicity of a variant, but can be used as one piece of evidence in the classification of a genetic variant. The ACMG/AMP recommendations specify that using computational predictors are “supporting” level of evidence for or against pathogenicity using criteria PP3 and BP4 (Care et al., <span>2017</span>). Supporting-level evidence must be combined with other more substantial lines of evidence to classify the variant. Furthermore, a recent manuscript by Pejaver et al. (<span>2022</span>) provided evidence for redefining how computational tools can be used to provide evidence for or against pathogenicity of variants using the Bayesian adaptation of the ACMG/AMP framework. This work showed that the tools can provide stronger than supporting evidence and the computational tools varied in their ability to reach these levels of evidence. These authors also pointed out that it is important to select a single tool to use for PP3/BP4 missense evidence to avoid biases in results selection.</p><p>In addition, although the terms continue to be used interchangeably in the literature, recently,
遗传性心血管疾病的临床基因检测被许多心血管群体推荐(Musunuru等人,2020;Wilde et al., 2022)。基因检测结果对于患者的医疗管理和家庭成员的护理可能很重要(Cirino等人,2017)。遗传变异的适当分类是这一过程的关键组成部分,并最终影响患者和家庭的结果(Care等人,2017;Phillips et al., 2005)。美国医学遗传学和基因组学学院和分子病理学协会(ACMG/AMP)为单基因疾病相关基因变异的致病性分类提出了建议(Richards等,2015)。这些建议包括确定用于分类的证据标准,以及为衡量和组合不同类型的分类证据提供一个框架。尽管有这种标准化的解释方法,但在临床遗传学的疾病背景下,变异的分析和适当分类仍然具有挑战性(McInnes等人,2021)。在这一期的《无创心电学年鉴》中,Younis等人(2023)报道,计算遗传变异预测工具可以识别先天性长QT综合征(LQTS)的大多数致病变异1-3。作者还发现,计算分数并不能预测临床结果。虽然本研究中变异预测工具与致病性相关是令人鼓舞的,但同样重要的是要注意,变异致病性的确定包括多种类型的证据,包括变异预测证据。重要的是,计算机计算机预测不应该单独用于分类变异的致病性,但可以用作遗传变异分类的一个证据。ACMG/AMP的建议明确指出,使用计算预测指标可以“支持”使用标准PP3和BP4支持或反对致病性的证据水平(Care等人,2017年)。支持级证据必须与其他更实质性的证据相结合,才能对变体进行分类。此外,Pejaver等人(2022)最近发表的一篇论文为重新定义计算工具如何使用ACMG/AMP框架的贝叶斯适应性来提供支持或反对变异致病性的证据提供了证据。这项工作表明,这些工具可以提供比支持性证据更有力的证据,而计算工具在达到这些证据水平的能力上各不相同。这些作者还指出,选择单一工具用于PP3/BP4错义证据以避免结果选择中的偏差是很重要的。此外,尽管这两个术语在文献中仍然可以互换使用,但最近,临床遗传学和基因组学界已经开始区分变体分类和变体解释这两个术语之间的差异。变异分类被定义为评估变异致病性的过程,而变异解释是指将基因检测结果与患者临床特征和家族史结合起来进行临床诊断的过程(Biesecker et al., 2018)。这些细微差别在该领域具有挑战性,在未来的临床基因组工作中,仔细定义和清楚地使用这些术语将继续是重要的。Younis等人(2023)还发现计算机计算机工具不能预测临床结果,并得出结论,需要进行变异位置/功能分析才能更准确地解释风险。在变异分类过程之外,计算机计算机工具的潜在用途,例如使用这些工具作为临床严重程度的指标,还不太清楚。准确评估LQTS和其他遗传性心血管疾病的风险解释仍然具有挑战性,因为可变的表达性和不完全外显性(Lankaputhra &Voskoboinik, 2021)。除了额外的位置/功能数据可能有助于澄清相关基因中具有致病性和可能致病性变异的个体之间的风险分层外,还可以使用进一步的基于人群和基因型优先的方法来进一步评估与变异解释相关的这些复杂问题(Wilczewski等人,2023)。所有作者(LDH、JV和CT)都参与了稿件的构思/解读、起草或修改,并对所提交的稿件提供最终批复。作者没有需要披露的利益冲突。这里表达的观点和主张是作者的观点和主张,并不反映卫生科学军警大学或国防部的官方政策或立场。这里的观点和主张是作者的观点和主张,并不反映亨利·M·史密斯的官方政策或立场。 杰克逊军事医学发展基金会或美国国家卫生研究院。
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引用次数: 0
The diagnostic utility of the basal and post-exercise QRS-T angle in patients with stable coronary artery disease 基础和运动后QRS-T角在稳定型冠状动脉疾病患者中的诊断价值
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-08-11 DOI: 10.1111/anec.13082
Tufan Günay MD, Alper Karakus MD

Background

To evaluate the diagnostic utility of basal and post-exercise QRS-T angle in patients with stable coronary artery disease (CAD).

Methods

This cross-sectional and observational study analyzed 190 patients with stable angina. The QRS-T angle is measured on the 12-lead electrocardiograms at baseline and just after stopping the treadmill stress test in patients undergoing conventional coronary angiography (CAG). The pre- and post-exercise QRS-T angle and ΔQRS-T angle were analyzed.

