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Peer Support for Women with Heart Disease: Program Description and Evaluation of Women@Heart 心脏病妇女的同伴支持:Women@Heart项目描述和评估
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.08.008
Nadine Elias BSc, Kin , Dan Yedu Quansah PhD , Lisa A. McDonnell MSc, EMBA , Thais Coutinho MD , Robert D. Reid PhD, MBA , Hassan Mir MD, MPH, MHI , Kerri-Anne Mullen PhD
Women with heart disease face higher risks of death, cardiac events, depression, and reduced quality of life, compared to men. However, women’s participation level in cardiac rehabilitation programs remains low. Peer support programs, such as Women@Heart (W@H), led by women with lived experiences, can enhance program uptake and improve psychosocial well-being. Our pilot evaluation of W@H showed improvements in psychosocial and health behaviour measures, including coping skills and health empowerment. This program evaluation demonstrates the feasibility and effectiveness of W@H in addressing the unique needs of women with heart disease; however, further and large-scale evaluation is needed.
与男性相比,患有心脏病的女性面临更高的死亡、心脏事件、抑郁和生活质量下降的风险。然而,妇女参与心脏康复计划的水平仍然很低。同伴支持项目,如Women@Heart (W@H),由有实际经历的妇女领导,可以提高项目的接受度,改善社会心理健康。我们对W@H的试点评估显示,心理社会和健康行为措施有所改善,包括应对技能和健康赋权。该方案评估表明W@H在解决心脏病妇女的独特需求方面的可行性和有效性;然而,需要进一步和大规模的评价。
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引用次数: 0
Cardiac Tamponade As the Initial Presentation of a Thymic Neuroendocrine Tumour: A Case Report 心包填塞作为胸腺神经内分泌肿瘤的初始表现:1例报告
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.08.016
Arshdeep Singh Marwaha BSc, MD , Talha Salman BSc, MD , Goran Torlakovic MD, FRCPC , Richard Bigsby MD, FRCSC , Christopher Pekrul MD, FRCPC
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引用次数: 0
J-Valve Anchor for Valve-in-Valve Procedure to Treat Severe Aortic Stenosis with Extremely Large Annulus j型瓣膜锚钉用于瓣膜内手术治疗严重主动脉瓣狭窄伴特大环
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.08.003
Jianqiang Xu MD , Chi-chun Au MBChB , Kin Chio Li MBChB , Kevin Ka-ho Kam MBChB , Kent, Chak-yu So MBChB
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引用次数: 0
The Impact of Immortal Time Bias on Survival Estimates of Patients with Heart Failure with Improved Ejection Fraction 不朽时间偏差对射血分数改善的心力衰竭患者生存估计的影响
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.07.011
Chao-Lun Lai MD, PhD , K. Arnold Chan MD, ScD , Ting-Ju Lai MS , Ting-Chuan Wang MHA , Cheng-Hsuan Tsai MD , Zheng-Wei Chen MD , Tsung-Yu Ko MD , Min-Tsun Liao MD, PhD , Heng-Yu Pan MD , Sheng-Fu Liu MD , Hsien-Li Kao MD , Yi-Lwun Ho MD, PhD

Background

The influence of immortal time bias on estimates of survival of heart failure (HF) patients with improved ejection fraction (HFimpEF) has not been well elucidated.

Methods

This retrospective cohort study collected patients who had ever been hospitalized owing to HF between January 2012 and June 2022 at National Taiwan University Hospital (NTUH), the NTUH Hsin-Chu branch, or the NTUH Yun-Lin branch. Patients were classified as follows: (i) HF with reduced ejection fraction (HFrEF); (ii) HFimpEF; (iii) HF with mildly reduced ejection fraction (HFmrEF); and (iv) HF with preserved ejection fraction (HFpEF). Four different clinical scenarios were designed to illustrate the impact of the immortal time bias in estimating the long-term survival of patients with HFimpEF.

Results

Overall, 13,085 patients were categorized into 4 groups (HFrEF, n = 2029; HFimpEF, n = 1292; HFmrEF, n = 1849; and HFpEF, n = 7915). In our scenario 2, which retained the immortal time in HFimpEF patients, the HFimpEF group exhibited a substantially lower risk of all-cause mortality compared with the HFrEF group (adjusted hazard ratio 0.30, 95% confidence interval 0.27-0.33). After applying time-varying Cox regression analysis to appropriately account for immortal time bias in our scenario 4, model 4-2, the survival benefit was notably attenuated, yielding an adjusted hazard ratio of 0.77 (95% confidence interval 0.70-0.86) for the HFimpEF group relative to the HFrEF group.

