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XGBoost, A Novel Explainable AI Technique, in the Prediction of Myocardial Infarction: A UK Biobank Cohort Study. XGBoost,一种新的可解释的人工智能技术,在心肌梗死的预测:英国生物银行队列研究。
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2022-01-01 DOI: 10.1177/11795468221133611
Alexander Moore, Max Bell

We wanted to assess if "Explainable AI" in the form of extreme gradient boosting (XGBoost) could outperform traditional logistic regression in predicting myocardial infarction (MI) in a large cohort. Two machine learning methods, XGBoost and logistic regression, were compared in predicting risk of MI. The UK Biobank is a population-based prospective cohort including 502 506 volunteers with active consent, aged 40 to 69 years at recruitment from 2006 to 2010. These subjects were followed until end of 2019 and the primary outcome was myocardial infarction. Both models were trained using 90% of the cohort. The remaining 10% was used as a test set. Both models were equally precise, but the regression model classified more of the healthy class correctly. XGBoost was more accurate in identifying individuals who later suffered a myocardial infarction. Receiver operator characteristic (ROC) scores are class size invariant. In this metric XGBoost outperformed the logistic regression model, with ROC scores of 0.86 (accuracy 0.75 (CI ±0.00379) and 0.77 (accuracy 0.77 (CI ± 0.00369) respectively. Secondly, we demonstrate how SHAPley values can be used to visualize and interpret the predictions made by XGBoost models, both for the cohort test set and for individuals. The XGBoost machine learning model shows very promising results in evaluating risk of MI in a large and diverse population. This model can be used, and visualized, both for individual assessments and in larger cohorts. The predictions made by the XGBoost models, points toward a future where "Explainable AI" may help to bridge the gap between medicine and data science.

我们想评估极端梯度增强(XGBoost)形式的“可解释人工智能”在预测大型队列中的心肌梗死(MI)方面是否优于传统的逻辑回归。两种机器学习方法,XGBoost和logistic回归,在预测心肌梗死风险方面进行了比较。UK Biobank是一项基于人群的前瞻性队列研究,包括50256名自愿志愿者,年龄在40至69岁之间,招募时间为2006年至2010年。这些受试者被跟踪到2019年底,主要结局是心肌梗死。两个模型都使用90%的队列进行训练。剩余的10%作为测试集。两种模型都同样精确,但回归模型对健康人群的分类更准确。XGBoost在识别后来患有心肌梗死的个体方面更准确。接收算子特征(ROC)分数是类大小不变的。在该指标中,XGBoost优于logistic回归模型,ROC评分分别为0.86(准确率0.75 (CI±0.00379))和0.77(准确率0.77 (CI±0.00369))。其次,我们展示了SHAPley值如何用于可视化和解释XGBoost模型对队列测试集和个体的预测。XGBoost机器学习模型在评估大量不同人群的心肌梗死风险方面显示出非常有希望的结果。这个模型既可以用于个人评估,也可以用于更大的群体。XGBoost模型的预测指出,未来“可解释的人工智能”可能有助于弥合医学和数据科学之间的差距。
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引用次数: 13
Hypothyroidism Is Associated With Longer Hospital Stay Following Implantation Of Left Ventricular Assist Device. 植入左心室辅助装置后甲状腺功能减退与住院时间延长相关
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-12-04 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211058761
Sakiru O Isa, Olajide Buhari, Muminat Adeniran-Isa, Nischit Baral, Govinda Adhikari, Basel AbdulAzeem, Pramod Savarapu, Oyebimpe Adekolujo, Mustafa Hassan, Adedayo Adeboye

Background: There has been a steady and consistent rise in the use of left ventricular assist devices in the management of patients with advanced heart failure. Hypothyroidism also remains one of the most common endocrine conditions with a significant impact on the development and overall outcomes of heart failure. The authors analyzed the National Inpatient Sample to evaluate the effect of hypothyroidism on the in-hospital outcomes of patients with end-stage heart failure following the placement of left ventricular assist device.

Methods: The national inpatient sample was queried to identify all adult patients who had LVAD placement from 2004 to 2014. They were subsequently divided into those with hypothyroidism and those without hypothyroidism. The primary outcome was in-hospital mortality. Other outcomes were acute kidney injury, length, and cost of hospitalization. Logistic regression models were created to determine the outcomes of interest.

