Pub Date : 2022-03-31DOI: 10.1136/heartjnl-2022-320918
S. Sze, S. Ayton, A. Moss
Public information campaigns have gone to great lengths to emphasise that a suspected myocardial infarction is a medical emergency requiring immediate medical attention. In the UK, the message is simple, ‘Time is Muscle’—dial 999. Highly skilled call handlers perform the challenging task of telephone triage to determine the urgency of response and the rapid dispatch of medical personnel. While standardised triage questions for chest pain are used to help make an informed judgement regarding the clinical severity, it is widely appreciated that the accuracy of these medical dispatching systems is very low and this results in an excessive deployment of emergency medical responders to mitigate any potential harm to patients. Indeed, even when senior medical input is involved in the triage decisionmaking, myocardial infarction only accounts for one in nine of chest pain callouts. In the prehospital setting, emergency medical services are aware of the modest sensitivity (approximately 80%) of an early triage assessment to safely rule out myocardial infarction, hence the high rate of transfers to hospital for early biomarker analysis. This simple pathway of dial 999—emergency medical services assessment—immediate hospital transfer is rightly considered the gold standard for achieving a timely assessment and early intervention to minimise the complications of ischaemia and subsequent infarction. However, despite the call for immediate medical attention being a critical part in initiating the ‘chain of survival’, there is a paucity of data regarding this prehospital decisionmaking. Importantly, does a deviation from this simple pathway by using alternative access points for health services result in more harm to patients with myocardial infarction? To address this question, Hodgins and colleagues performed a retrospective nationwide analysis using data linkage from Scottish healthcare records of 26 325 patients admitted with myocardial infarction over 2 years. Using International Classification of Disease 10th Revision (ICD) codes (I21 and I22) to capture the diagnosis of myocardial infarction, they were able to link multiple datasets from the Scottish National Health Service telephone triage service (NHS24), the Scottish Ambulance Service, outofhours primary care, emergency departments and acute hospital admissions units to ascertain the patient pathway which resulted in an acute hospital admission for myocardial infarction. Pathways which were ‘direct’ (those patients who had an uninterrupted admission from the call to an acute hospital bed) were compared with ‘indirect’ (those patients who had multiple prehospital assessments prior to an admission to an acute hospital bed) using a primary outcome measure of coronary artery disease mortality at 28 days. Quite surprisingly, there were 370 unique pathways by which patients were admitted to an acute hospital bed, of which only 15 were classified as ‘direct’ (figure 1). These 15 ‘direct’ pathways accounted
{"title":"Should we always call 911/999 to get it right first time in suspected myocardial infarction?","authors":"S. Sze, S. Ayton, A. Moss","doi":"10.1136/heartjnl-2022-320918","DOIUrl":"https://doi.org/10.1136/heartjnl-2022-320918","url":null,"abstract":"Public information campaigns have gone to great lengths to emphasise that a suspected myocardial infarction is a medical emergency requiring immediate medical attention. In the UK, the message is simple, ‘Time is Muscle’—dial 999. Highly skilled call handlers perform the challenging task of telephone triage to determine the urgency of response and the rapid dispatch of medical personnel. While standardised triage questions for chest pain are used to help make an informed judgement regarding the clinical severity, it is widely appreciated that the accuracy of these medical dispatching systems is very low and this results in an excessive deployment of emergency medical responders to mitigate any potential harm to patients. Indeed, even when senior medical input is involved in the triage decisionmaking, myocardial infarction only accounts for one in nine of chest pain callouts. In the prehospital setting, emergency medical services are aware of the modest sensitivity (approximately 80%) of an early triage assessment to safely rule out myocardial infarction, hence the high rate of transfers to hospital for early biomarker analysis. This simple pathway of dial 999—emergency medical services assessment—immediate hospital transfer is rightly considered the gold standard for achieving a timely assessment and early intervention to minimise the complications of ischaemia and subsequent infarction. However, despite the call for immediate medical attention being a critical part in initiating the ‘chain of survival’, there is a paucity of data regarding this prehospital decisionmaking. Importantly, does a deviation from this simple pathway by using alternative access points for health services result in more harm to patients with myocardial infarction? To address this question, Hodgins and colleagues performed a retrospective nationwide analysis using data linkage from Scottish healthcare records of 26 325 patients admitted with myocardial infarction over 2 years. Using International Classification of Disease 10th Revision (ICD) codes (I21 and I22) to capture the diagnosis of myocardial infarction, they were able to link multiple datasets from the Scottish National Health Service telephone triage service (NHS24), the Scottish Ambulance Service, outofhours primary care, emergency departments and acute hospital admissions units to ascertain the patient pathway which resulted in an acute hospital admission for myocardial infarction. Pathways which were ‘direct’ (those patients who had an uninterrupted admission from the call to an acute hospital bed) were compared with ‘indirect’ (those patients who had multiple prehospital assessments prior to an admission to an acute hospital bed) using a primary outcome measure of coronary artery disease mortality at 28 days. Quite surprisingly, there were 370 unique pathways by which patients were admitted to an acute hospital bed, of which only 15 were classified as ‘direct’ (figure 1). These 15 ‘direct’ pathways accounted ","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"1082 - 1083"},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43204691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-31DOI: 10.1136/heartjnl-2021-320696
Holly Morgan, A. Sinha, M. McEntegart, S. Hardman, D. Perera
Objectives Cardiovascular disease is one of the leading causes of mortality and morbidity in women. Despite this, even in contemporary research, female patients are poorly represented in trials. This study aimed to explore reasons behind the sex disparity in heart failure (HF) trials. Methods HF trials published in seven high-impact clinical journals (impact factor >20), between 2000 and 2020, were identified. Trials with over 300 participants of both sexes were included. Large HF registries, as well as population statistics, were also identified using the same criteria. Results We identified 146 HF trials, which included 248 620 patients in total. The median proportion of female patients was 25.8%, with the lowest proportions seen in trials enrolling patients with ischaemic cardiomyopathy (17.9%), severe systolic dysfunction (left ventricular ejection fraction (LVEF) <35%) (21.4%) and those involving an invasive procedure (21.1%). The highest proportion of women was seen in trials assessing HF with preserved LVEF (51.6%), as well as trials including older participants (40.5%). Significant differences were seen between prevalence of female trial participants and population prevalence in all LVEF categories (25.8% vs 49.0%, p<0.01). Conclusions A significant sex disparity was identified in HF trials, most visible in trials assessing patients with severely reduced LVEF and ischaemic aetiology. This is likely due to a complex interplay between enrolment bias and biological variation. Furthermore, the degree of both these aspects may vary according to trial type. Going forward, we should encourage all HF trials to appraise their recruitment log and suggest reasons for any reported sex disparity.
