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Optimal timing of oral anticoagulation initiation in patients with acute ischaemic stroke and atrial fibrillation: a comprehensive meta-analysis and systematic review. 急性缺血性卒中和房颤患者口服抗凝起始的最佳时机:一项综合荟萃分析和系统回顾。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-27 DOI: 10.1136/openhrt-2024-003002
Aravind Dilli Babu, Sahib Singh, Asher Gorantla, Mirza Faris Ali Baig, Ram Bhutani, Harika Davuluri, Lekshminarayan Raghavakurup, Bengt Herweg

The optimal timing for initiating direct oral anticoagulants (DOACs) for secondary stroke prevention in patients with atrial fibrillation and acute ischaemic stroke remains controversial due to concerns about haemorrhagic transformation. This study aimed to analyse the efficacy and safety of early versus late DOAC initiation. Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a systematic review was conducted, searching major databases (PubMed, Embase, Cochrane Library and ClinicalTrials.gov) up to May 2024. A total of 11 studies were identified, comprising nine cohort studies (75.5% weight) and two randomised controlled trials (RCTs) (24.5% weight), involving 13 020 participants. The early DOAC group (mean initiation 3.5±1.29 days) included 6250 participants, while the late group (5.7±1.25 days) had 6770 participants. Outcome measures included recurrent ischaemic stroke (RIS), intracranial haemorrhage (ICH), systemic embolism, major haemorrhage (MH), non-major haemorrhage (NMH) and all-cause mortality. Statistical analysis using the Cochrane Review Manager calculated ORs and 95% CIs via the Mantel-Haenszel random effects model. This pooled meta-analysis revealed that the early DOAC group had lower rates of RIS (2.2% vs 2.9%, OR 0.72, 95% CI 0.52 to 0.98, p=0.04, I2=40%) and ICH (0.51% vs 0.93%, OR 0.45, 95% CI 0.29 to 0.70, p<0.05, I2=0%) compared with the late DOAC group. Subgroup analysis of RCTs and cohort studies showed reduced RIS and ICH risks in the early DOAC group, with moderate heterogeneity. In the sensitivity analysis, the early group (<4 days) had a lower risk of RIS compared with the late group (>4 days) without a statistically significant impact on ICH. No significant differences in MH, NMH, systemic embolism or all-cause mortality were observed between either group; however, a limited number of RCTs and moderate heterogeneity weakened the conclusions. Additional RCTs are needed to provide more definitive insights.

由于担心出血转化,心房颤动和急性缺血性卒中患者开始使用直接口服抗凝剂(DOACs)预防继发性卒中的最佳时机仍然存在争议。本研究旨在分析早期与晚期DOAC起始的有效性和安全性。根据系统评价和荟萃分析指南的首选报告项目,进行了系统评价,检索了截至2024年5月的主要数据库(PubMed, Embase, Cochrane Library和ClinicalTrials.gov)。共纳入11项研究,包括9项队列研究(75.5%权重)和2项随机对照试验(rct)(24.5%权重),涉及13020名受试者。早期DOAC组(平均起始3.5±1.29天)包括6250名参与者,而晚期DOAC组(5.7±1.25天)有6770名参与者。结局指标包括复发性缺血性卒中(RIS)、颅内出血(ICH)、全身栓塞、大出血(MH)、非大出血(NMH)和全因死亡率。使用Cochrane Review Manager进行统计分析,通过Mantel-Haenszel随机效应模型计算or和95% ci。该汇总荟萃分析显示,与晚期DOAC组相比,早期DOAC组的RIS发生率(2.2% vs 2.9%, OR 0.72, 95% CI 0.52 ~ 0.98, p=0.04, I2=40%)和ICH发生率(0.51% vs 0.93%, OR 0.45, 95% CI 0.29 ~ 0.70, p2=0%)较低。随机对照试验和队列研究的亚组分析显示,早期DOAC组的RIS和ICH风险降低,异质性中等。在敏感性分析中,早期组(4天)对脑出血无统计学意义的影响。两组患者的MH、NMH、全身性栓塞或全因死亡率均无显著差异;然而,有限数量的随机对照试验和中等异质性削弱了结论。需要更多的随机对照试验来提供更明确的见解。
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引用次数: 0
Characterisation of patients who develop atrial fibrillation-induced cardiomyopathy. 心房纤颤性心肌病患者的特征分析。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-27 DOI: 10.1136/openhrt-2024-002955
Nikhil Ahluwalia, Shohreh Honarbakhsh, Hakam Abbass, Abhishek Joshi, Anthony W C Chow, Mehul Dhinoja, Steffen Erhard Petersen, Ross J Hunter, Guy Lloyd, Richard J Schilling

Introduction: Atrial fibrillation (AF)-induced cardiomyopathy (AIC) is retrospectively defined after normalisation of left ventricular ejection fraction (LVEF) in sinus rhythm. It is unclear why some patients develop AIC.

Hypothesis: Patients with AIC have a subtle cardiomyopathic process that precedes their AF-mediated LVEF reduction. Detailed assessment of cardiac function after successful catheter ablation will reveal this.

Objective: To evaluate the utility of measures to identify cardiomyopathic features that persist after LVEF normalisation in AIC.

Methods: Patients with rate-controlled persistent AF and LVEF<50% undergoing catheter ablation (CA) were prospectively evaluated using echocardiography, cardio-pulmonary exercise testing and serum N-terminal pro b-type natriuretic peptide (NT-proBNP) at baseline and 6 months after CA. Participants with AIC, (LVEF recovery (≥50%) and no other cause for cardiac dysfunction) were evaluated using left ventricular (LV) longitudinal strain and left atrial (LA) reservoir strain (LARS). Changes in peak oxygen consumption and the minute ventilation/carbon dioxide production slope were measured as markers of functional capacity and ventilatory inefficiency. A control group of patients with persistent AF with preserved LVEF were also enrolled.