Results

Of the 190 patients, 66 (34.7%) were assigned to group 1 (patients with coronary lesion) and 124 (65.3%) to group 2 (patients without coronary lesion) after CAG. There was no statistically significant difference in QRS-T angle between groups at baseline (pre-exercise) (30.7 ± 17 vs. 27.8 ± 12.8, p = .233). The QRS-T angle value was significantly higher in group 1 than in group 2 (68.8 ± 40.3 vs. 22.7 ± 21.5, p = .01) after exercise (post-exercise). The ΔQRS-T angle was also significantly higher in group 1 than in group 2 (38.1 ± 37.6 vs. −5.1 ± 22.9, p = .01). Receiver operating characteristic curve revealed that the cut-off value of QRS-T angle (post-exercise) for the coronary obstruction was >51.5° with 81% of sensitivity and 66% of specificity (AUC: 0.832, p = .001, CI: 0.769–0.894). Duke treadmill score for coronary stenosis was >1.5 with 77% of sensitivity and 69% of specificity (AUC: 0.814, p = .001, CI: 0.749–0.878).

Conclusion

It could be proposed that post-exercise QRS-T angle and Δ QRS-T angle are significantly associated with coronary obstruction in patients with stable angina and appear to be more sensitive than the Duke treadmill score and traditional electrocardiographic parameters.

背景评价基础和运动后QRS-T角对稳定型冠状动脉疾病(CAD)患者的诊断价值。方法对190例稳定型心绞痛患者进行横断面观察分析。在接受常规冠状动脉造影(CAG)的患者中,QRS-T角是在基线和停止跑步机压力测试后在12导联心电图上测量的。分析运动前后QRS-T角及Δ。结果在190例患者中,66例(34.7%)在CAG后分为第一组(有冠状动脉病变的患者),124例(65.3%)分为第二组(无冠状动脉病变患者)。在基线(运动前),各组之间的QRS-T角度没有统计学上的显著差异(30.7 ± 17对27.8 ± 12.8,p = .233)。QRS-T角度值在第1组中显著高于第2组(68.8 ± 40.3对22.7 ± 21.5,p = .01)运动后(运动后)。ΔQRS-T角在第1组中也显著高于第2组(38.1 ± 37.6对-5.1 ± 22.9,p = .01)。受试者操作特征曲线显示,冠状动脉阻塞的QRS-T角(运动后)的截止值>;51.5°,灵敏度81%,特异性66%(AUC:0.832,p = .001,CI:0.769–0.894)。Duke跑步机冠状动脉狭窄评分>;1.5,灵敏度77%,特异性69%(AUC:0.814,p = .001,CI:0.749–0.878)。结论运动后QRS-T角和ΔQRS-T角度与稳定型心绞痛患者的冠状动脉阻塞显著相关,并且似乎比Duke跑步机评分和传统心电图参数更敏感。
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引用次数: 0
Genetic variant annotation scores in congenital long QT syndrome 先天性长QT综合征的遗传变异注释评分
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-08-11 DOI: 10.1111/anec.13080
Arwa Younis MD, Christopher Bodurian BA, Dan E. Arking PhD, Nicola Luigi Bragazzi MD, PhD, MPH, Chadi Tabaja MD, Wojciech Zareba MD, PhD, Scott McNitt MS, Mehmet K. Aktas MD, MBA, Bronislava Polonsky MS, Coeli M. Lopes PhD, Nona Sotoodehnia MD, Peter J. Kudenchuk MD, Ilan Goldenberg MD

Background

Congenital Long QT Syndrome (LQTS) is a hereditary arrhythmic disorder. We aimed to assess the performance of current genetic variant annotation scores among LQTS patients and their predictive impact.

Methods

We evaluated 2025 patients with unique mutations for LQT1–LQT3. A patient-specific score was calculated for each of four established genetic variant annotation algorithms: CADD, SIFT, REVEL, and PolyPhen-2. The scores were tested for the identification of LQTS and their predictive performance for cardiac events (CE) and life-threatening events (LTE) and then compared with the predictive performance of LQTS categorization based on mutation location/function. Score performance was tested using Harrell's C-index.

Results

A total of 917 subjects were classified as LQT1, 838 as LQT2, and 270 as LQT3. The identification of a pathogenic variant occurred in 99% with CADD, 92% with SIFT, 100% with REVEL, and 86% with PolyPhen-2. However, none of the genetic scores correlated with the risk of CE (Harrell's C-index: CADD = 0.50, SIFT = 0.51, REVEL = 0.50, and PolyPhen-2 = 0.52) or LTE (Harrell's C-index: CADD = 0.50, SIFT = 0.53, REVEL = 0.54, and PolyPhen-2 = 0.52). In contrast, high-risk mutation categorization based on location/function was a powerful independent predictor of CE (HR = 1.88; p < .001) and LTE (HR = 1.89, p < .001).

Conclusion

In congenital LQTS patients, well-established algorithms (CADD, SIFT, REVEL, and PolyPhen-2) were able to identify the majority of the causal variants as pathogenic. However, the scores did not predict clinical outcomes. These results indicate that mutation location/functional assays are essential for accurate interpretation of the risk associated with LQTS mutations.