Conclusions

Time-varying Cox regression analysis should be used to minimize the immortal time bias in retrospective studies concerning survival of patients with HFimpEF.
背景:不朽时间偏差对射血分数改善的心力衰竭(HF)患者生存估计的影响尚未得到很好的阐明。方法回顾性队列研究收集2012年1月至2022年6月在国立台湾大学附属医院(NTUH)、NTUH新竹分院和NTUH云林分院因心衰住院的患者。患者分类如下:(i) HF伴射血分数降低(HFrEF);(2) HFimpEF;(iii) HF伴轻度射血分数降低(HFmrEF);(iv)保留射血分数(HFpEF)的HF。设计了四种不同的临床场景来说明永生时间偏差对估计HFimpEF患者长期生存的影响。结果13085例患者共分为4组(HFrEF, n = 2029; HFimpEF, n = 1292; HFmrEF, n = 1849; HFpEF, n = 7915)。在我们的情景2中,HFimpEF患者保留了永生时间,与HFrEF组相比,HFimpEF组的全因死亡风险显著降低(校正风险比0.30,95%置信区间0.27-0.33)。在我们的情景4(模型4-2)中,应用时变Cox回归分析适当地解释了不朽的时间偏差后,生存获益明显减弱,相对于HFrEF组,HFimpEF组的调整风险比为0.77(95%置信区间0.70-0.86)。结论在回顾性研究HFimpEF患者的生存情况时,应采用时变Cox回归分析,以尽量减少不朽时间偏差。
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引用次数: 0
COVID-19 Vaccination Uptake and Myocarditis and/or Pericarditis Complications Among Chinese and South Asian Individuals in Ontario 安大略省华人和南亚人的COVID-19疫苗接种和心肌炎和/或心包炎并发症
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.08.006
Gordon Moe MD , Michael A. Campitelli MPH , Milan Gupta MD , Chi-Ming Chow MD , Dennis T. Ko MD , Tomi Odugbemi MSc , Isobel Sharpe MSc , Peter P. Liu MD , Joseph Y. Chu MD

Background

We previously demonstrated that the mortality rate following COVID-19 infection was higher in the Chinese population and lower in the South Asian population, compared to the general Ontario population. COVID-19 vaccines are effective in protecting against severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2)-related diseases. Whether vaccination rates and the postvaccination risk of myocarditis and/or pericarditis are similar among ethnic groups is unclear.

Methods

We conducted a population-based, retrospective cohort study using linked health datasets from Ontario to compare COVID-19 vaccination and postvaccination myocarditisand/or pericarditis rates among the Chinese, South Asian, and general populations. Populations were identified using a surname-based algorithm. The cohort was defined on December 1, 2020, coinciding with vaccine availability, and followed until June 30, 2022, for first and second dose. Myocarditis and/or pericarditis hospital admissions and emergency department visits within 42 days postvaccination were analyzed.

Results

For the first dose, vaccination uptake was highest in the general population during the first 120 days. Afterwards, the Chinese and South Asian populations had a higher vaccine rate. A similar pattern was observed for the second dose. Postvaccination myocarditis and/or pericarditis rates were lower among the Chinese population (20 per 1,000,000 first doses) and the South Asian population (21 per 1,000,000 first doses), compared to that in the general population (51 per 1,000,000 first doses), with similar findings following the second dose. The standardized morbidity ratios, comparing observed vs expected myocarditis and/or pericarditis rates postvaccination were similar across the study groups.

