Heart最新文献

{"title":"Genetic variants associated with cardiac hypertrophy-related sudden cardiac death and cardiovascular outcomes in a Finnish population.","authors":"Anne Doedens, Sini Skarp, Lauri Holmström, Lasse Pakanen, Samu Saarimäki, Risto Kerkelä, Katri Pylkäs, Heikki V Huikuri, Juhani Junttila","doi":"10.1136/heartjnl-2024-324623","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324623","url":null,"abstract":"<p><strong>Background: </strong>Hypertrophic cardiomyopathy is a common cause of non-ischaemic sudden cardiac death (SCD). Left ventricular hypertrophy (LVH) without cardiomyopathy-related myocardial disarray is a common autopsy finding and is often associated with prior hypertension in SCD subjects. Our aim was to investigate novel rare gene variants among SCD subjects with presumably hypertension-related LVH and myocardial fibrosis at autopsy.</p><p><strong>Methods: </strong>Whole exome sequencing was used to study rare variants (minor allele frequency<0.005) estimated to be deleterious in 96 non-ischaemic SCD subjects with presumably hypertension-related LVH and myocardial fibrosis. Associations of the identified variants with cardiac disease endpoints were replicated in the Finnish national genetic study (FinnGen) dataset.</p><p><strong>Results: </strong>18 variants were estimated likely to affect protein function and 14 of these were associated with cardiomyopathies, heart failure, conduction abnormalities, hypertension and/or cardiac arrest in Finnish population (FinnGen). Three of the variants were classified as pathogenic or likely pathogenic. These include the splice site variant NM_000449.3:c.234-1G>A in regulatory factor X5 and frameshift variants NM_000449.3:c.234-1G>A in dehydrogenase/reductase 7C and NM_015873.3:c.1164del in villin like.</p><p><strong>Conclusions: </strong>We identified rare deleterious variants associated with LVH in SCD subjects. Several of the identified rare variants associated with cardiovascular endpoints including heart failure, cardiomyopathies, cardiac arrest and hypertension in general population.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142371627","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}

{"title":"Too fast, too furious","authors":"Nayani Makkar, Saravana Arasan, Narayanan Namboodiri","doi":"10.1136/heartjnl-2024-324724","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324724","url":null,"abstract":"A woman in her 30s, a case of rheumatic mitral stenosis status post balloon mitral valvuloplasty 15 years prior, presented to urgent care with palpitations and dyspnoea for 1 week. She was noted to be in heart failure, with hypotension and tachycardia. Initial assessment with electrocardiography revealed a regular narrow complex tachycardia with 2:1 atrioventricular (AV) relationship, no clear isoelectric baseline and positive P waves in lead V1 consistent with an atrial flutter of left atrial origin with a rapid ventricular rate (~160/min) (figure 1A). Echocardiography demonstrated severe calcific mitral stenosis with pulmonary hypertension. With decompensated heart failure and adequate prior anticoagulation, the patient underwent direct current synchronised …","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142252154","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}

{"title":"A rare case of atrial flutter and a cystic mass in the left atrium.","authors":"Huan Cen, Sinan Chen, Pengtao Sun","doi":"10.1136/heartjnl-2024-324714","DOIUrl":"10.1136/heartjnl-2024-324714","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503068/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345139","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}

{"title":"Motor vehicle crash risk after cardioverter-defibrillator implantation: a population-based cohort study.","authors":"John A Staples, Daniel Daly-Grafstein, Isaac Robinson, Mayesha Khan, Shannon Erdelyi, Nathaniel M Hawkins, Herbert Chan, Christian Steinberg, Santabhanu Chakrabarti, Andrew D Krahn, Jeffrey R Brubacher","doi":"10.1136/heartjnl-2024-324541","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324541","url":null,"abstract":"<p><strong>Background: </strong>Limited empirical evidence informs driving restrictions after implantable cardioverter-defibrillator (ICD) implantation. We sought to evaluate real-world motor vehicle crash risks after ICD implantation.</p><p><strong>Methods: </strong>We performed a retrospective cohort study using 22 years of population-based health and driving data from British Columbia, Canada (2019 population: 5 million). Individuals with a first ICD implantation between 1997 and 2019 were age and sex matched to three controls. The primary outcome was involvement as a driver in a crash that was attended by police or that resulted in an insurance claim. We used survival analysis to compare crash risk in the first 6 months after ICD implantation to crash risk during a corresponding 6-month interval among controls.</p><p><strong>Results: </strong>A crash occurred prior to a censoring event for 296 of 9373 individuals with ICDs and for 1077 of 28 119 controls, suggesting ICD implantation was associated with a reduced risk of subsequent crash (crude incidence rate, 8.5 vs 10.5 crashes per 100 person-years; adjusted HR (aHR), 0.71; 95% CI 0.61 to 0.83; p<0.001). Results were similar after stratification by primary versus secondary prevention ICD. Relative to controls, ICD patients had more traffic contraventions in the 3 years prior to ICD implantation but fewer contraventions in the 6 months after implantation, suggesting individuals reduced their road exposure (hours or miles driven per week) or drove more conservatively after ICD implantation.</p><p><strong>Conclusions: </strong>Crash risk is lower in the 6 months after ICD implantation than among matched controls, likely because individuals reduced their road exposure in order to comply with contemporary postimplantation driving restrictions. Policymakers might consider liberalisation of postimplantation driving restrictions while monitoring crash rates.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142345138","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}

