International journal of cardiology最新文献

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A deep-learning system integrating electrocardiograms and laboratory indicators for diagnosing acute aortic dissection and acute myocardial infarction
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-27 DOI: 10.1016/j.ijcard.2025.133008
Liping Wang , Hai Wu , Chaoyong Wu , Lan Shu , Dehao Zhou
{"title":"A deep-learning system integrating electrocardiograms and laboratory indicators for diagnosing acute aortic dissection and acute myocardial infarction","authors":"Liping Wang ,&nbsp;Hai Wu ,&nbsp;Chaoyong Wu ,&nbsp;Lan Shu ,&nbsp;Dehao Zhou","doi":"10.1016/j.ijcard.2025.133008","DOIUrl":"10.1016/j.ijcard.2025.133008","url":null,"abstract":"<div><h3>Background</h3><div>Acute Stanford Type A aortic dissection (AAD-type A) and acute myocardial infarction (AMI) present with similar symptoms but require distinct treatments. Efficient differentiation is critical due to limited access to radiological equipment in many primary healthcare. This study develops a multimodal deep learning model integrating electrocardiogram (ECG) signals and laboratory indicators to enhance diagnostic accuracy for AAD-type A and AMI.</div></div><div><h3>Methods</h3><div>We gathered ECG and laboratory data from 136 AAD-type A and 141 AMI patients at Zigong Fourth People's Hospital (January 2019 to December 2023) for training and validation. Utilizing ResNet-34 (residual network), we extracted ECG features and combined them with laboratory and demographic data. We assessed logistic regression, RandomForest, XGBoost, and LightGBM models, employing shapley additive explanations (SHAP) for feature importance analysis. Data from 30 AMI and 32 AAD-type A patients (January to September 2024) were used as a prospective test set.</div></div><div><h3>Results</h3><div>Incorporating ECG features significantly improved model's AUC value, with the RandomForest achieving the best performance (AUC 0.98 on validation, 0.969 on test). SHAP analysis revealed that troponin and D-dimer, along with the embedding features of ECG extracted by the deep neural network, are key characteristics for differentiating AAD-type A and AMI.</div></div><div><h3>Conclusion</h3><div>ECG features are valuable for distinguishing AAD-type A and AMI, offering a novel tool for rapid cardiovascular disease diagnosis through multimodal data fusion and deep learning.</div></div>","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 133008"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Rediscovering racial disparities in tricuspid regurgitation: A call for increased and targeted treatment approach
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-25 DOI: 10.1016/j.ijcard.2025.133007
Maurizio Tusa , Sara Amicone
{"title":"Rediscovering racial disparities in tricuspid regurgitation: A call for increased and targeted treatment approach","authors":"Maurizio Tusa ,&nbsp;Sara Amicone","doi":"10.1016/j.ijcard.2025.133007","DOIUrl":"10.1016/j.ijcard.2025.133007","url":null,"abstract":"","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 133007"},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 comprehensive impact of GLP1Ras on CKM syndrome
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-25 DOI: 10.1016/j.ijcard.2025.133012
Yu Horiuchi , Nicholas Wettersten , Kengo Tanabe
{"title":"A comprehensive impact of GLP1Ras on CKM syndrome","authors":"Yu Horiuchi ,&nbsp;Nicholas Wettersten ,&nbsp;Kengo Tanabe","doi":"10.1016/j.ijcard.2025.133012","DOIUrl":"10.1016/j.ijcard.2025.133012","url":null,"abstract":"","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 133012"},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Comparison of temporary mechanical circulatory support devices for patients with cardiogenic shock after acute myocardial infarction: A network meta-analysis of randomized controlled trials
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-25 DOI: 10.1016/j.ijcard.2025.132997
Tetsuya Saito , Atsuyuki Watanabe , Tadao Aikawa , Navin K. Kapur , Toshiki Kuno
{"title":"Comparison of temporary mechanical circulatory support devices for patients with cardiogenic shock after acute myocardial infarction: A network meta-analysis of randomized controlled trials","authors":"Tetsuya Saito ,&nbsp;Atsuyuki Watanabe ,&nbsp;Tadao Aikawa ,&nbsp;Navin K. Kapur ,&nbsp;Toshiki Kuno","doi":"10.1016/j.ijcard.2025.132997","DOIUrl":"10.1016/j.ijcard.2025.132997","url":null,"abstract":"<div><h3>Background</h3><div>Despite the high mortality of cardiogenic shock after acute myocardial infarction (AMI-CS), the comparative efficacy and safety of mechanical circulatory support (MCS) in patients with AMI-CS is unknown. This study aimed to compare the efficacy and safety of various MCS with initial medical therapy for AMI-CS patients.</div></div><div><h3>Methods</h3><div>We searched PubMed and EMBASE in July 2024. Randomized controlled trials (RCTs) comparing at least any of the following 2 were included: initial medical therapy, intra-aortic balloon pump (IABP), percutaneous ventricular assist device (pVAD), or extracorporeal membrane oxygenation (ECMO). We performed a network meta-analysis using a frequentist approach. The primary outcome was mid-term (6–12 months) mortality. The secondary outcomes were short-term (30-day or in-hospital) mortality, major bleeding, and vascular complications.