Results: 34/41 (82.9%) participants recovered LVEF in sinus rhythm; defined as AIC. NT-proBNP levels were elevated in 18 (52.9%), and 16 reported ongoing heart failure (HF) symptoms. 10 (29.4%) had no improvement in functional capacity, and seven (20.6%) showed persistent ventilatory inefficiency. 20 (58.8%) had impaired global LV longitudinal strain with a relative apical sparing pattern. Nine (26.5%) had impaired LARS. There was an overlap of these abnormalities. 32 (94.1%) demonstrated at least one, 17 (50.0%) having no cardiovascular risk factors. Patients with preserved LVEF during persistent AF had similar demographics but a lower burden of short R-R intervals (<660 ms) on Holter monitoring.

Discussion: Abnormal structural, metabolic and HF biomarkers are seen in patients with AIC in sinus rhythm. These features may represent a precedent subtle cardiomyopathic process predisposing them to left ventricular systolic dysfunction in AF.

Trial registration number: NCT04987723.

心房颤动(AF)诱发的心肌病(AIC)是在窦性心律左心室射血分数(LVEF)正常化后被回顾性定义的。目前尚不清楚为什么有些患者会患上AIC。假设:AIC患者在af介导的LVEF降低之前有一个微妙的心肌病过程。导管消融成功后心功能的详细评估将揭示这一点。目的:评价识别AIC患者LVEF正常化后持续存在的心肌病特征的措施的效用。结果:34/41(82.9%)的参与者在窦性心律中恢复了LVEF;定义为AIC。18例(52.9%)NT-proBNP水平升高,16例报告持续心力衰竭(HF)症状。10例(29.4%)功能容量无改善,7例(20.6%)持续通气效率低下。20例(58.8%)整体左室纵向应变受损,具有相对的根尖保留模式。9例(26.5%)LARS受损。这些异常是重叠的。32例(94.1%)至少有一种心血管危险因素,17例(50.0%)无心血管危险因素。持续性房颤期间保留LVEF的患者具有相似的人口统计学特征,但短R-R间隔的负担较低(讨论:在窦性心律AIC患者中可以看到异常的结构、代谢和HF生物标志物。这些特征可能是af患者发生左心室收缩功能障碍的先期微妙心肌病过程。试验注册号:NCT04987723。
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引用次数: 0
Partnering RemoTe monitoring of Implanted Cardiac devices with Intelligent PATient Engagement - PARTICIPATE trial: a protocol for a randomised controlled trial. 植入心脏装置与智能患者参与的远程监测合作-参与试验:一项随机对照试验的方案。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-27 DOI: 10.1136/openhrt-2024-002763
Brodie Sheahen, Liliana Laranjo, Gopal Sivagangabalan, Tim Shaw, Aravinda Thiagalingam, Clara K Chow

Introduction: Cardiac implantable electronic devices (CIED) can transfer data to the healthcare team, remotely. National and international cardiac organisations recommend all patients use this technology, however patient engagement is suboptimal. Previously, in cardiovascular patients, SMS messaging services have shown improvements in patient engagement and subsequent health outcomes. This paper describes the protocol and intervention of a randomised controlled trial (RCT) to assess the feasibility of a novel CIED remote monitoring SMS patient support programme on self-efficacy in managing CIED and cardiovascular health following CIED implantation.

Methods/analysis: A two-arm RCT will be conducted of 100 participants with 1:1 allocation to intervention or control. Participants awaiting-CIED or immediately post-CIED implantation from sites throughout Australia will be invited to partake. The intervention group will receive regular SMS communication with a range of educational and self-efficacy resources, in conjunction with engagement initiatives following CIED clinical issue detection. The control group will receive CIED remote monitoring education and clinical issue management as per standard practice at their respective sites. The primary outcome will assess the patient's capacity to manage their CIED as measured by the 'Self-Efficacy Expectations After Implantable Cardioverter Defibrillator Implantation Scale'. Secondary outcomes will assess participant's ability to manage their cardiovascular condition, CIED remote monitoring, quality of life, impact on health service utilisation, cardiovascular behavioural risk factor change and motivation to improve cardiovascular health. A sample size of 100 will have a 90% power to detect a minimum difference of 1.07 in the 'Self-Efficacy Expectations After Implantable Cardioverter Defibrillator Implantation Scale' between the intervention and control group with an alpha value of 0.05.

Ethics and dissemination: Ethics approval for this study has been obtained from the Western Sydney Local Health District Human Research Ethics Committee. The project results will be published in peer-reviewed journals, at scientific meetings and in the media.

Trial registration number: ACTRN12623000702617.

心脏植入式电子设备(CIED)可以远程向医疗团队传输数据。国家和国际心脏组织建议所有患者使用这种技术,但是患者参与程度不是最佳的。此前,在心血管患者中,短信服务显示出患者参与度和随后的健康结果的改善。本文描述了一项随机对照试验(RCT)的方案和干预措施,以评估一种新型CIED远程监测SMS患者支持计划在CIED植入后管理CIED和心血管健康方面的自我效能感的可行性。方法/分析:将对100名参与者进行双臂随机对照试验,按1:1的比例分配到干预组或对照组。将邀请澳大利亚各地正在等待cied或即将完成cied植入的参与者参加。干预组将定期收到短信,其中包含一系列教育和自我效能资源,并结合CIED临床问题检测后的参与活动。对照组将按照标准做法在各自的地点接受CIED远程监测教育和临床问题管理。主要结果将通过“植入式心律转复除颤器植入后的自我效能预期量表”评估患者管理CIED的能力。次要结果将评估参与者管理心血管状况的能力、CIED远程监测、生活质量、对卫生服务利用的影响、心血管行为风险因素改变和改善心血管健康的动机。当样本量为100时,干预组与对照组在“植入式心律转复除颤器植入后自我效能预期量表”上的差异最小值为1.07,alpha值为0.05。伦理与传播:本研究已获得西悉尼地方卫生区人类研究伦理委员会的伦理批准。该项目的结果将在同行评议的期刊、科学会议和媒体上发表。试验注册号:ACTRN12623000702617。
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引用次数: 0
Heart valve clinics: an expanding role for the clinical scientists - validation of a framework for competency and certification 心脏瓣膜诊所:临床科学家验证能力和认证框架的作用不断扩大。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-25 DOI: 10.1136/openhrt-2024-002865
Can Zhou, Jerusalem Fekadu, Anna Hayes, Nathalie Aure, Masha Sivalinganathan, Lucy Bowen, Brian Campbell, Sheila Subbiah, Curtis Page, Sophie Bennett, Ronak Rajani, Camelia Demetrescu