{"title":"Evaluation of the causes of sex disparity in heart failure trials","authors":"Holly Morgan, A. Sinha, M. McEntegart, S. Hardman, D. Perera","doi":"10.1136/heartjnl-2021-320696","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-320696","url":null,"abstract":"Objectives Cardiovascular disease is one of the leading causes of mortality and morbidity in women. Despite this, even in contemporary research, female patients are poorly represented in trials. This study aimed to explore reasons behind the sex disparity in heart failure (HF) trials. Methods HF trials published in seven high-impact clinical journals (impact factor >20), between 2000 and 2020, were identified. Trials with over 300 participants of both sexes were included. Large HF registries, as well as population statistics, were also identified using the same criteria. Results We identified 146 HF trials, which included 248 620 patients in total. The median proportion of female patients was 25.8%, with the lowest proportions seen in trials enrolling patients with ischaemic cardiomyopathy (17.9%), severe systolic dysfunction (left ventricular ejection fraction (LVEF) <35%) (21.4%) and those involving an invasive procedure (21.1%). The highest proportion of women was seen in trials assessing HF with preserved LVEF (51.6%), as well as trials including older participants (40.5%). Significant differences were seen between prevalence of female trial participants and population prevalence in all LVEF categories (25.8% vs 49.0%, p<0.01). Conclusions A significant sex disparity was identified in HF trials, most visible in trials assessing patients with severely reduced LVEF and ischaemic aetiology. This is likely due to a complex interplay between enrolment bias and biological variation. Furthermore, the degree of both these aspects may vary according to trial type. Going forward, we should encourage all HF trials to appraise their recruitment log and suggest reasons for any reported sex disparity.","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"1547 - 1552"},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42605602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-31DOI: 10.1136/heartjnl-2022-320925
Satoshi Terasaki, K. Kanaoka, Y. Saito
The Authors' reply: In response to the valuable comments of John E Madias, we are pleased to share the results of the additional analysis on our recent study titled ‘Outcomes of catecholamine and/ or mechanical support in Takotsubo syndrome’. We hope that the journal readership finds the additional information helpful. Although the exact pathophysiological mechanisms of Takotsubo syndrome (TTS) are not completely understood, considerable evidence suggests that sympathetic stimulation is crucial to its pathogenesis. It has previously been postulated that the prevalence of diabetes mellitus (DM) in patients with TTS is lower than that in the general population. The implication of this is that DM exerts a ‘protective effect’ against the development of TTS, a phenomenon referred to as the ‘diabetes paradox’; however, DM is a risk factor for other cardiovascular diseases such as acute myocardial infarction and heart failure. We compared TTS data in our study with the data from other Japanese Registry of All Cardiac and Vascular Diseases (JROAD) studies and the Japanese Health and Nutrition Examination Survey (https://www.mhlw.go.jp/bunya/kenkou/ kenkou_eiyou_chousa.html (in Japanese)). In the cohort study of acute heart failure based on the JROAD, the mean age of patients was 81 years; 52% and 26% of patients had hypertension and diabetes, respectively. In the cohort study of acute myocardial infarction, the mean age of patients was 69 years; furthermore, 62% and 29% of patients had hypertension and diabetes, respectively. In our study, the mean age of patients with TTS was 75 years, and 42.0% and 14.1% of patients had hypertension and diabetes, respectively, suggesting that the incidence of diabetes is probably approximately half of that of other diseases. However, considering the higher prevalence of TTS among women (81% in our study) and the older mean age of the acute heart failure cohort, there are limitations to simply comparing these groups of patients with TTS. Additionally, we compared TTS data with data from the Japanese Health and Nutrition Examination Survey. The age and sex adjusted incidence of diabetes based on the Japanese Health and Nutrition data in 2016 was 17.8%; meanwhile, the incidence of diabetes was 14.1% among patients with TTS in our study, suggesting that the incidence of diabetes among patients with TTS may be lower than that in the general population. In a study that argued against the hypothesis that diabetes may have a protective effect on the development of TTS, 21.1% of patients with TTS had diabetes, which was slightly higher than the expected sexadjusted and ageadjusted rates in the general population of the participating countries (Italy and Germany). Stiermaier et al indicated that identification of diseases based on the International Classification of Diseases 10th Revision (ICD10) codes could underestimate the incidence of DM. As the ICD10 codes were also used in our study, it was considered necessary to be cauti
作者回复：为了回应John E Madias的宝贵意见，我们很高兴分享我们最近题为“儿茶酚胺和/或机械支持治疗Takotsubo综合征的结果”的研究的额外分析结果。我们希望期刊读者能发现这些补充信息对我们有所帮助。尽管Takotsubo综合征（TTS）的确切病理生理机制尚不完全清楚，但大量证据表明交感神经刺激对其发病机制至关重要。以前有人假设TTS患者的糖尿病（DM）患病率低于普通人群。这意味着糖尿病对TTS的发展具有“保护作用”，这种现象被称为“糖尿病悖论”；然而，糖尿病是其他心血管疾病的危险因素，如急性心肌梗死和心力衰竭。我们将我们研究中的TTS数据与其他日本心血管疾病登记处（JROAD）研究和日本健康和营养检查调查的数据进行了比较(https://www.mhlw.go.jp/bunya/kenkou/kenkoueiyou_chousa.html（日语））。在基于JROAD的急性心力衰竭队列研究中，患者的平均年龄为81岁；52%和26%的患者分别患有高血压和糖尿病。在急性心肌梗死的队列研究中，患者的平均年龄为69岁；此外，62%和29%的患者分别患有高血压和糖尿病。在我们的研究中，TTS患者的平均年龄为75岁，分别有42.0%和14.1%的患者患有高血压和糖尿病，这表明糖尿病的发病率可能约为其他疾病的一半。然而，考虑到女性TTS的患病率较高（在我们的研究中为81%）以及急性心力衰竭队列的平均年龄较大，简单比较这些TTS患者组是有局限性的。此外，我们将TTS数据与日本健康和营养检查调查的数据进行了比较。根据2016年日本健康与营养数据，经年龄和性别调整的糖尿病发病率为17.8%；同时，在我们的研究中，TTS患者中糖尿病的发病率为14.1%，这表明TTS患者的糖尿病发病率可能低于普通人群。在一项反对糖尿病可能对TTS发展具有保护作用的假设的研究中，21.1%的TTS患者患有糖尿病，这略高于参与国（意大利和德国）普通人群中预期的性别调整和年龄调整率。Stiermaier等人指出，根据国际疾病分类第10次修订版（ICD10）代码识别疾病可能低估了糖尿病的发病率。由于ICD10代码也用于我们的研究，因此在讨论结果时需要谨慎。考虑到交感神经活动的过度激活在TTS的发病机制中起着核心作用，糖尿病诱导的自主神经病变可能导致大脑和心脏之间的脱节，改善或阻断不受限制的肾上腺素能风暴对心脏的影响，并导致TTS的表现。然而，有必要进一步研究DM对TTS发展的保护作用。
{"title":"Response to: Correspondence on 'Outcomes of catecholamine and/or mechanical support in Takotsubo syndrome' by John E Madias","authors":"Satoshi Terasaki, K. Kanaoka, Y. Saito","doi":"10.1136/heartjnl-2022-320925","DOIUrl":"https://doi.org/10.1136/heartjnl-2022-320925","url":null,"abstract":"The Authors' reply: In response to the valuable comments of John E Madias, we are pleased to share the results of the additional analysis on our recent study titled ‘Outcomes of catecholamine and/ or mechanical support in Takotsubo syndrome’. We hope that the journal readership finds the additional information helpful. Although the exact pathophysiological mechanisms of Takotsubo syndrome (TTS) are not completely understood, considerable evidence suggests that sympathetic stimulation is crucial to its pathogenesis. It has previously been postulated that the prevalence of diabetes mellitus (DM) in patients with TTS is lower than that in the general population. The implication of this is that DM exerts a ‘protective effect’ against the development of TTS, a phenomenon referred to as the ‘diabetes paradox’; however, DM is a risk factor for other cardiovascular diseases