背景先天性长QT综合征是一种遗传性心律失常。我们的目的是评估当前遗传变异注释评分在LQTS患者中的表现及其预测影响。方法我们评估了2025例LQT1-LQT3独特突变的患者。计算四种已建立的遗传变异注释算法(CADD、SIFT、REVEL和polyphen2)的患者特异性评分。测试了LQTS的识别及其对心脏事件(CE)和危及生命事件(LTE)的预测性能,然后与基于突变位置/功能的LQTS分类的预测性能进行了比较。分数表现采用哈勒尔c指数进行测试。结果LQT1组917例,LQT2组838例,LQT3组270例。CADD的致病性变异检出率为99%,SIFT的检出率为92%,REVEL的检出率为100%,polyphen2的检出率为86%。然而,没有一个遗传评分与CE (Harrell's C-index: CADD = 0.50, SIFT = 0.51, REVEL = 0.50, polyphen2 = 0.52)或LTE (Harrell's C-index: CADD = 0.50, SIFT = 0.53, REVEL = 0.54, polyphen2 = 0.52)的风险相关。相比之下,基于位置/功能的高危突变分类是CE的一个强大的独立预测因子(HR = 1.88;p < .001)和LTE (HR = 1.89, p < .001)。结论在先天性LQTS患者中,完善的算法(CADD, SIFT, REVEL和polyphen2)能够识别大多数致病变异。然而,分数并不能预测临床结果。这些结果表明,突变定位/功能分析对于准确解释与LQTS突变相关的风险至关重要。
{"title":"Genetic variant annotation scores in congenital long QT syndrome","authors":"Arwa Younis MD,&nbsp;Christopher Bodurian BA,&nbsp;Dan E. Arking PhD,&nbsp;Nicola Luigi Bragazzi MD, PhD, MPH,&nbsp;Chadi Tabaja MD,&nbsp;Wojciech Zareba MD, PhD,&nbsp;Scott McNitt MS,&nbsp;Mehmet K. Aktas MD, MBA,&nbsp;Bronislava Polonsky MS,&nbsp;Coeli M. Lopes PhD,&nbsp;Nona Sotoodehnia MD,&nbsp;Peter J. Kudenchuk MD,&nbsp;Ilan Goldenberg MD","doi":"10.1111/anec.13080","DOIUrl":"10.1111/anec.13080","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital Long QT Syndrome (LQTS) is a hereditary arrhythmic disorder. We aimed to assess the performance of current genetic variant annotation scores among LQTS patients and their predictive impact.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We evaluated 2025 patients with unique mutations for LQT1–LQT3. A patient-specific score was calculated for each of four established genetic variant annotation algorithms: CADD, SIFT, REVEL, and PolyPhen-2. The scores were tested for the identification of LQTS and their predictive performance for cardiac events (CE) and life-threatening events (LTE) and then compared with the predictive performance of LQTS categorization based on mutation location/function. Score performance was tested using Harrell's C-index.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 917 subjects were classified as LQT1, 838 as LQT2, and 270 as LQT3. The identification of a pathogenic variant occurred in 99% with CADD, 92% with SIFT, 100% with REVEL, and 86% with PolyPhen-2. However, none of the genetic scores correlated with the risk of CE (Harrell's C-index: CADD = 0.50, SIFT = 0.51, REVEL = 0.50, and PolyPhen-2 = 0.52) or LTE (Harrell's C-index: CADD = 0.50, SIFT = 0.53, REVEL = 0.54, and PolyPhen-2 = 0.52). In contrast, high-risk mutation categorization based on location/function was a powerful independent predictor of CE (HR = 1.88; <i>p</i> &lt; .001) and LTE (HR = 1.89, <i>p</i> &lt; .001).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In congenital LQTS patients, well-established algorithms (CADD, SIFT, REVEL, and PolyPhen-2) were able to identify the majority of the causal variants as pathogenic. However, the scores did not predict clinical outcomes. These results indicate that mutation location/functional assays are essential for accurate interpretation of the risk associated with LQTS mutations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8074,"journal":{"name":"Annals of Noninvasive Electrocardiology","volume":"28 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2023-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b9/ad/ANEC-28-e13080.PMC10475886.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10157178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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: 1
Association of silent myocardial infarction on electrocardiogram and coronary artery calcium: The Multi-Ethnic Study of Atherosclerosis 无症状心肌梗死心电图与冠状动脉钙化的关系:动脉粥样硬化的多民族研究
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-08-08 DOI: 10.1111/anec.13081
Richard Kazibwe MD, MSc, Matthew J. Singleton MD, MBE, MHS, MSc, Charles A. German MD, MSc, Elsayed Z. Soliman MD, MSc, MS, Gregory L. Burke MD, MS, Joseph Yeboah MD, MSc

Background

Silent myocardial infarction (SMI) on electrocardiogram (ECG) is associated with atherosclerotic cardiovascular disease, but the relationship between SMI on ECG and coronary artery calcium (CAC) remains poorly understood.

Objective

Characterize the relationship between SMI on ECG and CAC.