Background: Valvular heart disease (VHD) represents a significant burden on healthcare systems worldwide, necessitating specialised care through multidisciplinary valve clinics. However, there is a lack of a standardised training and certification framework for clinical scientists and specialist physiologists (CSSPs) working within specialist valve clinics (SVCs). This study aimed to design, implement and validate a competency framework dedicated to training and certifying valve CSSPs to enhance patient outcomes and establish standardised care.

Methods: A comprehensive competency framework was developed and implemented, consisting of two levels: Enhanced Valve Clinic Training (EVCT) and Advanced Valve Clinic Training (AVCT). The programme was trialled at Guy's Valve Clinic, London, over a 12-month period. Validation was undertaken through trainee and patient feedback, including multiple-choice questions, clinical skills assessments, and patient satisfaction surveys.

Results: Nine CSSPs completed the EVCT and four the AVCT. All participants passed their certification examinations with scores ranging from 80% to 95%. The time to complete each programme averaged 6 months. After certification, clinical queries raised by EVCT trainees averaged 1.2 per session but dropped by 75% to 0.3 per session in the AVCT group, indicating greater confidence and independence in managing cases. Physician review of trainee-led cases led to additional tests or treatment changes in 23% of cases and referrals to physician clinics in 11%. Patient feedback was positive: 95% felt confident in the clinical scientists' knowledge, and 100% were satisfied with the clarity of their care plans and follow-up.

Conclusions: The implementation of this training and certification framework demonstrated enhanced clinical outcomes and care delivery in SVCs. By advocating for formal recognition and accreditation of valve clinic training, this framework could serve as a model for national and international standardisation in valve care and clinical training.

背景:瓣膜性心脏病(VHD)是全球医疗系统的一大负担,需要通过多学科瓣膜门诊进行专业治疗。然而,在专科瓣膜病诊所(SVC)工作的临床科学家和专科生理学家(CSSP)缺乏标准化的培训和认证框架。本研究旨在设计、实施和验证一个能力框架,专门用于培训和认证瓣膜CSSP,以提高患者疗效并建立标准化护理:开发并实施了一个综合能力框架,该框架由两个级别组成:方法:制定并实施了一个综合能力框架,包括两个级别:强化瓣膜门诊培训(EVCT)和高级瓣膜门诊培训(AVCT)。该计划在伦敦盖伊瓣膜诊所试行了 12 个月。通过学员和患者的反馈(包括多项选择题、临床技能评估和患者满意度调查)进行验证:结果:9 名 CSSP 完成了 EVCT,4 名完成了 AVCT。所有学员都通过了认证考试,分数从 80% 到 95% 不等。完成每项课程的时间平均为 6 个月。获得认证后,EVCT 学员提出的临床询问平均为每节课 1.2 个,而 AVCT 组则下降了 75%,为每节课 0.3 个,这表明学员在管理病例方面有了更大的信心和独立性。医生对学员主导的病例进行审查后,23%的病例需要进行额外检查或改变治疗方案,11%的病例需要转诊至医生诊所。患者的反馈是积极的:95%的患者对临床科学家的知识有信心,100%的患者对护理计划和后续治疗的清晰度表示满意:这一培训和认证框架的实施表明,SVC 的临床结果和护理服务得到了改善。通过倡导对瓣膜临床培训的正式认可和认证,该框架可作为国内和国际瓣膜护理和临床培训标准化的典范。
{"title":"Heart valve clinics: an expanding role for the clinical scientists - validation of a framework for competency and certification","authors":"Can Zhou, Jerusalem Fekadu, Anna Hayes, Nathalie Aure, Masha Sivalinganathan, Lucy Bowen, Brian Campbell, Sheila Subbiah, Curtis Page, Sophie Bennett, Ronak Rajani, Camelia Demetrescu","doi":"10.1136/openhrt-2024-002865","DOIUrl":"10.1136/openhrt-2024-002865","url":null,"abstract":"<p><strong>Background: </strong>Valvular heart disease (VHD) represents a significant burden on healthcare systems worldwide, necessitating specialised care through multidisciplinary valve clinics. However, there is a lack of a standardised training and certification framework for clinical scientists and specialist physiologists (CSSPs) working within specialist valve clinics (SVCs). This study aimed to design, implement and validate a competency framework dedicated to training and certifying valve CSSPs to enhance patient outcomes and establish standardised care.</p><p><strong>Methods: </strong>A comprehensive competency framework was developed and implemented, consisting of two levels: Enhanced Valve Clinic Training (EVCT) and Advanced Valve Clinic Training (AVCT). The programme was trialled at Guy's Valve Clinic, London, over a 12-month period. Validation was undertaken through trainee and patient feedback, including multiple-choice questions, clinical skills assessments, and patient satisfaction surveys.</p><p><strong>Results: </strong>Nine CSSPs completed the EVCT and four the AVCT. All participants passed their certification examinations with scores ranging from 80% to 95%. The time to complete each programme averaged 6 months. After certification, clinical queries raised by EVCT trainees averaged 1.2 per session but dropped by 75% to 0.3 per session in the AVCT group, indicating greater confidence and independence in managing cases. Physician review of trainee-led cases led to additional tests or treatment changes in 23% of cases and referrals to physician clinics in 11%. Patient feedback was positive: 95% felt confident in the clinical scientists' knowledge, and 100% were satisfied with the clarity of their care plans and follow-up.</p><p><strong>Conclusions: </strong>The implementation of this training and certification framework demonstrated enhanced clinical outcomes and care delivery in SVCs. By advocating for formal recognition and accreditation of valve clinic training, this framework could serve as a model for national and international standardisation in valve care and clinical training.</p>","PeriodicalId":19505,"journal":{"name":"Open Heart","volume":"11 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590863/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142731506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort. 肌球蛋白结合蛋白 C 截短变异导致的肥厚型心肌病:西班牙队列。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-24 DOI: 10.1136/openhrt-2024-002891
Maria Melendo-Viu, Rafael Salguero-Bodes, María Valverde-Gómez, Jose María Larrañaga-Moreira, Roberto Barriales, Carles Díez-Lopez, Javier Limeres Freire, Maria Luisa Peña-Peña, Pablo Garcia Pavia, Tomas Ripoll, Vicente Climent-Payá, Maria Gallego Delgado, Esther Zorio, Francisco José Bermudez Jimenez, José Manuel García-Pinilla, Irene Méndez Fernández, Maria Sabater-Molina, Ana Perez Asensio, Álvaro Marchán-Lopez, Fernando Arribas Ynsaurriaga, Hector Bueno, Julián A Palomino Doza

