Pub Date : 2025-01-29DOI: 10.1136/heartjnl-2024-325242
Marc D Lemoine, Larissa Fabritz
{"title":"Improving antiarrhythmic therapy for patients with atrial fibrillation using common genetic variants.","authors":"Marc D Lemoine, Larissa Fabritz","doi":"10.1136/heartjnl-2024-325242","DOIUrl":"10.1136/heartjnl-2024-325242","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":"145-146"},"PeriodicalIF":5.1,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853632","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}
Pub Date : 2025-01-29DOI: 10.1136/heartjnl-2024-324160
Huan Wang, Chuang Gao, Magalie Guignard-Duff, Christian Cole, Christopher Hall, Resham Baruah, Shikta Das, He Gao, Jil Billy Mamza, Chim C Lang, Ify R Mordi
Background: Early heart failure (HF) diagnosis is crucial to ensure that optimal guideline-directed medical therapy (GDMT) is administered to reduce morbidity and mortality. Limited access to echocardiography could lead to a later diagnosis for patients, for example, during an HF hospitalisation (hHF). This study aimed to compare the incidence and outcomes of inpatient versus outpatient diagnosis of HF.
Methods: Electronic health records were linked to echocardiography data between 2015 and 2021 from patients in Tayside, Scotland (population~450 000). Incident HF diagnosis was classified into inpatient or outpatient and stratified by ejection fraction (EF). A non-HF comparator group with normal left ventricular function was also defined. The primary outcome was time to cardiovascular death or hHF within 12 months of diagnosis.
Results: In total, 5223 individuals were identified, 4231 with HF (1115 heart failure with reduced ejection fraction (HFrEF), 666 heart failure with mildly reduced ejection fraction, 1402 heart failure with preserved ejection fraction and 1048 HF with unknown EF) and 992 with non-HF comparators. Of the 4231 HF patients, 2169 (51.3%) were diagnosed as inpatients. The primary outcome was observed in 1193 individuals with HF (28.1%) and 32 (3.2%) non-HF comparators and was significantly more likely to occur in individuals diagnosed as inpatients than outpatients (809 vs 384 events; adjusted HR: 1.62 (1.39-1.89), p<0.001), and this was consistent regardless of EF. For HFrEF patients first diagnosed as inpatients, those discharged on ≥2 GDMT had a reduced incidence of the primary outcome compared with those discharged on <2 GDMT (303 vs 175 events; adjusted HR: 0.72 (0.55-0.94), p=0.016).
Conclusions: Individuals whose first presentation was a HF hospitalisation had a significantly worse outcome than those who were diagnosed in the community. Among hospitalised individuals, higher use of GDMT was associated with improved outcomes. Our results highlight the importance of improving diagnostic pathways to allow for earlier identification and treatment of HF.
{"title":"Inpatient versus outpatient diagnosis of heart failure across the spectrum of ejection fraction: a population cohort study.","authors":"Huan Wang, Chuang Gao, Magalie Guignard-Duff, Christian Cole, Christopher Hall, Resham Baruah, Shikta Das, He Gao, Jil Billy Mamza, Chim C Lang, Ify R Mordi","doi":"10.1136/heartjnl-2024-324160","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324160","url":null,"abstract":"<p><strong>Background: </strong>Early heart failure (HF) diagnosis is crucial to ensure that optimal guideline-directed medical therapy (GDMT) is administered to reduce morbidity and mortality. Limited access to echocardiography could lead to a later diagnosis for patients, for example, during an HF hospitalisation (hHF). This study aimed to compare the incidence and outcomes of inpatient versus outpatient diagnosis of HF.</p><p><strong>Methods: </strong>Electronic health records were linked to echocardiography data between 2015 and 2021 from patients in Tayside, Scotland (population~450 000). Incident HF diagnosis was classified into inpatient or outpatient and stratified by ejection fraction (EF). A non-HF comparator group with normal left ventricular function was also defined. The primary outcome was time to cardiovascular death or hHF within 12 months of diagnosis.