Methods

Eligible participants from the Multi-Ethnic Study of Atherosclerosis study had ECG and CAC scoring at study enrollment (2000–2002). SMI was defined as ECG evidence of myocardial infarction in the absence of a history of clinical cardiovascular disease. CAC was modeled both continuously and categorically. The cross-sectional relationships between SMI on ECG and CAC were assessed using logistic regression and linear regression.

Results

Among 6705 eligible participants, 178 (2.7%) had baseline SMI. Compared to participants without SMI, those with SMI had higher CAC (median [IQR]: 61.2 [0–261.7] vs. 0 [0–81.5]; p < .0001). Participants with SMI were more likely to have non-zero CAC (74% vs. 49%) and were more likely to have CAC ≥ 100 (40% vs. 23%). In a multivariable-adjusted logistic model, SMI was associated with higher odds of non-zero CAC (odds ratio 2.17, 95% CI 1.48–3.20, p < .0001) and 51% higher odds of CAC ≥ 100 (odds ratio 1.51, 95% CI 1.06–2.16, p = .02).

Conclusion

An incidental finding of SMI on ECG may serve to identify patients who have a higher odds of significant CAC and may benefit from additional risk stratification to further refine their cardiovascular risk. Further exploration of the utility of CAC assessment in this patient population is needed.

背景:心电图无症状性心肌梗死(SMI)与动脉粥样硬化性心血管疾病相关,但SMI与冠状动脉钙(CAC)之间的关系尚不清楚。目的探讨心电SMI与CAC的关系。方法来自多民族动脉粥样硬化研究的合格参与者在研究入组时(2000-2002年)有ECG和CAC评分。SMI被定义为没有临床心血管疾病史的心肌梗死的心电图证据。对CAC进行连续建模和分类建模。采用logistic回归和线性回归评估心电图SMI与CAC的横断面关系。结果在6705名符合条件的参与者中,178名(2.7%)患有基线重度精神障碍。与非重度精神分裂症患者相比,重度精神分裂症患者的CAC更高(中位数[IQR]: 61.2 [0 - 261.7] vs. 0 [0 - 81.5];p < .0001)。重度精神障碍患者的CAC不为零的可能性更大(74%对49%),CAC≥100的可能性更大(40%对23%)。在多变量调整的logistic模型中,SMI与非零CAC的高概率相关(比值比2.17,95% CI 1.48-3.20, p < 0.0001),与CAC≥100的高概率相关(比值比1.51,95% CI 1.06-2.16, p = 0.02)。结论:在ECG上偶然发现的SMI可能有助于识别具有显著CAC的较高几率的患者,并可能受益于额外的风险分层,以进一步细化其心血管风险。需要进一步探索CAC评估在这一患者群体中的效用。
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引用次数: 1
Predicting stroke and mortality in mitral stenosis with atrial flutter: A machine learning approach 预测二尖瓣狭窄伴心房扑动的卒中和死亡率:一种机器学习方法
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-08-06 DOI: 10.1111/anec.13078
Amer Rauf MBBS, Asif Ullah MBBS, Usha Rathi MBBS, Zainab Ashfaq MBBS, Hidayat Ullah MBBS, Amna Ashraf MBBS, Jateesh Kumar MBBS, Maria Faraz MS, Waheed Akhtar MBBS, Amin Mehmoodi MD, Jahanzeb Malik MBBS

Background

Our study hypothesized that an intelligent gradient boosting machine (GBM) model can predict cerebrovascular events and all-cause mortality in mitral stenosis (MS) with atrial flutter (AFL) by recognizing comorbidities, electrocardiographic and echocardiographic parameters.

Methods

The machine learning model was used as a statistical analyzer in recognizing the key risk factors and high-risk features with either outcome of cerebrovascular events or mortality.

Results

A total of 2184 patients with their chart data and imaging studies were included and the GBM analysis demonstrated mitral valve area (MVA), right ventricular systolic pressure, pulmonary artery pressure (PAP), left ventricular ejection fraction (LVEF), New York Heart Association (NYHA) class, and surgery as the most significant predictors of transient ischemic attack (TIA/stroke). MVA, PAP, LVEF, creatinine, hemoglobin, and diastolic blood pressure were predictors for all-cause mortality.

Conclusion

The GBM model assimilates clinical data from all diagnostic modalities and significantly improves risk prediction performance and identification of key variables for the outcome of MS with AFL.

本研究假设智能梯度增强机(GBM)模型可以通过识别二尖瓣狭窄(MS)合并心房扑动(AFL)的合并症、心电图和超声心动图参数,预测脑血管事件和全因死亡率。方法利用机器学习模型作为统计分析工具,识别脑血管事件结局或死亡的关键危险因素和高危特征。结果共纳入2184例患者,包括他们的图表数据和影像学研究,GBM分析显示二尖瓣面积(MVA)、右心室收缩压、肺动脉压(PAP)、左心室射血分数(LVEF)、纽约心脏协会(NYHA)分级和手术是短暂性脑缺血发作(TIA/卒中)最重要的预测因素。MVA、PAP、LVEF、肌酐、血红蛋白和舒张压是全因死亡率的预测因子。结论GBM模型吸收了所有诊断方式的临床数据,显著提高了MS合并AFL预后的风险预测性能和关键变量的识别。
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引用次数: 0
Deep learning-mediated prediction of concealed accessory pathway based on sinus rhythmic electrocardiograms 基于窦性心律心电图的隐伏副通路深度学习预测
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-08-02 DOI: 10.1111/anec.13072
Lei Wang PhD, Fang Yang MD, Xiao-Jing Bao MD, Xiao-Ping Bo MD, Shipeng Dang MD, PhD, Ru-Xing Wang MD, PhD, Feng Pan PhD

Background

Concealed accessory pathway (AP) may cause atrial ventricular reentrant tachycardia impacting the health of patients. However, it is asymptomatic and undetectable during sinus rhythm.

