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Heart Failure with Improved Ejection Fraction: A New Frontier in Heart Failure Management. 改善射血分数的心力衰竭:心衰管理的新领域。
IF 1.9 4区 医学
Cardiology Pub Date : 2025-01-01 Epub Date: 2024-08-23 DOI: 10.1159/000541105
Takahiro Okumura, Toyoaki Murohara
{"title":"Heart Failure with Improved Ejection Fraction: A New Frontier in Heart Failure Management.","authors":"Takahiro Okumura, Toyoaki Murohara","doi":"10.1159/000541105","DOIUrl":"10.1159/000541105","url":null,"abstract":"","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"155-157"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
A Deep Learning-Based Method for Rapid 3D Whole-Heart Modeling in Congenital Heart Disease. 基于深度学习的先天性心脏病快速三维全心建模方法
IF 1.9 4区 医学
Cardiology Pub Date : 2025-01-01 Epub Date: 2024-10-11 DOI: 10.1159/000541980
Haiping Huang, Yisheng Wu
{"title":"A Deep Learning-Based Method for Rapid 3D Whole-Heart Modeling in Congenital Heart Disease.","authors":"Haiping Huang, Yisheng Wu","doi":"10.1159/000541980","DOIUrl":"10.1159/000541980","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to develop a deep learning-based method for generating three-dimensional heart mesh models for patients with congenital heart disease by integrating medical imaging and clinical diagnostic information.</p><p><strong>Methods: </strong>A deep learning model was trained using CT and cardiac MRI, along with clinical data from 110 patients. The Web-based platform automatically outputs STL files for 3D printing and Unity 3D OBJ files for virtual reality (VR) applications upon uploading the medical images and diagnostic information. The models were tested on three congenital heart disease cases, with corresponding 3D-printed and VR heart models generated.</p><p><strong>Results: </strong>The 3D-printed and VR heart models received high praise from professional doctors for their anatomical accuracy and clarity. Evaluations indicated that the proposed method effectively and rapidly reconstructs complex congenital heart disease structures, proving useful for preoperative planning and diagnostic support.</p><p><strong>Conclusion: </strong>The 3D modeling approach has the potential to enhance the precision of surgical planning and diagnosis for congenital heart disease. Future studies should explore larger datasets and training models for different types of congenital heart disease to validate the model's broad applicability.</p>","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"243-258"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Prognostic Impact of High-Molecular-Weight von Willebrand Factor Multimer Ratio in Classical Low-Flow Low-Gradient Aortic Stenosis. 高分子量 von Willebrand 因子多聚物比率对典型低流量低梯度主动脉瓣狭窄的预后影响。
IF 1.9 4区 医学
Cardiology Pub Date : 2025-01-01 Epub Date: 2024-06-24 DOI: 10.1159/000539731
Joerg Kellermair, Hermann Blessberger, Helmut W Ott, Juergen Kammler, Daniel Kiblboeck, Christian Reiter, Michael Grund, Clemens Steinwender, Sahrai Saeed
{"title":"Prognostic Impact of High-Molecular-Weight von Willebrand Factor Multimer Ratio in Classical Low-Flow Low-Gradient Aortic Stenosis.","authors":"Joerg Kellermair, Hermann Blessberger, Helmut W Ott, Juergen Kammler, Daniel Kiblboeck, Christian Reiter, Michael Grund, Clemens Steinwender, Sahrai Saeed","doi":"10.1159/000539731","DOIUrl":"10.1159/000539731","url":null,"abstract":"<p><strong>Introduction: </strong>High-molecular-weight (HMW) von Willebrand factor (VWF) multimer deficiency occurs in classical low-flow, low-gradient (LF/LG) aortic stenosis (AS) due to shear force-induced proteolysis. The prognostic value of HMW VWF multimer deficiency is unknown. Therefore, we sought to evaluate the impact of HMW VWF multimer deficiency on clinical outcome.</p><p><strong>Methods: </strong>In this prospective research study, a total of 83 patients with classical LF/LG AS were included. All patients underwent dobutamine stress echocardiography to distinguish true-severe (TS) from pseudo-severe (PS) classical LF/LG AS. HMW VWF multimer ratio was calculated using densitometric Western blot band quantification. The primary endpoint was all-cause mortality.