Pub Date : 2025-10-08DOI: 10.1001/jamacardio.2025.3679
Wilfried Le Goff,Philippe Giral
{"title":"Inquiry Regarding Body Temperature Data in HuMAIN-HFpEF Trial.","authors":"Wilfried Le Goff,Philippe Giral","doi":"10.1001/jamacardio.2025.3679","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3679","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"30 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145246422","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}
Pub Date : 2025-10-08DOI: 10.1001/jamacardio.2025.3682
Ambarish Pandey,Dalane Kitzman
{"title":"Inquiry Regarding Body Temperature Data in HuMAIN-HFpEF Trial-Reply.","authors":"Ambarish Pandey,Dalane Kitzman","doi":"10.1001/jamacardio.2025.3682","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3682","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"158 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145246421","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}
Pub Date : 2025-10-08DOI: 10.1001/jamacardio.2025.3664
Rufan Zhang, Min Seo Kim, Wanqing Yin, Shuangqiao Liao, Xinyu Zhu, Xiong Yang, Kang Yu, Yang Sui, Carolina Roselli, Shaan Khurshid, Qiuli Chen, Yunga A, Hongqiang Zhao, Tingfeng Xu, Xiufeng Huang, Jun Pu, Zhaoqi Liu, Pradeep Natarajan, Guangyao Zhai, Patrick T. Ellinor, Minxian Wang, Akl C. Fahed
ImportanceAtrial fibrillation (AF) has a complex genetic architecture involving common, rare, and somatic variants. The association between these components requires further investigation.ObjectiveTo examine the individual and combined contributions of polygenic, monogenic, and somatic genetic variants to AF incidence, and develop an integrated genomic model (IGM-AF) for improved risk prediction.Design, Setting, and ParticipantsThis cohort study used whole-genome sequence data from participants of the UK Biobank, with follow-up for AF events through hospital records, death registries, and self-report. The UK Biobank recruited participants aged 40 to 69 years in the UK between 2006 and 2010. Study data were analyzed from August 2022 to November 2024.ExposuresIGM-AF comprising an AF polygenic risk score (PRS), a composite rare variant gene set (AFgeneset), and somatic variants associated with clonal hematopoiesis of indeterminate potential (CHIP). Clinical AF risk was estimated using the Cohorts for Heart and Aging Research in Genomic Epidemiology AF (CHARGE-AF) score.Main Outcomes and MeasuresThe primary outcome was hazard ratios (HRs) for 5-year incident AF attributable to PRS, AFgeneset, CHIP, and their interactions. The predictive performance of IGM-AF and its components was quantified using HRs, C statistics, and reclassification indices.ResultsA total of 416 085 individuals (mean [SD] age, 56.6 [8.0] years; 224 642 female [54.0%]) with 30 797 AF cases were included. The PRS (HR per 1 SD, 1.65; 95% CI, 1.63-1.67; P < 1 × 10−8), AFgeneset (HR, 1.63; 95% CI, 1.52-1.75; P = 1.46 × 10−42), and CHIP (HR, 1.26; 95% CI, 1.15-1.38; P = 1.41 × 10−6) were associated with incident AF. The 5-year cumulative incidence of AF was at least 2-fold among individuals having all 3 genetic drivers (common, rare, and somatic drivers) compared with those with only 1 driver. Integration of IGM-AF with a clinical risk model (CHARGE-AF) showed higher predictive performance (C statistic, 0.80; 95% CI, 0.80-0.80) compared with IGM-AF and CHARGE-AF alone. The classification of the at-risk population for AF was improved when IGM-AF was added to CHARGE-AF (net reclassification index, 0.08; 95% CI, 0.07-0.09).Conclusions and RelevanceResults of this cohort study demonstrated the complementary value of common, rare, and somatic variants in shaping genomic AF risk. Leveraging comprehensive genetic information may enhance screening and preventive interventions for AF.