Methods

To detect concealed AP with electrocardiography (ECG) images, we collected normal sinus rhythmic ECG images of concealed AP patients and healthy subjects. All ECG images were randomly allocated to the training and testing datasets, and were used to train and test six popular convolutional neural networks from ImageNet pre-training and random initialization, respectively.

Results

We screened 152 ECG recordings in concealed AP group and 600 ECG recordings in control group. There were no statistically significant differences in ECG characteristics between control group and concealed AP group in terms of PR interval and QRS interval. However, the QT interval and QTc were slightly higher in control group than in concealed AP group. In the testing set, ResNet26, SE-ResNet50, MobileNetV3_large_100, and DenseNet169 achieved a sensitivity rate more than 87.0% with a specificity rate above 98.0%. And models trained from random initialization showed similar performance and convergence with models trained from ImageNet pre-training.

Conclusion

Our study suggests that deep learning could be an effective way to predict concealed AP with normal sinus rhythmic ECG images. And our results might encourage people to rethink the possibility of training from random initialization on ECG image tasks.

背景隐蔽性副通路(AP)可引起心房室室重入性心动过速,影响患者的健康。然而,它是无症状的,在窦性心律期间无法检测到。方法收集隐匿性AP患者和健康人的正常窦性心律心电图图像,用心电图检测隐匿性AP。将所有心电图像随机分配到训练和测试数据集中,分别对ImageNet预训练和随机初始化的6种常用卷积神经网络进行训练和测试。结果隐匿AP组152例,对照组600例。对照组与隐伏AP组在PR间期、QRS间期的心电图特征差异无统计学意义。对照组QT间期和QTc略高于隐蔽性AP组。在测试集中,ResNet26、SE-ResNet50、MobileNetV3_large_100、DenseNet169的敏感性大于87.0%,特异性大于98.0%。随机初始化训练的模型与ImageNet预训练的模型表现出相似的性能和收敛性。结论深度学习可作为一种有效的方法预测窦性心律失常的隐伏性心电。我们的结果可能会鼓励人们重新思考从随机初始化训练的可能性。
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引用次数: 0
Design and characteristics of the prophylactic intra-operative ventricular arrhythmia ablation in high-risk LVAD candidates (PIVATAL) trial 高危LVAD患者术中预防性室性心律失常消融(PIVATAL)试验的设计与特点
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-07-28 DOI: 10.1111/anec.13073
David T. Huang MD, Igor Gosev MD, PhD, Katherine L. Wood MD, Hima Vidula MD, William Stevenson MD, Frank Marchlinski MD, Gregory Supple MD, Sandip K. Zalawadiya MD, J. Peter Weiss MD, Roderick Tung MD, Wendy S. Tzou MD, Joshua D. Moss MD, Krishna Kancharla MD, Sunit-Preet Chaudhry MD, Parin J. Patel MD, Arfaat M. Khan MD, Claudio Schuger MD, Guy Rozen MD, Michael S. Kiernan MD, Gregory S. Couper MD, Marzia Leacche MD, Ezequiel J. Molina MD, Anand D. Shah MD, Michael Lloyd MD, Jakub Sroubek MD, PhD, Edward Soltesz MD, Kalyanam Shivkumar MD, PhD, Casey White MD, Sinan Tankut MD, Brent A. Johnson PhD, Scott McNitt MS, Valentina Kutyifa MD, PhD, Wojciech Zareba MD, PhD, Ilan Goldenberg MD

Background

The use of a Left Ventricular Assist Device (LVAD) in patients with advanced heart failure refractory to optimal medical management has progressed steadily over the past two decades. Data have demonstrated reduced LVAD efficacy, worse clinical outcome, and higher mortality for patients who experience significant ventricular tachyarrhythmia (VTA). We hypothesize that a novel prophylactic intra-operative VTA ablation protocol at the time of LVAD implantation may reduce the recurrent VTA and adverse events postimplant.

Methods

We designed a prospective, multicenter, open-label, randomized-controlled clinical trial enrolling 100 patients who are LVAD candidates with a history of VTA in the previous 5 years. Enrolled patients will be randomized in a 1:1 fashion to intra-operative VTA ablation (n = 50) versus conventional medical management (n = 50) with LVAD implant. Arrhythmia outcomes data will be captured by an implantable cardioverter defibrillator (ICD) to monitor VTA events, with a uniform ICD programming protocol. Patients will be followed prospectively over a mean of 18 months (with a minimum of 9 months) after LVAD implantation to evaluate recurrent VTA, adverse events, and procedural outcomes. Secondary endpoints include right heart function/hemodynamics, healthcare utilization, and quality of life.

