JAMA cardiology最新文献

{"title":"Interpreting Health Status Measures in Patients With Heart Failure-What Counts.","authors":"James E Udelson, Clyde W Yancy, Gregg C Fonarow","doi":"10.1001/jamacardio.2024.4610","DOIUrl":"https://doi.org/10.1001/jamacardio.2024.4610","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emergency Medical Service Agency Cardiac Arrest Practices.","authors":"Henry E Wang","doi":"10.1001/jamacardio.2024.3957","DOIUrl":"https://doi.org/10.1001/jamacardio.2024.3957","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142620491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clonal Hematopoiesis of Indeterminate Potential.","authors":"Peter Libby, Ohad Oren, Aeron M Small","doi":"10.1001/jamacardio.2024.3773","DOIUrl":"https://doi.org/10.1001/jamacardio.2024.3773","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142620474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in BAG3","authors":"Joseph Park, Michael G. Levin, David Zhang, Nosheen Reza, Jonathan O. Mead, Eric D. Carruth, Melissa A. Kelly, Alex Winters, Colleen M. Kripke, Renae L. Judy, Scott M. Damrauer, Anjali T. Owens, Lisa Bastarache, Anurag Verma, Daniel D. Kinnamon, Ray E. Hershberger, Marylyn D. Ritchie, Daniel J. Rader","doi":"10.1001/jamacardio.2024.3547","DOIUrl":"https://doi.org/10.1001/jamacardio.2024.3547","url":null,"abstract":"ImportanceThe genetic factors that modulate the reduced penetrance and variable expressivity of heritable dilated cardiomyopathy (DCM) are largely unknown. <jats:italic>BAG3</jats:italic> genetic variants have been implicated in both DCM and hypertrophic cardiomyopathy (HCM), nominating <jats:italic>BAG3</jats:italic> as a gene that harbors potential modifier variants in DCM.ObjectiveTo interrogate the clinical traits and diseases associated with <jats:italic>BAG3</jats:italic> coding variation.Design, Setting, and ParticipantsThis was a cross-sectional study in the Penn Medicine BioBank (PMBB) enrolling patients of the University of Pennsylvania Health System’s clinical practice sites from 2014 to 2023. Whole-exome sequencing (WES) was linked to electronic health record (EHR) data to associate <jats:italic>BAG3</jats:italic> coding variants with EHR phenotypes. This was a health care population-based study including individuals of European and African genetic ancestry in the PMBB with WES linked to EHR phenotypes, with replication studies in BioVU, UK Biobank, MyCode, and DCM Precision Medicine Study.ExposuresCarrier status for <jats:italic>BAG3</jats:italic> coding variants.Main Outcomes and MeasuresAssociation of <jats:italic>BAG3</jats:italic> coding variation with clinical diagnoses, echocardiographic traits, and longitudinal outcomes.ResultsIn PMBB (n = 43 731; median [IQR] age, 65 [50-76] years; 21 907 female [50.1%]), among 30 324 European and 11 198 African individuals, the common C151R variant was associated with decreased risk for DCM (odds ratio [OR], 0.85; 95% CI, 0.78-0.92) and simultaneous increased risk for HCM (OR, 1.59; 95% CI, 1.25-2.02), which was confirmed in the replication cohorts. C151R carriers exhibited improved longitudinal outcomes compared with noncarriers as assessed by age at death (hazard ratio [HR], 0.85; 95% CI, 0.74-0.96; median [IQR] age, 71.8 [63.1-80.7] in carriers and 70.3 [61.6-79.2] in noncarriers) and heart transplant (HR, 0.81; 95% CI, 0.66-0.99; median [IQR] age, 56.7 [46.1-63.1] in carriers and 55.6 [45.2-62.9] in noncarriers). C151R was associated with reduced risk of DCM (OR, 0.42; 95% CI, 0.24-0.74) and heart failure (OR, 0.27; 95% CI, 0.14-0.50) among individuals harboring truncating <jats:italic>TTN</jats:italic> variants in exons with high cardiac expression (n = 358).Conclusions and Relevance<jats:italic>BAG3</jats:italic> C151R was identified as a bidirectional modulator of risk along the DCM-HCM spectrum, as well as an important genetic modifier variant in <jats:italic>TTN</jats:italic>-mediated DCM. This work expands on the understanding of the etiology and penetrance of DCM, suggesting that <jats:italic>BAG3</jats:italic> C151R is an important genetic modifier variant contributing to the variable expressivity of DCM, warranting further exploration of its mechanisms and of genetic modifiers in DCM more broadly.","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"46 