British Heart Journal最新文献

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}

{"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}