</p><p><strong>Results: </strong>Mean age was 79 ± 9 years, and TS classical LF/LG AS was diagnosed in 73% (n = 61) and PS classical LF/LG AS in 27% (n = 22) of all patients. Forty-six patients underwent aortic valve replacement (AVR) and 37 were treated conservatively. During a mean follow-up of 27 ± 17 months, 47 deaths occurred. Major bleeding complications after AVR (10/46; 22%) were more common in patients with HMW VWF multimer ratio <1 (8/17; 47%) in comparison to patients with a normal multimer pattern (2/29; 7%) at baseline (p = 0.003). In a multivariable Cox regression analysis, HMW VWF multimer deficiency was a predictor of all-cause mortality (HR: 3.02 [95% CI: 1.31-6.96], p = 0.009) in the entire cohort. This association was driven by higher mortality rates in the AVR group (multivariable-adjusted HR: 9.4; 95% CI 2.0-43.4, p = 0.004).</p><p><strong>Conclusions: </strong>This is the first study to demonstrate the predictive value of HMW VWF multimer ratio for risk stratification in patients with classical LF/LG AS. HMW VWF multimer deficiency was associated with an increased risk of all-cause mortality and major bleeding complications after AVR.</p>","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"63-71"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141455464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Efficacy of Diagnostic Testing of Suspected Coronary Artery Disease: A Contemporary Review. 疑似冠状动脉疾病诊断测试的有效性:当代回顾
IF 1.9 4区 医学
Cardiology Pub Date : 2025-01-01 Epub Date: 2024-07-23 DOI: 10.1159/000539916
Edward Woods, Josiah Bennett, Sanjay Chandrasekhar, Noah Newman, Affan Rizwan, Rehma Siddiqui, Rabisa Khan, Muzamil Khawaja, Chayakrit Krittanawong
{"title":"Efficacy of Diagnostic Testing of Suspected Coronary Artery Disease: A Contemporary Review.","authors":"Edward Woods, Josiah Bennett, Sanjay Chandrasekhar, Noah Newman, Affan Rizwan, Rehma Siddiqui, Rabisa Khan, Muzamil Khawaja, Chayakrit Krittanawong","doi":"10.1159/000539916","DOIUrl":"10.1159/000539916","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Coronary artery disease (CAD) is a highly prevalent condition which can lead to myocardial ischemia as well as acute coronary syndrome. Early diagnosis of CAD can improve patient outcomes through guiding risk factor modification and treatment modalities.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary: &lt;/strong&gt;Testing for CAD comes with increased cost and risk; therefore, physicians must determine which patients require testing, and what testing modality will offer the most useful data to diagnose patients with CAD. Patients should have an initial risk stratification for pretest probability of CAD based on symptoms and available clinical data. Patients with a pretest probability less than 5% should receive no further testing, while patients with a high pretest probability should be considered for direct invasive coronary angiography. In patients with a pretest probability between 5 and 15%, coronary artery calcium score and or exercise electrocardiogram can be obtained to further risk stratify patients to low-risk versus intermediate-high-risk. Intermediate-high-risk patients should be tested with coronary computed tomography angiography (preferred) versus positron emission tomography or single photon emission computed tomography based on their individual patient characteristics and institutional availability.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Key messages: &lt;/strong&gt;This comprehensive review aimed to describe the available CAD testing modalities, detail their risks and benefits, and propose when each should be considered in the evaluation of a patient with suspected CAD.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Coronary artery disease (CAD) is a highly prevalent condition which can lead to myocardial ischemia as well as acute coronary syndrome. Early diagnosis of CAD can improve patient outcomes through guiding risk factor modification and treatment modalities.