</div></div><div><h3>Results</h3><div>We included a total of 1845 patients with AMI-CS from 14 RCTs. There was no significant difference in short-term mortality between the treatment groups. However, pVAD and ECMO were associated with higher risks of major bleeding and vascular complications compared to initial medical therapy. Compared to initial medical therapy, pVAD (hazard ratio [HR], 0.77; 95 % confidence interval [CI], 0.60–1.00; <em>p</em> = 0.054) and ECMO (HR, 0.51; 95 % CI, 0.26–1.01; p = 0.054) were associated with the marginal benefits in reducing mid-term mortality.</div></div><div><h3>Conclusions</h3><div>In our study, there was no significant benefits of MCS devices in reducing short-term mortality, and pVAD and ECMO were associated with a higher incidence of major bleeding and vascular complications. Although not statistically significant, MCS showed a favorable trend in mid-term mortality.</div></div>","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 132997"},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Long term outcome after surgical tetralogy of Fallot repair at young age: Longitudinal follow-up up to 50 years after surgery.
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-25 DOI: 10.1016/j.ijcard.2025.133005
Robert M. Kauling , Sahra Ünlütürk , Judith A.A.E. Cuypers , Annemien E. van den Bosch , Alexander Hirsch , Chiara Pelosi , Daniel J. Bowen , Ad J.J.C. Bogers , Willem A. Helbing , Isabella Kardys , Jolien W. Roos-Hesselink
{"title":"Long term outcome after surgical tetralogy of Fallot repair at young age: Longitudinal follow-up up to 50 years after surgery.","authors":"Robert M. Kauling ,&nbsp;Sahra Ünlütürk ,&nbsp;Judith A.A.E. Cuypers ,&nbsp;Annemien E. van den Bosch ,&nbsp;Alexander Hirsch ,&nbsp;Chiara Pelosi ,&nbsp;Daniel J. Bowen ,&nbsp;Ad J.J.C. Bogers ,&nbsp;Willem A. Helbing ,&nbsp;Isabella Kardys ,&nbsp;Jolien W. Roos-Hesselink","doi":"10.1016/j.ijcard.2025.133005","DOIUrl":"10.1016/j.ijcard.2025.133005","url":null,"abstract":"<div><h3>Background</h3><div>Little is known about the very long-term outcome in Tetralogy of Fallot (ToF) patients.</div></div><div><h3>Objectives</h3><div>To prospectively evaluate clinical outcome and quality-of-life after surgical repair of ToF.</div></div><div><h3>Methods</h3><div>Single-centre, longitudinal cohort-study evaluating every decade 144 ToF patients who underwent surgical repair &lt;15 years of age between 1968 and 1980.</div></div><div><h3>Results</h3><div>Evaluated were 66 patients (92 %) of the 72 eligible survivors (58 % male, median age at study 48.5 years) with a median follow-up of 45 (range 39-52) years. Cumulative survival at 50 years was 71 % and 84 % when excluding 30-days mortality, while event-free survival was 9 %. Reintervention (40 %) and symptomatic arrhythmias (21 %) were the most common complications, although ventricular tachycardia (VT) was rare (7 %). Cardiac magnetic resonance imaging showed a right ventricular ejection fraction &lt;45 % in 45 % of the cohort and 42 % had a diminished left ventricular function. The aortic root diameter increased over time to &gt;40 mm in 45 % of patients. VO<sub>2</sub>max was reduced in 53 % of patients but stable over time. Self-perceived quality-of-life was stable and comparable to the general Dutch population. Early post-operative arrhythmias, pre-operative low oxygen saturation of the left atrium, VT and declining exercise capacity over time were predictive for mortality, transannular patch for both arrhythmia and pulmonary valve replacement. Surgery post-1975 was protective for pulmonary valve replacement.</div></div><div><h3>Conclusion</h3><div>Only 9 % of ToF patients is alive without a major event at 50 years after surgical repair. Reintervention and symptomatic arrhythmias are especially common, although symptomatic VT is rare. Exercise capacity and self-perceived quality-of-life remained stable.</div></div>","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 133005"},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Reply to letter regarding “Vericiguat in heart failure with reduced ejection fraction patients on guideline-directed medical therapy: Insights from a 6-month real-world study”
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-25 DOI: 10.1016/j.ijcard.2025.133011
Jiangyue Tian , Mei Dong , Xinyu Zhang, Huixia Lu
{"title":"Reply to letter regarding “Vericiguat in heart failure with reduced ejection fraction patients on guideline-directed medical therapy: Insights from a 6-month real-world study”","authors":"Jiangyue Tian ,&nbsp;Mei Dong ,&nbsp;Xinyu Zhang,&nbsp;Huixia Lu","doi":"10.1016/j.ijcard.2025.133011","DOIUrl":"10.1016/j.ijcard.2025.133011","url":null,"abstract":"","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 133011"},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Hypoxia-regulated miR-103-3p/FGF2 axis in adipose-derived stem cells promotes angiogenesis by vascular endothelial cells during ischemic tissue repair.