Conclusion

The primary aim of this first-ever randomized trial is to assess the efficacy of intra-operative ablation during LVAD surgery in reducing VTA recurrence and improving clinical outcomes for patients with a history of VTA.

背景在过去的二十年中,左心室辅助装置(LVAD)在难治性晚期心力衰竭患者中的应用稳步发展。数据显示,LVAD疗效降低,临床结果更差,出现明显室性心动过速(VTA)的患者死亡率更高。我们假设,在LVAD植入时,一种新的预防性术中VTA消融方案可能会减少复发的VTA和植入后的不良事件。方法我们设计了一项前瞻性、多中心、开放标签、随机对照的临床试验,纳入了100例LVAD候选患者,这些患者在过去5年内有VTA病史。入选的患者将以1:1的比例随机分为术中VTA消融组(n = 50)和植入LVAD的传统医疗管理组(n = 50)。心律失常结果数据将由植入式心律转复除颤器(ICD)捕获,以监测VTA事件,并采用统一的ICD编程协议。患者将在LVAD植入后平均随访18个月(至少9个月),以评估复发性VTA、不良事件和手术结果。次要终点包括右心功能/血流动力学、医疗保健利用和生活质量。这项首次随机试验的主要目的是评估LVAD手术期间术中消融在减少VTA复发和改善有VTA病史患者临床预后方面的疗效。
{"title":"Design and characteristics of the prophylactic intra-operative ventricular arrhythmia ablation in high-risk LVAD candidates (PIVATAL) trial","authors":"David T. Huang MD,&nbsp;Igor Gosev MD, PhD,&nbsp;Katherine L. Wood MD,&nbsp;Hima Vidula MD,&nbsp;William Stevenson MD,&nbsp;Frank Marchlinski MD,&nbsp;Gregory Supple MD,&nbsp;Sandip K. Zalawadiya MD,&nbsp;J. Peter Weiss MD,&nbsp;Roderick Tung MD,&nbsp;Wendy S. Tzou MD,&nbsp;Joshua D. Moss MD,&nbsp;Krishna Kancharla MD,&nbsp;Sunit-Preet Chaudhry MD,&nbsp;Parin J. Patel MD,&nbsp;Arfaat M. Khan MD,&nbsp;Claudio Schuger MD,&nbsp;Guy Rozen MD,&nbsp;Michael S. Kiernan MD,&nbsp;Gregory S. Couper MD,&nbsp;Marzia Leacche MD,&nbsp;Ezequiel J. Molina MD,&nbsp;Anand D. Shah MD,&nbsp;Michael Lloyd MD,&nbsp;Jakub Sroubek MD, PhD,&nbsp;Edward Soltesz MD,&nbsp;Kalyanam Shivkumar MD, PhD,&nbsp;Casey White MD,&nbsp;Sinan Tankut MD,&nbsp;Brent A. Johnson PhD,&nbsp;Scott McNitt MS,&nbsp;Valentina Kutyifa MD, PhD,&nbsp;Wojciech Zareba MD, PhD,&nbsp;Ilan Goldenberg MD","doi":"10.1111/anec.13073","DOIUrl":"10.1111/anec.13073","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The use of a Left Ventricular Assist Device (LVAD) in patients with advanced heart failure refractory to optimal medical management has progressed steadily over the past two decades. Data have demonstrated reduced LVAD efficacy, worse clinical outcome, and higher mortality for patients who experience significant ventricular tachyarrhythmia (VTA). We hypothesize that a novel prophylactic intra-operative VTA ablation protocol at the time of LVAD implantation may reduce the recurrent VTA and adverse events postimplant.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We designed a prospective, multicenter, open-label, randomized-controlled clinical trial enrolling 100 patients who are LVAD candidates with a history of VTA in the previous 5 years. Enrolled patients will be randomized in a 1:1 fashion to intra-operative VTA ablation (<i>n</i> = 50) versus conventional medical management (<i>n</i> = 50) with LVAD implant. Arrhythmia outcomes data will be captured by an implantable cardioverter defibrillator (ICD) to monitor VTA events, with a uniform ICD programming protocol. Patients will be followed prospectively over a mean of 18 months (with a minimum of 9 months) after LVAD implantation to evaluate recurrent VTA, adverse events, and procedural outcomes. Secondary endpoints include right heart function/hemodynamics, healthcare utilization, and quality of life.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The primary aim of this first-ever randomized trial is to assess the efficacy of intra-operative ablation during LVAD surgery in reducing VTA recurrence and improving clinical outcomes for patients with a history of VTA.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8074,"journal":{"name":"Annals of Noninvasive Electrocardiology","volume":"28 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/39/ac/ANEC-28-e13073.PMC10475893.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10161420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
A method for noninvasive beat-by-beat visualization of His bundle signals 一种无创的His束信号逐拍可视化方法
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-07-26 DOI: 10.1111/anec.13076
S. Sengottuvel ME, S. Shenbaga Devi PhD, M. Sasikala PhD, S. Satheesh DM, R. J. Selvaraj MD

Background

Invasive recording of His bundle signals (HBS) in electrophysiological study (EPS) is important in determining HV interval, the time taken to activate the ventricles from the His bundle. Noninvasive surface measurements of HBS are attempted by averaging typically 100–200 cardiac cycles of ECG time series in body surface potential mapping (BSPM) and in magnetocardiography (MCG) which records weak cardiac magnetic fields by highly sensitive detectors. However, noninvasive beat-by-beat extraction of HBS is challenged by ramp-like atrial signals and noise in PR segment of the cardiac cycle.