Conclusions

A time-dependent differential uptake and lower incidence of postvaccination myocarditis and/or pericarditis occurred among the Chinese and South Asian populations, compared to the general population. Our findings help inform the design of future research and health delivery programs.
我们之前证明,与安大略省一般人群相比,中国人群感染COVID-19后的死亡率较高,南亚人群的死亡率较低。COVID-19疫苗可有效预防严重急性呼吸综合征冠状病毒-2 (SARS-CoV-2)相关疾病。不同种族人群的疫苗接种率和接种后心肌炎和/或心包炎的风险是否相似尚不清楚。方法采用安大略省相关健康数据集开展了一项基于人群的回顾性队列研究,比较中国、南亚和一般人群中COVID-19疫苗接种和疫苗接种后心肌炎和/或心包炎的发病率。使用基于姓氏的算法确定种群。该队列于2020年12月1日确定,与疫苗可用性一致,并随访至2022年6月30日,进行第一剂和第二剂接种。分析接种疫苗后42天内心肌炎和/或心包炎住院和急诊就诊情况。结果第一次接种时,普通人群在头120天的接种率最高。之后,中国和南亚人口的疫苗接种率更高。在第二次注射中也观察到类似的情况。接种后心肌炎和/或心包炎的发病率在中国人群(20 / 100万)和南亚人群(21 / 100万)中较低,与普通人群(51 / 100万)相比,在第二次接种后也有类似的发现。标准化发病率,比较接种疫苗后观察到的与预期的心肌炎和/或心包炎发病率,在各研究组之间是相似的。结论与一般人群相比,中国和南亚人群接种后心肌炎和/或心包炎的摄取差异具有时间依赖性,且发病率较低。我们的发现有助于为未来的研究和卫生服务项目的设计提供信息。
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引用次数: 0
Impact of Transcatheter Tricuspid Valve Repair on Pre- and Post-Procedural Hospitalization Rates 经导管三尖瓣修复术对术前和术后住院率的影响
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.08.017
Allen A. Razavi MD , Aminah Sallam MD , Betemariam Sharew BA , Claire Perez MD , Mamoo Nakamura MD , Andrew Czarnecki MD , Michael E. Bowdish MD, MS , Natalia N. Egorova PhD , Joanna Chikwe MD , Derrick Y. Tam MD, PhD
The effectiveness of tricuspid transcatheter edge-to-edge repair (TEER) in reducing heart failure (HF) hospitalizations is unclear. Using Medicare and Medicaid data (2015-2019), 487 patients undergoing isolated tricuspid TEER (n = 258) or concomitant tricuspid and mitral TEER (n = 229) were identified. HF hospitalization rates were compared across 4 time periods (in days: 1-30, 31-90, 91-182, 183-365) using Poisson regression. Patients (median age: 80 years) had fewer HF hospitalizations after tricuspid TEER (adjusted rate ratio 0.55, 95% confidence interval: 0.43-0.70, P < 0.001) and when separated by concomitant tricuspid and mitral TEER (adjusted rate ratio 0.57, 95% confidence interval: 0.42-0.79, P < 0.001). In real-world analysis, tricuspid-TEER is associated with a reduced HF hospitalization rate.
三尖瓣经导管边缘到边缘修复(TEER)在减少心力衰竭(HF)住院率方面的有效性尚不清楚。使用医疗保险和医疗补助数据(2015-2019),确定了487例接受孤立三尖瓣TEER (n = 258)或三尖瓣和二尖瓣合并TEER (n = 229)的患者。采用泊松回归比较4个时间段(以天为单位:1-30、31-90、91-182、183-365)的HF住院率。患者(中位年龄:80岁)在三尖瓣TEER(校正率比0.55,95%可信区间:0.43-0.70,P < 0.001)和合并三尖瓣和二尖瓣TEER(校正率比0.57,95%可信区间:0.42-0.79,P < 0.001)后住院HF的患者较少。在实际分析中,三尖醇- teer与HF住院率降低有关。
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引用次数: 0
Risk Factors and Markers for Flecainide Toxicity in Clinical Practice 临床实践中氟氯胺毒性的危险因素和标志物
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.08.001
Karim Khadir MD, Georgiana Pintea Bentea MD, PhD, Thomas Nguyen MD, Brahim Berdaoui MD, Jose Castro Rodriguez MD

Background

Flecainide is an antiarrhythmic drug effective against both ventricular and supraventricular arrhythmias. However, its use is limited by concerns over potential severe toxicity. This study aims to characterize flecainide toxicity in current clinical practice and identify its associated risk factors and markers.

Methods

We conducted a retrospective, single-centre analysis of all patients admitted to Brugmann Hospital, Brussels, Belgium during 2014-2022 who received flecainide and had a follow-up period of a minimum of 3 months. We compared baseline characteristics of patients who developed toxicity to flecainide with those of patients who did not.

Results

A total of 300 patients were included; 39 (13%) developed flecainide toxicity, with a mortality rate of 18% among these cases. Several risk factors and markers were associated with toxicity, including baseline sinus bradycardia, chronic kidney disease, hepatic cirrhosis, drug interactions, left ventricular ejection fraction during treatment, baseline QT interval duration, and prolongation of QRS and QT intervals during treatment. Baseline ischemic or structural heart disease, with or without left ventricular dysfunction, did not emerge as a risk factor for toxicity.