Results: Of 2643 patients in the study, 5.4% had hypothyroidism, and 94.6% did not. The hypothyroid patients were significantly older compared to the non-hypothyroid patients (mean age 58.6 years vs 49.95 years, P-value <.0001). Both groups had similar gender composition. In-hospital mortality was similar across both groups. However, there was a higher incidence of acute kidney injury (AKI) in the hypothyroid group (adjusted odds ratio [aOR 1.83, P-value <.001]). Hypothyroid patients had longer hospital stays (adjusted mean difference [aMD] 5.19, P-value .0001). Hospital charges were also higher in the hypothyroid group.

Conclusion: This study found that LVAD is associated with longer hospital stay in hypothyroid patients with heart failure.

背景:在晚期心力衰竭患者的治疗中,左心室辅助装置的使用一直稳步上升。甲状腺功能减退也是最常见的内分泌疾病之一,对心力衰竭的发展和总体结果有重大影响。作者分析了全国住院患者样本,以评估甲状腺功能减退对放置左心室辅助装置后终末期心力衰竭患者住院结局的影响。方法:查询2004 - 2014年全国住院患者样本,确定所有放置LVAD的成年患者。随后,他们被分为有甲状腺功能减退和没有甲状腺功能减退的两组。主要终点是住院死亡率。其他结果包括急性肾损伤、住院时间和住院费用。建立了逻辑回归模型来确定感兴趣的结果。结果:在2643例患者中,5.4%有甲状腺功能减退,94.6%没有。甲状腺功能减退患者明显比非甲状腺功能减退患者年龄大(平均年龄58.6岁vs 49.95岁,p值p值p值0.0001)。甲状腺功能减退组的住院费用也较高。结论:本研究发现左室辅助功能与甲状腺功能减退合并心力衰竭患者住院时间延长有关。
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引用次数: 0
Perimyocarditis Following COVID-19 Vaccination. COVID-19疫苗接种后心包炎。
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-11-24 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211056634
Mariana Tinoco, Sérgio Leite, Bebiana Faria, Sara Cardoso, Pedro Von Hafe, Geraldo Dias, Filipa Cardoso, Tamara Pereira, Inocência Machado, António Lourenço

A 39-year-old male was admitted in the emergency room with chest pain. He had been given the second dose of Pfizer-BioNTech COVID-19 vaccine 3 days before. The patient denied taking any other medication beyond the usual. He didn't feel sick in the previous days/weeks. Laboratory studies revealed elevated serum levels of troponin and C-reactive protein. An autoantibody screen and a serologic panel to detect common viruses were negative. A cardiac MRI showed myocardial edema/inflammation and confirmed the diagnosis of perimyocarditis which was considered to be a consequence of COVID-19 vaccination. Physicians should be aware of the possibility of cardiovascular complications after COVID-19 vaccination.

一名39岁男性因胸痛住进急诊室。他在3天前接种了第二剂辉瑞-BioNTech新冠肺炎疫苗。病人否认除平时外服用任何其他药物。前几天/前几周他没有感到不舒服。实验室研究显示血清肌钙蛋白和C反应蛋白水平升高。检测常见病毒的自身抗体筛查和血清学小组均为阴性。心脏MRI显示心肌水肿/炎症,并证实诊断为心肌炎周,这被认为是接种新冠肺炎疫苗的结果。医生应意识到接种新冠肺炎疫苗后出现心血管并发症的可能性。
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引用次数: 5
Predictors of In-hospital Mortality in Cardiogenic Shock Patients on Vasoactive or Inotropic Support. 血管活性或肌力支持下心源性休克患者住院死亡率的预测因素。
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-10-27 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211049449
Shuktika Nandkeolyar, Tanya Doctorian, Gary Fraser, Rachel Ryu, Colleen Fearon, David Tryon, Whitney Kagabo, Dmitry Abramov, Christopher Hauschild, Liset Stoletniy, Anthony Hilliard, Antoine Sakr

Background: Though controversial, the short-duration in-patient use of inotropes in cardiogenic shock (CS) remain an ACC/AHA Class IIa indication, and are frequently used in the initial treatment of CS. We evaluated in-patient mortality and effect on mortality risk of commonly used vasoactive inotropic medications for the medical management of SCAI stage B and C cardiogenic shock patients in a tertiary care cardiac care unit: dobutamine, dopamine, milrinone, and norepinephrine.