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-24 DOI: 10.1016/j.ijcard.2025.133004
Yang Lu, Yang Yuhao, Dingsheng Cha, Zehua Li, Lilin Xiao, Xuan Liao, Shenghong Li, Xiao Jiang, Boyong Hu, Hongwei Liu
{"title":"Hypoxia-regulated miR-103-3p/FGF2 axis in adipose-derived stem cells promotes angiogenesis by vascular endothelial cells during ischemic tissue repair.","authors":"Yang Lu, Yang Yuhao, Dingsheng Cha, Zehua Li, Lilin Xiao, Xuan Liao, Shenghong Li, Xiao Jiang, Boyong Hu, Hongwei Liu","doi":"10.1016/j.ijcard.2025.133004","DOIUrl":"https://doi.org/10.1016/j.ijcard.2025.133004","url":null,"abstract":"<p><strong>Background: </strong>Identifying factors mediating adipose-derived stem cells (ADSCs)-induced endothelial cell angiogenesis in hypoxic skin flap tissue is critical for reconstruction. While the paracrine action of VEGF by adipose-derived stem cells (ADSCs) is established in promoting endothelial cell angiogenesis, the role of FGF2 and its regulatory mechanisms in ADSCs paracrine secretion remains unclear.</p><p><strong>Methods: </strong>We induced hypoxia and examined the expression level of FGF2 in ADSCs using ELISA, qRT-PCR, and western blotting. Proliferation of ADSCs under hypoxia was assessed using a CCK-8 assay. Co-culture experiments of hypoxia-induced ADSCs with vascular endothelial cells were conducted, and migration and tube formation abilities were evaluated through wound healing assays, transwell cell migration, and tube formation experiments.</p><p><strong>Results: </strong>Hypoxia treatment induced significant upregulation of FGF2 expression in ADSCs, along with enhanced cell proliferation. Co-culture of hypoxia-induced ADSCs with vascular endothelial cells showed increased migration and tube formation abilities of endothelial cells. Knockdown of FGF2 inhibited these processes, while overexpression of miR-103-3p mimics in ADSCs suppressed endothelial cell migration and tube formation. FGF2 is a direct target of miR-103-3p in ADSCs. miR-103-3p/FGF2 axis regulates ADSCs on the biological activity of co-cultured vascular endothelial cells. Moreover, in the ischemic skin flap nude mouse model, ADSCs injection showed increased blood vessel formation and reduced flap necrosis, with the most significant improvement observed with ADSCs of miR-103-3p inhibitor overexpressed.</p><p><strong>Conclusion: </strong>Hypoxia induces paracrine secretion of FGF2 from ADSCs, which enhances endothelial cell angiogenesis. FGF2 expression is regulated by miR-103-3p in ADSCs. The miR-103-3p/FGF2 axis induces endothelial cell migration and angiogenesis and finally modulates ischemic skin flap repair in nude mice in vivo.</p>","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":" ","pages":"133004"},"PeriodicalIF":3.2,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 new simple chronic heart failure prognostic index based on five general parameters
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-24 DOI: 10.1016/j.ijcard.2025.133002
Helena Hipólito-Reis , Carolina Guimarães , Catarina Elias , Rita Gouveia , Sérgio Madureira , Catarina Reis , Ana Margarida Fonseca , Carlos Grijó , Ana Neves , Mariana Matos , Helena Rocha , Jorge Almeida , Patrícia Lourenço
{"title":"A new simple chronic heart failure prognostic index based on five general parameters","authors":"Helena Hipólito-Reis ,&nbsp;Carolina Guimarães ,&nbsp;Catarina Elias ,&nbsp;Rita Gouveia ,&nbsp;Sérgio Madureira ,&nbsp;Catarina Reis ,&nbsp;Ana Margarida Fonseca ,&nbsp;Carlos Grijó ,&nbsp;Ana Neves ,&nbsp;Mariana Matos ,&nbsp;Helena Rocha ,&nbsp;Jorge Almeida ,&nbsp;Patrícia Lourenço","doi":"10.1016/j.ijcard.2025.133002","DOIUrl":"10.1016/j.ijcard.2025.133002","url":null,"abstract":"<div><h3>Background</h3><div>Prognostic prediction in heart failure (HF) is challenging and no single marker has proven effective. We propose an index based on B-type natriuretic peptide (BNP) and four widely available parameters.