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Summary: &lt;/strong&gt;Testing for CAD comes with increased cost and risk; therefore, physicians must determine which patients require testing, and what testing modality will offer the most useful data to diagnose patients with CAD. Patients should have an initial risk stratification for pretest probability of CAD based on symptoms and available clinical data. Patients with a pretest probability less than 5% should receive no further testing, while patients with a high pretest probability should be considered for direct invasive coronary angiography. In patients with a pretest probability between 5 and 15%, coronary artery calcium score and or exercise electrocardiogram can be obtained to further risk stratify patients to low-risk versus intermediate-high-risk. Intermediate-high-risk patients should be tested with coronary computed tomography angiography (preferred) versus positron emission tomography or single photon emission computed tomography based on their individual patient characteristics and institutional availability.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Key messages: &lt;/strong&gt;This comprehensive review aimed to d","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"111-132"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11965859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626086","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
Evaluation of the Factors Influencing Blood Transfusion during Minimally Invasive Direct Coronary Artery Bypass Surgery. 评估微创直接冠状动脉搭桥手术中输血的影响因素。
IF 1.9 4区 医学
Cardiology Pub Date : 2025-01-01 Epub Date: 2024-07-26 DOI: 10.1159/000540349
Zhenmin Sun, Zhongqi Cui, Yan Xie, Lei Wang, Zhengqian Li, Xiaoyu Yang, Xiaoqing Zhang, Jun Wang
{"title":"Evaluation of the Factors Influencing Blood Transfusion during Minimally Invasive Direct Coronary Artery Bypass Surgery.","authors":"Zhenmin Sun, Zhongqi Cui, Yan Xie, Lei Wang, Zhengqian Li, Xiaoyu Yang, Xiaoqing Zhang, Jun Wang","doi":"10.1159/000540349","DOIUrl":"10.1159/000540349","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;The objective of this study was to analyze the blood transfusion factors of minimally invasive direct coronary artery bypass (MIDCAB) surgery using artificial intelligence.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A retrospective analysis was performed for patients undergoing MIDCAB operations and no heart-lung machine was used from January 2017 to September 2022 in our hospital. The influencing factors of blood transfusion were used to build the artificial intelligence model. Eighty percent of the database was used as the training set, and twenty percent database was used as the testing set. To predict whether to use red blood cells during operation, we compared 104 artificial intelligence models. We aimed to assess whether which factors influence allogeneic transfusion in MIDCAB operations.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Of the 104 machine learning algorithms, the XGBoost model delivered the best performance, with an AUC of 0.726 in the testing set and an accuracy of 0.854 in the testing set. The artificial intelligence model showed preoperative hemoglobin less than 120 g/L, prothrombin time greater than 13.75, body mass index less than 22.7 kg/m2, coronary heart disease with additional comorbidities, a history of percutaneous coronary intervention, weight lower than 67 kg were the six major risk factors of allogeneic transfusion.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;The XGBoost model can predict transfusion or not transfusion in MIDCBA surgery with high accuracy.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;The objective of this study was to analyze the blood transfusion factors of minimally invasive direct coronary artery bypass (MIDCAB) surgery using artificial intelligence.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A retrospective analysis was performed for patients undergoing MIDCAB operations and no heart-lung machine was used from January 2017 to September 2022 in our hospital. The influencing factors of blood transfusion were used to build the artificial intelligence model. Eighty percent of the database was used as the training set, and twenty percent database was used as the testing set. To predict whether to use red blood cells during operation, we compared 104 artificial intelligence models. We aimed to assess whether which factors influence allogeneic transfusion in MIDCAB operations.