Background: Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is to describe the clinical characteristics and events of a molecularly homogeneous HCM cohort associated with truncating MYBPC3 variants.

Methods and results: A cohort of patients and relatives with HCM diagnosis and carrying a truncating MYBPC3 variant were retrospectively recruited. Subjects had an average follow-up of 7.77 years, with an incident HCM phenotype of 10%. They were middle-aged adult patients (47±16.8 years) without significant comorbidities or symptoms. Hypertrophy was discrete with a significative difference between probands and relatives (17.5±4 mm vs 14.6±5 mm; p<0.0001). Ejection fraction was predominantly preserved (65%±10%). Despite it being the most common clinical event, relevant heart failure (observed in 8.1% of patients) was infrequent and commonly found in the presence of a second environmental precipitating agent. ESC-HCM risk calculator and modifier factors did not correlate with the risk of major events predicting events, which were low (1.51 per 100 patients/year) and associated with the severity of HCM, abnormal QRS in the ECG and age. Genetic factors and sex were not associated with major events.

Conclusions: This is the first molecularly homogeneous, contemporary cohort, including HCM patients secondary to MYBPC3 truncating variants. Patients showed a good prognosis with a low event rate. In our cohort, major arrhythmic events were not related to measured environmental or genetic factors.

背景:肥厚型心肌病(HCM)是一种遗传性疾病,其病因变异涉及肌纤维蛋白基因。其中一个基因是肌球蛋白结合蛋白 C(MYBPC3),它曾与良好的预后有关。我们的目的是描述与截短的 MYBPC3 变异相关的分子同质性 HCM 群体的临床特征和事件:我们回顾性地招募了一批确诊为 HCM 并携带截短 MYBPC3 变体的患者及其亲属。受试者的平均随访时间为 7.77 年,HCM 表型发生率为 10%。他们都是中年成人患者(47±16.8 岁),没有明显的合并症或症状。肥大是不连续的,原发者和亲属之间存在显著差异(17.5±4 mm vs 14.6±5 mm; p结论:这是首个分子同质的现代队列,包括继发于 MYBPC3 截断变异的 HCM 患者。患者预后良好,事件发生率低。在我们的队列中,主要心律失常事件与测量的环境或遗传因素无关。
{"title":"Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort.","authors":"Maria Melendo-Viu, Rafael Salguero-Bodes, María Valverde-Gómez, Jose María Larrañaga-Moreira, Roberto Barriales, Carles Díez-Lopez, Javier Limeres Freire, Maria Luisa Peña-Peña, Pablo Garcia Pavia, Tomas Ripoll, Vicente Climent-Payá, Maria Gallego Delgado, Esther Zorio, Francisco José Bermudez Jimenez, José Manuel García-Pinilla, Irene Méndez Fernández, Maria Sabater-Molina, Ana Perez Asensio, Álvaro Marchán-Lopez, Fernando Arribas Ynsaurriaga, Hector Bueno, Julián A Palomino Doza","doi":"10.1136/openhrt-2024-002891","DOIUrl":"10.1136/openhrt-2024-002891","url":null,"abstract":"<p><strong>Background: </strong>Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is to describe the clinical characteristics and events of a molecularly homogeneous HCM cohort associated with truncating <i>MYBPC3</i> variants.</p><p><strong>Methods and results: </strong>A cohort of patients and relatives with HCM diagnosis and carrying a truncating <i>MYBPC3</i> variant were retrospectively recruited. Subjects had an average follow-up of 7.77 years, with an incident HCM phenotype of 10%. They were middle-aged adult patients (47±16.8 years) without significant comorbidities or symptoms. Hypertrophy was discrete with a significative difference between probands and relatives (17.5±4 mm vs 14.6±5 mm; p<0.0001). Ejection fraction was predominantly preserved (65%±10%). Despite it being the most common clinical event, relevant heart failure (observed in 8.1% of patients) was infrequent and commonly found in the presence of a second environmental precipitating agent. ESC-HCM risk calculator and modifier factors did not correlate with the risk of major events predicting events, which were low (1.51 per 100 patients/year) and associated with the severity of HCM, abnormal QRS in the ECG and age. Genetic factors and sex were not associated with major events.</p><p><strong>Conclusions: </strong>This is the first molecularly homogeneous, contemporary cohort, including HCM patients secondary to <i>MYBPC3</i> truncating variants. Patients showed a good prognosis with a low event rate. In our cohort, major arrhythmic events were not related to measured environmental or genetic factors.</p>","PeriodicalId":19505,"journal":{"name":"Open Heart","volume":"11 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Sudden cardiac death after acute myocarditis with arrhythmic presentation: hunting for risk predictors - a systematic review and meta-analysis.
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-21 DOI: 10.1136/openhrt-2024-002985
Maria Lucia Narducci, Federico Ballacci, Federica Giordano, Valentino Collini, Massimo Imazio