such as acute myocardial infarction and heart failure. We compared TTS data in our study with the data from other Japanese Registry of All Cardiac and Vascular Diseases (JROAD) studies and the Japanese Health and Nutrition Examination Survey (https://www.mhlw.go.jp/bunya/kenkou/ kenkou_eiyou_chousa.html (in Japanese)). In the cohort study of acute heart failure based on the JROAD, the mean age of patients was 81 years; 52% and 26% of patients had hypertension and diabetes, respectively. In the cohort study of acute myocardial infarction, the mean age of patients was 69 years; furthermore, 62% and 29% of patients had hypertension and diabetes, respectively. In our study, the mean age of patients with TTS was 75 years, and 42.0% and 14.1% of patients had hypertension and diabetes, respectively, suggesting that the incidence of diabetes is probably approximately half of that of other diseases. However, considering the higher prevalence of TTS among women (81% in our study) and the older mean age of the acute heart failure cohort, there are limitations to simply comparing these groups of patients with TTS. Additionally, we compared TTS data with data from the Japanese Health and Nutrition Examination Survey. The age and sex adjusted incidence of diabetes based on the Japanese Health and Nutrition data in 2016 was 17.8%; meanwhile, the incidence of diabetes was 14.1% among patients with TTS in our study, suggesting that the incidence of diabetes among patients with TTS may be lower than that in the general population. In a study that argued against the hypothesis that diabetes may have a protective effect on the development of TTS, 21.1% of patients with TTS had diabetes, which was slightly higher than the expected sexadjusted and ageadjusted rates in the general population of the participating countries (Italy and Germany). Stiermaier et al indicated that identification of diseases based on the International Classification of Diseases 10th Revision (ICD10) codes could underestimate the incidence of DM. As the ICD10 codes were also used in our study, it was considered necessary to be cauti","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"986 - 987"},"PeriodicalIF":0.0,"publicationDate":"2022-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43269391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-30DOI: 10.1136/heartjnl-2021-320742
J. Rodríguez-Palomares
Several mechanisms have been described to explain the aetiology of bicuspid aortic valve disease (BAV). On the one hand, haemodynamic factors by which an altered flow through the valve induces an abnormal cusp formation, and on the other, genetic factors given the presence of familial cases (6.4% of firstdegree relatives) and its association with other left ventricular outflow tract (LVOT) abnormalities. Although most BAV cases are sporadic, an autosomal dominant pattern of inheritance with an incomplete penetrance has been proposed with an estimated heritability between 47% and 89%. It is more prevalent in men (9.2% vs 3.5%, respectively), which suggests that the loss of genes on the X chromosome may predispose its condition, however, these genes have not been yet identified. NOTCH1 has become the first gene associated with both familial and sporadic BAV and associated with other leftsided and rightsided congenital heart defects (such as tetralogy of Fallot, truncus arteriosus or hypoplastic left heart syndrome (HLHS)). This gene is highly expressed in the LVOT mesenchyme and endocardium at the location of the nascent valve cusps and the presence of haploinsufficiency has been associated with BAV and thoracic aortic aneurysms (TAA). Due to the common embryologic origin of the aortic valve, LVOT and proximal aorta, BAV frequently coexists with other leftsided congenital heart lesions, such as coarctation (CoA), Shone complex and HLHS. It has been reported that 50%–85% of patients with CoAassociated BAV. The highest penetrance of BAV in a genetic syndrome occurs in women with Turner syndrome, which is caused by a partial or complete absence of one X chromosome. BAV appears in >30% of patients, and the prevalence of associated CoA, aortic aneurysms and acute aortic dissections exceeds that in sporadic BAV cases. However, NOTCH1 variants explain only a small proportion of familial (2%) and sporadic (0.06%–0.08%) BAV disease suggesting incomplete penetrance. The nitric oxide synthase (NOS) pathway has also been shown to be relevant in the development of the tricuspid aortic valve. Nitric oxide has an important role in the aortic postdevelopment remodelling, angiogenesis and BAV (especially the right noncoronary cusp fusion morphotype). In this regard, mutations in the NKX2.5 gene, which encodes a protein related to nitric oxide promoters’ activation, have been identified in BAV families. Also, rare genetic variants in the GATA5 gene (related to transcription factors associated with cardiac morphogenesis) have been documented in several patients with BAV, suggesting a possible role for GATA5 in BAV pathogenesis. Several other genes have been reported to be associated with BAV in clinical studies but some of these associations may result from a coexisting disease. Recently, targeted sequencing of the coding regions of nine genes previously associated with BAV (NOTCH1, AXIN1, EGFR, ENG, GATA5, NKX25, NOS3, PDIA2 and TGFBR2) have not been associated with
{"title":"Genetics of bicuspid aortic valve: ready for clinical use?","authors":"J. Rodríguez-Palomares","doi":"10.1136/heartjnl-2021-320742","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-320742","url":null,"abstract":"Several mechanisms have been described to explain the aetiology of bicuspid aortic valve disease (BAV). On the one hand, haemodynamic factors by which an altered flow through the valve induces an abnormal cusp formation, and on the other, genetic factors given the presence of familial cases (6.4% of firstdegree relatives) and its association with other left ventricular outflow tract (LVOT) abnormalities. Although most BAV cases are sporadic, an autosomal dominant pattern of inheritance with an incomplete penetrance has been proposed with an estimated heritability between 47% and 89%. It is more prevalent in men (9.2% vs 3.5%, respectively), which suggests that the loss of genes on the X chromosome may predispose its condition, however, these genes have not been yet identified. NOTCH1 has become the first gene associated with both familial and sporadic BAV and associated with other leftsided and rightsided congenital heart defects (such as tetralogy of Fallot, truncus arteriosus or hypoplastic left heart syndrome (HLHS)). This gene is highly expressed in the LVOT mesenchyme and endocardium at the location of the nascent valve cusps and the presence of haploinsufficiency has been associated with BAV and thoracic aortic aneurysms (TAA). Due to the common embryologic origin of the aortic valve, LVOT and proximal aorta, BAV frequently coexists with other leftsided congenital heart lesions, such as coarctation (CoA), Shone complex and HLHS. It has been reported that 50%–85% of patients with CoAassociated BAV. The highest penetrance of BAV in a genetic syndrome occurs in women with Turner syndrome, which is caused by a partial or complete absence of one X chromosome. BAV appears in >30% of patients, and the prevalence of associated CoA, aortic aneurysms and acute aortic dissections exceeds that in sporadic BAV cases. However, NOTCH1 