Methods: We retrospectively evaluated 342 patients who received dobutamine, milrinone, dopamine, norepinephrine or a combination of these medications for SCAI stage B and C cardiogenic shock. Cox proportional hazards were used to form longitudinal mortality predictions.

Results: Overall in-patient mortality was 18%. Each 1 µg/kg/minute increase in dobutamine independently corresponded to a 15% increase in risk of mortality. High dose dobutamine >3 µg/kg/minute is associated with 3-fold increased risk compared to ⩽3 µg/kg/minute (P < .001). Use of milrinone, norepinephrine, and dopamine were not independently associated with mortality.

Conclusion: We demonstrate that the overall in-hospital mortality of SCAI stage B and C cardiogenic shock patients medically managed on inotropes was not in excess of prior studies. Dobutamine was independently associated with mortality, while other vasoactive inotropic medications were not. Inotropes remain a feasible method of managing SCAI stage B and C cardiogenic shock.

背景:虽然存在争议,但在心源性休克(CS)中短时间住院使用肌力药物仍然是ACC/AHA IIa类适应症,并且经常用于CS的初始治疗。我们评估了三级心脏护理单位对SCAI B期和C期心源性休克患者医疗管理中常用的血管活性肌力药物(多巴酚丁胺、多巴胺、米力酮和去甲肾上腺素)的住院死亡率和对死亡率风险的影响。方法:我们回顾性评估了342例接受多巴酚丁胺、米力酮、多巴胺、去甲肾上腺素或这些药物联合治疗SCAI B期和C期心源性休克的患者。Cox比例风险用于形成纵向死亡率预测。结果:总体住院死亡率为18%。多巴酚丁胺每增加1微克/千克/分钟,死亡风险就增加15%。与< 3µg/kg/min相比,>3µg/kg/min的高剂量多巴酚丁胺与风险增加3倍相关(P结论:我们证明,在医学上使用肌力药物治疗的SCAI B期和C期心源性休克患者的总体住院死亡率并不超过先前的研究。多巴酚丁胺与死亡率独立相关,而其他血管活性肌力药物则与之无关。肌力药物仍然是治疗SCAI B期和C期心源性休克的可行方法。
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引用次数: 5
Right Heart Morphology and Its Association With Excessive and Deficient Cardiac Visceral Adipose Tissue. 右心形态及其与心脏内脏脂肪组织过多和不足的关系。
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-09-29 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211041330
Domagoj Vučić, Nikola Bijelić, Edi Rođak, Jasmina Rajc, Boris Dumenčić, Tatjana Belovari, Damir Mihić, Kristina Selthofer-Relatić

Visceral adipose tissue is an independent risk factor for the development of atherosclerotic coronary disease, arterial hypertension, diabetes and metabolic syndrome. Right heart morphology often involves the presence of adipose tissue, which can be quantified by non-invasive imaging methods. The last decade brought a wealth of new insights into the function and morphology of adipose tissue, with great emphasis on its role in the pathogenesis of heart disease. Cardiac adipose tissue is involved in thermogenesis, mechanical protection of the heart and energy storage. However, it can also be an endocrine organ that synthesises numerous pro-inflammatory and anti-inflammatory cytokines, the effect of which is accomplished by paracrine and vasocrine mechanisms. Visceral adipose tissue has several compartments that differ in their embryological origin and vascularisation. Deficiency of cardiac adipose tissue, often due to chronic pathological conditions such as oncological diseases or chronic infectious diseases, predicts increased mortality and morbidity. To date, knowledge about the influence of visceral adipose tissue on cardiac morphology is limited, especially the effect on the morphology of the right heart in a state of excess or deficient visceral adipose tissue.