Methods

By making use of a signal-averaged trace showing prominent HBS as a guide trace, we developed a method combining interval-dependent wavelet thresholding (IDWT) and signal space projection (SSP) technique to eliminate artifacts from single beats. The method was applied on MCG recorded on 21 subjects with known HV intervals based on EPS and noninvasive signal-averaging, including five subjects with BSPM recorded subsequently. The method was also applied on stress-MCG of a subject featuring autonomic dynamics.

Results

HBS could be extracted from 19 out of 21 subjects by signal-averaging whose timing differed from EPS between −8 and 11 ms as tested by 2 observers. HBS in single beats were seen as aligned patterns in inter-beat contours and were appreciable in stress-MCG and conspicuous than BSPM. The performance of the method was evaluated on simulated and measured MCG to be adequate if the signal-to-noise ratio was at least 20 dB.

Conclusions

These results suggest the use of this method for noninvasive assessments on HBS.

背景:在电生理研究(EPS)中,有创记录他束信号(HBS)对于确定HV间隔,即从他束激活心室所需的时间是很重要的。在体表电位映射(BSPM)和心脏磁图(MCG)中,通常通过平均100-200个心电周期时间序列来尝试对HBS进行无创表面测量,后者通过高灵敏度检测器记录弱心脏磁场。然而,无创逐拍HBS提取受到心周期PR段斜坡样心房信号和噪声的挑战。方法利用显示显著HBS的信号平均迹线作为引导迹线,我们开发了一种结合区间相关小波阈值(IDWT)和信号空间投影(SSP)技术的方法来消除单拍的伪影。将该方法应用于已知HV间隔的21例受试者的MCG记录,其中包括随后记录的5例BSPM受试者。该方法还应用于具有自主动力学特征的受试者的应力- mcg。结果经2名观察者测试,21名受试者中有19人可通过信号平均提取出HBS,其时间与EPS相差在- 8 ~ 11 ms之间。单拍下的HBS在拍间轮廓中呈排列模式,在应力- mcg中明显,比BSPM明显。在模拟和测量的MCG上,当信噪比至少为20 dB时,对该方法的性能进行了评估。结论该方法可用于HBS的无创评估。
{"title":"A method for noninvasive beat-by-beat visualization of His bundle signals","authors":"S. Sengottuvel ME,&nbsp;S. Shenbaga Devi PhD,&nbsp;M. Sasikala PhD,&nbsp;S. Satheesh DM,&nbsp;R. J. Selvaraj MD","doi":"10.1111/anec.13076","DOIUrl":"10.1111/anec.13076","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Invasive recording of His bundle signals (HBS) in electrophysiological study (EPS) is important in determining HV interval, the time taken to activate the ventricles from the His bundle. Noninvasive surface measurements of HBS are attempted by averaging typically 100–200 cardiac cycles of ECG time series in body surface potential mapping (BSPM) and in magnetocardiography (MCG) which records weak cardiac magnetic fields by highly sensitive detectors. However, noninvasive beat-by-beat extraction of HBS is challenged by ramp-like atrial signals and noise in PR segment of the cardiac cycle.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>By making use of a signal-averaged trace showing prominent HBS as a guide trace, we developed a method combining interval-dependent wavelet thresholding (IDWT) and signal space projection (SSP) technique to eliminate artifacts from single beats. The method was applied on MCG recorded on 21 subjects with known HV intervals based on EPS and noninvasive signal-averaging, including five subjects with BSPM recorded subsequently. The method was also applied on stress-MCG of a subject featuring autonomic dynamics.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>HBS could be extracted from 19 out of 21 subjects by signal-averaging whose timing differed from EPS between −8 and 11 ms as tested by 2 observers. HBS in single beats were seen as aligned patterns in inter-beat contours and were appreciable in stress-MCG and conspicuous than BSPM. The performance of the method was evaluated on simulated and measured MCG to be adequate if the signal-to-noise ratio was at least 20 dB.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These results suggest the use of this method for noninvasive assessments on HBS.</p>\u0000 </section>\u0000 </div>","PeriodicalId":8074,"journal":{"name":"Annals of Noninvasive Electrocardiology","volume":"28 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/anec.13076","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10512538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Defibrillation strategies for refractory ventricular fibrillation out-of-hospital cardiac arrest: A systematic review and network meta-analysis 难治性室颤院外心脏骤停的除颤策略:系统回顾和网络荟萃分析
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-07-22 DOI: 10.1111/anec.13075
Mohamed T. Abuelazm MBBCh, Ahmed Ghanem MD, Basant E. Katamesh MBBCh, Abdul Rhman Hassan MBBCh, Hassan Abdalshafy MBBCh Candidate, Amith Reddy Seri MBBS, Ahmed K. Awad MBBCh, Mohamed Abdelnabi MD, Basel Abdelazeem MD

Background and Objective

Double sequential external defibrillation (DSED) and vector-change defibrillation (VCD) have been suggested to enhance clinical outcomes for patients with ventricular fibrillation (VF) refractory of standard defibrillation (SD). Therefore, this network meta-analysis aims to evaluate the comparative efficacy of DSED, VCD, and SD for refractory VF.