Conclusions

Flecainide toxicity remains of consequence as it is associated with significant morbidity and mortality. Classic contraindications, such as left ventricular dysfunction or structural heart disease, were not associated with an increased risk of toxicity. Instead, metabolic retention factors (chronic kidney disease, hepatic cirrhosis, or drug interactions) and preclinical markers of overdose (sinus bradycardia, left ventricular ejection fraction under treatment, baseline QT interval, and prolongation of QRS and QT intervals during treatment) increased the likelihood of toxicity.
背景氟氯胺是一种抗心律失常药物,对室性和室上性心律失常都有效。然而,由于担心潜在的严重毒性,它的使用受到限制。本研究旨在描述目前临床实践中氟氯胺的毒性,并确定其相关的危险因素和标志物。方法对2014-2022年在比利时布鲁塞尔bruugmann医院接受氟氯胺治疗的所有患者进行回顾性、单中心分析,随访时间至少为3个月。我们比较了对氟氯胺产生毒性的患者和对氟氯胺没有毒性的患者的基线特征。结果共纳入300例患者;39例(13%)发生氟氯胺中毒,其中死亡率为18%。一些危险因素和标志物与毒性相关,包括基线窦性心动过缓、慢性肾病、肝硬化、药物相互作用、治疗期间左心室射血分数、基线QT间期持续时间、治疗期间QRS和QT间期延长。基线缺血性或结构性心脏病,伴或不伴左心室功能障碍,并未成为毒性的危险因素。结论氟氯胺的毒性与显著的发病率和死亡率相关,具有重要的意义。经典禁忌症,如左心室功能障碍或结构性心脏病,与毒性风险增加无关。相反,代谢滞留因子(慢性肾病、肝硬化或药物相互作用)和过量的临床前标志物(窦性心动过缓、治疗后左心室射血分数、基线QT间期、治疗期间QRS和QT间期延长)增加了毒性的可能性。
{"title":"Risk Factors and Markers for Flecainide Toxicity in Clinical Practice","authors":"Karim Khadir MD,&nbsp;Georgiana Pintea Bentea MD, PhD,&nbsp;Thomas Nguyen MD,&nbsp;Brahim Berdaoui MD,&nbsp;Jose Castro Rodriguez MD","doi":"10.1016/j.cjco.2025.08.001","DOIUrl":"10.1016/j.cjco.2025.08.001","url":null,"abstract":"<div><h3>Background</h3><div>Flecainide is an antiarrhythmic drug effective against both ventricular and supraventricular arrhythmias. However, its use is limited by concerns over potential severe toxicity. This study aims to characterize flecainide toxicity in current clinical practice and identify its associated risk factors and markers.</div></div><div><h3>Methods</h3><div>We conducted a retrospective, single-centre analysis of all patients admitted to Brugmann Hospital, Brussels, Belgium during 2014-2022 who received flecainide and had a follow-up period of a minimum of 3 months. We compared baseline characteristics of patients who developed toxicity to flecainide with those of patients who did not.</div></div><div><h3>Results</h3><div>A total of 300 patients were included; 39 (13%) developed flecainide toxicity, with a mortality rate of 18% among these cases. Several risk factors and markers were associated with toxicity, including baseline sinus bradycardia, chronic kidney disease, hepatic cirrhosis, drug interactions, left ventricular ejection fraction during treatment, baseline QT interval duration, and prolongation of QRS and QT intervals during treatment. Baseline ischemic or structural heart disease, with or without left ventricular dysfunction, did not emerge as a risk factor for toxicity.</div></div><div><h3>Conclusions</h3><div>Flecainide toxicity remains of consequence as it is associated with significant morbidity and mortality. Classic contraindications, such as left ventricular dysfunction or structural heart disease, were not associated with an increased risk of toxicity. Instead, metabolic retention factors (chronic kidney disease, hepatic cirrhosis, or drug interactions) and preclinical markers of overdose (sinus bradycardia, left ventricular ejection fraction under treatment, baseline QT interval, and prolongation of QRS and QT intervals during treatment) increased the likelihood of toxicity.</div></div>","PeriodicalId":36924,"journal":{"name":"CJC Open","volume":"7 12","pages":"Pages 1621-1628"},"PeriodicalIF":2.5,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145765690","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}
引用次数: 0
Longitudinal Changes in Diastolic Dysfunction in Heart Failure with Reduced Ejection Fraction: Clinical and Echocardiographic Associations 心力衰竭伴射血分数降低时舒张功能不全的纵向变化:临床和超声心动图相关性
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.08.009
Maha Al-Mohaissen MBBS, MRCP UK, SBIM, ArBIM , Terry Lee PHD , Mohammad Bara Qattea MBBS, SBIM, SBOC, NBE

Background

Diastolic dysfunction (DD) in heart failure with reduced ejection fraction (HFrEF) is relatively understudied, particularly regarding longitudinal changes in DD after HFrEF diagnosis and their clinical and echocardiographic associations.