variants explain only a small proportion of familial (2%) and sporadic (0.06%–0.08%) BAV disease suggesting incomplete penetrance. The nitric oxide synthase (NOS) pathway has also been shown to be relevant in the development of the tricuspid aortic valve. Nitric oxide has an important role in the aortic postdevelopment remodelling, angiogenesis and BAV (especially the right noncoronary cusp fusion morphotype). In this regard, mutations in the NKX2.5 gene, which encodes a protein related to nitric oxide promoters’ activation, have been identified in BAV families. Also, rare genetic variants in the GATA5 gene (related to transcription factors associated with cardiac morphogenesis) have been documented in several patients with BAV, suggesting a possible role for GATA5 in BAV pathogenesis. Several other genes have been reported to be associated with BAV in clinical studies but some of these associations may result from a coexisting disease. Recently, targeted sequencing of the coding regions of nine genes previously associated with BAV (NOTCH1, AXIN1, EGFR, ENG, GATA5, NKX25, NOS3, PDIA2 and TGFBR2) have not been associated with","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"1078 - 1079"},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44794471","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-29DOI: 10.1136/heartjnl-2021-320531
T. Okuno, Daijiro Tomii, E. Buffle, J. Lanz, C. Ryffel, Caglayan Demirel, Suliman Hashemi, D. Hagemeyer, A. Papadis, D. Heg, F. Praz, S. Stortecky, S. Windecker, T. Pilgrim
Background Rheumatic heart disease (RHD) accounts for the highest number of deaths from valvular heart disease globally. Yet, rheumatic aortic stenosis (AS) was excluded from landmark studies investigating the safety and efficacy of transcatheter aortic valve implantation (TAVI). We aimed to describe the clinical and anatomical characteristics of patients with rheumatic AS undergoing TAVI, and to compare procedural and clinical outcomes with patients undergoing TAVI for degenerative AS. Methods In a prospective TAVI registry, patients with rheumatic AS were identified based on International Classification of Diseases version 10 codes and/or a documented history of acute rheumatic fever and/or the World Heart Federation criteria for echocardiographic diagnosis of RHD, and were propensity score-matched in a 1:4 ratio to patients with degenerative AS. Results Among 2329 patients undergoing TAVI, 105 (4.5%) had rheumatic AS. Compared with patients with degenerative AS, patients with rheumatic AS were more commonly female, older, had higher surgical risk and more commonly suffered from multivalvular heart disease. In the unmatched cohort, both technical success (85.7% vs 85.9%, p=0.887) and 1-year cardiovascular mortality (10.0% vs 8.6%; HR 1.16, 95% CI 0.61 to 2.18, p=0.656) were comparable between patients with rheumatic and degenerative AS. In contrast, patients with rheumatic AS had lower rates of 30-day and 1-year cardiovascular mortality compared with matched patients with degenerative AS (1.9% vs 8.9%, adjusted HR (HRadj) 0.18, 95% CI 0.04 to 0.80, p=0.024; and 10.0% vs 20.3%, HRadj 0.44, 95% CI 0.24 to 0.84, p=0.012, respectively). Conclusion TAVI may be a safe and effective treatment strategy for selected elderly patients with rheumatic AS. Trial registration number NCT01368250.
{"title":"Transcatheter aortic valve implantation in patients with rheumatic aortic stenosis","authors":"T. Okuno, Daijiro Tomii, E. Buffle, J. Lanz, C. Ryffel, Caglayan Demirel, Suliman Hashemi, D. Hagemeyer, A. Papadis, D. Heg, F. Praz, S. Stortecky, S. Windecker, T. Pilgrim","doi":"10.1136/heartjnl-2021-320531","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-320531","url":null,"abstract":"Background Rheumatic heart disease (RHD) accounts for the highest number of deaths from valvular heart disease globally. Yet, rheumatic aortic stenosis (AS) was excluded from landmark studies investigating the safety and efficacy of transcatheter aortic valve implantation (TAVI). We aimed to describe the clinical and anatomical characteristics of patients with rheumatic AS undergoing TAVI, and to compare procedural and clinical outcomes with patients undergoing TAVI for degenerative AS. Methods In a prospective TAVI registry, patients with rheumatic AS were identified based on International Classification of Diseases version 10 codes and/or a documented history of acute rheumatic fever and/or the World Heart Federation criteria for echocardiographic diagnosis of RHD, and were propensity score-matched in a 1:4 ratio to patients with degenerative AS. Results Among 2329 patients undergoing TAVI, 105 (4.5%) had rheumatic AS. Compared with patients with degenerative AS, patients with rheumatic AS were more commonly female, older, had higher surgical risk and more commonly suffered from multivalvular heart disease. In the unmatched cohort, both technical success (85.7% vs 85.9%, p=0.887) and 1-year cardiovascular mortality (10.0% vs 8.6%; HR 1.16, 95% CI 0.61 to 2.18, p=0.656) were comparable between patients with rheumatic and degenerative AS. In contrast, patients with rheumatic AS had lower rates of 30-day and 1-year cardiovascular mortality compared with matched patients with degenerative AS (1.9% vs 8.9%, adjusted HR (HRadj) 0.18, 95% CI 0.04 to 0.80, p=0.024; and 10.0% vs 20.3%, HRadj 0.44, 95% CI 0.24 to 0.84, p=0.012, respectively). Conclusion TAVI may be a safe and effective treatment strategy for selected elderly patients with rheumatic AS. Trial registration number NCT01368250.","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"1225 - 1233"},"PeriodicalIF":0.0,"publicationDate":"2022-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49462269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-17DOI: 10.1136/heartjnl-2021-320776
H. Tan, C. Remme
Despite improvements in prevention and therapy of coronary artery disease, the burden of sudden cardiac death (SCD) remains high, as SCD accounts for up to 20% of all natural deaths in Europe. Hence, there is a continued need for improved strategies to identify those individuals at risk of sudden cardiac arrest (SCA) and SCD. Sudden death is defined as a nontraumatic, unexpected fatal event occurring within 1 hour of onset of symptoms in an apparently healthy subject (or, if unwitnessed, when the victim was in good health 24 hours before the event). According to the 2015 European Society of Cardiology guidelines, the term SCD is used either when a potentially fatal cardiac condition was known to be present during life, autopsy revealed a cardiac or vascular anomaly as the probable cause of the event, or no obvious extracardiac causes were identified by postmortem examination. Based on various prospective studies, the incidence of SCD is estimated to be around 50–150 per 100 000 personyears, but variability between cohorts exists due to differences in available (clinical) information and criteria used. To accommodate these variations, the SCD definition may be refined by subcategorising it into definite, probable or possible SCD depending on a number of criteria, as indicated in figure 1. Hence, accurate assessment of SCD incidence not only relies on the availability of autopsy findings and clinical information, but also on the presence of an immediate witness to the SCD event or a ‘remote witness’ (who witnessed the victim <24 hours before the SCD was discovered). Significant differences exist