AVSD

AVSD
  • 文章类型: Journal Article
    功能齐全的四腔心脏的发展在很大程度上取决于分隔心房和心室的结构的正确形成。该过程的干扰通常导致允许充氧和脱氧血液混合的缺陷。房室间隔缺损(AVSD)是一类先天性心脏畸形,其特征是存在原发性房间隔缺损(pASD)。常见房室瓣(cAVV),经常还有室间隔缺损(VSD)。尽管历史上认为AVSD是由于心内膜房室垫无法正常发育和融合所致,最近的研究已经确定,抑制房室间充质复合物其他成分的发育也可导致房室间隔缺损.背侧间充质突起(DMP)在AVSD发病机制中的作用已在使用AVSD动物模型的研究中得到充分证明。此外,初步数据表明,位于主房间隔前缘的间充质帽在某些情况下也可能涉及。在这一章中,我们综述了目前已知的与AVSD发病机制相关的分子机制和动物模型。
    The development of a fully functional four-chambered heart is critically dependent on the correct formation of the structures that separate the atrial and ventricular chambers. Perturbation of this process typically results in defects that allow mixing of oxygenated and deoxygenated blood. Atrioventricular septal defects (AVSD) form a class of congenital heart malformations that are characterized by the presence of a primary atrial septal defect (pASD), a common atrioventricular valve (cAVV), and frequently also a ventricular septal defect (VSD). While AVSD were historically considered to result from failure of the endocardial atrioventricular cushions to properly develop and fuse, more recent studies have determined that inhibition of the development of other components of the atrioventricular mesenchymal complex can lead to AVSDs as well. The role of the dorsal mesenchymal protrusion (DMP) in AVSD pathogenesis has been well-documented in studies using animal models for AVSDs, and in addition, preliminary data suggest that the mesenchymal cap situated on the leading edge of the primary atrial septum may be involved in certain situations as well. In this chapter, we review what is currently known about the molecular mechanisms and animal models that are associated with the pathogenesis of AVSD.
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  • 文章类型: Journal Article
    房室间隔缺损(AVSD)由许多心脏畸形组成,这些畸形是由心内膜垫的异常发育引起的。AVSD发生在1000例活产中的0.19例,占先天性心脏缺陷的4-5%。AVSD可以分为不完整(或部分)或完整,中间或过渡。
    Atrioventricular septal defects (AVSDs) consist of a number of cardiac malformations that result from abnormal development of the endocardial cushions. AVSDs occur in 0.19 of 1000 live births and constitute 4-5 % of congenital heart defects. AVSDs can be categorized as incomplete (or partial) or complete, and intermediate or transitional.
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  • 文章类型: Journal Article
    房间隔缺损的临床表现和处理的相对简单性掩盖了发育发病机理的复杂性。这里,我们描述了房间隔的解剖发育和静脉回流到心房腔。实验模型表明,突变和自然发生的遗传变异如何影响发育步骤,从而导致椭圆形窝内的缺陷,所谓的secundum缺陷,或其他心房通信,如静脉窦缺损或原孔缺损。
    The relative simplicity of the clinical presentation and management of an atrial septal defect belies the complexity of the developmental pathogenesis. Here, we describe the anatomic development of the atrial septum and the venous return to the atrial chambers. Experimental models suggest how mutations and naturally occurring genetic variation could affect developmental steps to cause a defect within the oval fossa, the so-called secundum defect, or other interatrial communications, such as the sinus venosus defect or ostium primum defect.
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  • 文章类型: Journal Article
    心脏发育是一个由复杂的转录网络控制的微调过程,其中转录因子(TF)与其他调节层相互作用。在这一章中,我们介绍核心心脏TFs,包括Gata,手,Nkx2,Mef2,Srf,Tbx这些因子调节彼此的表达,并且还可以组合方式作用于它们的下游靶标。它们的破坏导致小鼠的各种心脏表型,人类的突变与先天性心脏缺陷有关。在本章的第二部分,我们讨论了不同级别的监管,包括顺式监管元素,染色质结构,和microRNAs,可以与转录因子相互作用,调节它们的功能,或者是下游目标。最后,提供了导致人类先天性心脏病的心脏调节网络紊乱的例子。
    Cardiac development is a fine-tuned process governed by complex transcriptional networks, in which transcription factors (TFs) interact with other regulatory layers. In this chapter, we introduce the core cardiac TFs including Gata, Hand, Nkx2, Mef2, Srf, and Tbx. These factors regulate each other\'s expression and can also act in a combinatorial manner on their downstream targets. Their disruption leads to various cardiac phenotypes in mice, and mutations in humans have been associated with congenital heart defects. In the second part of the chapter, we discuss different levels of regulation including cis-regulatory elements, chromatin structure, and microRNAs, which can interact with transcription factors, modulate their function, or are downstream targets. Finally, examples of disturbances of the cardiac regulatory network leading to congenital heart diseases in human are provided.