</p><p><strong>Results: </strong>In total, 5223 individuals were identified, 4231 with HF (1115 heart failure with reduced ejection fraction (HFrEF), 666 heart failure with mildly reduced ejection fraction, 1402 heart failure with preserved ejection fraction and 1048 HF with unknown EF) and 992 with non-HF comparators. Of the 4231 HF patients, 2169 (51.3%) were diagnosed as inpatients. The primary outcome was observed in 1193 individuals with HF (28.1%) and 32 (3.2%) non-HF comparators and was significantly more likely to occur in individuals diagnosed as inpatients than outpatients (809 vs 384 events; adjusted HR: 1.62 (1.39-1.89), p<0.001), and this was consistent regardless of EF. For HFrEF patients first diagnosed as inpatients, those discharged on ≥2 GDMT had a reduced incidence of the primary outcome compared with those discharged on <2 GDMT (303 vs 175 events; adjusted HR: 0.72 (0.55-0.94), p=0.016).</p><p><strong>Conclusions: </strong>Individuals whose first presentation was a HF hospitalisation had a significantly worse outcome than those who were diagnosed in the community. Among hospitalised individuals, higher use of GDMT was associated with improved outcomes. Our results highlight the importance of improving diagnostic pathways to allow for earlier identification and treatment of HF.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065178","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}
Pub Date : 2025-01-29DOI: 10.1136/heartjnl-2024-325076
Enosh Katta, Karan Kalani, A Shaheer Ahmed
{"title":"Decoding dyspnoea: fluoroscopy of prosthetic valve dynamics in a young patient.","authors":"Enosh Katta, Karan Kalani, A Shaheer Ahmed","doi":"10.1136/heartjnl-2024-325076","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-325076","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":"111 4","pages":"165-190"},"PeriodicalIF":5.1,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065108","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}
Pub Date : 2025-01-29DOI: 10.1136/heartjnl-2024-325367
Carissa Bonner, Jenny Doust
{"title":"Heart age tools are good for raising awareness, but bad for shared decision-making about medication.","authors":"Carissa Bonner, Jenny Doust","doi":"10.1136/heartjnl-2024-325367","DOIUrl":"10.1136/heartjnl-2024-325367","url":null,"abstract":"","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":"143-144"},"PeriodicalIF":5.1,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853631","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}
Pub Date : 2025-01-23DOI: 10.1136/heartjnl-2024-324805
Alireza Malektojari, Rosa Tahmasebipour, Maedeh Fadaeihosein, Sara Ghazizadeh, Fatemeh Ardali, Bahareh Haghighat, Fatemeh Keshavarz, Yalda Yousefi Azari, Fatemeh Javdan, Elahe Shahsavari, Mohammad Hamed Ersi, Shahin Abbaszadeh, Rami Al-Jafar, Abbas Dehghan, Tyler Pitre
Background: Pericardial complications following cardiac surgery are common and debilitating, significantly impacting patients' survival. We performed this network meta-analysis to identify the most effective and safest preventions and treatments for pericardial complications following cardiac surgery.
Methods: We systematically searched PubMed/MEDLINE, EMBASE and Cochrane CENTRAL from inception to 22 January 2024. Pairs of reviewers screened eligible studies. They included randomised controlled trials that enrolled adults undergoing major cardiac surgeries and reported postpericardiotomy syndrome, pericardial effusion and pericarditis as primary or secondary outcomes. We summarised the effects of interventions using relative risks and corresponding 95% CIs. We performed a frequentist random-effects network meta-analysis using the restricted maximum likelihood estimator.
Results: We included 39 trials that enrolled a total of 6419 participants. Our network meta-analysis demonstrates colchicine reduces the risk of postpericardiotomy syndrome (RR 0.53, 95% CI 0.38 to 0.73). Beta-blockers probably prevent atrial fibrillation with a large magnitude of effect (RR 0.4, 95% CI 0.20 to 0.81) and may prevent postoperative pericarditis (RR 0.66, 95% CI 0.45 to 0.97) compared with control. Fish oil (RR 0.28, 95% CI 0.09 to 0.90), non-steroidal anti-inflammatory drugs (RR 0.37, 95% CI 0.23 to 0.59) and colchicine (RR 0.37, 95% CI 0.23 to 0.59) may reduce the risk of postoperative atrial fibrillation. We found no evidence of a difference in the risk of pleural effusion, all-cause mortality, serious adverse events or postoperative ICU stay.
Conclusions: The results of our study highly recommend colchicine use to reduce the risk of the postpericardiotomy syndrome and beta-blocker use to reduce postoperative atrial fibrillation. Additionally, our study suggests that further research is needed to investigate other interventions and to evaluate newly proposed interventions in large, high-quality trials, as the current evidence for some interventions is relatively weak.