内脏脂肪组织是发生动脉粥样硬化性冠状动脉疾病、动脉高血压、糖尿病和代谢综合征的独立危险因素。右心形态学通常涉及脂肪组织的存在,这可以通过非侵入性成像方法进行量化。近十年来,人们对脂肪组织的功能和形态有了大量新的认识,重点是脂肪组织在心脏病发病机制中的作用。心脏脂肪组织参与产热、心脏的机械保护和能量储存。然而,它也可以是一个内分泌器官,合成许多促炎和抗炎细胞因子,其作用是通过旁分泌和血管分泌机制完成的。内脏脂肪组织有几个室室,它们在胚胎起源和血管化方面不同。心脏脂肪组织的缺乏,通常是由于慢性病理状况,如肿瘤疾病或慢性传染病,预示着死亡率和发病率的增加。迄今为止,关于内脏脂肪组织对心脏形态的影响的知识有限,特别是在内脏脂肪组织过剩或不足的状态下对右心形态的影响。
{"title":"Right Heart Morphology and Its Association With Excessive and Deficient Cardiac Visceral Adipose Tissue.","authors":"Domagoj Vučić,&nbsp;Nikola Bijelić,&nbsp;Edi Rođak,&nbsp;Jasmina Rajc,&nbsp;Boris Dumenčić,&nbsp;Tatjana Belovari,&nbsp;Damir Mihić,&nbsp;Kristina Selthofer-Relatić","doi":"10.1177/11795468211041330","DOIUrl":"https://doi.org/10.1177/11795468211041330","url":null,"abstract":"<p><p>Visceral adipose tissue is an independent risk factor for the development of atherosclerotic coronary disease, arterial hypertension, diabetes and metabolic syndrome. Right heart morphology often involves the presence of adipose tissue, which can be quantified by non-invasive imaging methods. The last decade brought a wealth of new insights into the function and morphology of adipose tissue, with great emphasis on its role in the pathogenesis of heart disease. Cardiac adipose tissue is involved in thermogenesis, mechanical protection of the heart and energy storage. However, it can also be an endocrine organ that synthesises numerous pro-inflammatory and anti-inflammatory cytokines, the effect of which is accomplished by paracrine and vasocrine mechanisms. Visceral adipose tissue has several compartments that differ in their embryological origin and vascularisation. Deficiency of cardiac adipose tissue, often due to chronic pathological conditions such as oncological diseases or chronic infectious diseases, predicts increased mortality and morbidity. To date, knowledge about the influence of visceral adipose tissue on cardiac morphology is limited, especially the effect on the morphology of the right heart in a state of excess or deficient visceral adipose tissue.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211041330"},"PeriodicalIF":3.0,"publicationDate":"2021-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a4/5a/10.1177_11795468211041330.PMC8485260.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39481392","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: 1
Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Marker. 心外膜脂肪组织:一个新兴心血管风险标记背后的遗传学。
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-07-03 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211029244
João Adriano Sousa, Maria Isabel Mendonça, Marco Serrão, Sofia Borges, Eva Henriques, Sónia Freitas, Margarida Tentem, Marina Santos, Pedro Freitas, António Ferreira, Graça Guerra, António Drumond, Roberto Palma Reis

Evidence points epicardial adipose tissue (EAT) as an emerging cardiovascular risk marker. Whether genetic polymorphisms linked with atherosclerosis are associated with higher EAT is still unknown. We aim to assess the role of genetic burden of atherosclerosis and its association to EAT in a cohort of asymptomatic individuals without coronary disease. A total of 996 participants were prospectively enrolled in a single Portuguese center. EAT volume was measured by Cardiac Computed Tomography and participants were distributed into 2 groups, above and below median EAT. SNPs were genotyped and linked to their respective pathophysiological axes. A multiplicative genetic risk score (mGRS) was constructed, representing the genetic burden of the studied SNPs. To evaluate the association between genetics and EAT, we compared both groups by global mGRS, mGRS by functional axes, and SNPs individually. Individuals above-median EAT were older, had a higher body mass index (BMI) and higher prevalence of hypertension, metabolic syndrome, diabetes, and dyslipidemia. They presented higher GRS, that remained an independent predictor of higher EAT volumes. The group with more EAT consistently presented higher polymorphic burden across numerous pathways. After adjustment, age, BMI, and mGRS of each functional axis emerged as independently related to higher EAT volumes. Amongst the 33 SNPs, MTHFR677 polymorphism emerged as the only significant and independent predictor of higher EAT volumes. Patients with higher polymorphism burden for atherosclerosis present higher EAT volumes. We present the first study in a Portuguese population, evaluating the genetic profile of EAT through GWAS and GRS, casting further insight into this complicated matter.