Methods

This retrospective study included 360 patients with HFrEF who visited heart failure (HF) clinics in King Salman Heart Center, Riyadh, Saudi Arabia, between October 2019 and January 2020. Associations between DD grades and patients’ clinical characteristics and echocardiographic parameters at diagnosis and during follow-up were evaluated.

Results

At diagnosis, left ventricular ejection fraction (LVEF) was 26.7% ( ± 7.2%), and 43.1%, 29.4%, and 27.5% of patients had grade III, II, and I DD, respectively. After 3.4 years, 65% and 57.5% of patients with grades III and II DD, respectively, improved by at least one grade. Concordant improvements in almost all diastolic parameters were observed. DD grade improvement was predicted by increased LVEF (P < 0.001), nonischemic HF etiology, and absence of myocardial infarction (P < 0.001). No associations were found with HF medications or cardiovascular risk factors. DD improvement was independently associated with improved New York Heart Association class (P = 0.008), lower B-type natriuretic peptide level (P < 0.001), and higher systolic blood pressure (P < 0.001), regardless of LVEF, age, and time since diagnosis.

Conclusions

In HFrEF, DD improves with better LVEF and absence of ischemia or infarction. DD improvement is independently associated with improved New York Heart Association class, systolic blood pressure, and B-type natriuretic peptide level, suggesting that in HFrEF, diastolic HF coexists with and parallels systolic HF severity, and contributes independently to symptoms and hemodynamics.
背景:对心力衰竭伴射血分数降低(HFrEF)患者舒张功能障碍(DD)的研究相对较少,特别是关于HFrEF诊断后DD的纵向变化及其临床和超声心动图相关性。方法本回顾性研究纳入了2019年10月至2020年1月期间在沙特阿拉伯利雅得萨勒曼国王心脏中心心力衰竭(HF)诊所就诊的360例HFrEF患者。在诊断和随访期间评估DD分级与患者临床特征和超声心动图参数之间的关系。结果sat诊断左室射血分数(LVEF)为26.7%(±7.2%),III级、II级和I级DD分别为43.1%、29.4%和27.5%。3.4年后,65%和57.5%的III级和II级DD患者分别改善了至少一个级别。几乎所有舒张参数均有一致改善。通过LVEF升高(P < 0.001)、非缺血性HF病因和无心肌梗死(P < 0.001)预测DD等级改善。未发现与心衰药物或心血管危险因素相关。DD改善与纽约心脏协会分级改善(P = 0.008)、b型利钠肽水平降低(P < 0.001)和收缩压升高(P < 0.001)独立相关,与LVEF、年龄和诊断后时间无关。结论在HFrEF中,随着LVEF的改善和缺血、梗死的消失,DD得到改善。DD的改善与纽约心脏协会分级、收缩压和b型利钠肽水平的改善独立相关,提示在HFrEF中,舒张期HF与收缩期HF严重程度并存,并与之平行,并独立影响症状和血流动力学。
{"title":"Longitudinal Changes in Diastolic Dysfunction in Heart Failure with Reduced Ejection Fraction: Clinical and Echocardiographic Associations","authors":"Maha Al-Mohaissen MBBS, MRCP UK, SBIM, ArBIM ,&nbsp;Terry Lee PHD ,&nbsp;Mohammad Bara Qattea MBBS, SBIM, SBOC, NBE","doi":"10.1016/j.cjco.2025.08.009","DOIUrl":"10.1016/j.cjco.2025.08.009","url":null,"abstract":"<div><h3>Background</h3><div>Diastolic dysfunction (DD) in heart failure with reduced ejection fraction (HFrEF) is relatively understudied, particularly regarding longitudinal changes in DD after HFrEF diagnosis and their clinical and echocardiographic associations.</div></div><div><h3>Methods</h3><div>This retrospective study included 360 patients with HFrEF who visited heart failure (HF) clinics in King Salman Heart Center, Riyadh, Saudi Arabia, between October 2019 and January 2020. Associations between DD grades and patients’ clinical characteristics and echocardiographic parameters at diagnosis and during follow-up were evaluated.</div></div><div><h3>Results</h3><div>At diagnosis, left ventricular ejection fraction (LVEF) was 26.7% ( ± 7.2%), and 43.1%, 29.4%, and 27.5% of patients had grade III, II, and I DD, respectively. After 3.4 years, 65% and 57.5% of patients with grades III and II DD, respectively, improved by at least one grade. Concordant improvements in almost all diastolic parameters were observed. DD grade improvement was predicted by increased LVEF (<em>P</em> &lt; 0.001), nonischemic HF etiology, and absence of myocardial infarction (<em>P</em> &lt; 0.001). No associations were found with HF medications or cardiovascular risk factors. DD improvement was independently associated with improved New York Heart Association class (<em>P</em> = 0.008), lower B-type natriuretic peptide level (<em>P</em> &lt; 0.001), and higher systolic blood pressure (<em>P</em> &lt; 0.001), regardless of LVEF, age, and time since diagnosis.</div></div><div><h3>Conclusions</h3><div>In HFrEF, DD improves with better LVEF and absence of ischemia or infarction. DD improvement is independently associated with improved New York Heart Association class, systolic blood pressure, and B-type natriuretic peptide level, suggesting that in HFrEF, diastolic HF coexists with and parallels systolic HF severity, and contributes independently to symptoms and hemodynamics.</div></div>","PeriodicalId":36924,"journal":{"name":"CJC Open","volume":"7 12","pages":"Pages 1571-1583"},"PeriodicalIF":2.5,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145765776","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}
引用次数: 0
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia 安大略省西南部家族性高胆固醇血症患者的DNA变异谱
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.09.003
Sanaz Lordfard BSc , Jian Wang MD , Adam D. McIntyre BSc , Brooke A. Kennedy BSc , Robert A. Hegele MD