{"title":"Pharmacological preventions and treatments for pericardial complications after open heart surgeries.","authors":"Alireza Malektojari, Rosa Tahmasebipour, Maedeh Fadaeihosein, Sara Ghazizadeh, Fatemeh Ardali, Bahareh Haghighat, Fatemeh Keshavarz, Yalda Yousefi Azari, Fatemeh Javdan, Elahe Shahsavari, Mohammad Hamed Ersi, Shahin Abbaszadeh, Rami Al-Jafar, Abbas Dehghan, Tyler Pitre","doi":"10.1136/heartjnl-2024-324805","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324805","url":null,"abstract":"<p><strong>Background: </strong>Pericardial complications following cardiac surgery are common and debilitating, significantly impacting patients' survival. We performed this network meta-analysis to identify the most effective and safest preventions and treatments for pericardial complications following cardiac surgery.</p><p><strong>Methods: </strong>We systematically searched PubMed/MEDLINE, EMBASE and Cochrane CENTRAL from inception to 22 January 2024. Pairs of reviewers screened eligible studies. They included randomised controlled trials that enrolled adults undergoing major cardiac surgeries and reported postpericardiotomy syndrome, pericardial effusion and pericarditis as primary or secondary outcomes. We summarised the effects of interventions using relative risks and corresponding 95% CIs. We performed a frequentist random-effects network meta-analysis using the restricted maximum likelihood estimator.</p><p><strong>Results: </strong>We included 39 trials that enrolled a total of 6419 participants. Our network meta-analysis demonstrates colchicine reduces the risk of postpericardiotomy syndrome (RR 0.53, 95% CI 0.38 to 0.73). Beta-blockers probably prevent atrial fibrillation with a large magnitude of effect (RR 0.4, 95% CI 0.20 to 0.81) and may prevent postoperative pericarditis (RR 0.66, 95% CI 0.45 to 0.97) compared with control. Fish oil (RR 0.28, 95% CI 0.09 to 0.90), non-steroidal anti-inflammatory drugs (RR 0.37, 95% CI 0.23 to 0.59) and colchicine (RR 0.37, 95% CI 0.23 to 0.59) may reduce the risk of postoperative atrial fibrillation. We found no evidence of a difference in the risk of pleural effusion, all-cause mortality, serious adverse events or postoperative ICU stay.</p><p><strong>Conclusions: </strong>The results of our study highly recommend colchicine use to reduce the risk of the postpericardiotomy syndrome and beta-blocker use to reduce postoperative atrial fibrillation. Additionally, our study suggests that further research is needed to investigate other interventions and to evaluate newly proposed interventions in large, high-quality trials, as the current evidence for some interventions is relatively weak.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028641","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}
Pub Date : 2025-01-23DOI: 10.1136/heartjnl-2024-324928
Hyun-Jung Lee, Seo-Yeon Gwak, Kyu Kim, Iksung Cho, Chi Young Shim, Jong-Won Ha, Geu-Ru Hong
Background: High-intensity physical activity has traditionally been discouraged in patients with hypertrophic cardiomyopathy due to concerns about triggering sudden cardiac death. However, current guidelines adopt a more liberal stance, and evidence on risk factors for exercise-related sudden cardiac death remains limited. This study investigated the clinical, morphological and genetic factors associated with high-intensity physical activity-related sudden cardiac death in hypertrophic cardiomyopathy.
Methods: This retrospective study included 75 patients with documented sudden cardiac death events from a cohort of 2619 patients with hypertrophic cardiomyopathy evaluated between 2005 and 2023. Physical activity levels at the time of the sudden cardiac death event were classified as high-intensity (≥6 metabolic equivalents) or low-intensity to moderate-intensity. Clinical and imaging characteristics, cardiopulmonary exercise test findings and genetic data were compared between the groups.
Results: Among the 75 patients, 15 (20%) experienced sudden cardiac death events during high-intensity activity. These patients were younger than those with events during low-intensity or moderate-intensity activity (median age: 25 (IQR 16-43) years vs 56 (48-64) years, p<0.001). High-intensity activity-related events were associated with higher European Society of Cardiology sudden cardiac death risk scores (median 4.9 vs 2.4, p=0.023) and fewer ventricular arrhythmias during exercise testing. However, there were no differences in the degree of left ventricular hypertrophy, left ventricular outflow tract obstruction, left ventricular systolic or diastolic function or genetic findings between groups. In multivariable analysis, younger age was the only independent risk factor of high-intensity activity-related sudden cardiac death events. Recurrent events in patients who survived initial high-intensity activity-related sudden cardiac death were triggered by subsequent high-intensity activity.
Conclusions: High-intensity physical activity-related sudden cardiac death in hypertrophic cardiomyopathy is associated with younger age; however, in this small cohort, no associations were found with traditional risk factors, including left ventricular hypertrophy or obstructive physiology.