{"title":"Contributions of Common, Rare, and Somatic Genetic Variants to Incidence of Atrial Fibrillation","authors":"Rufan Zhang, Min Seo Kim, Wanqing Yin, Shuangqiao Liao, Xinyu Zhu, Xiong Yang, Kang Yu, Yang Sui, Carolina Roselli, Shaan Khurshid, Qiuli Chen, Yunga A, Hongqiang Zhao, Tingfeng Xu, Xiufeng Huang, Jun Pu, Zhaoqi Liu, Pradeep Natarajan, Guangyao Zhai, Patrick T. Ellinor, Minxian Wang, Akl C. Fahed","doi":"10.1001/jamacardio.2025.3664","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3664","url":null,"abstract":"ImportanceAtrial fibrillation (AF) has a complex genetic architecture involving common, rare, and somatic variants. The association between these components requires further investigation.ObjectiveTo examine the individual and combined contributions of polygenic, monogenic, and somatic genetic variants to AF incidence, and develop an integrated genomic model (IGM-AF) for improved risk prediction.Design, Setting, and ParticipantsThis cohort study used whole-genome sequence data from participants of the UK Biobank, with follow-up for AF events through hospital records, death registries, and self-report. The UK Biobank recruited participants aged 40 to 69 years in the UK between 2006 and 2010. Study data were analyzed from August 2022 to November 2024.ExposuresIGM-AF comprising an AF polygenic risk score (PRS), a composite rare variant gene set (AFgeneset), and somatic variants associated with clonal hematopoiesis of indeterminate potential (CHIP). Clinical AF risk was estimated using the Cohorts for Heart and Aging Research in Genomic Epidemiology AF (CHARGE-AF) score.Main Outcomes and MeasuresThe primary outcome was hazard ratios (HRs) for 5-year incident AF attributable to PRS, AFgeneset, CHIP, and their interactions. The predictive performance of IGM-AF and its components was quantified using HRs, C statistics, and reclassification indices.ResultsA total of 416 085 individuals (mean [SD] age, 56.6 [8.0] years; 224 642 female [54.0%]) with 30 797 AF cases were included. The PRS (HR per 1 SD, 1.65; 95% CI, 1.63-1.67; <jats:italic>P</jats:italic> &amp;lt; 1 × 10<jats:sup>−8</jats:sup>), AFgeneset (HR, 1.63; 95% CI, 1.52-1.75; <jats:italic>P</jats:italic> = 1.46 × 10<jats:sup>−42</jats:sup>), and CHIP (HR, 1.26; 95% CI, 1.15-1.38; <jats:italic>P</jats:italic> = 1.41 × 10<jats:sup>−6</jats:sup>) were associated with incident AF. The 5-year cumulative incidence of AF was at least 2-fold among individuals having all 3 genetic drivers (common, rare, and somatic drivers) compared with those with only 1 driver. Integration of IGM-AF with a clinical risk model (CHARGE-AF) showed higher predictive performance (C statistic, 0.80; 95% CI, 0.80-0.80) compared with IGM-AF and CHARGE-AF alone. The classification of the at-risk population for AF was improved when IGM-AF was added to CHARGE-AF (net reclassification index, 0.08; 95% CI, 0.07-0.09).Conclusions and RelevanceResults of this cohort study demonstrated the complementary value of common, rare, and somatic variants in shaping genomic AF risk. Leveraging comprehensive genetic information may enhance screening and preventive interventions for AF.","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"31 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145241421","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}
Pub Date : 2025-10-08DOI: 10.1001/jamacardio.2025.3676
Veena B. Krishnan
This essay describes one physician-daughter’s experience with self-healing and self-forgiveness with end-of-life care decisions that she made for her own mother and how physicians should have discussions regarding end-of-life care with the family members of their patients, without losing focus of what the patient would have wanted in those final moments.