Background: Ventricular arrhythmias (VAs) frequently occur in the acute phase of myocarditis. Possible arrhythmic recurrences and the risk of sudden cardiac death (SCD) in this setting are reasons for concern, and limited data have been published to guide clinical management of these patients. The aim of the present paper is to report the incidence of major arrhythmic events, defined as sustained VA, SCD and appropriate implantable cardiac-defibrillator (ICD) treatment, in patients with acute myocarditis and ventricular arrhythmic phenotype.

Methods: We conducted a systematic review and meta-analysis following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to evaluate studies reporting long-term outcomes in patients with acute myocarditis and arrhythmic presentation. We systematically searched PubMed, EMBASE and Scopus databases for relevant studies up to 2 August 2024. Study quality was assessed by the Newcastle-Ottawa Scale. The primary outcome was a composite of SCD, VA recurrence and appropriate ICD therapy. Random-effect models were used to calculate pooled ORs and CIs.

Results: Five observational studies enrolling 322 patients were identified. The pooled proportion of patients who experienced VA recurrence was 0.41 (95% CI 0.30 to 0.53, p=0.13). An increased risk of adverse outcomes during follow-up was observed in patients presenting with monomorphic ventricular tachycardia (OR 3.77, 95% CI 1.23 to 11.53) and left ventricular ejection fraction (LVEF) <50% (OR 2.74, 95% CI 0.78 to 9.63). Gender and anteroseptal late gadolinium enhancement were not found as potential risk factors in this analysis.

Conclusions: Patients with myocarditis with arrhythmic ventricular presentation have a high recurrence rate of VA, underscoring the importance of careful monitoring and management in this patient population. Risk stratification for SCD during follow-up should be individualised, and monomorphic VA at presentation or a reduced LVEF may be markers of poor prognosis. In these cases, an ICD implantation may be cautious pending further dedicated studies.

{"title":"Sudden cardiac death after acute myocarditis with arrhythmic presentation: hunting for risk predictors - a systematic review and meta-analysis.","authors":"Maria Lucia Narducci, Federico Ballacci, Federica Giordano, Valentino Collini, Massimo Imazio","doi":"10.1136/openhrt-2024-002985","DOIUrl":"10.1136/openhrt-2024-002985","url":null,"abstract":"<p><strong>Background: </strong>Ventricular arrhythmias (VAs) frequently occur in the acute phase of myocarditis. Possible arrhythmic recurrences and the risk of sudden cardiac death (SCD) in this setting are reasons for concern, and limited data have been published to guide clinical management of these patients. The aim of the present paper is to report the incidence of major arrhythmic events, defined as sustained VA, SCD and appropriate implantable cardiac-defibrillator (ICD) treatment, in patients with acute myocarditis and ventricular arrhythmic phenotype.</p><p><strong>Methods: </strong>We conducted a systematic review and meta-analysis following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to evaluate studies reporting long-term outcomes in patients with acute myocarditis and arrhythmic presentation. We systematically searched PubMed, EMBASE and Scopus databases for relevant studies up to 2 August 2024. Study quality was assessed by the Newcastle-Ottawa Scale. The primary outcome was a composite of SCD, VA recurrence and appropriate ICD therapy. Random-effect models were used to calculate pooled ORs and CIs.</p><p><strong>Results: </strong>Five observational studies enrolling 322 patients were identified. The pooled proportion of patients who experienced VA recurrence was 0.41 (95% CI 0.30 to 0.53, p=0.13). An increased risk of adverse outcomes during follow-up was observed in patients presenting with monomorphic ventricular tachycardia (OR 3.77, 95% CI 1.23 to 11.53) and left ventricular ejection fraction (LVEF) <50% (OR 2.74, 95% CI 0.78 to 9.63). Gender and anteroseptal late gadolinium enhancement were not found as potential risk factors in this analysis.</p><p><strong>Conclusions: </strong>Patients with myocarditis with arrhythmic ventricular presentation have a high recurrence rate of VA, underscoring the importance of careful monitoring and management in this patient population. Risk stratification for SCD during follow-up should be individualised, and monomorphic VA at presentation or a reduced LVEF may be markers of poor prognosis. In these cases, an ICD implantation may be cautious pending further dedicated studies.</p>","PeriodicalId":19505,"journal":{"name":"Open Heart","volume":"11 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11603706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143067210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Composition of cardiac troponin release differs after marathon running and myocardial infarction. 马拉松长跑和心肌梗塞后心肌肌钙蛋白释放的组成不同。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-17 DOI: 10.1136/openhrt-2024-002954
K E Juhani Airaksinen, Tuomas Paana, Tuija Vasankari, Selma Salonen, Tuulia Tuominen, Anna Linko-Parvinen, Hanna-Mari Pallari, Tapio Hellman, Konsta Teppo, Olli J Heinonen, Samuli Jaakkola, Saara Wittfooth

Objectives: Elevations of cardiac troponin T (cTnT) levels are common after strenuous exercise. We assessed whether the composition of cTnT release after marathon race differs from that of acute myocardial infarction (MI).