between men and women in SCD incidence, underlying cardiac pathology, as well as rhythm disturbances and symptoms preceding SCD, indicating a potential need for sexdependent risk stratification and prevention strategies. Skjelbred et al investigated this issue in more detail by examining incidence rates, clinical characteristics, comorbidities and autopsy findings between male and female SCD victims across all ages in a nationwide Danish study. The results show that, overall, SCD was especially more frequent in men in young and middleaged age groups, whereas the difference between sex was less apparent in older age groups. Using information from the Danish National Patient Registry, which contains International Classification of Diseases codes from all inpatient and outpatient hospital admissions, emergency departments and consults, the authors established that male SCD victims more often had a history of cardiovascular disease and diabetes compared with female SCD victims. Another strength of the study lies within the requirement of death certificates (containing information on circumstances preceding SCD and medical history) and a forensic autopsy in cases with an unknown or uncertain manner of death. Interestingly, the distribution between definite, probable and possible SCD (defined as indicated in figure 1) was significantly different between men and w
{"title":"Sudden cardiac death: recognising hidden risk among women versus men","authors":"H. Tan, C. Remme","doi":"10.1136/heartjnl-2021-320776","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-320776","url":null,"abstract":"Despite improvements in prevention and therapy of coronary artery disease, the burden of sudden cardiac death (SCD) remains high, as SCD accounts for up to 20% of all natural deaths in Europe. Hence, there is a continued need for improved strategies to identify those individuals at risk of sudden cardiac arrest (SCA) and SCD. Sudden death is defined as a nontraumatic, unexpected fatal event occurring within 1 hour of onset of symptoms in an apparently healthy subject (or, if unwitnessed, when the victim was in good health 24 hours before the event). According to the 2015 European Society of Cardiology guidelines, the term SCD is used either when a potentially fatal cardiac condition was known to be present during life, autopsy revealed a cardiac or vascular anomaly as the probable cause of the event, or no obvious extracardiac causes were identified by postmortem examination. Based on various prospective studies, the incidence of SCD is estimated to be around 50–150 per 100 000 personyears, but variability between cohorts exists due to differences in available (clinical) information and criteria used. To accommodate these variations, the SCD definition may be refined by subcategorising it into definite, probable or possible SCD depending on a number of criteria, as indicated in figure 1. Hence, accurate assessment of SCD incidence not only relies on the availability of autopsy findings and clinical information, but also on the presence of an immediate witness to the SCD event or a ‘remote witness’ (who witnessed the victim <24 hours before the SCD was discovered). Significant differences exist between men and women in SCD incidence, underlying cardiac pathology, as well as rhythm disturbances and symptoms preceding SCD, indicating a potential need for sexdependent risk stratification and prevention strategies. Skjelbred et al investigated this issue in more detail by examining incidence rates, clinical characteristics, comorbidities and autopsy findings between male and female SCD victims across all ages in a nationwide Danish study. The results show that, overall, SCD was especially more frequent in men in young and middleaged age groups, whereas the difference between sex was less apparent in older age groups. Using information from the Danish National Patient Registry, which contains International Classification of Diseases codes from all inpatient and outpatient hospital admissions, emergency departments and consults, the authors established that male SCD victims more often had a history of cardiovascular disease and diabetes compared with female SCD victims. Another strength of the study lies within the requirement of death certificates (containing information on circumstances preceding SCD and medical history) and a forensic autopsy in cases with an unknown or uncertain manner of death. Interestingly, the distribution between definite, probable and possible SCD (defined as indicated in figure 1) was significantly different between men and w","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"992 - 993"},"PeriodicalIF":0.0,"publicationDate":"2022-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43959141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-16DOI: 10.1136/heartjnl-2021-320719
S. Peters, M. Woodward
Sex and gender are fundamental drivers of virtually all major causes of death and disease, while gender equality has been shown to improve the health of both women and men at the population level. The term ‘sex’ is generally used to describe biological characteristics, while ‘gender’ is used to address social constructs. Sex and gender are intertwined and interconnect with other key drivers of health, such as age, socioeconomic position, race and ethnicity. Over the past decade, many clinically meaningful sex differences in several aspects of cardiovascular disease (CVD) have been uncovered. Although the lifetime risks are similar when women’s longer life expectancy is considered, CVD develops about 5–10 years earlier in men. The first manifestation of CVD is also different between sexes; women are more likely to have stroke as their first event, while men are more likely to have coronary heart disease (CHD). Presenting symptoms of CHD and stroke can also be different between women and men, which may undermine timely diagnosis and management. Furthermore, although current guidelines for prevention of CVD do not generally differentiate between women and men, women often receive inferior treatments. Also, while the key modifiable risk factors for CVD are the same for women and men, including high blood pressure, smoking, high cholesterol, obesity and diabetes, there are some notable sex differences in the magnitude of the adverse effects conferred by these risk factors. For example, while diabetes is a strong risk factor for myocardial infarction (MI) in both women and men, the magnitude of the excess risk of MI conferred by diabetes is almost 50% greater in women than in men. Similarly, current smoking, as compared with never, is associated with a 55% greater excess risk of MI in women than in men. There is a strong link between gender empowerment and the female to male smoking prevalence ratio; countries with the highest women empowerment also have the highest relative female smoking prevalence. Despite growing recognition of the impact of gender in CVD, studies investigating the impact of genderrelated characteristics on the onset of CVD are scarce. Bolijn and colleagues address this important evidence gap. Using data from the Healthy Life in an Urban Setting (HELIUS) study, a multiethnic cohort study in Amsterdam, the Netherlands, they assessed the relationship between six genderrelated characteristics and the risk of incident CVD. The analyses included 18 058 participants (57% women) without prior CVD. Study participants were relatively young for a study on risk factors for CVD incidence; the mean age at study baseline was 44 years in both sexes. Despite this, 194 men and 165 women had been hospitalised for, or died of, CVD during 5 years of followup, leading to an agestandardised CVD incidence per 1000 personyears of 5.4 in men and 3.4 in women. These rates are comparable with those from the Global Burden of Disease Study, which estimated tha