有证据表明,心外膜脂肪组织(EAT)是一个新兴的心血管危险标志物。与动脉粥样硬化相关的基因多态性是否与较高的EAT相关尚不清楚。我们的目的是在无冠状动脉疾病的无症状个体队列中评估动脉粥样硬化遗传负担的作用及其与EAT的关系。在单个葡萄牙语中心共纳入996名参与者。通过心脏计算机断层扫描测量EAT体积,并将参与者分为高于和低于中位EAT的两组。snp被基因分型,并与各自的病理生理轴相关联。构建乘法遗传风险评分(mGRS),代表所研究的snp的遗传负担。为了评估遗传与EAT之间的关系,我们比较了两组的总体mGRS、功能轴mGRS和单个snp。高于中位数饮食的个体年龄较大,身体质量指数(BMI)较高,高血压、代谢综合征、糖尿病和血脂异常的患病率较高。他们表现出较高的GRS,这仍然是较高进食量的独立预测因子。具有更多EAT的组在许多途径中始终表现出更高的多态性负担。调整后,年龄、BMI和各功能轴的mGRS与较高的EAT体积独立相关。在33个snp中,MTHFR677多态性是唯一显著且独立的高EAT量预测因子。多态性负担较高的动脉粥样硬化患者存在较高的EAT体积。我们首次在葡萄牙人群中进行研究,通过GWAS和GRS评估EAT的遗传特征,进一步深入了解这一复杂问题。
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引用次数: 4
Best Practices in Specialized Amyloidosis Centers in the United States: A Survey of Cardiologists, Nurses, Patients, and Patient Advocates. 美国专业淀粉样变性中心的最佳实践:对心脏病专家、护士、患者和患者倡导者的调查。
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-05-29 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211015230
Jose Nativi-Nicolau, Nitasha Sarswat, Johana Fajardo, Muriel Finkel, Younos Abdulsattar, Adam Castaño, Lori Klein, Alexandra Haddad-Angulo

Background: Because transthyretin amyloid cardiomyopathy (ATTR-CM) poses unique diagnostic and therapeutic challenges, referral of patients with known or suspected disease to specialized amyloidosis centers is recommended. These centers have developed strategic practices to provide multidisciplinary comprehensive care, but their best practices have not yet been well studied as a group.

Methods: A qualitative survey was conducted by telephone/email from October 2019 to February 2020 among eligible healthcare providers with experience in the management of ATTR-CM at US amyloidosis centers, patients with ATTR-CM treated at amyloidosis centers, and patient advocates from amyloidosis patient support groups.

Results: Fifteen cardiologists and 9 nurse practitioners/nurses from 15 selected amyloidosis centers participated in the survey, with 16 patients and 4 patient advocates. Among participating healthcare providers, the most frequently cited center best practices were diagnostic capability, multidisciplinary care, and time spent on patient care; the greatest challenges involved coordination of patient care. Patients described the "ideal" amyloidosis program as one that provides physicians with expertise in ATTR-CM, sufficient time with patients, comprehensive patient care, and opportunities to participate in research/clinical trials. The majority of centers host patient support group meetings, and patient advocacy groups provide support for centers with physician/patient education and research.

Conclusions: Amyloidosis centers offer comprehensive care based on staff expertise in ATTR-CM, a multidisciplinary approach, advanced diagnostics, and time dedicated to patient care and education. Raising awareness of amyloidosis centers' best practices among healthcare providers can reinforce the benefits of early referral and comprehensive care for patients with ATTR-CM.