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142610300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emergency Medical Service Agency Cardiac Arrest Practices-Reply.","authors":"Saket Girotra, Paul S Chan","doi":"10.1001/jamacardio.2024.3954","DOIUrl":"https://doi.org/10.1001/jamacardio.2024.3954","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142620559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heart Failure With Preserved Ejection Fraction-A Role for Invasive Hemodynamics.","authors":"Gregg C Fonarow, James E Udelson, Clyde W Yancy","doi":"10.1001/jamacardio.2024.3764","DOIUrl":"https://doi.org/10.1001/jamacardio.2024.3764","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of HFpEF in Isolated Severe Secondary Tricuspid Regurgitation.","authors":"Jwan A Naser, Tomonari Harada, Yogesh N Reddy, Sorin V Pislaru, Hector I Michelena, Christopher G Scott, Austin M Kennedy, Patricia A Pellikka, Vuyisile T Nkomo, Mackram F Eleid, Barry A Borlaug","doi":"10.1001/jamacardio.2024.3767","DOIUrl":"10.1001/jamacardio.2024.3767","url":null,"abstract":"<p><strong>Importance: </strong>Secondary tricuspid regurgitation (STR) is observed in multiple cardiac and pulmonary diseases. Heart failure with preserved ejection fraction (HFpEF) is a common cause of STR that may be overlooked, along with precapillary etiologies of pulmonary hypertension (PH).</p><p><strong>Objectives: </strong>To investigate the prevalence of HFpEF and precapillary PH in patients with severe STR of undefined etiology (isolated STR) referred for exercise right heart catheterization (RHC), and to evaluate the performance of noninvasive measures to identify HFpEF.</p><p><strong>Design, setting, and participants: </strong>This retrospective cross-sectional study included consecutive adults with severe STR in the absence of EF less than 50%, hemodynamically significant left-sided valve disease, congenital heart disease, infiltrative or hypertrophic cardiomyopathy, pericardial disease, or prior cardiac procedures who underwent rest-and-exercise RHC between February 2006 and June 2023 at Mayo Clinic and transthoracic echocardiography less than 90 days prior. Diastolic dysfunction (DD) was defined by at least 3 of 4 or 2 of 3 abnormal diastolic parameters (medial e', medial E/e', tricuspid regurgitation [TR] velocity, left atrial volume index). HFpEF was diagnosed when pulmonary arterial wedge pressure was at least 15 mm Hg at rest, at least 19 mm Hg with feet up, or at least 25 mm Hg during exercise. Data analysis was performed from November 2023 to March 2024.</p><p><strong>Main outcomes and measures: </strong>The prevalence of HFpEF and precapillary PH in severe isolated STR was determined, and performance of noninvasive measures to identify HFpEF was evaluated.</p><p><strong>Results: </strong>Overall, 54 patients with severe isolated STR (mean [SD] age, 70.8 [12.5] years; 34 [63%] female) were identified. The primary indication for RHC was evaluation of TR prior to potential intervention in 36 patients (67%), evaluation of PH in 13 (24%), and confirmation of HFpEF in 5 (9%). HFpEF was identified in 40 patients (74%) but was recognized prior to RHC in only 19 patients (35%). Of the 14 remaining patients without HFpEF, precapillary PH was diagnosed in 10 (71%). Guideline-defined DD was absent in 24 patients (60%) who were subsequently diagnosed with HFpEF. Left atrial emptying fraction (area under the receiver operating characteristic curve [AUC] = 0.90; 95% CI, 0.82-0.98) and strain (AUC = 0.91; 95% CI, 0.83-0.99) had robust discrimination for HFpEF.</p><p><strong>Conclusions and relevance: </strong>The findings suggest that HFpEF is underdiagnosed and should be rigorously evaluated for in patients with severe isolated STR, along with precapillary PH, as both have distinct requirements for management. Resting DD based on current guidelines is insufficiently sensitive in these patients, indicating a pressing need for other noninvasive diagnostic tools, such as left atrial function assessment.