{"title":"Daughter and Physician—Having to Be Both When Your Parent Dies","authors":"Veena B. Krishnan","doi":"10.1001/jamacardio.2025.3676","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3676","url":null,"abstract":"This essay describes one physician-daughter’s experience with self-healing and self-forgiveness with end-of-life care decisions that she made for her own mother and how physicians should have discussions regarding end-of-life care with the family members of their patients, without losing focus of what the patient would have wanted in those final moments.","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"107 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145241366","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}
Pub Date : 2025-10-01DOI: 10.1001/jamacardio.2025.3248
Dimitri J Maamari,Kiran J Biddinger,Sean J Jurgens,Joel T Rämö,Liam Gaziano,Alice Zheng,Saketh P Challa,Dolphurs Hayes,Carlos A Gongora,Seung Hoan Choi,Kyong-Mi Chang,Philip S Tsao,Zoltan Arany,Paaladinesh Thavendiranathan,Jennifer E Huffman,Akl C Fahed,Amy A Sarma,Tomas G Neilan,Amit V Khera,Patrick T Ellinor,Krishna G Aragam
ImportanceRare monogenic variants linked to nonischemic dilated cardiomyopathy (DCM) are enriched among individuals with secondary cardiomyopathies, such as peripartum (PPCM), alcohol-induced (ACM), and cancer therapy-related (CCM) cardiomyopathies. However, it remains unclear whether a polygenic predisposition to DCM also contributes to these conditions.ObjectiveTo assess the association of a DCM polygenic score with PPCM, ACM, and CCM, and to evaluate the contributions of monogenic and polygenic susceptibilities to these secondary cardiomyopathies.Design, Setting, and ParticipantsThis was a retrospective genetic association analysis of data from the Mass General Brigham (MGB) Biobank (n = 42 137, 2008-2025), with replication in the UK Biobank (n = 295 160, 2005-2010), FinnGen (n = 417 950, 2017-2025), and the Veterans Affairs Million Veteran Program (n = 516 066, 2011-2025). In MGB Biobank, medical records were reviewed to ascertain secondary cardiomyopathy cases and antecedent clinical risk factors.ExposuresDCM polygenic risk score and DCM monogenic variants.Main Outcomes and MeasuresThe primary outcomes were the association of the DCM polygenic risk score with PPCM, ACM, and CCM and the prevalence of monogenic variants and a high polygenic score among individuals with cardiomyopathy.ResultsThe mean (SD) age in the MGB Biobank was 55.7 (17.0) years at enrollment, and 24 551 (58.3%) were female. Across the 4 study cohorts, 3414 individuals with secondary cardiomyopathy were identified, including 70 with PPCM, 2281 with ACM, and 1063 with CCM. The DCM polygenic score was associated with PPCM (odds ratio [OR], 1.82 per SD; 95% CI, 1.43-2.30), ACM (OR, 1.56; 95% CI,1.34-1.82), and CCM (OR, 1.64; 95% CI,1.24-2.15) (all with P < .001). Monogenic variants were enriched but present in 7 of 113 individuals with medical record-reviewed cardiomyopathy in MGB, while 66 had a high polygenic score, which conferred an approximately 3-fold increased odds of cardiomyopathy. Most individuals with cardiomyopathy lacked antecedent clinical risk factors.Conclusions and RelevanceIn this cohort study, individuals with PPCM, ACM, and CCM were enriched for monogenic DCM variants and a high DCM polygenic score, suggesting a shared genetic susceptibility influenced by distinct environmental precipitants. These findings support a shared genetic architecture between secondary cardiomyopathies and DCM, although additional work with larger numbers of individuals with cardiomyopathy is needed to confirm these findings.
{"title":"Polygenic Susceptibility in Peripartum, Alcohol-Induced, and Cancer Therapy-Related Cardiomyopathies.","authors":"Dimitri J Maamari,Kiran J Biddinger,Sean J Jurgens,Joel T Rämö,Liam Gaziano,Alice Zheng,Saketh P Challa,Dolphurs Hayes,Carlos A Gongora,Seung Hoan Choi,Kyong-Mi Chang,Philip S Tsao,Zoltan Arany,Paaladinesh Thavendiranathan,Jennifer E Huffman,Akl C Fahed,Amy A Sarma,Tomas G Neilan,Amit V Khera,Patrick T Ellinor,Krishna G Aragam","doi":"10.1001/jamacardio.2025.3248","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3248","url":null,"abstract":"ImportanceRare monogenic variants linked to nonischemic dilated cardiomyopathy (DCM) are enriched among individuals with secondary cardiomyopathies, such as peripartum (PPCM), alcohol-induced (ACM), and cancer therapy-related (CCM) cardiomyopathies. However, it remains unclear whether a polygenic predisposition to DCM also contributes to these conditions.ObjectiveTo assess the association of a DCM polygenic score with PPCM, ACM, and CCM, and to evaluate the contributions of monogenic and polygenic susceptibilities to these secondary