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Changes in peak oxygen consumption in Fabry disease and associations with cardiomyopathy severity. 法布里病峰值耗氧量的变化以及与心肌病严重程度的关系。
IF 5.1 2区 医学
Heart Pub Date : 2025-02-12 DOI: 10.1136/heartjnl-2024-324553
Ashwin Roy, Sophie E Thompson, James Hodson, Jan van Vliet, Nicola Condon, Amor Mia Alvior, Christopher O'Shea, Ravi Vijapurapu, Tom E Nightingale, Paul F Clift, Jonathan Townend, Tarekegn Geberhiwot, Richard Paul Steeds
{"title":"Changes in peak oxygen consumption in Fabry disease and associations with cardiomyopathy severity.","authors":"Ashwin Roy, Sophie E Thompson, James Hodson, Jan van Vliet, Nicola Condon, Amor Mia Alvior, Christopher O'Shea, Ravi Vijapurapu, Tom E Nightingale, Paul F Clift, Jonathan Townend, Tarekegn Geberhiwot, Richard Paul Steeds","doi":"10.1136/heartjnl-2024-324553","DOIUrl":"10.1136/heartjnl-2024-324553","url":null,"abstract":"<p><strong>Background: </strong>Fabry disease (FD) causes multiorgan sphingolipid accumulation, with cardiac involvement responsible for the largest burden of morbidity and mortality. Exercise intolerance in FD is prevalent, yet the mechanisms of this are poorly understood. The aim of this study was to assess exercise intolerance in FD and identify whether this correlates with the phase of cardiomyopathy.</p><p><strong>Methods: </strong>This was a retrospective observational study of adults with FD undergoing cardiopulmonary exercise testing (CPEX) between September 2011 and September 2023 at a national referral centre in the UK. The primary outcome measure was peak oxygen uptake (V̇O<sub>2peak</sub>), with forced expiratory volume in 1 s (FEV<sub>1</sub>) used to quantify respiratory impairment. Age-normalised/sex-normalised values were additionally calculated, based on published normal ranges for subgroups of age and sex. The cardiomyopathy phase was classified on a 4-point scale by two FD experts using contemporaneous imaging and biochemistry results.</p><p><strong>Results: </strong>CPEX was completed by 42 patients, with a median age of 54 years and of whom 62% were male. Patients were approximately equally distributed across the four cardiomyopathy phases. At phase I, the mean (±SD) V̇O<sub>2peak</sub> was 28.7±7.7 mL/kg/min, which represented a significant underperformance of 23%, relative to age-normalised and sex-normalised values (expected mean: 37.3±3.2 mL/kg/min, p=0.006). V̇O<sub>2peak</sub> declined significantly across the cardiomyopathy phases (p=0.010), reaching a mean of 21.2±6.1 mL/kg/min at phase IV. Normalised FEV<sub>1</sub> was not found to show a corresponding significant change with cardiomyopathy phase (p=0.683). Impaired left atrial global longitudinal strain as well as biochemical markers of inflammation were associated with impaired V̇O<sub>2peak</sub>.</p><p><strong>Conclusions: </strong>This study identifies significantly impaired aerobic capacity in FD, even in those without phenotypic cardiomyopathy. No corresponding changes in respiratory impairment were observed, suggesting that exercise intolerance may be due to early cardiac sphingolipid accumulation and subsequent atrial and ventricular dysfunction, which increases as cardiomyopathy progresses. As such, peak V̇O<sub>2peak</sub> holds promise as a therapeutic marker of response to FD-specific therapy.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":"230-238"},"PeriodicalIF":5.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142716086","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
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve. 罕见染色体22q11.2拷贝数变异对非综合征型双尖瓣主动脉瓣的贡献。
IF 5.1 2区 医学
Heart Pub Date : 2025-02-12 DOI: 10.1136/heartjnl-2024-324669
Helene DiGregorio, Sara Mansoorshahi, Steven G Carlisle, Catherina Tovar Pensa, Abi Watts, Courtney McNeely, Anna Sabate-Rotes, Anji Yetman, Hector I Michelena, Julie F A De Backer, Laura Muiño Mosquera, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, Simon C Body, Dianna M Milewicz, Siddharth K Prakash