{"title":"Genetic syndromes associated with congenital heart disease.","authors":"Valeria E Duarte, Michael N Singh","doi":"10.1136/heartjnl-2023-323126","DOIUrl":"10.1136/heartjnl-2023-323126","url":null,"abstract":"<p><p>Congenital heart defects are the most common type of birth defect, affecting 1% of live births. The underlying cause of congenital heart disease is frequently unknown. However, advances in human genetics and genome technologies have helped expand congenital heart disease pathogenesis knowledge during the last few decades. When the cardiac defects are part of a genetic syndrome, they are associated with extracardiac conditions and require multidisciplinary care and surveillance. Some genetic syndromes can have subtle clinical findings and remain undiagnosed well into adulthood. Each syndrome is associated with specific congenital and acquired comorbidities and a particular clinical risk profile. A timely diagnosis is essential for risk stratification, surveillance of associated conditions and counselling, particularly during family planning. However, genetic testing and counselling indications can be challenging to identify in clinical practice. This document intends to provide an overview of the most clinically relevant syndromes to consider, focusing on the phenotype and genotype diagnosis, outcome data, clinical guidelines and implications for care.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138470204","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}

{"title":"Universal definition of myocardial infarction: what must we know? What is next?","authors":"Ben Cohen, David Hasdai","doi":"10.1136/heartjnl-2024-324593","DOIUrl":"10.1136/heartjnl-2024-324593","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142106736","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}

{"title":"British Cardiovascular Society/British Heart Foundation/British Atherosclerosis Society/British Society for Cardiovascular Research Young Investigator Award 2024.","authors":"Aish Sinha, Nasser Alshahrani, Kathryn Anne McGurk, Ashwin Roy, Dario Sesia, Pok-Tin Tang","doi":"10.1136/heartjnl-2024-324554","DOIUrl":"10.1136/heartjnl-2024-324554","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046568","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}

{"title":"Decoding proteins in cardiometabolic disease: the power and challenges of proteomics.","authors":"Nicolas Girerd, Luca Monzo","doi":"10.1136/heartjnl-2024-324722","DOIUrl":"10.1136/heartjnl-2024-324722","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906406","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}

{"title":"Associations between circulating proteins and cardiometabolic diseases: a systematic review and meta-analysis of observational and Mendelian randomisation studies.","authors":"Ting Wu, Yalei Ke, Yingtao Li, Zhiyu Wu, Jun Lv, Canqing Yu, Dianjianyi Sun, Pang Yao, Christiana Kartsonaki, Zhengming Chen, Liming Li, Yuanjie Pang","doi":"10.1136/heartjnl-2024-324050","DOIUrl":"10.1136/heartjnl-2024-324050","url":null,"abstract":"<p><strong>Background: </strong>Integration of large proteomics and genetic data in population-based studies can provide insights into discovery of novel biomarkers and potential therapeutic targets for cardiometabolic diseases (CMD). We aimed to synthesise existing evidence on the observational and genetic associations between circulating proteins and CMD.</p><p><strong>Methods: </strong>PubMed, Embase and Web of Science were searched until July 2023 for potentially relevant prospective observational and Mendelian randomisation (MR) studies investigating associations between circulating proteins and CMD, including coronary heart disease, stroke, type 2 diabetes, heart failure, atrial fibrillation and atherosclerosis. Two investigators independently extracted study characteristics using a standard form and pooled data using random effects models.</p><p><strong>Results: </strong>50 observational, 25 MR and 10 studies performing both analyses were included, involving 26 414 160 non-overlapping participants. Meta-analysis of observational studies revealed 560 proteins associated with CMD, of which 133 proteins were associated with ≥2 CMDs (ie, pleiotropic). There were 245 potentially causal protein biomarkers identified in MR pooled results, involving 23 pleiotropic proteins. IL6RA and MMP12 were each causally associated with seven diseases. 22 protein-disease pairs showed directionally concordant associations in observational and MR pooled estimates. Addition of protein biomarkers to traditional clinical models modestly improved the accuracy of predicting incident CMD, with the highest improvement for heart failure (ΔC-index ~0.2). Of the 245 potentially causal proteins (291 protein-disease pairs), 3 pairs were validated by evidence of drug development from existing drug databases, 288 pairs lacked evidence of drug development and 66 proteins were drug targets approved for other indications.</p><p><strong>Conclusions: </strong>Combined analyses of observational and genetic studies revealed the potential causal role of several proteins in the aetiology of CMD. Novel protein biomarkers are promising targets for drug development and risk stratification.</p><p><strong>Prospero registration number: </strong>CRD42022350327.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859537","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}

{"title":"Treating iron deficiency in patients with heart failure: what, why, when, how, where and who.","authors":"Fraser J Graham, Kaushik Guha, John G Cleland, Paul R Kalra","doi":"10.1136/heartjnl-2022-322030","DOIUrl":"10.1136/heartjnl-2022-322030","url":null,"abstract":"<p><p>For patients with heart failure and reduced or mildly reduced left ventricular ejection fraction, iron deficiency is common and associated with more severe symptoms, worse quality of life and an increased risk of hospitalisations and death. Iron deficiency can be swiftly, effectively and safely treated by administering intravenous iron, either as ferric carboxymaltose or ferric derisomaltose, which improves patient well-being and reduces the risk of hospitalisations including those for heart failure. However, the current definition of iron deficiency in heart failure has serious flaws. A serum ferritin <100 µg/L does not identify patients more likely to respond to intravenous iron. In contrast, patients with transferrin saturations <20%, most of whom are also anaemic, are more likely to have a beneficial response to intravenous iron. In this review, we summarise the available evidence for use of intravenous iron in heart failure and provide recommendations for targeted future research and practical considerations for the general cardiologist.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":null,"pages":null},"PeriodicalIF":5.1,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11503115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004088","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}