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Of the 104 machine learning algorithms, the XGBoost model delivered the best performance, with an AUC of 0.726 in the testing set and an accuracy of 0.854 in the testing set. The artificial intelligence model showed preoperative hemoglobin less than 120 g/L, prothrombin time greater than 13.75, body mass index less than 22.7 kg/m2, coronary heart disease with additional comorbidities, a history of percutaneous coronary intervention, weight lower than 67 kg were the six major risk factors of allogeneic transfusion.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;The XGBoost model can predict transfusion or not transfusion in MI","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"98-110"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11797936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141787259","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
Floppy Mitral Valve/Mitral Valve Prolapse and Manifestations Not Related to Mitral Regurgitation: Time to Search the Dark Side of the Moon. 松弛的二尖瓣/二尖瓣脱垂和与二尖瓣反流无关的表现:是时候寻找月球的黑暗面了。
IF 1.9 4区 医学
Cardiology Pub Date : 2025-01-01 Epub Date: 2024-09-03 DOI: 10.1159/000541179
Konstantinos Dean Boudoulas, Antonios Pitsis, Cezar Iliescu, Konstantinos Marmagkiolis, Filippos Triposkiadis, Harisios Boudoulas
{"title":"Floppy Mitral Valve/Mitral Valve Prolapse and Manifestations Not Related to Mitral Regurgitation: Time to Search the Dark Side of the Moon.","authors":"Konstantinos Dean Boudoulas, Antonios Pitsis, Cezar Iliescu, Konstantinos Marmagkiolis, Filippos Triposkiadis, Harisios Boudoulas","doi":"10.1159/000541179","DOIUrl":"10.1159/000541179","url":null,"abstract":"<p><strong>Background: </strong>Floppy mitral valve/mitral valve prolapse (FMV/MVP) is a complex entity in which several clinical manifestations are not directly related to the severity of mitral regurgitation (MR).</p><p><strong>Summary: </strong>Patients with FMV/MVP and trivial to mild MR may have exercise intolerance, orthostatic phenomena, syncope/presyncope, chest pain, and ventricular arrhythmias, among others. Several anatomical and pathophysiologic consequences related to the abnormal mitral valve apparatus and to prolapse of the mitral leaflets into the left atrium provide some explanation for these symptoms. Further, it should be emphasized that MVP is a non-specific finding, while FMV (redundant mitral leaflets, elongated/rupture chordae tendineae, annular dilatation) is the central issue in the MVP story.</p><p><strong>Key message: </strong>The purpose of this review was to highlight the clinical manifestations of FMV/MVP not directly related to the severity of MR and to discuss the pathophysiologic mechanisms contributing to these manifestations.</p>","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"283-293"},"PeriodicalIF":1.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142124894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Left Atrial Appendage Closure versus Oral Anticoagulation: Still a Matter of Debate. 左心耳封闭vs.口服抗凝:仍有争议。
IF 1.9 4区 医学
Cardiology Pub Date : 2024-12-28 DOI: 10.1159/000543077
Raffaele Falco, Patrizio Mazzone, Gavino Casu
{"title":"Left Atrial Appendage Closure versus Oral Anticoagulation: Still a Matter of Debate.","authors":"Raffaele Falco, Patrizio Mazzone, Gavino Casu","doi":"10.1159/000543077","DOIUrl":"10.1159/000543077","url":null,"abstract":"","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"1-4"},"PeriodicalIF":1.9,"publicationDate":"2024-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Eligibility for Rapid Up-Titration of Guideline-Directed Medical Therapy of Real-World Patients Hospitalised for Heart Failure. 现实世界中因心力衰竭住院的患者接受指南指导的药物治疗快速升滴定的资格
IF 1.9 4区 医学
Cardiology Pub Date : 2024-12-21 DOI: 10.1159/000543070
Fanni Bánfi-Bacsárdi, Zsolt Forrai, Ádám Kazay, Tamás Füzesi, Máté Vámos, Tamás G Gergely, Dávid Pilecky, Anna Komáromi, Mihály Dániel Szőnyi, Emese Papp, Balázs Solymossi, Veronika Baksa, Péter Andréka, Zsolt Piróth, Noémi Nyolczas, Balázs Muk