Methods: Troponin composition was analysed in plasma samples taken from 45 runners after marathon race and from 84 patients with type 1 MI. The concentration of long cTnT (intact and mildly fragmented cTnT) was measured with a novel upconversion luminescence immunoassay, total cTnT with a commercial high-sensitivity cTnT assay, and the ratio of long to total cTnT (troponin ratio) was determined as a measure of troponin fragmentation.

Results: Total cTnT exceeded the upper reference limit (>14 ng/L) in 37 (82%) runners. Troponin ratio was lower in runners ((IQR) 0.17 (0.11-0.24) vs 0.62 (0.29-0.96), p<0.001). With increasing troponin release the troponin ratio decreased (r=-0.497, p<0.001) in marathon runners and the concentration of long cTnT remained in all runners below 8.4 ng/L. In contrast to marathon runners, troponin ratio increased (r=0.565, p<0.001) with the increase of cTnT release in patients with MI. The median total and long cTnT concentrations were lower in marathon runners than in patients with MI (25 ng/L vs 835 ng/L and 4.1 vs 385 ng/L, p<0.001 for both).

Conclusion: In contrast to type 1 MI, only a small fraction of circulating cTnT exists as intact cTnT or long molecular forms after strenuous exercise and the difference in troponin composition is more pronounced in runners with higher troponin release.

Trial registration number: NCT06000930.

目的:剧烈运动后心肌肌钙蛋白 T(cTnT)水平升高很常见。我们评估了马拉松比赛后 cTnT 释放的成分是否不同于急性心肌梗死(MI):分析了 45 名马拉松运动员和 84 名 1 型心肌梗死患者血浆样本中肌钙蛋白的组成。采用新型上转换发光免疫测定法测定了长肌钙蛋白(完整和轻度片段化的肌钙蛋白)的浓度,采用商用高灵敏度肌钙蛋白测定法测定了总肌钙蛋白的浓度,并测定了长肌钙蛋白与总肌钙蛋白的比率(肌钙蛋白比率),以此来衡量肌钙蛋白的片段化程度:结果:37 名(82%)跑步者的总 cTnT 超过了参考上限(>14 纳克/升)。跑步者的肌钙蛋白比值较低((IQR)0.17 (0.11-0.24) vs 0.62 (0.29-0.96),p):与 1 型心肌梗死相比,剧烈运动后只有一小部分循环中的 cTnT 以完整的 cTnT 或长分子形式存在,在肌钙蛋白释放量较高的跑步者中,肌钙蛋白组成的差异更为明显:NCT06000930.
{"title":"Composition of cardiac troponin release differs after marathon running and myocardial infarction.","authors":"K E Juhani Airaksinen, Tuomas Paana, Tuija Vasankari, Selma Salonen, Tuulia Tuominen, Anna Linko-Parvinen, Hanna-Mari Pallari, Tapio Hellman, Konsta Teppo, Olli J Heinonen, Samuli Jaakkola, Saara Wittfooth","doi":"10.1136/openhrt-2024-002954","DOIUrl":"10.1136/openhrt-2024-002954","url":null,"abstract":"<p><strong>Objectives: </strong>Elevations of cardiac troponin T (cTnT) levels are common after strenuous exercise. We assessed whether the composition of cTnT release after marathon race differs from that of acute myocardial infarction (MI).</p><p><strong>Methods: </strong>Troponin composition was analysed in plasma samples taken from 45 runners after marathon race and from 84 patients with type 1 MI. The concentration of long cTnT (intact and mildly fragmented cTnT) was measured with a novel upconversion luminescence immunoassay, total cTnT with a commercial high-sensitivity cTnT assay, and the ratio of long to total cTnT (troponin ratio) was determined as a measure of troponin fragmentation.</p><p><strong>Results: </strong>Total cTnT exceeded the upper reference limit (>14 ng/L) in 37 (82%) runners. Troponin ratio was lower in runners ((IQR) 0.17 (0.11-0.24) vs 0.62 (0.29-0.96), p<0.001). With increasing troponin release the troponin ratio decreased (r=-0.497, p<0.001) in marathon runners and the concentration of long cTnT remained in all runners below 8.4 ng/L. In contrast to marathon runners, troponin ratio increased (r=0.565, p<0.001) with the increase of cTnT release in patients with MI. The median total and long cTnT concentrations were lower in marathon runners than in patients with MI (25 ng/L vs 835 ng/L and 4.1 vs 385 ng/L, p<0.001 for both).</p><p><strong>Conclusion: </strong>In contrast to type 1 MI, only a small fraction of circulating cTnT exists as intact cTnT or long molecular forms after strenuous exercise and the difference in troponin composition is more pronounced in runners with higher troponin release.</p><p><strong>Trial registration number: </strong>NCT06000930.</p>","PeriodicalId":19505,"journal":{"name":"Open Heart","volume":"11 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11574483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Myocarditis after COVID-19 and influenza infections: insights from a large data set. COVID-19 和流感感染后的心肌炎:从大量数据中获得的启示。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-14 DOI: 10.1136/openhrt-2024-002973
Klara Magyar, Robert Halmosi, Kalman Toth, Tamas Alexy
{"title":"Myocarditis after COVID-19 and influenza infections: insights from a large data set.","authors":"Klara Magyar, Robert Halmosi, Kalman Toth, Tamas Alexy","doi":"10.1136/openhrt-2024-002973","DOIUrl":"10.1136/openhrt-2024-002973","url":null,"abstract":"","PeriodicalId":19505,"journal":{"name":"Open Heart","volume":"11 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of prior tuberculosis with cardiovascular status in perinatally HIV-1-infected adolescents. 围产期感染 HIV-1 病毒的青少年曾患结核病与心血管状况的关系。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-14 DOI: 10.1136/openhrt-2024-002960
Itai M Magodoro, Carlos Eduardo Guerrero-Chalela, Emma Carkeek, Nana Akua Asafu-Agyei, Nomawethu Jele, Lisa J Frigati, Landon Myer, Jennifer Jao, Mpiko Ntsekhe, Katalin A Wilkinson, Robert J Wilkinson, Heather Zar, Ntobeko Ntusi

Background: Whether, and how, co-occurring HIV-1 infection (HIV) and tuberculosis (TB) impact cardiovascular status, especially in adolescents with perinatally acquired HIV (APHIV), have not been examined. We hypothesised that APHIV with previous TB disease have worse cardiac efficiency than APHIV without TB, which is mediated by increased inflammation and disordered cardiometabolism.