{"title":"Factors associated with high-intensity physical activity and sudden cardiac death in hypertrophic cardiomyopathy.","authors":"Hyun-Jung Lee, Seo-Yeon Gwak, Kyu Kim, Iksung Cho, Chi Young Shim, Jong-Won Ha, Geu-Ru Hong","doi":"10.1136/heartjnl-2024-324928","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324928","url":null,"abstract":"<p><strong>Background: </strong>High-intensity physical activity has traditionally been discouraged in patients with hypertrophic cardiomyopathy due to concerns about triggering sudden cardiac death. However, current guidelines adopt a more liberal stance, and evidence on risk factors for exercise-related sudden cardiac death remains limited. This study investigated the clinical, morphological and genetic factors associated with high-intensity physical activity-related sudden cardiac death in hypertrophic cardiomyopathy.</p><p><strong>Methods: </strong>This retrospective study included 75 patients with documented sudden cardiac death events from a cohort of 2619 patients with hypertrophic cardiomyopathy evaluated between 2005 and 2023. Physical activity levels at the time of the sudden cardiac death event were classified as high-intensity (≥6 metabolic equivalents) or low-intensity to moderate-intensity. Clinical and imaging characteristics, cardiopulmonary exercise test findings and genetic data were compared between the groups.</p><p><strong>Results: </strong>Among the 75 patients, 15 (20%) experienced sudden cardiac death events during high-intensity activity. These patients were younger than those with events during low-intensity or moderate-intensity activity (median age: 25 (IQR 16-43) years vs 56 (48-64) years, p<0.001). High-intensity activity-related events were associated with higher European Society of Cardiology sudden cardiac death risk scores (median 4.9 vs 2.4, p=0.023) and fewer ventricular arrhythmias during exercise testing. However, there were no differences in the degree of left ventricular hypertrophy, left ventricular outflow tract obstruction, left ventricular systolic or diastolic function or genetic findings between groups. In multivariable analysis, younger age was the only independent risk factor of high-intensity activity-related sudden cardiac death events. Recurrent events in patients who survived initial high-intensity activity-related sudden cardiac death were triggered by subsequent high-intensity activity.</p><p><strong>Conclusions: </strong>High-intensity physical activity-related sudden cardiac death in hypertrophic cardiomyopathy is associated with younger age; however, in this small cohort, no associations were found with traditional risk factors, including left ventricular hypertrophy or obstructive physiology.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028639","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}
Pub Date : 2025-01-22DOI: 10.1136/heartjnl-2024-324629
Chenqing Wang, David Christiani, Ali Al-Hemoud, Barrak Alahmad
Background: Kuwait, one of the world's hottest countries, faces increasing temperatures due to climate change. With a large migrant population predominantly employed in physically demanding jobs, the exact effects and burdens of temperature exposure on cardiovascular risk among this population remain unknown. This study aimed to investigate the relationship between temperature and myocardial infarction (MI) risk among migrants in Kuwait.
Methods: MI hospital admissions data from 17 public hospitals in Kuwait from 2000 to 2017 were collected. Meteorological data, including daily temperatures and humidity, were obtained from monitoring stations. A time series analysis was conducted to examine the association between temperature and MI hospitalisation. A distributed lag non-linear model was used to study the lagged association of temperature. Seasonality, relative humidity and day of the week were adjusted for in the model. Excess hospitalisations attributed to temperature variations were calculated.
Results: A total of 26 839 MI cases were examined. The optimal temperature with the lowest MI cases was 39.2°C. Elevated MI risks were associated with both hot and cold temperatures above or below this threshold, particularly at shorter lag days. Hot temperatures showed a pronounced association at lag 0, while cold temperatures demonstrated a weak effect at lag 7. The cumulative risk of MI for cold temperatures was higher than the risk for hot temperatures. Annually, 300 (20.1%) MI cases can be attributed to all cool days (below 39.2°C). Very hot days (above 39.2°C) contributed to about 9 (0.6%) MI cases each year among migrants in Kuwait.
Conclusion: The study revealed a substantial burden of both hot and cold ambient temperatures and the risk of MI at shorter lag days among the migrant population in Kuwait. This study provides valuable insights for government officials to mitigate exposure to extreme temperatures, especially in occupational settings.