{"title":"Sex and gender matter in cardiovascular disease and beyond","authors":"S. Peters, M. Woodward","doi":"10.1136/heartjnl-2021-320719","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-320719","url":null,"abstract":"Sex and gender are fundamental drivers of virtually all major causes of death and disease, while gender equality has been shown to improve the health of both women and men at the population level. The term ‘sex’ is generally used to describe biological characteristics, while ‘gender’ is used to address social constructs. Sex and gender are intertwined and interconnect with other key drivers of health, such as age, socioeconomic position, race and ethnicity. Over the past decade, many clinically meaningful sex differences in several aspects of cardiovascular disease (CVD) have been uncovered. Although the lifetime risks are similar when women’s longer life expectancy is considered, CVD develops about 5–10 years earlier in men. The first manifestation of CVD is also different between sexes; women are more likely to have stroke as their first event, while men are more likely to have coronary heart disease (CHD). Presenting symptoms of CHD and stroke can also be different between women and men, which may undermine timely diagnosis and management. Furthermore, although current guidelines for prevention of CVD do not generally differentiate between women and men, women often receive inferior treatments. Also, while the key modifiable risk factors for CVD are the same for women and men, including high blood pressure, smoking, high cholesterol, obesity and diabetes, there are some notable sex differences in the magnitude of the adverse effects conferred by these risk factors. For example, while diabetes is a strong risk factor for myocardial infarction (MI) in both women and men, the magnitude of the excess risk of MI conferred by diabetes is almost 50% greater in women than in men. Similarly, current smoking, as compared with never, is associated with a 55% greater excess risk of MI in women than in men. There is a strong link between gender empowerment and the female to male smoking prevalence ratio; countries with the highest women empowerment also have the highest relative female smoking prevalence. Despite growing recognition of the impact of gender in CVD, studies investigating the impact of genderrelated characteristics on the onset of CVD are scarce. Bolijn and colleagues address this important evidence gap. Using data from the Healthy Life in an Urban Setting (HELIUS) study, a multiethnic cohort study in Amsterdam, the Netherlands, they assessed the relationship between six genderrelated characteristics and the risk of incident CVD. The analyses included 18 058 participants (57% women) without prior CVD. Study participants were relatively young for a study on risk factors for CVD incidence; the mean age at study baseline was 44 years in both sexes. Despite this, 194 men and 165 women had been hospitalised for, or died of, CVD during 5 years of followup, leading to an agestandardised CVD incidence per 1000 personyears of 5.4 in men and 3.4 in women. These rates are comparable with those from the Global Burden of Disease Study, which estimated tha","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"994 - 995"},"PeriodicalIF":0.0,"publicationDate":"2022-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49348422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-16DOI: 10.1136/heartjnl-2021-320671
M. Lee, L. Grigg
Coarctation of the aorta has long been considered a benign condition ‘cured’ by surgery but this is no longer the case. Large studies have demonstrated a significant reduction in longterm survival of patients with repaired coarctation even after ‘successful’ surgical repair, mostly due to the accelerated effects of hypertension and cardiovascular disease. We recently demonstrated an accelerated decline in longterm survival after only the third decade of life compared with a matched normal population. Therefore, it is imperative to identify early those at highest risk of developing hypertension and is why the recently published study by Meijs et al investigating the clinical and prognostic implications of a hypertensive response to exercise after coarctation repair has significant implications for this population. While resting blood pressure has long been the most used method for the detection of hypertension given its ease, we now know that it may underestimate the true prevalence of hypertensive disease in the repaired coarctation population. Up to 60% of patients with repaired coarctation may be diagnosed with hypertension on 24hour ambulatory blood pressure monitoring (ABPM) with resting blood pressure measurements exhibiting a sensitivity of <50% in detecting an abnormal 24hour blood pressure in this population. Consequently, in the recent 2020 European Society of Cardiology (ESC) guidelines, correct blood pressure measurement in the followup of patients with coarctation was defined as 24hour ABPM on the right arm. However, 24hour ABPM can be cumbersome and poorly tolerated in some patients, particularly children. Exercise stress testing has been increasingly explored in patients with coarctation to determine the prevalence, risk factors, and importantly, the prognostic implications of a hypertensive response to exercise in this population. The multicentre, prospective registry study by Meijs et al is one of the largest studies of 675 adults with repaired coarctation and exercise stress testing at a median age of 24 years with a mean followup duration of 10.1 years. While baseline resting hypertension and hypertensive response to exercise was reported in 56% and 44% of patients, respectively, and peak exercise systolic blood pressure (SBP) was positively predictive of resting SBP and 24hour SBP at followup, it is in the stratification of patients based on their blood pressure status at baseline and at followup which is most enlightening (figure 1, Meijs et al). A similar though vast majority of patients with resting hypertension (>85%) continued to have resting hypertension at followup regardless of response to exercise at baseline suggesting little impact of exercise stress testing results on future hypertensive status when resting hypertension is already present. However, in patients with normal resting blood pressure, a greater proportion of patients who demonstrated a hypertensive response to exercise developed resting hypertension at fo