cardiomyopathies.Design, Setting, and ParticipantsThis was a retrospective genetic association analysis of data from the Mass General Brigham (MGB) Biobank (n = 42 137, 2008-2025), with replication in the UK Biobank (n = 295 160, 2005-2010), FinnGen (n = 417 950, 2017-2025), and the Veterans Affairs Million Veteran Program (n = 516 066, 2011-2025). In MGB Biobank, medical records were reviewed to ascertain secondary cardiomyopathy cases and antecedent clinical risk factors.ExposuresDCM polygenic risk score and DCM monogenic variants.Main Outcomes and MeasuresThe primary outcomes were the association of the DCM polygenic risk score with PPCM, ACM, and CCM and the prevalence of monogenic variants and a high polygenic score among individuals with cardiomyopathy.ResultsThe mean (SD) age in the MGB Biobank was 55.7 (17.0) years at enrollment, and 24 551 (58.3%) were female. Across the 4 study cohorts, 3414 individuals with secondary cardiomyopathy were identified, including 70 with PPCM, 2281 with ACM, and 1063 with CCM. The DCM polygenic score was associated with PPCM (odds ratio [OR], 1.82 per SD; 95% CI, 1.43-2.30), ACM (OR, 1.56; 95% CI,1.34-1.82), and CCM (OR, 1.64; 95% CI,1.24-2.15) (all with P < .001). Monogenic variants were enriched but present in 7 of 113 individuals with medical record-reviewed cardiomyopathy in MGB, while 66 had a high polygenic score, which conferred an approximately 3-fold increased odds of cardiomyopathy. Most individuals with cardiomyopathy lacked antecedent clinical risk factors.Conclusions and RelevanceIn this cohort study, individuals with PPCM, ACM, and CCM were enriched for monogenic DCM variants and a high DCM polygenic score, suggesting a shared genetic susceptibility influenced by distinct environmental precipitants. These findings support a shared genetic architecture between secondary cardiomyopathies and DCM, although additional work with larger numbers of individuals with cardiomyopathy is needed to confirm these findings.","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"78 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194882","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}
Pub Date : 2025-10-01DOI: 10.1001/jamacardio.2025.3269
Jong Hyun Jhee,Kyoung Hwa Ha,Dasom Son,Hyeok-Hee Lee,Eun-Jin Kim,Hyeon Chang Kim,Hokyou Lee
ImportancePositive health outcomes of a high cardiovascular health (CVH) score have been demonstrated largely with single CVH assessments in midlife, whereas the association of cumulative CVH during young adulthood with premature cardiovascular disease (CVD) and particularly kidney outcomes remains unclear.ObjectiveTo examine the association of cumulative CVH from 30 to 40 years of age with the risk of CVD and kidney events in midlife.Design, Setting, and ParticipantsThis population-based cohort study used Korean National Health Insurance health screening and claims data on adults aged 40 years without prior CVD or chronic kidney disease (CKD). Data were analyzed from May 1, 2024, to April 30, 2025.ExposureTen-year cumulative CVH score, calculated as the area under the CVH score curve from 30 to 40 years of age (range, 0-100 per visit; cumulative range, 0-1000 points × years), based on the American Heart Association's Life's Essential 8 construct.Main Outcomes and MeasuresThe primary outcomes were CVD events (myocardial infarction, ischemic stroke, heart failure, or cardiovascular death) and kidney events (incident CKD, kidney replacement therapy, or kidney-related death) after 40 years of age among participants.ResultsAmong 241 924 adults (78.1% male [n = 188 871]; all aged 40 years) with 3 or more examination visits (at 30 and 40 years of age and ≥1 visits in between; median number of visits, 8 [IQR, 6-10]), 2748 CVD events and 2085 kidney events occurred over a median follow-up of 9.2 years (IQR, 8.4-10.1). The highest quintile (quintile 5 [Q5]; ≥735 points × years) of cumulative CVH from 30 to 40 years of age was associated with a very low incidence of CVD (0.05% per year; adjusted hazard ratio [HR], 0.27 [95% CI, 0.22-0.32] vs Q1) and kidney events (0.05% per year; adjusted HR, 0.25 [95% CI, 0.21-0.31] vs Q1) in midlife. Each 100-point × year higher cumulative CVH (eg, 10-point higher CVH score × 10 years) was associated with a 34% lower hazard of CVD events and a 35% lower hazard of kidney events. The associations were similar by sex and for event subtypes and remained significant after adjustment for CVH score at 40 years of age or the slope of CVH change.Conclusions and RelevanceThese findings suggest that a higher cumulative CVH score from 30 to 40 years of age was associated with markedly lower risks of CVD and kidney events in midlife, highlighting the importance of sustained primordial prevention efforts throughout early life.