{"title":"Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.","authors":"Helene DiGregorio, Sara Mansoorshahi, Steven G Carlisle, Catherina Tovar Pensa, Abi Watts, Courtney McNeely, Anna Sabate-Rotes, Anji Yetman, Hector I Michelena, Julie F A De Backer, Laura Muiño Mosquera, Malenka M Bissell, Maria Grazia Andreassi, Ilenia Foffa, Dawn S Hui, Anthony Caffarelli, Yuli Y Kim, Rodolfo Citro, Margot De Marco, Justin T Tretter, Kim L McBride, Simon C Body, Dianna M Milewicz, Siddharth K Prakash","doi":"10.1136/heartjnl-2024-324669","DOIUrl":"10.1136/heartjnl-2024-324669","url":null,"abstract":"<p><strong>Background: </strong>Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.2DS), the contribution of rare copy number variants (CNVs) in this region to non-syndromic BAV is less clear. This study is aimed to assess the role of rare 22q11.2 CNVs in patients with early-onset BAV (EBAV) and to determine whether these variants are linked to an increased risk of complications.</p><p><strong>Methods: </strong>Whole genome microarray genotyping was conducted on 272 patients with BAV with early onset valve or aortic disease (EBAV) and 272 biological relatives. CNVs were detected using three independent algorithms, focusing on the 22q11.2 region (18-24 Mb). CNV burden in the EBAV cohort was compared with unselected European ancestry controls.</p><p><strong>Results: </strong>Rare duplications and deletions within the 22q11.2 region, particularly involving genes associated with cardiac development, were identified in 7.4% of EBAV probands. These CNVs were significantly enriched compared with the general population and segregated with BAV in families. Individuals carrying rare 22q11.2 CNVs had a higher prevalence of psychiatric diagnoses and learning difficulties, although they did not exhibit the typical features of 22q11.2DS. Importantly, these CNVs were associated with early onset or complex BAV cases, underscoring their potential clinical relevance.</p><p><strong>Conclusions: </strong>Rare 22q11.2 CNVs play a role in non-syndromic BAV, particularly in cases with early onset or complex presentations. CNV screening could be considered as part of risk stratification for patients with BAV, helping to predict complications and guide management.</p><p><strong>Trial registration number: </strong>NCT01823432.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":"221-229"},"PeriodicalIF":5.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11821425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806880","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
Atrial arrhythmia and heart failure in congenital heart disease: a pas de deux with consequences. 先天性心脏病的心房心律失常和心力衰竭:后果的双人舞。
IF 5.1 2区 医学
Heart Pub Date : 2025-02-12 DOI: 10.1136/heartjnl-2024-325262
Anne S Siegmund, Isabelle C van Gelder, Joost P van Melle
{"title":"Atrial arrhythmia and heart failure in congenital heart disease: a pas de deux with consequences.","authors":"Anne S Siegmund, Isabelle C van Gelder, Joost P van Melle","doi":"10.1136/heartjnl-2024-325262","DOIUrl":"10.1136/heartjnl-2024-325262","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":"191-192"},"PeriodicalIF":5.1,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142947779","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
Impact of prognostic nutritional index on mortality among patients receiving coronary artery bypass grafting surgery: a retrospective cohort study. 预后营养指数对冠状动脉搭桥术患者死亡率的影响:一项回顾性队列研究。
IF 5.1 2区 医学
Heart Pub Date : 2025-02-11 DOI: 10.1136/heartjnl-2024-324471
Lin Sun, Zihua Liu, Xueying Cui, Bo Hu, Wei Li, Yilin Pan, Yangyang Sun, Zikun Wang, Wanyue Dong, Kai Xu, Lixiang Han, Yangyang Zhang, Xin Zhao, Zhi Li
{"title":"Impact of prognostic nutritional index on mortality among patients receiving coronary artery bypass grafting surgery: a retrospective cohort study.","authors":"Lin Sun, Zihua Liu, Xueying Cui, Bo Hu, Wei Li, Yilin Pan, Yangyang Sun, Zikun Wang, Wanyue Dong, Kai Xu, Lixiang Han, Yangyang Zhang, Xin Zhao, Zhi Li","doi":"10.1136/heartjnl-2024-324471","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324471","url":null,"abstract":"<p><strong>Background: </strong>The Prognostic Nutritional Index (PNI), calculated from serum albumin levels and lymphocyte counts, is a simple and objective measure of nutritional status. While PNI has been shown to be a significant prognostic tool in gastrointestinal surgery and heart failure, its role in patients undergoing coronary artery bypass grafting (CABG) remains unclear. This study aims to evaluate whether PNI can serve as a meaningful risk factor for patients undergoing CABG.