{"title":"Temperature and myocardial infarction among migrants in Kuwait.","authors":"Chenqing Wang, David Christiani, Ali Al-Hemoud, Barrak Alahmad","doi":"10.1136/heartjnl-2024-324629","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324629","url":null,"abstract":"<p><strong>Background: </strong>Kuwait, one of the world's hottest countries, faces increasing temperatures due to climate change. With a large migrant population predominantly employed in physically demanding jobs, the exact effects and burdens of temperature exposure on cardiovascular risk among this population remain unknown. This study aimed to investigate the relationship between temperature and myocardial infarction (MI) risk among migrants in Kuwait.</p><p><strong>Methods: </strong>MI hospital admissions data from 17 public hospitals in Kuwait from 2000 to 2017 were collected. Meteorological data, including daily temperatures and humidity, were obtained from monitoring stations. A time series analysis was conducted to examine the association between temperature and MI hospitalisation. A distributed lag non-linear model was used to study the lagged association of temperature. Seasonality, relative humidity and day of the week were adjusted for in the model. Excess hospitalisations attributed to temperature variations were calculated.</p><p><strong>Results: </strong>A total of 26 839 MI cases were examined. The optimal temperature with the lowest MI cases was 39.2°C. Elevated MI risks were associated with both hot and cold temperatures above or below this threshold, particularly at shorter lag days. Hot temperatures showed a pronounced association at lag 0, while cold temperatures demonstrated a weak effect at lag 7. The cumulative risk of MI for cold temperatures was higher than the risk for hot temperatures. Annually, 300 (20.1%) MI cases can be attributed to all cool days (below 39.2°C). Very hot days (above 39.2°C) contributed to about 9 (0.6%) MI cases each year among migrants in Kuwait.</p><p><strong>Conclusion: </strong>The study revealed a substantial burden of both hot and cold ambient temperatures and the risk of MI at shorter lag days among the migrant population in Kuwait. This study provides valuable insights for government officials to mitigate exposure to extreme temperatures, especially in occupational settings.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028643","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}
Pub Date : 2025-01-21DOI: 10.1136/heartjnl-2024-324525
Valentina Alice Rossi, Matteo Palazzini, Enrico Ammirati, Alessio Gasperetti, Martin Grubler, Corinna Brunckhorst, Robert Manka, Andreas Giannopoulos, Felix C Tanner, Argelia Medeiros-Domingo, Piero Gentile, Manuela Bramerio, Dörthe Schmidt, Claudio Tondo, Andreas J Flammer, Frank Ruschitzka, Firat Duru, Ardan Muammer Saguner
Background: Cardiac sarcoidosis (CS) is a chronic inflammatory disease characterised by non-caseating granulomas, while arrhythmogenic cardiomyopathy (ACM) is a genetic condition mainly affecting desmosomal proteins. The coexistence of CS and genetic variants associated with ACM is not well understood, creating challenges in diagnosis and management. This study aimed to describe the clinical, imaging and genetic features of patients with both conditions.
Methods: This was a multicentre retrospective case-control study involving three groups of patients: those with biopsy-proven CS and pathogenic or likely pathogenic genetic variants linked to ACM (n=5); patients with genetic variants but no CS (n=5); and patients with CS without genetic variants (n=5). Clinical data, including symptoms, electrocardiographic findings and imaging results from echocardiography, cardiac magnetic resonance and positron-emission tomography, were analysed.
Results: Patients with CS and genetic variants were more likely to exhibit atrioventricular block (100%), PR prolongation (204 ms vs 160 ms) and paroxysmal atrial fibrillation (80%) compared with those with genetic variants alone (0% for both). Imaging findings showed a higher prevalence of septal involvement in patients with both conditions (80%) than in those with genetic variants alone (20%). No significant differences were observed between patients with CS and genetic variants and those with CS without genetic variants. The genetic variants identified included variants in PKP2 (40%), DSG2 (20%), DSP (20%) and TTN (20%).
Conclusions: The coexistence of CS and ACM-associated genetic variants is associated with distinct clinical features, including PR prolongation, AVB1°, septal involvement and paroxysmal atrial fibrillation. These findings emphasise the need to evaluate for CS in individuals with ACM and associated genetic variants who present with conduction abnormalities or septal involvement, guiding tailored diagnostic and therapeutic strategies.