{"title":"Cumulative Cardiovascular Health Score Through Young Adulthood and Cardiovascular and Kidney Outcomes in Midlife.","authors":"Jong Hyun Jhee,Kyoung Hwa Ha,Dasom Son,Hyeok-Hee Lee,Eun-Jin Kim,Hyeon Chang Kim,Hokyou Lee","doi":"10.1001/jamacardio.2025.3269","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3269","url":null,"abstract":"ImportancePositive health outcomes of a high cardiovascular health (CVH) score have been demonstrated largely with single CVH assessments in midlife, whereas the association of cumulative CVH during young adulthood with premature cardiovascular disease (CVD) and particularly kidney outcomes remains unclear.ObjectiveTo examine the association of cumulative CVH from 30 to 40 years of age with the risk of CVD and kidney events in midlife.Design, Setting, and ParticipantsThis population-based cohort study used Korean National Health Insurance health screening and claims data on adults aged 40 years without prior CVD or chronic kidney disease (CKD). Data were analyzed from May 1, 2024, to April 30, 2025.ExposureTen-year cumulative CVH score, calculated as the area under the CVH score curve from 30 to 40 years of age (range, 0-100 per visit; cumulative range, 0-1000 points × years), based on the American Heart Association's Life's Essential 8 construct.Main Outcomes and MeasuresThe primary outcomes were CVD events (myocardial infarction, ischemic stroke, heart failure, or cardiovascular death) and kidney events (incident CKD, kidney replacement therapy, or kidney-related death) after 40 years of age among participants.ResultsAmong 241 924 adults (78.1% male [n = 188 871]; all aged 40 years) with 3 or more examination visits (at 30 and 40 years of age and ≥1 visits in between; median number of visits, 8 [IQR, 6-10]), 2748 CVD events and 2085 kidney events occurred over a median follow-up of 9.2 years (IQR, 8.4-10.1). The highest quintile (quintile 5 [Q5]; ≥735 points × years) of cumulative CVH from 30 to 40 years of age was associated with a very low incidence of CVD (0.05% per year; adjusted hazard ratio [HR], 0.27 [95% CI, 0.22-0.32] vs Q1) and kidney events (0.05% per year; adjusted HR, 0.25 [95% CI, 0.21-0.31] vs Q1) in midlife. Each 100-point × year higher cumulative CVH (eg, 10-point higher CVH score × 10 years) was associated with a 34% lower hazard of CVD events and a 35% lower hazard of kidney events. The associations were similar by sex and for event subtypes and remained significant after adjustment for CVH score at 40 years of age or the slope of CVH change.Conclusions and RelevanceThese findings suggest that a higher cumulative CVH score from 30 to 40 years of age was associated with markedly lower risks of CVD and kidney events in midlife, highlighting the importance of sustained primordial prevention efforts throughout early life.","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"31 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194877","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}
Pub Date : 2025-10-01DOI: 10.1001/jamacardio.2025.3276
Sarah Haeger,Nisha Bansal
{"title":"How Cardiovascular Health in Young Adulthood Affects Kidney and Cardiovascular Risk Later in Life-Lifespan Lessons.","authors":"Sarah Haeger,Nisha Bansal","doi":"10.1001/jamacardio.2025.3276","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3276","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"23 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194880","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}
Pub Date : 2025-09-24DOI: 10.1001/jamacardio.2025.3168
Rohan G Reddy,David A Danford,Shelby Kutty
{"title":"Pathway to Risk Stratification in Tricuspid Regurgitation.","authors":"Rohan G Reddy,David A Danford,Shelby Kutty","doi":"10.1001/jamacardio.2025.3168","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3168","url":null,"abstract":"","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"24 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145127144","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}