{"title":"Eligibility for Rapid Up-Titration of Guideline-Directed Medical Therapy of Real-World Patients Hospitalised for Heart Failure.","authors":"Fanni Bánfi-Bacsárdi, Zsolt Forrai, Ádám Kazay, Tamás Füzesi, Máté Vámos, Tamás G Gergely, Dávid Pilecky, Anna Komáromi, Mihály Dániel Szőnyi, Emese Papp, Balázs Solymossi, Veronika Baksa, Péter Andréka, Zsolt Piróth, Noémi Nyolczas, Balázs Muk","doi":"10.1159/000543070","DOIUrl":"https://doi.org/10.1159/000543070","url":null,"abstract":"<p><strong>Introduction and aims: </strong>The 2023 Focused Update of the 2021 ESC Heart Failure (HF) Guidelines recommends the rapid up-titration (RT) of guideline-directed medical therapy (GDMT) for all patients hospitalised for HF to improve prognosis in light of the STRONG-HF trial. However, the real-world feasibility of RT and the optimal selection of suitable patients may cause difficulties as the STRONG-HF trial applied strict randomisation criteria. We aimed to assess the proportion of hospitalised HF patients suitable for RT after discharge.</p><p><strong>Methods: </strong>The proportion of patients eligible for RT based on the basic inclusion and exclusion criteria of the STRONG-HF trial (systolic blood pressure [SBP] ≥100 mm Hg, heart rate [HR] ≥60 min-1, serum potassium ≤5 mmol/L, estimated glomerular filtration rate [eGFR] ≥30 mL/min/1.73 m2, discharge N-terminal pro-B type natriuretic peptide [NT-proBNP] >1,500 pg/mL) was assessed in a consecutive patient cohort at a tertiary referral centre between April 01, 2021, and December 31, 2023.</p><p><strong>Results: </strong>Data from 408 consecutive patients were analysed (male: 71%; age: 62 [51-72] years; left ventricular ejection fraction: 27 [20-35]%; HF with reduced ejection fraction: 82%; hypertension: 67%; diabetes: 36%; atrial fibrillation: 47%). 78% of the patients were suitable for RT based on the SBP criterion, 93% on HR, 89% on serum potassium, and 91% on eGFR values. Thus, 60% were eligible for RT using the combined assessment of these parameters. When including the NT-proBNP value as well (60%), 34% of the cohort were eligible for RT.</p><p><strong>Conclusions: </strong>Based on our study, the proportion of patients suitable for RT of GDMT ranged from 34% to 60% based on the basic eligibility indicators of the STRONG-HF trial. Our results highlight the strategic importance of careful selection of patients eligible for RT.</p>","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"1-11"},"PeriodicalIF":1.9,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
The Role of TBX20 Gene Mutations in the Pathogenesis of Congenital Heart Disease: Functional Analysis and Genetic Association Study. TBX20基因突变在先天性心脏病发病中的作用:功能分析和遗传关联研究。
IF 1.9 4区 医学
Cardiology Pub Date : 2024-12-16 DOI: 10.1159/000542803
Qi Sun, Qing Li, Zhenzhen Qin, Yunhong Wen, Caixia Liu
{"title":"The Role of TBX20 Gene Mutations in the Pathogenesis of Congenital Heart Disease: Functional Analysis and Genetic Association Study.","authors":"Qi Sun, Qing Li, Zhenzhen Qin, Yunhong Wen, Caixia Liu","doi":"10.1159/000542803","DOIUrl":"10.1159/000542803","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital heart disease (CHD) is a common congenital anomaly with a significant global health impact, but its genetic underpinnings remain partially understood. TBX20 gene mutations have been implicated in CHD pathogenesis, with effects on cardiac development and function. This study investigates the impact of TBX20 mutations on CHD risk through a combination of experimental analysis and meta-analysis.</p><p><strong>Methods: </strong>Genetic screening of 353 CHD patients and 350 healthy children was conducted using high-throughput sequencing technology to identify TBX20 gene mutations. Homology modeling and molecular dynamics simulations were employed to assess the mutations' effects on the structure and function of the TBX20 protein. The impact of these mutations on the cardiac cell phenotype was further verified through in vitro experiments. A meta-analysis, incorporating literature search and quality assessment, was conducted to quantitatively evaluate the relationship between TBX20 gene mutations and CHD risk.