背景:心脏结节病(CS)是一种以非干酪化肉芽肿为特征的慢性炎症性疾病,而心律失常性心肌病(ACM)是一种主要影响桥粒体蛋白的遗传性疾病。CS和与ACM相关的遗传变异共存尚不清楚,这给诊断和管理带来了挑战。本研究旨在描述这两种疾病患者的临床、影像学和遗传学特征。方法:这是一项多中心回顾性病例对照研究,涉及三组患者:活检证实的CS和与ACM相关的致病性或可能致病性遗传变异患者(n=5);有遗传变异但无CS的患者(n=5);无遗传变异的CS患者(n=5)。临床资料,包括症状、心电图表现和超声心动图、心脏磁共振和正电子发射断层扫描的成像结果进行了分析。结果:与仅存在遗传变异的患者(两者均为0%)相比,CS和遗传变异的患者更容易出现房室传导阻滞(100%)、PR延长(204 ms vs 160 ms)和阵发性心房颤动(80%)。影像学结果显示,两种情况的患者中隔受累的发生率(80%)高于仅遗传变异的患者(20%)。有遗传变异的CS患者与无遗传变异的CS患者之间无显著差异。鉴定的遗传变异包括PKP2(40%)、DSG2(20%)、DSP(20%)和TTN(20%)的变异。结论:CS和acm相关基因变异的共存与不同的临床特征相关,包括PR延长、AVB1°、室间隔受累性和阵发性心房颤动。这些研究结果强调,有必要对伴有传导异常或间隔受累者的ACM患者及其相关基因变异进行CS评估,以指导量身定制的诊断和治疗策略。
{"title":"Coexistence of cardiac sarcoidosis and arrhythmogenic cardiomyopathy-associated genetic variants: a multicentre case-control study.","authors":"Valentina Alice Rossi, Matteo Palazzini, Enrico Ammirati, Alessio Gasperetti, Martin Grubler, Corinna Brunckhorst, Robert Manka, Andreas Giannopoulos, Felix C Tanner, Argelia Medeiros-Domingo, Piero Gentile, Manuela Bramerio, Dörthe Schmidt, Claudio Tondo, Andreas J Flammer, Frank Ruschitzka, Firat Duru, Ardan Muammer Saguner","doi":"10.1136/heartjnl-2024-324525","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324525","url":null,"abstract":"<p><strong>Background: </strong>Cardiac sarcoidosis (CS) is a chronic inflammatory disease characterised by non-caseating granulomas, while arrhythmogenic cardiomyopathy (ACM) is a genetic condition mainly affecting desmosomal proteins. The coexistence of CS and genetic variants associated with ACM is not well understood, creating challenges in diagnosis and management. This study aimed to describe the clinical, imaging and genetic features of patients with both conditions.</p><p><strong>Methods: </strong>This was a multicentre retrospective case-control study involving three groups of patients: those with biopsy-proven CS and pathogenic or likely pathogenic genetic variants linked to ACM (n=5); patients with genetic variants but no CS (n=5); and patients with CS without genetic variants (n=5). Clinical data, including symptoms, electrocardiographic findings and imaging results from echocardiography, cardiac magnetic resonance and positron-emission tomography, were analysed.</p><p><strong>Results: </strong>Patients with CS and genetic variants were more likely to exhibit atrioventricular block (100%), PR prolongation (204 ms vs 160 ms) and paroxysmal atrial fibrillation (80%) compared with those with genetic variants alone (0% for both). Imaging findings showed a higher prevalence of septal involvement in patients with both conditions (80%) than in those with genetic variants alone (20%). No significant differences were observed between patients with CS and genetic variants and those with CS without genetic variants. The genetic variants identified included variants in PKP2 (40%), DSG2 (20%), DSP (20%) and TTN (20%).</p><p><strong>Conclusions: </strong>The coexistence of CS and ACM-associated genetic variants is associated with distinct clinical features, including PR prolongation, AVB1°, septal involvement and paroxysmal atrial fibrillation. These findings emphasise the need to evaluate for CS in individuals with ACM and associated genetic variants who present with conduction abnormalities or septal involvement, guiding tailored diagnostic and therapeutic strategies.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004430","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}
Pub Date : 2025-01-20DOI: 10.1136/heartjnl-2024-324988
Khadija Yaqoob, Hafiz Naderi, Ross J Thomson, Dunja Aksentijevic, Magnus T Jensen, Patricia B Munroe, Steffen E Petersen, Nay Aung, Muhammed Magdi Yaqoob
Background: The impact of early-stage chronic kidney disease (CKD) on cardiovascular outcomes, particularly when albuminuria is present, remains unclear. This study examined the associations between early CKD (stages 1 and 2) with and without albuminuria and the incidence of major adverse cardiovascular events (MACEs), heart failure (HF) and all-cause mortality.
Methods: A cohort of 456 015 participants from the UK Biobank was categorised by CKD stage using serum creatinine to calculate estimated glomerular filtration rate (eGFR) and urinary albumin-creatinine ratio (≥3 mg/mmol) to define albuminuria. Multivariable Cox proportional hazard models were applied to evaluate the associations between CKD stages and cardiovascular outcomes. Additionally, left ventricular mass (LVM), an intermediate cardiovascular risk marker, was assessed in a subset of participants using cardiovascular MRI.
Results: Compared with normal kidney function, the risk of adverse outcomes increased progressively with advancing CKD stages, except for stage 2 CKD without albuminuria. Stage 2 CKD with albuminuria was associated with higher risks of MACE (HR 1.32, 95% CI 1.25 to 1.38), HF (HR 1.79, 95% CI 1.67 to 1.92) and all-cause mortality (HR 1.51, 95% CI 1.44 to 1.58), comparable to stage 3A CKD without albuminuria. The presence of albuminuria significantly interacted with the relationships between CKD stages and outcomes. No significant differences in indexed LVM were observed between early-stage CKD with albuminuria and normal renal function.
Conclusions: In early-stage CKD, albuminuria is independently associated with increased risks of MACE, HF and mortality. These findings support the use of albuminuria over eGFR decline alone for cardiovascular risk stratification in early CKD.