Background

Heterozygous familial hypercholesterolemia (HeFH) is the most prevalent inherited dyslipidemia, and it predisposes individuals to premature atherosclerotic cardiovascular disease. Genetic testing can provide a definitive diagnosis. The spectrum of causal DNA variants in Ontario patients with hypercholesterolemia is not fully defined.

Methods

In Southwestern Ontario patients with a clinical diagnosis of HeFH, we performed targeted next-generation DNA sequencing and bioinformatic analysis to determine the qualitative and quantitative spectrum of pathogenic and likely pathogenic (P/LP) variants.

Results

We observed 101 unique P/LP variants in 254 patients, of which 6 were novel LDLR pathogenic variants. We observed 23 variants of uncertain significance among 30 patients. Phenotypic severity followed a descending biochemical gradient for the LDLR P/LP variant, the APOB variant, and the variants of uncertain significance subgroups. The 3 most commonly observed P/LP variants were APOB p.R3527Q, LDLR 15.8 kb French Canadian deletion, and LDLR p.C681X Middle Eastern variant, seen in 15.4%, 7.1%, and 3.1% of patients, respectively. About three-quarters of variants originated in Europe, with others from Asia, Africa, and the Middle East.

Conclusions

This study provides a comprehensive overview of the clinical and genetic spectrum of HeFH in Southwestern Ontario. The P/LP variant diversity reflects historical colonization and later migration patterns both from across the world and interprovincially from Quebec.
背景杂合子家族性高胆固醇血症(HeFH)是最普遍的遗传性血脂异常,它使个体易患过早的动脉粥样硬化性心血管疾病。基因检测可以提供明确的诊断。安大略省高胆固醇血症患者的DNA变异谱尚未完全确定。方法对安大略省西南部临床诊断为HeFH的患者进行定向下一代DNA测序和生物信息学分析,以确定致病性和可能致病性(P/LP)变异的定性和定量谱。结果在254例患者中观察到101个独特的P/LP变异,其中6个为LDLR新致病变异。我们在30例患者中观察到23个不确定意义的变异。LDLR P/LP变异、APOB变异和不确定意义变异亚组的表型严重程度呈下降的生化梯度。最常见的3种P/LP变异是APOB p.R3527Q、LDLR 15.8 kb法裔加拿大缺失和LDLR p.C681X中东变异,分别出现在15.4%、7.1%和3.1%的患者中。大约四分之三的变异源自欧洲,其他的来自亚洲、非洲和中东。结论本研究提供了安大略省西南部HeFH的临床和遗传谱的全面概述。P/LP变异多样性反映了历史上的殖民和后来来自世界各地和魁北克省的迁移模式。
{"title":"Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia","authors":"Sanaz Lordfard BSc ,&nbsp;Jian Wang MD ,&nbsp;Adam D. McIntyre BSc ,&nbsp;Brooke A. Kennedy BSc ,&nbsp;Robert A. Hegele MD","doi":"10.1016/j.cjco.2025.09.003","DOIUrl":"10.1016/j.cjco.2025.09.003","url":null,"abstract":"<div><h3>Background</h3><div>Heterozygous familial hypercholesterolemia (HeFH) is the most prevalent inherited dyslipidemia, and it predisposes individuals to premature atherosclerotic cardiovascular disease. Genetic testing can provide a definitive diagnosis. The spectrum of causal DNA variants in Ontario patients with hypercholesterolemia is not fully defined.</div></div><div><h3>Methods</h3><div>In Southwestern Ontario patients with a clinical diagnosis of HeFH, we performed targeted next-generation DNA sequencing and bioinformatic analysis to determine the qualitative and quantitative spectrum of pathogenic and likely pathogenic (P/LP) variants.