</p><p><strong>Methods: </strong>This observational retrospective analysis involved a substantial sample of 2889 patients who underwent isolated CABG at one of four medical centres. The primary outcomes included short- and long-term mortality. Perioperative serum albumin levels and total lymphocyte counts used to calculate PNIs were collected 48 hours before the operation, 24 hours after the operation and at discharge. Univariate and multivariate logistic regression analyses were conducted to identify the risk factors of short-term mortality. Survival and relative risks were assessed using Cox regression analysis and the Kaplan-Meier test.</p><p><strong>Results: </strong>Among the 2889 patients, 64 (2.2%) died within 30 days following CABG. Multivariate logistic regression revealed that higher preoperative PNI was independently associated with reduced short-term mortality (OR=0.852 per unit increase, 95% CI 0.802 to 0.904, p<0.001). Regarding long-term outcomes, among the 2825 patients who were discharged alive, 199 deaths occurred over a median follow-up period of 54.9 months. Patients with a normal PNI at discharge (>40) exhibited significantly higher long-term survival rates compared with those with a lower PNI (≤40) (log-rank p=0.003). Multivariate Cox regression analysis confirmed that a normal PNI at discharge(>40) independently predicted a lower risk of long-term all-cause mortality (HR=0.718, 95% CI 0.529 to 0.974, p=0.033).</p><p><strong>Conclusions: </strong>PNI at various time points may play a crucial predictive role in mortality among CABG-treated patients, and a low PNI serves as a risk factor for both short- and long-term survival.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398953","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
Identifying determinants of cardiovascular medication non-adherence to develop individualised interventions. 确定心血管药物不依从的决定因素,制定个体化干预措施。
IF 5.1 2区 医学
Heart Pub Date : 2025-02-11 DOI: 10.1136/heartjnl-2024-325638
Marie de Bakker, Dorien M Kimenai
{"title":"Identifying determinants of cardiovascular medication non-adherence to develop individualised interventions.","authors":"Marie de Bakker, Dorien M Kimenai","doi":"10.1136/heartjnl-2024-325638","DOIUrl":"10.1136/heartjnl-2024-325638","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398952","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
Prognostic implications of iron deficiency in patients with atrial fibrillation, with and without chronic heart failure. 伴或不伴慢性心力衰竭的房颤患者缺铁对预后的影响
IF 5.1 2区 医学
Heart Pub Date : 2025-02-08 DOI: 10.1136/heartjnl-2024-325244
Abdullahi Ahmed Mohamed, Daniel Mølager Christensen, Milan Mohammad, Christian Torp-Pedersen, Lars Koeber, Tor Biering-Sørensen, Morten Lock Hansen, Morten Lamberts, Casper Binding, Mads Hashiba Jensen, Mariam Elmegaard, Nina Nouhravesh, Anders Holt, Morten Schou, Gunnar Gislason
{"title":"Prognostic implications of iron deficiency in patients with atrial fibrillation, with and without chronic heart failure.","authors":"Abdullahi Ahmed Mohamed, Daniel Mølager Christensen, Milan Mohammad, Christian Torp-Pedersen, Lars Koeber, Tor Biering-Sørensen, Morten Lock Hansen, Morten Lamberts, Casper Binding, Mads Hashiba Jensen, Mariam Elmegaard, Nina Nouhravesh, Anders Holt, Morten Schou, Gunnar Gislason","doi":"10.1136/heartjnl-2024-325244","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-325244","url":null,"abstract":"<p><strong>Background: </strong>Iron deficiency (ID) is common in patients with atrial fibrillation/flutter (AF), but its prognostic implications and optimal diagnostic criteria, particularly in those with and without heart failure (HF), remain unclear. This study assessed the associations between different ID definitions and clinical outcomes in patients with AF.</p><p><strong>Methods: </strong>This Danish nationwide cohort study included 10 834 patients with AF who underwent iron studies between 2008 and 2019, stratified by HF status. ID was defined using four criteria: European Society of Cardiology (ESC) guidelines, ferritin <100 ng/mL, transferrin saturation (TSAT) <20% and serum iron ≤13 µmol/L. Associations between ID definitions and all-cause mortality, cardiovascular mortality and all-cause hospitalisation were evaluated using Cox regression models, adjusted for confounders.