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed adult outpatients with chronic HF with systolic dysfunction followed from January 2012 to December 2020. The new proposed index was calculated based on 5 parameters measured at the index visit. BASIC index = (BNP*(age)<sup>2</sup>) / (serum sodium*hemoglobin*estimated glomerular filtration rate). Patients were followed-up until January 2023; the primary endpoint was all-cause mortality. A receiver operator curve was used to assess the association of the index with outcome; a cut-off was chosen based on the curve. We used a Cox-regression analysis to determine the prognostic value of the index. Adjustments were made considering established prognostic predictors.</div></div><div><h3>Results</h3><div>We studied 1065 patients. Mean age was 71 years, 65.8 % were male, 45.3 % had ischemic HF and 47.2 % had severe systolic dysfunction. During a 47-months median follow-up, 545 patients died (51.2 %). Median BASIC index: 11.7 (3.5–33.7). The area under the curve was 0.73 (0.70–0.76) vs 0.69 (0.66–0.72) for BNP, <em>p</em> &lt; 0.001. The best cut-off value was 9.3; sensitivity = 71.4 %, specificity = 62.3 %, positive predictive value = 66.5 and negative predictive value = 67.5 %. Patients with a BASIC index above 9.3 had a multivariate-adjusted HR of all-cause mortality = 2.70 (2.20–3.22).</div></div><div><h3>Conclusions</h3><div>The incorporation of age, hemoglobin, serum sodium, glomerular filtration rate and BNP in an index significantly improves prognostic prediction when compared to BNP alone. Patients with a BASIC index above 9.3 have an almost 3-fold higher death-risk.</div></div>","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 133002"},"PeriodicalIF":3.2,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Long term outcomes post-ICD in Chagas cardiomyopathy and non-ischemic cardiomyopathy: A comparative analysis
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-23 DOI: 10.1016/j.ijcard.2025.132998
Francisca Tatiana Pereira Gondim , Eduardo Arrais Rocha , Neiberg de Alcantara Lima , Rosa Livia Freitas de Almeida , David Martin , Marcelo de Paula Martins Monteiro , Aloisio Sales Barbosa Gondim , Davi Sales Pereira Gondim , Pedro Sales Pereira Gondim , Roberto da Justa Pires Neto
{"title":"Long term outcomes post-ICD in Chagas cardiomyopathy and non-ischemic cardiomyopathy: A comparative analysis","authors":"Francisca Tatiana Pereira Gondim ,&nbsp;Eduardo Arrais Rocha ,&nbsp;Neiberg de Alcantara Lima ,&nbsp;Rosa Livia Freitas de Almeida ,&nbsp;David Martin ,&nbsp;Marcelo de Paula Martins Monteiro ,&nbsp;Aloisio Sales Barbosa Gondim ,&nbsp;Davi Sales Pereira Gondim ,&nbsp;Pedro Sales Pereira Gondim ,&nbsp;Roberto da Justa Pires Neto","doi":"10.1016/j.ijcard.2025.132998","DOIUrl":"10.1016/j.ijcard.2025.132998","url":null,"abstract":"<div><h3>Background</h3><div>Chagas cardiomyopathy (CCM) is a significant cause of ventricular arrhythmias and sudden cardiac death (SCD). Although, implantable cardiac defibrillators (ICD) have been used for all forms of non-ischemic cardiomyopathy (NICM), studies on ICD efficacy in CCM are scarce.</div></div><div><h3>Objective</h3><div>The present study aims to compare the long-term outcomes, mortality rates, and the occurrence of tachycardia therapies after ICD implantation in patients with CCM and NICM.</div></div><div><h3>Methods</h3><div>The study was conducted over an 18-year period beginning in 2003. The primary outcome of this study was the difference in appropriate ICD therapies and mortality among patients in a single center receiving implant for CCM or NICM management. As a secondary outcome, we compared inappropriate shocks, presence of incessant ventricular tachycardia/electrical storm, and SCD.</div></div><div><h3>Results</h3><div>The study included 207 patients (117 with CCM and 90 with NICM). The median follow-up time was 61 months [25–121] in the CCM group and 56.5 months [23–119] in the NICD group. During follow up, 39.3 % (46 patients) died in the CCM group and 5.6 % (5 patients) in the NICM group. Appropriate shocks, appropriate therapies, ATP, electrical storm and inappropriate shocks were all more frequent in patients with CCM.</div></div><div><h3>Conclusion</h3><div>CCM patients experienced higher mortality and more frequent appropriate ICD interventions compared to patients with NICM. ICDs appear effective and safe for long-term management in CCM.</div></div>","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 132998"},"PeriodicalIF":3.2,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy
IF 3.2 2区 医学
International journal of cardiology Pub Date : 2025-01-22 DOI: 10.1016/j.ijcard.2025.132999
Samuela Carigi , Giulia Olivucci , Carlotta Pia Cristalli , Francesca Marzo , Federica Isidori , Silvia Palmieri , Maria Alessandra Schiavo , Francesca Gualandi , Silvia Amati , Luca Maria Rocchetti , Giulia Parmeggiani , Luigi Monti , Elisa Gardini , Michela Bartolotti , Milva Gobbi , Anna Maria Di Cesare , Giovanni Andrea Luisi , Maddalena Graziosi , Elena Biagini , Luciano Potena , Claudio Graziano
{"title":"A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy","authors":"Samuela Carigi ,&nbsp;Giulia Olivucci ,&nbsp;Carlotta Pia Cristalli ,&nbsp;Francesca Marzo ,&nbsp;Federica Isidori ,&nbsp;Silvia Palmieri ,&nbsp;Maria Alessandra Schiavo ,&nbsp;Francesca Gualandi ,&nbsp;Silvia Amati ,&nbsp;Luca Maria Rocchetti ,&nbsp;Giulia Parmeggiani ,&nbsp;Luigi Monti ,&nbsp;Elisa Gardini ,&nbsp;Michela Bartolotti ,&nbsp;Milva Gobbi ,&nbsp;Anna Maria Di Cesare ,&nbsp;Giovanni Andrea Luisi ,&nbsp;Maddalena Graziosi ,&nbsp;Elena Biagini ,&nbsp;Luciano Potena ,&nbsp;Claudio Graziano","doi":"10.1016/j.ijcard.2025.132999","DOIUrl":"10.1016/j.ijcard.2025.132999","url":null,"abstract":"<div><h3>Background</h3><div>non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30–40 % of cases. The identification of a causative gene variant can guide treatment options and cascade testing of at-risk family members. Cardiomyopathy multigene panels are routinely used to identify the genetic cause, but often detect variants of uncertain significance (VUS). Pathogenic variants in <em>RBM20</em> have been reported to account for 2–6 % of familial DCM, but geographic differences can be relevant.</div></div><div><h3>Methods</h3><div>we collected clinical information, cardiac imaging and family history of 101 individuals with DCM, non-dilated left ventricular cardiomyopathy (NDLVC) and isolated left ventricular dilatation from the Emilia-Romagna Region of Italy. Every subject underwent genetic testing through a next generation sequencing panel of genes related to cardiomyopathies. Analysis of single nucleotide polymorphisms (SNP) was used for haplotype analyses.</div></div><div><h3>Results and conclusions</h3><div>in our cohort, seven individuals (7 %) carried the same heterozygous variant in <em>RBM20</em> (chr10–110,821,350-G-A; c.2731G &gt; A; p.Val911Met). The referring laboratories reported four further subjects, for a total of 11 unrelated individuals with DCM or isolated left ventricular dilatation from the same geographical area carrying the same variant. These individuals showed high arrhythmic burden and a possible unfavorable evolution towards advanced heart failure. According to guidelines, this variant is classified as VUS; however, its absence in a large local control database and its clinical consistency among affected subjects supports its contributing role. SNP analysis unveiled a common haplotype in the carriers of this variant, suggesting a founder effect. We emphasize the importance of this finding in terms of diagnosis, management and cascade testing of family members.</div></div>","PeriodicalId":13710,"journal":{"name":"International journal of cardiology","volume":"423 ","pages":"Article 132999"},"PeriodicalIF":3.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143038477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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