</div></div><div><h3>Results</h3><div>We observed 101 unique P/LP variants in 254 patients, of which 6 were novel <em>LDLR</em> pathogenic variants. We observed 23 variants of uncertain significance among 30 patients. Phenotypic severity followed a descending biochemical gradient for the <em>LDLR</em> P/LP variant, the <em>APOB</em> variant, and the variants of uncertain significance subgroups. The 3 most commonly observed P/LP variants were <em>APOB</em> p.R3527Q, <em>LDLR</em> 15.8 kb French Canadian deletion, and <em>LDLR</em> p.C681X Middle Eastern variant, seen in 15.4%, 7.1%, and 3.1% of patients, respectively. About three-quarters of variants originated in Europe, with others from Asia, Africa, and the Middle East.</div></div><div><h3>Conclusions</h3><div>This study provides a comprehensive overview of the clinical and genetic spectrum of HeFH in Southwestern Ontario. The P/LP variant diversity reflects historical colonization and later migration patterns both from across the world and interprovincially from Quebec.</div></div>","PeriodicalId":36924,"journal":{"name":"CJC Open","volume":"7 12","pages":"Pages 1645-1651"},"PeriodicalIF":2.5,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145765693","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}
引用次数: 0
Expert Perspectives on a Randomized Controlled Trial Comparing Novel Donor Storage Platforms to Cold-static Preservation for Heart Transplantation 一项比较新型供体储存平台与心脏移植冷静态保存的随机对照试验的专家观点
IF 2.5 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-12-01 DOI: 10.1016/j.cjco.2025.08.013
Reem Alsaeid MD , Nitish K. Dhingra MD , James Stevenson MD , Rachel Heo MD , Juglans Alvarez MD, MSc , Chun Po S. Fan PhD , Farid Foroutan MD , Natasha Aleksova MD, MSc , Heather J. Ross MD, MHSc , Michael McDonald MD , Filio Billia MD, PhD , Pierre-Emmanuel Noly MD , Maxime Tremblay-Gravel MD, MSc , Dave Nagpal MD , Lauren Truby MD, MSc , Sharon Chih MD, PhD , Vivek Rao MD, PhD , Yasbanoo Moayedi MD, MHSc, FRCPC

Background

There is a clinical need for randomized evidence to establish the comparative efficacy of organ preservation techniques for heart transplantation in Canada. In this study we used a survey to evaluate the feasibility and value of a randomized trial comparing cold-static preservation with novel donor storage platforms.

Methods

A validated survey was distributed to 30 members of the Canadian Cardiac Transplant Network, including adult heart failure cardiologists, pediatric cardiologists, and cardiovascular surgeons. Survey sections addressed demographics, clinical scenarios, perceived benefits, barriers, and willingness to participate in a randomized trial.

Results

Twenty-six experts (87%) responded: 65% were adult heart failure cardiologists, 27% were women, and 54% practiced in Ontario. Respondents were evenly distributed across career stages. All expressed interest in participating in a trial, and 88% were comfortable with study blinding. Willingness to randomize declined with anticipated ischemic times: > 80% for < 6 hours, 42% for 6-8 hours, and 31% for > 8 hours. Key benefits identified included improved donor utilization (69%), better outcomes (58%), and enhanced scientific understanding (58%). The major barrier was device cost (73%).