背景:早期慢性肾脏疾病(CKD)对心血管预后的影响,特别是当存在蛋白尿时,尚不清楚。本研究探讨了有无蛋白尿的早期CKD(1期和2期)与主要不良心血管事件(mace)、心力衰竭(HF)和全因死亡率之间的关系。方法:来自UK Biobank的456015名参与者按CKD分期进行分类,使用血清肌酐计算估计肾小球滤过率(eGFR)和尿白蛋白-肌酐比值(≥3mg /mmol)来定义蛋白尿。应用多变量Cox比例风险模型评估CKD分期与心血管结局之间的关系。此外,左心室质量(LVM)是一种中间心血管风险标志物,在一部分参与者中使用心血管MRI进行评估。结果:与正常肾功能相比,不良结局的风险随着CKD的进展而逐渐增加,但不伴有蛋白尿的2期CKD除外。2期CKD合并蛋白尿与MACE (HR 1.32, 95% CI 1.25 - 1.38)、HF (HR 1.79, 95% CI 1.67 - 1.92)和全因死亡率(HR 1.51, 95% CI 1.44 - 1.58)的风险较高,与无蛋白尿的3A期CKD相当。蛋白尿的存在与CKD分期和预后之间的关系有显著的相互作用。早期CKD伴蛋白尿患者与正常肾功能患者的LVM指数无显著差异。结论:在早期CKD中,蛋白尿与MACE、HF和死亡率的风险增加独立相关。这些发现支持将蛋白尿与eGFR下降单独用于早期CKD心血管风险分层。
{"title":"Prognostic impact of albuminuria in early-stage chronic kidney disease on cardiovascular outcomes: a cohort study.","authors":"Khadija Yaqoob, Hafiz Naderi, Ross J Thomson, Dunja Aksentijevic, Magnus T Jensen, Patricia B Munroe, Steffen E Petersen, Nay Aung, Muhammed Magdi Yaqoob","doi":"10.1136/heartjnl-2024-324988","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-324988","url":null,"abstract":"<p><strong>Background: </strong>The impact of early-stage chronic kidney disease (CKD) on cardiovascular outcomes, particularly when albuminuria is present, remains unclear. This study examined the associations between early CKD (stages 1 and 2) with and without albuminuria and the incidence of major adverse cardiovascular events (MACEs), heart failure (HF) and all-cause mortality.</p><p><strong>Methods: </strong>A cohort of 456 015 participants from the UK Biobank was categorised by CKD stage using serum creatinine to calculate estimated glomerular filtration rate (eGFR) and urinary albumin-creatinine ratio (≥3 mg/mmol) to define albuminuria. Multivariable Cox proportional hazard models were applied to evaluate the associations between CKD stages and cardiovascular outcomes. Additionally, left ventricular mass (LVM), an intermediate cardiovascular risk marker, was assessed in a subset of participants using cardiovascular MRI.</p><p><strong>Results: </strong>Compared with normal kidney function, the risk of adverse outcomes increased progressively with advancing CKD stages, except for stage 2 CKD without albuminuria. Stage 2 CKD with albuminuria was associated with higher risks of MACE (HR 1.32, 95% CI 1.25 to 1.38), HF (HR 1.79, 95% CI 1.67 to 1.92) and all-cause mortality (HR 1.51, 95% CI 1.44 to 1.58), comparable to stage 3A CKD without albuminuria. The presence of albuminuria significantly interacted with the relationships between CKD stages and outcomes. No significant differences in indexed LVM were observed between early-stage CKD with albuminuria and normal renal function.</p><p><strong>Conclusions: </strong>In early-stage CKD, albuminuria is independently associated with increased risks of MACE, HF and mortality. These findings support the use of albuminuria over eGFR decline alone for cardiovascular risk stratification in early CKD.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004058","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}
Pub Date : 2025-01-19DOI: 10.1136/heartjnl-2024-325020
Emma Basse Christensen, Christoffer Rasmus Vissing, Elvira Silajdzija, Helen Lamiokor Mills, Jens Jakob Thune, Charlotte Larroudé, Helle Skovmand Bosselmann, Berit Thornvig Philbert, Anna Axelsson Raja, Alex Hørby Christensen, Henning Bundgaard
Background: Treatment with implantable cardioverter-defibrillators (ICDs) effectively prevents sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM). Identifying patients most likely to benefit from a primary prevention ICD remains challenging. We aimed to investigate the long-term incidence of ICD therapy in patients with HCM according to SCD-risk at baseline.
Methods: The study retrospectively included all patients with HCM treated with an ICD for primary or secondary prevention between 1995 and 2022 in Eastern Denmark. Medical records for each patient were evaluated. Patients were stratified into risk groups according to the European Society of Cardiology HCM Risk-SCD score.
Results: We included 208 patients (66% male) with HCM and an ICD for primary (78%) or secondary prevention (22%). During a median 10-year follow-up, 66 patients (32%) received appropriate ICD therapy (antitachycardia pacing and/or shock), while 20 (10%) received inappropriate therapy. Patients with an ICD implanted for secondary prevention were almost twice as likely to receive appropriate therapy compared with patients with an ICD implanted for primary prevention (47% vs 28%, p=0.02). The 5-year cumulative incidences of appropriate shock therapy were 17% in patients with a high HCM Risk-SCD score, 16% in patients with an intermediate-risk score and 6% in patients with a low-risk score. A high-risk score was associated with higher cumulative incidence of appropriate shock therapy (p=0.012).