长期以来，主动脉缩窄一直被认为是一种通过手术“治愈”的良性疾病，但现在情况已不再如此。大型研究表明，即使在“成功”的手术修复后，修复后的缩窄患者的长期生存率也会显著降低，这主要是由于高血压和心血管疾病的加速作用。我们最近证明，与匹配的正常人群相比，仅在第三个十年后，长期存活率就加速下降。因此，早期识别高血压风险最高的人群是必要的，这也是Meijs等人最近发表的关于缩窄修复后运动对高血压反应的临床和预后意义的研究对这一人群具有重要意义的原因。虽然静息血压长期以来一直是检测高血压最常用的方法，因为它很容易，但我们现在知道，它可能低估了高血压疾病在修复性心肌收缩人群中的真实患病率。在24小时动态血压监测(ABPM)(静息血压测量灵敏度为85%)中，高达60%的修复性血管收缩患者可能被诊断为高血压，在随访中，无论基线时运动的反应如何，运动应激测试结果对已经存在静息高血压的未来高血压状态影响不大。然而，在静息血压正常的患者中，与运动无高血压反应的患者相比，运动后有高血压反应的患者在随访中出现静息高血压的比例更高(50% vs 35%)。虽然在随访期间，服用降压药的患者比例和服用降压药的数量总体上有所增加，但这些发现表明，在对运动有高血压反应的患者中，降压药的使用增加得更多。这些发现表明，在静息血压测量中增加运动压力测试可能对正常静息血压的患者具有最大的实际和预测性影响。虽然Meijs等人的研究并不是为了检查在血管收缩修复人群中使用降压药的影响或有效性，但令人震惊的是，尽管降压药的使用增加了，但在他们的相对年轻的成年人队列中，有66%的人在随访中患有静息性高血压。众所周知，缩窄患者的高血压非常难以治疗，其机制往往是多因素的，而且越来越复杂。虽然检查和及时治疗任何弓再阻塞是至关重要的，但许多修复性狭窄合并高血压的患者没有任何弓再阻塞的证据。3在Meijs等人目前的研究中，弓再梗阻的真正影响尚不清楚，因为只检查了静息臂腿梯度，而没有检查超声心动图或计算机断层成像参数，这些参数已被证明在检测弓再梗阻方面更为敏感。越来越多的证据表明，内皮功能障碍、交感压力反射反应减弱和动脉僵硬度增加可能导致24小时ABPM和运动应激测试中高血压的发生，即使是在血管狭窄修复后无明显弓再阻塞的患者中也是如此。因此，缩窄可能代表一种复杂的全身性血管病变，而不是通过手术修复“固定”的孤立的解剖狭窄，这进一步强调了对这类人群终身严格随访的重要性。尽管Meijs等人是一个中位年龄为24岁的年轻成人队列，但在平均10年的随访中，15%的患者发生了主要心血管事件(包括主动脉事件)。虽然基于运动收缩压峰值和静息收缩压的血压与心血管事件风险之间似乎没有关联，但值得注意的是，本研究未检查基线24小时ABPM。同样，Meijs等人也报道了在随访时，峰值运动收缩压与左心室质量指数之间没有关联。在这个队列中，运动收缩压峰值与心血管事件之间缺乏相关性，这可能与主动脉并发症的高比例有关，并且在超过一半的患者中，双尖瓣主动脉瓣的患病率很高，但并非出乎意料。我们之前在834名缩窄修复的成年幸存者的大队列中证明，与正常三尖瓣患者相比，二尖瓣主动脉瓣患者需要主动脉瓣或升主动脉介入治疗的可能性要高出四倍以上。 在目前的研究中，患有二尖瓣主动脉瓣的患者在运动后表现出较低的血压反应，这可能与主动脉瓣狭窄程度有关。澳大利亚墨尔本大学，墨尔本，维多利亚州，澳大利亚墨尔本，墨尔本皇家墨尔本医院，澳大利亚心脏研究，临床科学默多克儿童研究所，墨尔本，维多利亚州，澳大利亚，墨尔本，儿科，墨尔本大学。墨尔本，维多利亚，澳大利亚
{"title":"Implications of hypertensive response to exercise in adults with repaired coarctation of the aorta","authors":"M. Lee, L. Grigg","doi":"10.1136/heartjnl-2021-320671","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-320671","url":null,"abstract":"Coarctation of the aorta has long been considered a benign condition ‘cured’ by surgery but this is no longer the case. Large studies have demonstrated a significant reduction in longterm survival of patients with repaired coarctation even after ‘successful’ surgical repair, mostly due to the accelerated effects of hypertension and cardiovascular disease. We recently demonstrated an accelerated decline in longterm survival after only the third decade of life compared with a matched normal population. Therefore, it is imperative to identify early those at highest risk of developing hypertension and is why the recently published study by Meijs et al investigating the clinical and prognostic implications of a hypertensive response to exercise after coarctation repair has significant implications for this population. While resting blood pressure has long been the most used method for the detection of hypertension given its ease, we now know that it may underestimate the true prevalence of hypertensive disease in the repaired coarctation population. Up to 60% of patients with repaired coarctation may be diagnosed with hypertension on 24hour ambulatory blood pressure monitoring (ABPM) with resting blood pressure measurements exhibiting a sensitivity of <50% in detecting an abnormal 24hour blood pressure in this population. Consequently, in the recent 2020 European Society of Cardiology (ESC) guidelines, correct blood pressure measurement in the followup of patients with coarctation was defined as 24hour ABPM on the right arm. However, 24hour ABPM can be cumbersome and poorly tolerated in some patients, particularly children. Exercise stress testing has been increasingly explored in patients with coarctation to determine the prevalence, risk factors, and importantly, the prognostic implications of a hypertensive response to exercise in this population. The multicentre, prospective registry study by Meijs et al is one of the largest studies of 675 adults with repaired coarctation and exercise stress testing at a median age of 24 years with a mean followup duration of 10.1 years. While baseline resting hypertension and hypertensive response to exercise was reported in 56% and 44% of patients, respectively, and peak exercise systolic blood pressure (SBP) was positively predictive of resting SBP and 24hour SBP at followup, it is in the stratification of patients based on their blood pressure status at baseline and at followup which is most enlightening (figure 1, Meijs et al). A similar though vast majority of patients with resting hypertension (>85%) continued to have resting hypertension at followup regardless of response to exercise at baseline suggesting little impact of exercise stress testing results on future hypertensive status when resting hypertension is already present. However, in patients with normal resting blood pressure, a greater proportion of patients who demonstrated a hypertensive response to exercise developed resting hypertension at fo","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"1080 - 1081"},"PeriodicalIF":0.0,"publicationDate":"2022-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48885594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-16DOI: 10.1136/heartjnl-2021-320787
P. Postema, C. van der Werf
Sudden cardiac arrest (SCA) in young and otherwise healthy individuals remains an intriguing occurrence that warrants indepth evaluation. In the past decades, the origin of these cardiac arrests has finally been elucidated in many SCA victims. For example, longQT syndrome (LQTS), Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT) were found to coincide with these cases. 2 CPVT is the subject of the paper by Shimamoto and colleagues from multiple centres in Japan. CPVT is one of the rare arrhythmia syndromes, its prevalence is estimated to be approximately 1 in 10 000 individuals, and it associates with bidirectional and polymorphic ventricular tachycardia (VT), ventricular fibrillation (VF), and subsequent syncope and SCA, most often occurring in children, adolescents, and young adults. The hallmark of CPVT is the adrenergic triggering of these arrhythmias and associated symptoms in otherwise healthy individuals without overt structural heart disease and with a normal baseline ECG. Importantly, like other arrhythmia syndromes, CPVT may be inheritable, and may thus affect whole families with a propensity to SCA. In CPVT, genetic testing has a very high yield, and in most indisputable CPVT cases, a pathogenic or likely pathogenic variant in either the cardiac ryanodine receptor gene (RYR2) is identified, or, in less cases, a (usually homozygous) pathogenic or likely pathogenic variant in the cardiac calsequestrin gene (CASQ2). A critical similarity between these two genes and their resultant proteins is that both are pivotal for calcium homeostasis in the cardiac sarcoplasmatic reticulum. The unifying pathophysiological mechanism is the occurrence of spontaneous diastolic calcium release from the ventricular sarcoplasmatic reticulum, resulting in a propensity for delayed afterdepolarisations and triggering of polymorphic ventricular ectopy and VT/VF, especially during adrenergic circumstances. Although several other genes related to CPVT have been uncovered, the absence of a genetic underpinning of a proposed CPVT case currently even questions whether the patient actually has CPVT or is affected by another disease entity, in particular when a very classic phenotype including bidirectional couplets or VT is absent. Moreover, like other arrhythmia syndromes, the calling of likely or presumed pathogenic variants in CPVT is challenging. Because CPVT is of such a rare occurrence and has significant mortality rates, the indepth evaluation of CPVT is clearly hampered already by the number of available individuals. Multicentre initiatives and (inter)national collaboration are therefore key to study this syndrome in more detail and to gain the necessary insights to treat and advise these patients and their relatives more accurately. One such question among clinicians and scientists is the suggestion that de novo genetic variants (ie, not inherited from the individual’s parents but newly occurring in that particular individual)