Conclusions

Canadian experts reported interest and perceived equipoise for a randomized trial of organ preservation strategies, although cost remains a key barrier. Such a trial could standardize protocols and strengthen the evidence base guiding heart transplantation practice.
在加拿大,临床需要随机证据来建立器官保存技术在心脏移植中的比较疗效。在这项研究中,我们通过一项调查来评估一项比较冷静态保存与新型供体储存平台的随机试验的可行性和价值。方法对加拿大心脏移植网络的30名成员进行了一项有效的调查,其中包括成人心力衰竭心脏病专家、儿科心脏病专家和心血管外科医生。调查部分涉及人口统计、临床情况、感知益处、障碍和参与随机试验的意愿。结果26位专家(87%)回应:65%为成人心力衰竭心脏病专家,27%为女性,54%在安大略省执业。受访者平均分布在不同的职业阶段。所有人都表示有兴趣参加试验,88%的人对研究盲法感到满意。随机化意愿随预期缺血时间的增加而下降:6小时为80%,6-8小时为42%,8小时为31%。确定的主要益处包括提高供体利用率(69%)、改善结果(58%)和加强科学理解(58%)。主要障碍是设备成本(73%)。结论:加拿大专家报告了对器官保存策略的随机试验的兴趣和感知平衡,尽管成本仍然是一个关键障碍。这样的试验可以规范方案,加强指导心脏移植实践的证据基础。
{"title":"Expert Perspectives on a Randomized Controlled Trial Comparing Novel Donor Storage Platforms to Cold-static Preservation for Heart Transplantation","authors":"Reem Alsaeid MD ,&nbsp;Nitish K. Dhingra MD ,&nbsp;James Stevenson MD ,&nbsp;Rachel Heo MD ,&nbsp;Juglans Alvarez MD, MSc ,&nbsp;Chun Po S. Fan PhD ,&nbsp;Farid Foroutan MD ,&nbsp;Natasha Aleksova MD, MSc ,&nbsp;Heather J. Ross MD, MHSc ,&nbsp;Michael McDonald MD ,&nbsp;Filio Billia MD, PhD ,&nbsp;Pierre-Emmanuel Noly MD ,&nbsp;Maxime Tremblay-Gravel MD, MSc ,&nbsp;Dave Nagpal MD ,&nbsp;Lauren Truby MD, MSc ,&nbsp;Sharon Chih MD, PhD ,&nbsp;Vivek Rao MD, PhD ,&nbsp;Yasbanoo Moayedi MD, MHSc, FRCPC","doi":"10.1016/j.cjco.2025.08.013","DOIUrl":"10.1016/j.cjco.2025.08.013","url":null,"abstract":"<div><h3>Background</h3><div>There is a clinical need for randomized evidence to establish the comparative efficacy of organ preservation techniques for heart transplantation in Canada. In this study we used a survey to evaluate the feasibility and value of a randomized trial comparing cold-static preservation with novel donor storage platforms.</div></div><div><h3>Methods</h3><div>A validated survey was distributed to 30 members of the Canadian Cardiac Transplant Network, including adult heart failure cardiologists, pediatric cardiologists, and cardiovascular surgeons. Survey sections addressed demographics, clinical scenarios, perceived benefits, barriers, and willingness to participate in a randomized trial.</div></div><div><h3>Results</h3><div>Twenty-six experts (87%) responded: 65% were adult heart failure cardiologists, 27% were women, and 54% practiced in Ontario. Respondents were evenly distributed across career stages. All expressed interest in participating in a trial, and 88% were comfortable with study blinding. Willingness to randomize declined with anticipated ischemic times: &gt; 80% for &lt; 6 hours, 42% for 6-8 hours, and 31% for &gt; 8 hours. Key benefits identified included improved donor utilization (69%), better outcomes (58%), and enhanced scientific understanding (58%). The major barrier was device cost (73%).</div></div><div><h3>Conclusions</h3><div>Canadian experts reported interest and perceived equipoise for a randomized trial of organ preservation strategies, although cost remains a key barrier. Such a trial could standardize protocols and strengthen the evidence base guiding heart transplantation practice.</div></div>","PeriodicalId":36924,"journal":{"name":"CJC Open","volume":"7 12","pages":"Pages 1652-1657"},"PeriodicalIF":2.5,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145765694","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}
引用次数: 0
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