ImportanceFor the prevention of sudden cardiac death in myotonic dystrophy type 1 (dystrophia myotonica; DM1), professional practice guidelines recommend pacemaker implantation in asymptomatic patients with a PR interval greater than or equal to 240 milliseconds and/or QRS duration greater than or equal to 120 milliseconds on electrocardiogram (ECG), or a His-ventricular (HV) interval greater than or equal to 70 milliseconds during electrophysiological study (EPS), as class IIa indications.ObjectiveTo determine which of these strategies-ECG or EPS based-is more effective in predicting major bradyarrhythmic events (MBAEs).Design, Setting, and ParticipantsThis was a cohort analysis of retrospectively collected longitudinal data from the DM1 Heart Registry. The setting included cardiology and neurology departments of 6 French university hospitals. Study participants were selected from individuals enrolled in the DM1 Heart Registry between 2000 and 2020. The DM1 Heart Registry includes adults with genetically confirmed DM1. Included patients had a history of first EPS after 1999 and no personal history of advanced atrioventricular block or sustained ventricular tachycardia. Study data were analyzed from January to July 2025.ExposuresECG- and EPS-based strategies.Main Outcomes and MeasuresThe primary outcome was MBAEs, defined as sudden cardiac death, resuscitated cardiac arrest, or second-degree type II or complete atrioventricular block.ResultsOf 1778 adults with genetically confirmed DM1 enrolled in the DM1 Heart Registry, a total of 706 patients (mean [SD] age, 42 [13] years; 359 male [51%]) were included in this study. At baseline, 273 patients (38%) had an HV interval greater than or equal to 70 milliseconds, and 232 (32%) met ECG criteria. Over a median (IQR) follow-up of 5.9 (2.3-9.7) years, 99 patients (14%) experienced an MBAE. In multivariable Cox and joint models incorporating baseline and time-varying values of PR and QRS durations, the HV interval was the only variable significantly associated with the incidence of MBAEs (hazard ratio [HR], 1.77; 95% CI, 1.46-2.16; P < .001 and HR, 1.78; 95% CI, 1.40-2.22; P = .001, respectively). Compared with ECG-based criteria, the EPS criterion proved to be a more reliable (HR, 2.89; 95% CI, 1.92-4.34 vs HR, 1.95; 95% CI, 1.31-2.89) and more sensitive (performance index [SE], 68.35% [6.24%] vs 34.76% [6.47%]) predictor of MBAE and accurately reclassified 28.8% of patients with an MBAE. Lowering the threshold to HV greater than or equal to 65 milliseconds further improved sensitivity (performance index [SE], 90.18% [3.85%]) and net reclassification improvement (33.7%; 95% CI, 19.6%-48.2%) for MBAE prediction.Conclusions and RelevanceIn this cohort of patients with DM1, the HV interval outperformed ECG criteria in predicting MBAEs. An HV threshold greater than or equal to 65 milliseconds may enhance risk stratification for prophylactic pacing.
重要性为预防1型肌强直性营养不良(肌强直性营养不良;DM1)的心源性猝死,专业实践指南建议对无症状的PR间期大于或等于240毫秒和/或心电图QRS持续时间大于或等于120毫秒,或电生理研究(EPS)时HV间期大于或等于70毫秒的患者植入起搏器,作为IIa类适应症。目的确定哪一种策略(ecg或EPS)更有效地预测主要心律失常事件(MBAEs)。设计、环境和参与者:这是一项对DM1心脏登记处回顾性收集的纵向数据的队列分析。设置包括6所法国大学医院的心内科和神经内科。研究参与者是从2000年至2020年间登记在DM1心脏登记处的个人中挑选出来的。DM1心脏登记包括基因证实患有DM1的成年人。纳入的患者1999年后有首次EPS病史,无晚期房室传导阻滞或持续性室性心动过速个人病史。研究数据分析时间为2025年1月至7月。暴露心电图和eps为基础的策略。主要结局和测量主要结局为MBAEs,定义为心源性猝死、复苏性心脏骤停、二级II型或完全房室传导阻滞。结果在DM1心脏登记处登记的1778名遗传确诊DM1的成年人中,共有706名患者(平均[SD]年龄42岁,其中359名男性[51%])被纳入本研究。在基线时,273例患者(38%)的HV间期大于或等于70毫秒,232例患者(32%)符合ECG标准。在中位(IQR)随访5.9(2.3-9.7)年期间,99名患者(14%)经历了MBAE。在包含基线值和时变PR和QRS持续时间值的多变量Cox和联合模型中,HV间隔是唯一与MBAEs发生率显著相关的变量(风险比[HR], 1.77; 95% CI, 1.46-2.16; P <。001, HR为1.78;95% ci, 1.40-2.22;p =。001年,分别)。与基于心电图的标准相比,EPS标准被证明是一个更可靠的MBAE预测指标(HR, 2.89; 95% CI, 1.92-4.34 vs HR, 1.95; 95% CI, 1.31-2.89)和更敏感(表现指数[SE], 68.35% [6.24%] vs 34.76%[6.47%]),并准确地重新分类了28.8%的MBAE患者。将阈值降低到HV大于或等于65毫秒进一步提高了MBAE预测的灵敏度(性能指数[SE], 90.18%[3.85%])和净重分类改善(33.7%;95% CI, 19.6%-48.2%)。结论和相关性在这组DM1患者中,HV间期在预测MBAEs方面优于ECG标准。大于或等于65毫秒的HV阈值可能会增加预防性起搏的风险分层。