Methods

A systematic review and network meta-analysis synthesizing randomized controlled trials (RCTs) and comparative observational studies retrieved from PubMed, EMBASE, WOS, SCOPUS, and Cochrane through November 15th, 2022. R software netmeta and netrank package (R version 4.2.0) and meta-insight software were used to pool dichotomous outcomes using odds ratio (OR) presented with the corresponding confidence interval (CI). Our protocol was prospectively published in PROSPERO with ID: CRD42022378533.

Results

We included seven studies with a total of 1632 participants. DSED was similar to SD in survival to hospital discharge (OR: 1.14 with 95% CI [0.55, 2.83]), favorable neurological outcome (modified Rankin scale ≤2 or cerebral performance category ≤2) (OR: 1.35 with 95% CI [0.46, 3.99]), and return of spontaneous circulation (ROSC) (OR: 0.81 with 95% CI [0.43; 1.5]). In addition, VCD was similar to SD in survival to hospital discharge (OR: 1.12 with 95% CI [0.27, 4.57]), favorable neurological outcome (OR: 1.01 with 95% CI [0.18, 5.75]), and ROSC (OR: 0.88 with 95% CI [0.24; 3.15]).

Conclusion

Double sequential external defibrillation and VCD were not associated with enhanced outcomes in patients with refractory VF out-of-hospital cardiac arrest, compared to SD. However, the current evidence is still inconclusive, warranting further large-scale RCTs.

背景与目的双顺序体外除颤(DSED)和载体变化除颤(VCD)被认为可以提高标准除颤(SD)难治性心室颤动(VF)患者的临床疗效。因此,本网络荟萃分析旨在评估DSED、VCD和SD治疗难治性VF的比较疗效。方法通过系统评价和网络荟萃分析,综合从PubMed、EMBASE、WOS、SCOPUS和Cochrane检索到的截至2022年11月15日的随机对照试验(rct)和比较观察性研究。采用R软件netmeta and netrank package (R version 4.2.0)和meta-insight软件,采用比值比(OR)和相应的置信区间(CI)对二分类结果进行汇总。我们的方案已前瞻性地发表在PROSPERO杂志上,ID: CRD42022378533。结果我们纳入了7项研究,共1632名受试者。DSED与SD在存活至出院(OR: 1.14, 95% CI[0.55, 2.83])、良好的神经预后(改良Rankin量表≤2或脑功能类别≤2)(OR: 1.35, 95% CI[0.46, 3.99])和自然循环恢复(ROSC) (OR: 0.81, 95% CI [0.43;1.5])。此外,VCD与SD在存活至出院(OR: 1.12, 95% CI[0.27, 4.57])、良好的神经预后(OR: 1.01, 95% CI[0.18, 5.75])和ROSC (OR: 0.88, 95% CI [0.24;3.15])。结论与SD相比,双序贯体外除颤和VCD与难治性VF院外心脏骤停患者的预后改善无关。然而,目前的证据仍然不确定,需要进一步的大规模随机对照试验。
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引用次数: 0
Ultrasound-guided pacemaker implantation at the bedside: A lifesaving technique for cardiac emergencies 床边超声引导心脏起搏器植入:心脏紧急情况下的救命技术
IF 1.9 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2023-07-19 DOI: 10.1111/anec.13071
Rong-Quan Xu MM, Xiao-Feng Huang MM, Ping-Qing Guo MM, Hong-Bin Cai MB, Shao-Dan Feng MD, Zhi-Hong Lin MD
To investigate the safety and effectiveness of implanting temporary pacemakers using ultrasound‐guidance at the bedside for rescuing patients in case of cardiac emergencies.
目的探讨超声引导下床边置放临时起搏器抢救心脏急症患者的安全性和有效性。方法本研究纳入194例需要临时起搏器的心脏急症患者,随机分为床边超声引导安装组和心电图引导安装组。床边超声引导安装组105例,年龄约66.3±10.2岁;心电图引导安装组89例,年龄约65.8±9.5岁,两组疾病构成相似。然后,我们比较了两组手术的持续时间、成功率和不良事件的发生。结果两组临床表现相似。床边超声引导安装组静脉穿刺和临时起搏器电极放置成功率均为100%,而心电图引导安装组分别为87.8%和96.7%,两组差异有统计学意义。床边超声引导下安装组穿刺时间明显短于心电图引导下安装组,差异有统计学意义。床边超声引导安装组无血肿、气胸、电极脱位等不良事件发生,心电图引导安装组有13例不良事件发生,差异有统计学意义。结论超声引导下床边置放临时起搏器是一种简单、安全、有效、经济的方法,成功率高,不涉及放射线,可实现电极导管的准确放置。
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引用次数: 0
期刊
Annals of Noninvasive Electrocardiology
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