Conclusion: One-third of patients with HCM treated with an ICD experienced appropriate ICD therapy. The HCM-Risk SCD score adequately distinguished between low-risk and high-risk patients among those who underwent ICD implantation. Further improvements of risk-tools are needed to identify a larger proportion of the two-thirds of patients who did not benefit from ICD implantation after 10 years of observation.
背景:植入式心律转复除颤器(ICDs)治疗可有效预防肥厚性心肌病(HCM)患者的心源性猝死(SCD)。确定最有可能从一级预防ICD中受益的患者仍然具有挑战性。我们的目的是根据基线scd风险调查HCM患者ICD治疗的长期发生率。方法:回顾性研究纳入1995年至2022年丹麦东部所有接受ICD一级或二级预防治疗的HCM患者。对每位患者的医疗记录进行了评估。根据欧洲心脏病学会HCM风险- scd评分将患者分为危险组。结果:我们纳入了208例HCM患者(66%为男性),ICD用于一级预防(78%)或二级预防(22%)。在中位10年随访期间,66例(32%)患者接受了适当的ICD治疗(抗心动过速起搏和/或休克),而20例(10%)患者接受了不适当的治疗。与植入式ICD用于一级预防的患者相比,植入式ICD用于二级预防的患者接受适当治疗的可能性几乎是植入式ICD的两倍(47% vs 28%, p=0.02)。在HCM - scd评分高的患者中,适当休克治疗的5年累积发生率为17%,中危评分患者为16%,低危评分患者为6%。高风险评分与较高的休克治疗累积发生率相关(p=0.012)。结论:三分之一接受ICD治疗的HCM患者接受了适当的ICD治疗。HCM-Risk SCD评分可以充分区分ICD植入患者中的低风险和高风险患者。需要进一步改进风险工具,以确定在10年观察后没有从ICD植入中获益的三分之二患者中的更大比例。
{"title":"Long-term incidence of implantable cardioverter-defibrillator therapy in patients with hypertrophic cardiomyopathy: analysis of appropriate and inappropriate interventions.","authors":"Emma Basse Christensen, Christoffer Rasmus Vissing, Elvira Silajdzija, Helen Lamiokor Mills, Jens Jakob Thune, Charlotte Larroudé, Helle Skovmand Bosselmann, Berit Thornvig Philbert, Anna Axelsson Raja, Alex Hørby Christensen, Henning Bundgaard","doi":"10.1136/heartjnl-2024-325020","DOIUrl":"https://doi.org/10.1136/heartjnl-2024-325020","url":null,"abstract":"<p><strong>Background: </strong>Treatment with implantable cardioverter-defibrillators (ICDs) effectively prevents sudden cardiac death (SCD) in patients with hypertrophic cardiomyopathy (HCM). Identifying patients most likely to benefit from a primary prevention ICD remains challenging. We aimed to investigate the long-term incidence of ICD therapy in patients with HCM according to SCD-risk at baseline.</p><p><strong>Methods: </strong>The study retrospectively included all patients with HCM treated with an ICD for primary or secondary prevention between 1995 and 2022 in Eastern Denmark. Medical records for each patient were evaluated. Patients were stratified into risk groups according to the European Society of Cardiology HCM Risk-SCD score.</p><p><strong>Results: </strong>We included 208 patients (66% male) with HCM and an ICD for primary (78%) or secondary prevention (22%). During a median 10-year follow-up, 66 patients (32%) received appropriate ICD therapy (antitachycardia pacing and/or shock), while 20 (10%) received inappropriate therapy. Patients with an ICD implanted for secondary prevention were almost twice as likely to receive appropriate therapy compared with patients with an ICD implanted for primary prevention (47% vs 28%, p=0.02). The 5-year cumulative incidences of appropriate shock therapy were 17% in patients with a high HCM Risk-SCD score, 16% in patients with an intermediate-risk score and 6% in patients with a low-risk score. A high-risk score was associated with higher cumulative incidence of appropriate shock therapy (p=0.012).</p><p><strong>Conclusion: </strong>One-third of patients with HCM treated with an ICD experienced appropriate ICD therapy. The HCM-Risk SCD score adequately distinguished between low-risk and high-risk patients among those who underwent ICD implantation. Further improvements of risk-tools are needed to identify a larger proportion of the two-thirds of patients who did not benefit from ICD implantation after 10 years of observation.</p>","PeriodicalId":12835,"journal":{"name":"Heart","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2025-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143004449","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}