</p><p><strong>Results: </strong>Prevalence of ID varied substantially across definitions, ranging from 36.2% to 62.7%. Over a median follow-up of 31 months, TSAT <20% was associated with increased all-cause and cardiovascular mortality in both HF (HR 1.25, 95% CI 1.14 to 1.37 and HR 1.31, 95% CI 1.14 to 1.49, respectively) and patients without HF (HR 1.39, 95% CI 1.18 to 1.64 and HR 1.54, 95% CI 1.18 to 2.00, respectively). Similarly, serum iron ≤13 µmol/L was associated with higher all-cause and cardiovascular mortality in HF (HR 1.44, 95% CI 1.31 to 1.58 and HR 1.42, 95% CI 1.24 to 1.63, respectively) and patients without HF (HR 1.67, 95% CI 1.41 to 1.97 and HR 1.46, 95% CI 1.13 to 1.89, respectively). ID defined by ESC guidelines or ferritin <100 ng/mL was not associated with mortality in either group but was linked to higher all-cause hospitalisation in patients with HF (HR 1.15, 95% CI 1.08 to 1.23 and HR 1.16, 95% CI 1.09 to 1.23, respectively).</p><p><strong>Conclusions: </strong>ID defined by TSAT <20% or serum iron ≤13 µmol/L is associated with increased mortality in patients with AF, irrespective of HF status, highlighting these criteria as clinically relevant for risk stratification.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374026","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
Effects of routine invasive management on reinfarction risk in older adults with frailty and non-ST-segment elevation myocardial infarction: a subanalysis of a randomised clinical trial. 常规侵入性治疗对老年人虚弱和非st段抬高型心肌梗死再梗死风险的影响:一项随机临床试验的亚分析
IF 5.1 2区 医学
Heart Pub Date : 2025-02-08 DOI: 10.1136/heartjnl-2024-325254
Juan Sanchis, Hector Bueno, David Martí Sánchez, Manuel Martinez-Selles, Pablo Díez Villanueva, Jose A Barrabes, Francisco Marín, Adolfo Villa, Marcelo Sanmartin Fernandez, Cinta Llibre, Alessandro Sionis, Jaime Elizaga, Fernando Alfonso, Eduardo Nuñez, Julio Núñez, Vijay Kunadian, Albert Ariza-Solé
{"title":"Effects of routine invasive management on reinfarction risk in older adults with frailty and non-ST-segment elevation myocardial infarction: a subanalysis of a randomised clinical trial.","authors":"Juan Sanchis, Hector Bueno, David Martí Sánchez, Manuel Martinez-Selles, Pablo Díez Villanueva, Jose A Barrabes, Francisco Marín, Adolfo Villa, Marcelo Sanmartin Fernandez, Cinta Llibre, Alessandro Sionis, Jaime Elizaga, Fernando Alfonso, Eduardo Nuñez, Julio Núñez, Vijay Kunadian, Albert Ariza-Solé","doi":"10.1136/heartjnl-2024-325254","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-325254","url":null,"abstract":"<p><strong>Background: </strong>Clinical trials and meta-analyses indicate a reduced reinfarction risk with invasive management in older patients with non-ST-segment elevation myocardial infarction (NSTEMI). This study investigated whether similar benefits might be observed in frail patients.</p><p><strong>Methods: </strong>The coMOrbilidades Síndrome Coronario Agudo - FRAIL (MOSCA-FRAIL) trial included 167 adults aged ≥70 years with frailty (Clinical Frailty Scale ≥4 points) and NSTEMI, who were randomised to invasive (n=84) or conservative (n=83) strategy during the index hospitalisation. The primary end point of this subanalysis was reinfarction, considering all-cause mortality as a competing event, at a 3-year median follow-up. The time to first reinfarction and all reinfarctions (first and recurrent) were considered. The substudy was not prespecified.</p><p><strong>Results: </strong>The total number of deaths (93, 56%) exceeded that of first reinfarctions (32, 19%). Invasive treatment did not influence the reinfarction risk when accounting for death as a competing risk (subdistribution HR=0.87, 95% CI 0.54 to 1.40, p=0.56). An initially increased mortality risk with invasive management (significant between days 131 and 175) shifted to a lower mortality risk over time. A total of 45 reinfarctions (first and recurrent) were observed. The longitudinal trajectories corroborated that the invasive strategy did not reduce the risk of reinfarction over time (p=0.72). However, mortality followed a biphasic pattern, with higher mortality in the invasive group during the first 6 months and a reduction between 9 months and 3 years (p=0.05 for the entire time-dependent trajectory). The win ratio for the invasive strategy versus the conservative strategy was 1.08 (95% CI 0.72 to 1.63, p=0.70).</p><p><strong>Conclusions: </strong>In older adults with frailty and NSTEMI, routine invasive management did not reduce the reinfarction risk at a 3-year follow-up. The high all-cause mortality associated with frailty may limit the impact of invasive management. Due to the limited sample size and risk for type II error, these findings should be considered hypothesis-generating.</p><p><strong>Trial registration number: </strong>NCT03208153.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374091","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