</p>","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11581657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disease Drivers in Aortic Stenosis vs Atherosclerosis.","authors":"Mark C Blaser, Elena Aikawa","doi":"10.1001/jamacardio.2024.3749","DOIUrl":"https://doi.org/10.1001/jamacardio.2024.3749","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583080","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease.","authors":"Teresa Trenkwalder, Carlo Maj, Baravan Al-Kassou, Radoslaw Debiec, Stefanie A Doppler, Muntaser D Musameh, Christopher P Nelson, Pouria Dasmeh, Sandeep Grover, Katharina Knoll, Joonas Naamanka, Ify R Mordi, Peter S Braund, Martina Dreßen, Harald Lahm, Felix Wirth, Stephan Baldus, Malte Kelm, Moritz von Scheidt, Johannes Krefting, David Ellinghaus, Aeron M Small, Gina M Peloso, Pradeep Natarajan, George Thanassoulis, James C Engert, Line Dufresne, Andre Franke, Siegfried Görg, Matthias Laudes, Ulrike Nowak-Göttl, Mariliis Vaht, Andres Metspalu, Monika Stoll, Klaus Berger, Costanza Pellegrini, Adnan Kastrati, Christian Hengstenberg, Chim C Lang, Thorsten Kessler, Iiris Hovatta, Georg Nickenig, Markus M Nöthen, Markus Krane, Heribert Schunkert, Nilesh J Samani, Johannes Schumacher, Mart Kals, Anu Reigo, Maris Teder-Laving, Jan Gehlen, Thomas R Webb, Ann-Sophie Giel, Laura L Koebbe, Nina Feirer, Maximilian Billmann, Sundar Srinivasan, Sebastian Zimmer, Colin N A Palmer, Ling Li, Chuhua Yang, Oleg Borisov, Matti Adam, Verena Veulemans, Michael Joner, Erion Xhepa","doi":"10.1001/jamacardio.2024.3738","DOIUrl":"10.1001/jamacardio.2024.3738","url":null,"abstract":"<p><strong>Importance: </strong>Aortic stenosis (AS) and coronary artery disease (CAD) frequently coexist. However, it is unknown which genetic and cardiovascular risk factors might be AS-specific and which could be shared between AS and CAD.</p><p><strong>Objective: </strong>To identify genetic risk loci and cardiovascular risk factors with AS-specific associations.</p><p><strong>Design, setting, and participants: </strong>This was a genomewide association study (GWAS) of AS adjusted for CAD with participants from the European Consortium for the Genetics of Aortic Stenosis (EGAS) (recruited 2000-2020), UK Biobank (recruited 2006-2010), Estonian Biobank (recruited 1997-2019), and FinnGen (recruited 1964-2019). EGAS participants were collected from 7 sites across Europe. All participants were of European ancestry, and information on comorbid CAD was available for all participants. Follow-up analyses with GWAS data on cardiovascular traits and tissue transcriptome data were also performed. Data were analyzed from October 2022 to July 2023.</p><p><strong>Exposures: </strong>Genetic variants.</p><p><strong>Main outcomes and measures: </strong>Cardiovascular traits associated with AS adjusted for CAD. Replication was performed in 2 independent AS GWAS cohorts.</p><p><strong>Results: </strong>A total of 18 792 participants with AS and 434 249 control participants were included in this GWAS adjusted for CAD. The analysis found 17 AS risk loci, including 5 loci with novel and independently replicated associations (RNF114A, AFAP1, PDGFRA, ADAMTS7, HAO1). Of all 17 associated loci, 11 were associated with risk specifically for AS and were not associated with CAD (ALPL, PALMD, PRRX1, RNF144A, MECOM, AFAP1, PDGFRA, IL6, TPCN2, NLRP6, HAO1). Concordantly, this study revealed only a moderate genetic correlation of 0.15 (SE, 0.05) between AS and CAD (P = 1.60 × 10-3). Mendelian randomization revealed that serum phosphate was an AS-specific risk factor that was absent in CAD (AS: odds ratio [OR], 1.20; 95% CI, 1.11-1.31; P = 1.27 × 10-5; CAD: OR, 0.97; 95% CI 0.94-1.00; P = .04). Mendelian randomization also found that blood pressure, body mass index, and cholesterol metabolism had substantially lesser associations with AS compared with CAD. Pathway and transcriptome enrichment analyses revealed biological processes and tissues relevant for AS development.</p><p><strong>Conclusions and relevance: </strong>This GWAS adjusted for CAD found a distinct genetic risk profile for AS at the single-marker and polygenic level. These findings provide new targets for future AS research.</p>","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11541746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Fat in Frailty Assessment Before Transcatheter Aortic Valve Replacement.","authors":"Alberto Somaschini, Amanda Casirati","doi":"10.1001/jamacardio.2024.3822","DOIUrl":"https://doi.org/10.1001/jamacardio.2024.3822","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":" ","pages":""},"PeriodicalIF":14.8,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}