</p><p><strong>Results: </strong>Two critical mutations in the TBX20 gene (missense mutation I121F and synonymous mutation T262T) were identified, and bioinformatics predictions along with molecular modeling revealed potential decreases in protein structural stability. The meta-analysis, including five studies, indicated that TBX20 gene mutations significantly increase CHD risk (pooled OR = 5.73, 95% CI = 2.54, 12.91). The influence of mutant TBX20 on its mRNA expression levels and downstream target gene ANF promoter activity further supported this finding. Sensitivity analysis and publication bias assessment confirmed the robustness of the results.</p><p><strong>Conclusion: </strong>This study confirms that TBX20 gene mutations play a significant role in the pathogenesis of CHD, affecting protein structure and function and significantly increasing CHD risk. These findings offer new insights into the genetic basis of CHD and may impact future diagnostic and therapeutic strategies.</p>","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"1-18"},"PeriodicalIF":1.9,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142833904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Adjunctive Left Atrial Posterior Wall Isolation in Treating Non-Paroxysmal Atrial Fibrillation: An Updated Meta-Analysis of Randomized Clinical Trials. 辅助左心房后壁隔离治疗非阵发性心房颤动:一项随机临床试验的最新meta分析。
IF 1.9 4区 医学
Cardiology Pub Date : 2024-12-06 DOI: 10.1159/000542368
Zhaofeng Li, Tingwen Gao, Wei Li, Xue Wang, Xinxing Xie
{"title":"Adjunctive Left Atrial Posterior Wall Isolation in Treating Non-Paroxysmal Atrial Fibrillation: An Updated Meta-Analysis of Randomized Clinical Trials.","authors":"Zhaofeng Li, Tingwen Gao, Wei Li, Xue Wang, Xinxing Xie","doi":"10.1159/000542368","DOIUrl":"https://doi.org/10.1159/000542368","url":null,"abstract":"<p><strong>Background: </strong>The clinical outcomes of adjunctive posterior wall isolation (PWI) beyond pulmonary vein isolation (PVI) for non-paroxysmal atrial fibrillation (AF) remain unclear. This meta-analysis was conducted to evaluate the role of PWI in non-paroxysmal AF by pooled analysis of most updated randomized controlled trials (RCTs).</p><p><strong>Methods: </strong>A literature search in PubMed, Embase, and the Cochrane Library was performed to identify RCTs comparing the outcomes of PVI with and without PWI in non-paroxysmal AF patients. The primary outcomes were recurrence rates of all atrial arrhythmias, AF, and atrial tachycardia/flutter (AT/AFL). The secondary outcomes included total procedure time, ablation time, fluoroscopy time and procedure-related complications. Estimated risk ratios (RRs) and 95% confidence intervals (CIs) were evaluated.</p><p><strong>Results: </strong>Nine RCTs with a total of 1,243 non-paroxysmal AF patients were included in our analysis. There were no significant differences in all atrial arrhythmias recurrence (RR: 0.86, 95% CI: 0.66-1.11, p = 0.24, I2 = 49%) and AF recurrence (RR: 0.74, 95% CI: 0.51-1.08, p = 0.12, I2 = 62%) between stand-alone PVI group and PVI plus PWI group. Adjunctive PWI increased the AT/AFL recurrence rate (RR: 1.62 95% CI: 1.08-2.42, p = 0.02, I2 = 0%). In the subgroup analysis, PWI using cryoballoon ablation was associated with a significantly lower recurrence rate of all atrial arrhythmias (p = 0.01) and AF (p = 0.02) recurrence and similar recurrence rate of AT/AFL (p = 0.15). Additional PWI was associated with an increased AT/AFL recurrence (p = 0.03) in patients with left atrial diameter (LAD) <44 mm. Adjunctive PWI needed longer ablation time, fluoroscopy time, and total procedure time. The incidence of procedural adverse events was low and similar between both groups.</p><p><strong>Conclusion: </strong>Adjunctive PWI beyond PVI did not improve the freedom from all atrial arrhythmias and AF with an increased recurrence rate of AT/AFL in non-paroxysmal AF patients. The ablation energy and LAD might affect the clinical outcome of PWI. However, larger more RCTs were needed to verify our findings.</p>","PeriodicalId":9391,"journal":{"name":"Cardiology","volume":" ","pages":"1-10"},"PeriodicalIF":1.9,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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