Albuminuria and cardiovascular outcomes in early-stage chronic kidney disease. 早期慢性肾脏疾病的蛋白尿和心血管预后
IF 5.1 2区 医学
Heart Pub Date : 2025-02-06 DOI: 10.1136/heartjnl-2024-325660
Carmine Zoccali, Francesca Mallamaci
{"title":"Albuminuria and cardiovascular outcomes in early-stage chronic kidney disease.","authors":"Carmine Zoccali, Francesca Mallamaci","doi":"10.1136/heartjnl-2024-325660","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-325660","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364411","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
The ICAM1 p.K56M variant and risk of heart failure in chronic kidney disease: the Chronic Renal Insufficiency Cohort study. 慢性肾脏病患者ICAM1 p.K56M变异与心衰风险:慢性肾功能不全队列研究
IF 5.1 2区 医学
Heart Pub Date : 2025-02-06 DOI: 10.1136/heartjnl-2024-325205
Kasen Culler, Leila R Zelnick, Rupal C Mehta, Giselle R de Sosa, Mayank Kansal, Panduranga S Rao, Zeenat Bhat, Jonathan Taliercio, Edward Horwitz, Jing Chen, Jiang He, Sanjiv J Shah, Tamara Isakova, Ravi B Patel
{"title":"The <i>ICAM1</i> p.K56M variant and risk of heart failure in chronic kidney disease: the Chronic Renal Insufficiency Cohort study.","authors":"Kasen Culler, Leila R Zelnick, Rupal C Mehta, Giselle R de Sosa, Mayank Kansal, Panduranga S Rao, Zeenat Bhat, Jonathan Taliercio, Edward Horwitz, Jing Chen, Jiang He, Sanjiv J Shah, Tamara Isakova, Ravi B Patel","doi":"10.1136/heartjnl-2024-325205","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-325205","url":null,"abstract":"<p><strong>Background: </strong>Intercellular adhesion molecule-1 (ICAM-1) is a cell-surface protein that facilitates inflammation through leucocyte adhesion. Approximately 35% of Black individuals carry at least one copy of an <i>ICAM1</i> missense variant (rs5491; p.K56M), which has been associated with increased risk of heart failure (HF) with preserved ejection fraction (HFpEF). Whether the risk of HFpEF conferred by rs5491 extends to individuals with chronic kidney disease (CKD), a cohort at high risk for HF, is unknown.</p><p><strong>Aims: </strong>We investigated the association between rs5491 and the incidence of HF in CKD.</p><p><strong>Methods: </strong>We estimated associations of rs5491 with incident HF and HF subtypes among Black individuals who were free from HF at baseline in the Chronic Renal Insufficiency Cohort (CRIC). The CRIC study recruited individuals who were 21-74 years old with estimated glomerular filtration rate (eGFR) of 20-70 mL/min/1.73 m<sup>2</sup> at baseline.</p><p><strong>Results: </strong>Among 1267 Black participants (mean age 57±11 years, 51% female, mean eGFR 45±15 mL/min/1.73 m<sup>2</sup>), 464 (37%) had at least one copy of rs5491. During a median follow-up of 10.3 years (IQR: 4.7-15.0 years), there were 309 incident overall HF hospitalisations (160 HFpEF, 111 HF with reduced ejection fraction (HFrEF) and 38 HF with unknown ejection fraction). Each additional rs5491 allele was significantly associated with incident HFpEF (HR 1.35, 95% CI 1.03 to 1.76, p=0.029). The rs5491 variant was not associated with incident overall HF (HR 1.14, 95% CI 0.93 to 1.39, p=0.20) or incident HFrEF (HR 0.76, 95% CI 0.53 to 1.10, p=0.15).</p><p><strong>Conclusion: </strong>The <i>ICAM1</i> p.K56M variant is specifically associated with increased risk of incident HFpEF among individuals with CKD.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364457","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
Dysglycaemia and incident aortic stenosis: a cohort study. 血糖异常与主动脉狭窄:一项队列研究。
IF 5.1 2区 医学
Heart Pub Date : 2025-02-06 DOI: 10.1136/heartjnl-2024-325150
Viktor Lind, Pia Lundman, Leif Friberg, Mats Talbäck, Niklas Hammar, Göran Walldius, Mozhu Ding, Anna Norhammar
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