背景:由于转甲状腺素淀粉样心肌病(atr - cm)具有独特的诊断和治疗挑战,建议已知或疑似疾病的患者转诊到专门的淀粉样变性中心。这些中心已经制定了提供多学科综合护理的战略实践,但它们的最佳实践尚未作为一个整体得到很好的研究。方法:从2019年10月至2020年2月,通过电话/电子邮件对在美国淀粉样变中心管理atr - cm的合格医疗保健提供者、在淀粉样变中心治疗的atr - cm患者以及淀粉样变患者支持团体的患者倡导者进行定性调查。结果:15个选定的淀粉样变性中心的15名心脏病专家和9名护工/护士参与了调查,其中16名患者和4名患者倡导者。在参与的医疗保健提供者中,最常被引用的中心最佳实践是诊断能力、多学科护理和用于患者护理的时间;最大的挑战涉及病人护理的协调。患者将“理想的”淀粉样变项目描述为:为医生提供atr - cm方面的专业知识,与患者有足够的时间,全面的患者护理,以及参与研究/临床试验的机会。大多数中心举办患者支持小组会议,患者倡导小组为中心提供医生/患者教育和研究方面的支持。结论:淀粉样变中心提供基于atr - cm工作人员专业知识、多学科方法、先进诊断和致力于患者护理和教育的时间的全面护理。提高医疗保健提供者对淀粉样变中心最佳实践的认识,可以加强对atr - cm患者的早期转诊和综合护理的益处。
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引用次数: 8
CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease. 22q11.2染色体区域的CNV应成为先天性心脏病婴儿的早期疑点
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-05-24 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211016870
Tatiana Pineda, Ignacio Zarante, Angela Camila Paredes, Juan Pablo Rozo, Martha C Reyes, Olga María Moreno-Niño

Background: Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations. We tested CNVs in the 22q11.2 chromosomal region by MLPA in a cohort of Colombian patients with isolated CHD to establish the frequency of these CNVs in the cohort.

Methods: CNVs analysis of 22q11.2 by MLPA were performed in 32 patients with apparently isolate CHD during the neonatal period. Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist.

Results: CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). The typical deletion was found in 6 patients (18.75%) and atypical 1.5 Mb duplication was found in 1 patient (3.1%).

Conclusions: CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.

背景:先天性心脏病(CHD)是最常见的先天性畸形,它经常作为一种孤立的缺陷被发现,其病因尚未完全明了。虽然大多数病例的病因是多因素的,但也可能继发于染色体异常、单基因疾病、微重复或微缺失等。22q11.2的拷贝数变异(CNVs)与多种症状有关,包括先天性心脏病、胸腺增生症以及发育和行为表现。我们通过 MLPA 检测了一组哥伦比亚孤立性先天性心脏病患者的 22q11.2 染色体区域的 CNVs,以确定这些 CNVs 在该组患者中的频率:通过 MLPA 对 32 名新生儿期明显患有孤立性先天性心脏病的患者进行了 22q11.2 的 CNVs 分析。参与者来自波哥大的不同医院,他们接受了心脏病专家和临床遗传学家的临床评估:结果:7 名患者(21.9%)在 22q11.2 染色体区域发现了 CNV。结果:在 7 名患者(21.9%)中发现了 22q11.2 染色体区域的 CNV,其中 6 名患者(18.75%)发现了典型的缺失,1 名患者(3.1%)发现了 1.5 Mb 的非典型重复:22q11.2中的CNV是孤立性先天性心脏病患者的常见发现,因此,尽管这些患者没有其他临床表现,也应及早进行检测。MLPA是一种非常有用的分子方法,能提供准确的诊断。
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引用次数: 0
SARS-CoV-2 and Pre-existing Vascular Diseases: Guilt by Association? SARS-CoV-2和先前存在的血管疾病:有关联吗?
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-05-16 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211010705
Grigorios Voulalas, Janice Tsui, Luciano Candilio, Daryll Baker

Severe Acute Respiratory Syndrome coronavirus-2 has rapidly spread and emerged as a pandemic. Although evidence on its pathophysiology is growing, there are still issues that should be taken into consideration, including its effects on pre-existing peripheral vascular disease. The aim of this review is to describe the thrombotic and endothelial dysfunctions caused by SARS-CoV-2, assess if cardiovascular comorbidities render an individual susceptible to the infection and determine the course of pre-existing vascular diseases in infected individuals. A search through MEDLINE, PubMed and EMBASE was conducted and more than 260 articles were identified and 97 of them were reviewed; the rest were excluded because they were not related to the aim of this study. Hypertension, cardiovascular disease, diabetes mellitus and cerebrovascular diseases comprised 24.30% ± 16.23%, 13.29% ± 12.88%, 14.82% ± 7.57% and 10.82% ± 11.64% of the cohorts reviewed, respectively. Arterial and venous thrombotic complications rocketed up to 31% in severely infected individuals in some studies. We suggest that hypertension, cardiovascular diseases, diabetes and cerebrovascular diseases may render an individual susceptible to severe COVID-19 infection. Pre-existing vascular diseases are expected to deteriorate with SARS-CoV-2 infection as a consequence of its increased thrombotic burden and the development of endothelial dysfunction. COVID-19 has emerged only a few months ago and it is premature to predict the long-term effects to the vascular system. Its disturbances of the coagulation mechanisms and effects on vascular endothelium will likely provoke a surge of vascular complications in the coming months.