{"title":"Electrocardiogram vs Electrophysiological Study and Major Conduction Delays in Myotonic Dystrophy Type 1.","authors":"Nicolas Clementy,Fabien Labombarda,François Grolleau,Vincent Algalarrondo,Guillaume Bassez,Henri-Marc Bécane,Anthony Béhin,Françoise Chapon,Mohamed El Hachmi,Abdallah Fayssoil,Bertrand Fontaine,Rodrigue Garcia,Pascal Laforêt,Arnaud Lazarus,Marion Masingue,Armelle Magot,Yann Pereon,Vincent Probst,Leslie Motté,Malika Saadi,Denis Duboc,Tanya Stojkovic,Raphaël Porcher,Karim Wahbi","doi":"10.1001/jamacardio.2025.3055","DOIUrl":"https://doi.org/10.1001/jamacardio.2025.3055","url":null,"abstract":"ImportanceFor the prevention of sudden cardiac death in myotonic dystrophy type 1 (dystrophia myotonica; DM1), professional practice guidelines recommend pacemaker implantation in asymptomatic patients with a PR interval greater than or equal to 240 milliseconds and/or QRS duration greater than or equal to 120 milliseconds on electrocardiogram (ECG), or a His-ventricular (HV) interval greater than or equal to 70 milliseconds during electrophysiological study (EPS), as class IIa indications.ObjectiveTo determine which of these strategies-ECG or EPS based-is more effective in predicting major bradyarrhythmic events (MBAEs).Design, Setting, and ParticipantsThis was a cohort analysis of retrospectively collected longitudinal data from the DM1 Heart Registry. The setting included cardiology and neurology departments of 6 French university hospitals. Study participants were selected from individuals enrolled in the DM1 Heart Registry between 2000 and 2020. The DM1 Heart Registry includes adults with genetically confirmed DM1. Included patients had a history of first EPS after 1999 and no personal history of advanced atrioventricular block or sustained ventricular tachycardia. Study data were analyzed from January to July 2025.ExposuresECG- and EPS-based strategies.Main Outcomes and MeasuresThe primary outcome was MBAEs, defined as sudden cardiac death, resuscitated cardiac arrest, or second-degree type II or complete atrioventricular block.ResultsOf 1778 adults with genetically confirmed DM1 enrolled in the DM1 Heart Registry, a total of 706 patients (mean [SD] age, 42 [13] years; 359 male [51%]) were included in this study. At baseline, 273 patients (38%) had an HV interval greater than or equal to 70 milliseconds, and 232 (32%) met ECG criteria. Over a median (IQR) follow-up of 5.9 (2.3-9.7) years, 99 patients (14%) experienced an MBAE. In multivariable Cox and joint models incorporating baseline and time-varying values of PR and QRS durations, the HV interval was the only variable significantly associated with the incidence of MBAEs (hazard ratio [HR], 1.77; 95% CI, 1.46-2.16; P < .001 and HR, 1.78; 95% CI, 1.40-2.22; P = .001, respectively). Compared with ECG-based criteria, the EPS criterion proved to be a more reliable (HR, 2.89; 95% CI, 1.92-4.34 vs HR, 1.95; 95% CI, 1.31-2.89) and more sensitive (performance index [SE], 68.35% [6.24%] vs 34.76% [6.47%]) predictor of MBAE and accurately reclassified 28.8% of patients with an MBAE. Lowering the threshold to HV greater than or equal to 65 milliseconds further improved sensitivity (performance index [SE], 90.18% [3.85%]) and net reclassification improvement (33.7%; 95% CI, 19.6%-48.2%) for MBAE prediction.Conclusions and RelevanceIn this cohort of patients with DM1, the HV interval outperformed ECG criteria in predicting MBAEs. An HV threshold greater than or equal to 65 milliseconds may enhance risk stratification for prophylactic pacing.","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"21 1","pages":""},"PeriodicalIF":24.0,"publicationDate":"2025-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145127168","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}