Methods: APHIV in Cape Town, South Africa, completed 3T cardiovascular magnetic resonance examination and high sensitivity C reactive protein (hsCRP), fasting plasma glucose (FPG), low-density lipoprotein (LDL) and triglyceride measurement. Ventriculoarterial coupling (VAC) was estimated as the ratio of arterial elastance (Ea) to ventricular end-systolic elastance (Ees). Regression models were applied to estimate cross-sectional associations between Ea/Ees ratio and TB status, with decomposition of these associations into direct and mediated effects of hsCRP, FPG and dyslipidaemia, if any, attempted.

Results: We enrolled 43 APHIV with prior TB and 23 without TB of mean (SD) age 15.0 (1.5) and 15.4 (1.7) years, respectively. Prior TB was associated with lower Ea/Ees ratio (0.59 (0.56 to 0.64)) than no TB (0.66 (0.62 to 0.70)), which corresponded to an adjusted mean difference -0.06 (-0.12 to 0.01) (p=0.048). However, previous TB was not associated with increased hsCRP, FPG, LDL or triglycerides nor were hsCRP, FPG, LDL and triglycerides associated with Ea/Ees ruling out their mediated effects in the association between TB and cardiac efficiency.

Conclusions: Previous TB in APHIV is associated with comparatively reduced cardiac efficiency, related to altered VAC. The clinical significance of these findings requires further study, including a wider range of biomarkers of specific immune pathways.

背景:HIV-1感染(HIV)和肺结核(TB)同时存在是否以及如何影响心血管状况,尤其是围产期感染HIV的青少年(APHIV)的心血管状况,尚未得到研究。我们假设,与未患结核病的艾滋病病毒感染者相比,曾患结核病的艾滋病病毒感染者的心脏功能更差,而这是由炎症加重和心脏代谢紊乱引起的:南非开普敦的艾滋病病毒感染者完成了 3T 心血管磁共振检查和高敏 C 反应蛋白(hsCRP)、空腹血浆葡萄糖(FPG)、低密度脂蛋白(LDL)和甘油三酯的测量。心室-动脉耦合(VAC)是根据动脉弹性(Ea)与心室收缩末期弹性(Ees)的比值估算的。应用回归模型估算 Ea/Ees 比值与肺结核状况之间的横截面关联,并尝试将这些关联分解为 hsCRP、FPG 和血脂异常(如有)的直接和中介效应:我们共招募了 43 名曾患肺结核的艾滋病病毒感染者和 23 名未患肺结核的艾滋病病毒感染者,他们的平均(标清)年龄分别为 15.0 (1.5) 岁和 15.4 (1.7)岁。曾患肺结核的 Ea/Ees 比值(0.59(0.56 至 0.64))低于未患肺结核的 Ea/Ees 比值(0.66(0.62 至 0.70)),调整后的平均差异为-0.06(-0.12 至 0.01)(P=0.048)。然而,既往肺结核与 hsCRP、FPG、低密度脂蛋白或甘油三酯的增加无关,hsCRP、FPG、低密度脂蛋白和甘油三酯也与 Ea/Ees 无关,因此排除了它们在肺结核与心脏效率之间的关联中的介导作用:结论:APHIV 曾患肺结核会导致心脏效率相对降低,这与 VAC 的改变有关。这些发现的临床意义还需要进一步研究,包括更广泛的特定免疫途径生物标志物。
{"title":"Association of prior tuberculosis with cardiovascular status in perinatally HIV-1-infected adolescents.","authors":"Itai M Magodoro, Carlos Eduardo Guerrero-Chalela, Emma Carkeek, Nana Akua Asafu-Agyei, Nomawethu Jele, Lisa J Frigati, Landon Myer, Jennifer Jao, Mpiko Ntsekhe, Katalin A Wilkinson, Robert J Wilkinson, Heather Zar, Ntobeko Ntusi","doi":"10.1136/openhrt-2024-002960","DOIUrl":"10.1136/openhrt-2024-002960","url":null,"abstract":"<p><strong>Background: </strong>Whether, and how, co-occurring HIV-1 infection (HIV) and tuberculosis (TB) impact cardiovascular status, especially in adolescents with perinatally acquired HIV (APHIV), have not been examined. We hypothesised that APHIV with previous TB disease have worse cardiac efficiency than APHIV without TB, which is mediated by increased inflammation and disordered cardiometabolism.</p><p><strong>Methods: </strong>APHIV in Cape Town, South Africa, completed 3T cardiovascular magnetic resonance examination and high sensitivity C reactive protein (hsCRP), fasting plasma glucose (FPG), low-density lipoprotein (LDL) and triglyceride measurement. Ventriculoarterial coupling (VAC) was estimated as the ratio of arterial elastance (Ea) to ventricular end-systolic elastance (Ees). Regression models were applied to estimate cross-sectional associations between Ea/Ees ratio and TB status, with decomposition of these associations into direct and mediated effects of hsCRP, FPG and dyslipidaemia, if any, attempted.</p><p><strong>Results: </strong>We enrolled 43 APHIV with prior TB and 23 without TB of mean (SD) age 15.0 (1.5) and 15.4 (1.7) years, respectively. Prior TB was associated with lower Ea/Ees ratio (0.59 (0.56 to 0.64)) than no TB (0.66 (0.62 to 0.70)), which corresponded to an adjusted mean difference -0.06 (-0.12 to 0.01) (p=0.048). However, previous TB was not associated with increased hsCRP, FPG, LDL or triglycerides nor were hsCRP, FPG, LDL and triglycerides associated with Ea/Ees ruling out their mediated effects in the association between TB and cardiac efficiency.</p><p><strong>Conclusions: </strong>Previous TB in APHIV is associated with comparatively reduced cardiac efficiency, related to altered VAC. The clinical significance of these findings requires further study, including a wider range of biomarkers of specific immune pathways.</p>","PeriodicalId":19505,"journal":{"name":"Open Heart","volume":"11 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network. 爱尔兰淀粉样变性网络中因 T60A(p.Thr80Ala) 变异导致的遗传性转甲状腺素淀粉样变性病的病谱。
IF 2.8 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-11-11 DOI: 10.1136/openhrt-2024-002906
Katie Hewitt, Neasa Starr, Zara Togher, Saadah Sulong, Joseph P Morris, Michael Alexander, Mark Coyne, Katie Murphy, Gerard Giblin, Sinéad M Murphy, Emer Joyce