严重急性呼吸综合征冠状病毒-2已迅速传播并成为大流行。尽管关于其病理生理学的证据越来越多,但仍有一些问题需要考虑,包括其对预先存在的周围血管疾病的影响。本综述的目的是描述由SARS-CoV-2引起的血栓和内皮功能障碍,评估心血管合并症是否使个体易受感染,并确定感染个体先前存在的血管疾病的病程。通过MEDLINE、PubMed和EMBASE进行检索,发现260多篇文章,对其中97篇进行了综述;其余的被排除,因为它们与本研究的目的无关。高血压、心血管疾病、糖尿病和脑血管疾病分别占总队列的24.30%±16.23%、13.29%±12.88%、14.82%±7.57%和10.82%±11.64%。在一些研究中,严重感染个体的动脉和静脉血栓并发症飙升至31%。我们认为,高血压、心血管疾病、糖尿病和脑血管疾病可能使个体容易感染COVID-19。由于SARS-CoV-2感染增加了血栓形成负担和内皮功能障碍的发展,预计原有血管疾病会随着SARS-CoV-2感染而恶化。COVID-19几个月前才出现,现在预测对血管系统的长期影响还为时过早。它对凝血机制的干扰和对血管内皮的影响可能会在未来几个月引发血管并发症的激增。
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引用次数: 2
Child with Kawasaki Disease Complicated by A Single Right Coronary Artery. 川崎病合并单一右冠状动脉的患儿。
IF 3 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2021-04-13 eCollection Date: 2021-01-01 DOI: 10.1177/11795468211010700
Ryota Nakagawa, Hirotaka Ishido, Yoichi Iwamoto, Mai Sekine, Taichi Momose, Shoyo Tanikawa, Koichi Moriwaki, Satoshi Masutani

A 3-year-old boy was referred to our hospital for management of Kawasaki disease at 5 days of illness. Echocardiographic examination on admission suggested aneurysmal dilation of the right coronary artery and a possible aorta-left main trunk connection. However, detailed echocardiography at 12 days of illness revealed an abnormal bifurcation of the proximal right coronary artery and no real connection of the aorta-left main trunk, all of which indicated the presence of a single right coronary artery. These diagnoses were confirmed by selective coronary angiography, which was performed later. Considering the difficulties in diagnosing congenital coronary anomalies, which may increase the risk of future fatal events, knowing the disease entity of the congenital coronary arterial anomaly is important for the accurate evaluation of coronary arteries in patients with Kawasaki disease. To the best of our knowledge, this is the first case report of a patient with Kawasaki disease complicated by a single right coronary artery; however, following a search of the literature, we found a brief conference abstract written in Japanese relating to the same clinical condition.

一名3岁男童在发病5天后转介至本院治疗川崎病。入院时超声心动图检查提示右冠状动脉动脉瘤样扩张,可能有主动脉-左主干连接。然而,在发病12天后,详细的超声心动图显示右冠状动脉近端分叉异常,主动脉与左主干没有真正的连接,所有这些都表明存在单一的右冠状动脉。这些诊断通过选择性冠状动脉造影证实,这是后来进行的。考虑到先天性冠状动脉异常的诊断困难,可能会增加未来致命事件的风险,了解先天性冠状动脉异常的疾病实体对于川崎病患者冠状动脉的准确评估至关重要。据我们所知,这是首例川崎病合并单根右冠状动脉的病例报告;然而,在查阅文献后,我们发现了一份简短的会议摘要,用日语写的,与相同的临床情况有关。
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Clinical Medicine Insights. Cardiology
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