{"title":"Catecholaminergic polymorphic ventricular tachycardia: differences in inheritance and implications for patients, families and future studies","authors":"P. Postema, C. van der Werf","doi":"10.1136/heartjnl-2021-320787","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-320787","url":null,"abstract":"Sudden cardiac arrest (SCA) in young and otherwise healthy individuals remains an intriguing occurrence that warrants indepth evaluation. In the past decades, the origin of these cardiac arrests has finally been elucidated in many SCA victims. For example, longQT syndrome (LQTS), Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT) were found to coincide with these cases. 2 CPVT is the subject of the paper by Shimamoto and colleagues from multiple centres in Japan. CPVT is one of the rare arrhythmia syndromes, its prevalence is estimated to be approximately 1 in 10 000 individuals, and it associates with bidirectional and polymorphic ventricular tachycardia (VT), ventricular fibrillation (VF), and subsequent syncope and SCA, most often occurring in children, adolescents, and young adults. The hallmark of CPVT is the adrenergic triggering of these arrhythmias and associated symptoms in otherwise healthy individuals without overt structural heart disease and with a normal baseline ECG. Importantly, like other arrhythmia syndromes, CPVT may be inheritable, and may thus affect whole families with a propensity to SCA. In CPVT, genetic testing has a very high yield, and in most indisputable CPVT cases, a pathogenic or likely pathogenic variant in either the cardiac ryanodine receptor gene (RYR2) is identified, or, in less cases, a (usually homozygous) pathogenic or likely pathogenic variant in the cardiac calsequestrin gene (CASQ2). A critical similarity between these two genes and their resultant proteins is that both are pivotal for calcium homeostasis in the cardiac sarcoplasmatic reticulum. The unifying pathophysiological mechanism is the occurrence of spontaneous diastolic calcium release from the ventricular sarcoplasmatic reticulum, resulting in a propensity for delayed afterdepolarisations and triggering of polymorphic ventricular ectopy and VT/VF, especially during adrenergic circumstances. Although several other genes related to CPVT have been uncovered, the absence of a genetic underpinning of a proposed CPVT case currently even questions whether the patient actually has CPVT or is affected by another disease entity, in particular when a very classic phenotype including bidirectional couplets or VT is absent. Moreover, like other arrhythmia syndromes, the calling of likely or presumed pathogenic variants in CPVT is challenging. Because CPVT is of such a rare occurrence and has significant mortality rates, the indepth evaluation of CPVT is clearly hampered already by the number of available individuals. Multicentre initiatives and (inter)national collaboration are therefore key to study this syndrome in more detail and to gain the necessary insights to treat and advise these patients and their relatives more accurately. One such question among clinicians and scientists is the suggestion that de novo genetic variants (ie, not inherited from the individual’s parents but newly occurring in that particular individual)","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"820 - 821"},"PeriodicalIF":0.0,"publicationDate":"2022-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49326031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-11DOI: 10.1136/heartjnl-2021-320300
T. Skjelbred, D. Rajan, J. Svane, T. Lynge, J. Tfelt‐Hansen
Objective Sudden cardiac death (SCD) is a leading cause of death and is more common among males than females. Epidemiological studies of sex differences in SCD cases of all ages are sparse. The aim of this study was to examine differences in incidence rates, clinical characteristics, comorbidities and autopsy findings between male and female SCD cases. Methods All deaths in Denmark in 2010 (54 028) were reviewed. Autopsy reports, death certificates, discharge summaries and nationwide health registries were reviewed to identify cases of SCD. Based on the available information, all deaths were subcategorised into definite, probable and possible SCD. Results A total of 6867 SCD cases were identified, of which 3859 (56%) were males and 3008 (44%) were females. Incidence rates increased with age and were higher for male population across all age groups in the adult population. Average age at time of SCD was 71 years among males compared with 79 among females (p<0.01). The greatest difference in SCD incidence between males and females was found among the 35–50 years group with an incidence rate ratio of 3.7 (95% CI: 2.8 to 4.8). Compared with female SCD victims, male SCD victims more often had cardiovascular diseases and diabetes mellitus (p<0.01). Conclusion This is the first nationwide study of sex differences in SCD across all ages. Differences in incidence rates between males and females were greatest among young adults and the middle-aged. Incidence rates of SCD among older female population approached that of the male population, despite having significantly more cardiovascular disease and diabetes in male SCD cases.
{"title":"Sex differences in sudden cardiac death in a nationwide study of 54 028 deaths","authors":"T. Skjelbred, D. Rajan, J. Svane, T. Lynge, J. Tfelt‐Hansen","doi":"10.1136/heartjnl-2021-320300","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-320300","url":null,"abstract":"Objective Sudden cardiac death (SCD) is a leading cause of death and is more common among males than females. Epidemiological studies of sex differences in SCD cases of all ages are sparse. The aim of this study was to examine differences in incidence rates, clinical characteristics, comorbidities and autopsy findings between male and female SCD cases. Methods All deaths in Denmark in 2010 (54 028) were reviewed. Autopsy reports, death certificates, discharge summaries and nationwide health registries were reviewed to identify cases of SCD. Based on the available information, all deaths were subcategorised into definite, probable and possible SCD. Results A total of 6867 SCD cases were identified, of which 3859 (56%) were males and 3008 (44%) were females. Incidence rates increased with age and were higher for male population across all age groups in the adult population. Average age at time of SCD was 71 years among males compared with 79 among females (p<0.01). The greatest difference in SCD incidence between males and females was found among the 35–50 years group with an incidence rate ratio of 3.7 (95% CI: 2.8 to 4.8). Compared with female SCD victims, male SCD victims more often had cardiovascular diseases and diabetes mellitus (p<0.01). Conclusion This is the first nationwide study of sex differences in SCD across all ages. Differences in incidence rates between males and females were greatest among young adults and the middle-aged. Incidence rates of SCD among older female population approached that of the male population, despite having significantly more cardiovascular disease and diabetes in male SCD cases.","PeriodicalId":9311,"journal":{"name":"British Heart Journal","volume":"108 1","pages":"1012 - 1018"},"PeriodicalIF":0.0,"publicationDate":"2022-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49031054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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