Background: Variant transthyretin amyloidosis (ATTRv) is a hereditary multisystem disorder with clinical spectrum ranging from predominant cardiomyopathy to polyneuropathy. In the Irish population, the T60A mutation has been previously recognised as the most common genotype.

Objectives: The aim of this study is to describe the diagnostic and phenotypic spectrum of patients with T60A ATTRv attending an Irish Expert Amyloidosis Network.

Methods: In this observational study design, the medical, laboratory and radiological records of patients enrolled in our amyloidosis registry with a confirmed genotype diagnosis of T60A ATTRv were reviewed.

Results: A cohort of 24 patients (12 female) met criteria for inclusion. The median age at diagnosis was 65 years (IQR 59.5-66.5) and median follow-up 44 months (IQR 31-58). Carpal tunnel syndrome was the initial manifestation in almost half (46%) of patients. Overall, a mixed cardioneuro phenotype was demonstrated including autonomic (75%), small (58%) and large fibre (46%) neuropathy largely predating a cardiac phenotype consisting of heart failure (63%), atrial arrhythmia (42%) and bradycardia (13%).

Conclusion: The contemporary clinical spectrum of T60A ATTRv in Ireland is one of patients typically presenting in the seventh decade with an already manifest neuropathy phenotype, largely predating a cardiac phenotype dominated by heart failure.

背景:变异型转甲状腺素淀粉样变性(ATTRv)是一种遗传性多系统疾病,临床表现从主要的心肌病到多发性神经病不等。在爱尔兰人群中,T60A 突变被认为是最常见的基因型:本研究旨在描述在爱尔兰淀粉样变性专家网络就诊的 T60A ATTRv 患者的诊断和表型谱:在这一观察性研究设计中,我们回顾了淀粉样变性登记处登记的确诊为T60A ATTRv基因型患者的医疗、实验室和放射记录:结果:24 名患者(12 名女性)符合纳入标准。诊断时的中位年龄为 65 岁(IQR 59.5-66.5),中位随访时间为 44 个月(IQR 31-58)。近一半(46%)的患者最初表现为腕管综合征。总体而言,患者表现为混合型心脏神经表型,包括自主神经(75%)、小纤维神经(58%)和大纤维神经(46%)病变,主要早于由心力衰竭(63%)、房性心律失常(42%)和心动过缓(13%)组成的心脏表型:结论:爱尔兰 T60A ATTRv 的当代临床表现是,患者通常在第七个十年发病,神经病变表型已经显现,心脏表型主要是心力衰竭。
{"title":"Spectrum of hereditary transthyretin amyloidosis due to T60A(p.Thr80Ala) variant in an Irish Amyloidosis Network.","authors":"Katie Hewitt, Neasa Starr, Zara Togher, Saadah Sulong, Joseph P Morris, Michael Alexander, Mark Coyne, Katie Murphy, Gerard Giblin, Sinéad M Murphy, Emer Joyce","doi":"10.1136/openhrt-2024-002906","DOIUrl":"10.1136/openhrt-2024-002906","url":null,"abstract":"<p><strong>Background: </strong>Variant transthyretin amyloidosis (ATTRv) is a hereditary multisystem disorder with clinical spectrum ranging from predominant cardiomyopathy to polyneuropathy. In the Irish population, the T60A mutation has been previously recognised as the most common genotype.</p><p><strong>Objectives: </strong>The aim of this study is to describe the diagnostic and phenotypic spectrum of patients with T60A ATTRv attending an Irish Expert Amyloidosis Network.</p><p><strong>Methods: </strong>In this observational study design, the medical, laboratory and radiological records of patients enrolled in our amyloidosis registry with a confirmed genotype diagnosis of T60A ATTRv were reviewed.</p><p><strong>Results: </strong>A cohort of 24 patients (12 female) met criteria for inclusion. The median age at diagnosis was 65 years (IQR 59.5-66.5) and median follow-up 44 months (IQR 31-58). Carpal tunnel syndrome was the initial manifestation in almost half (46%) of patients. Overall, a mixed cardioneuro phenotype was demonstrated including autonomic (75%), small (58%) and large fibre (46%) neuropathy largely predating a cardiac phenotype consisting of heart failure (63%), atrial arrhythmia (42%) and bradycardia (13%).</p><p><strong>Conclusion: </strong>The contemporary clinical spectrum of T60A ATTRv in Ireland is one of patients typically presenting in the seventh decade with an already manifest neuropathy phenotype, largely predating a cardiac phenotype dominated by heart failure.</p>","PeriodicalId":19505,"journal":{"name":"Open Heart","volume":"11 2","pages":""},"PeriodicalIF":2.8,"publicationDate":"2024-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11555102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142625544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Open Heart
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