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  • 文章类型: Journal Article
    流入道的发育无疑是四腔心脏形成中最复杂的重塑事件之一。它涉及创建两个独立的心房腔,心房/房室间隔复合体的形成,腔静脉和冠状窦并入右心房,以及导致肺静脉回流到左心房的重塑事件。在这些过程中,房室间充质复合物,由主要的房室(AV)垫组成,主房间隔(pAS)上的间充质帽,和背侧间充质突起(DMP),起着至关重要的作用。
    The development of the inflow tract is undoubtedly one of the most complex remodeling events in the formation of the four-chambered heart. It involves the creation of two separate atrial chambers, the formation of an atrial/atrioventricular (AV) septal complex, the incorporation of the caval veins and coronary sinus into the right atrium, and the remodeling events that result in pulmonary venous return draining into the left atrium. In these processes, the atrioventricular mesenchymal complex, consisting of the major atrioventricular (AV) cushions, the mesenchymal cap on the primary atrial septum (pAS), and the dorsal mesenchymal protrusion (DMP), plays a crucial role.
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  • 文章类型: Journal Article
    背景:房室间隔缺损(AVSD)占先天性心脏畸形的4-7%。在许多中心,明确的早期修复优于先前的肺动脉绑扎和延迟的明确修复。这项研究的目的是分析21年期间AVSD修复后的长期结果。
    方法:在1999年6月至2020年12月期间,共有202名连续患者接受了手术AVSD矫正。使用双贴片技术进行手术。前瞻性收集研究数据并进行回顾性分析。主要结果是住院死亡率和总体长期免于再次手术。
    结果:手术年龄中位数为120天(IQR94-150),中位体重为5.0kg(4.2-5.3).没有患者在术后前30天内死亡。住院死亡率为0.5%(1/202例)。中位随访时间为57个月(11-121)。5年、10年和15年的再手术总自由度为91.8%,86.9%和86.9%,分别。
    结论:采用双补片技术进行AVSD修复是一种安全有效的手术,术后早期结果良好,长期再手术率低。
    BACKGROUND: Atrioventricular septal defects (AVSD) represent 4-7% of congenital cardiac malformations. Definitive early repair is favored over prior pulmonary artery banding and delayed definitive repair in many centers. The aim of this study was to analyze long-term outcomes following AVSD repair over a 21-year period.
    METHODS: A total of 202 consecutive patients underwent surgical AVSD correction between June 1999 and December 2020. Surgery was performed using the double-patch technique. The study data were prospectively collected and retrospectively analyzed. Primary outcomes were In-hospital mortality and overall long-term freedom from reoperation.
    RESULTS: Median age at operation was 120 days (IQR 94-150), median weight was 5.0 kg (4.2-5.3). None of the patients died within the first 30 postoperative days. In-hospital mortality was 0.5% (1/202 patients). Median follow-up was 57 months (11-121). Overall freedom from reoperation at 5, 10 and 15 years was 91.8%, 86.9% and 86.9%, respectively.
    CONCLUSIONS: AVSD repair with the double-patch technique is a safe and effective procedure with good early postoperative outcomes and low long-term reoperation rates.
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  • 文章类型: Journal Article
    “一张图片胜过千言万语”。给定一个图像,人类能够推断出过去的各种因果关系,电流,以及图像之外的未来事件。视觉常识生成的任务旨在为给定图像生成三个因果关系标题:(1)以前需要发生的事情,(2)当前的意图是什么,(3)之后会发生什么。然而,这项任务对机器来说是具有挑战性的,由于两个限制:现有的方法(1)直接利用传统的视觉语言转换器来学习输入模式之间的关系,以及(2)忽略目标因果关系标题之间的关系,但独立考虑每个标题。在这里,我们提出因果BART(CE-BART),它基于(1)结构化图形推理器,该推理器捕获视觉和文本表示之间的模态内和模态间关系,以及(2)因果关系生成器,该生成器通过考虑因果关系来生成因果关系字幕推断。我们证明了CE-BART在VisualCOMET和AVSD基准上的有效性。CE-BART在两个基准上都实现了SOTA性能,而广泛的消融研究和定性分析证明了性能增益和改进的可解释性。
    \"A Picture is worth a thousand words\". Given an image, humans are able to deduce various cause-and-effect captions of past, current, and future events beyond the image. The task of visual commonsense generation has the aim of generating three cause-and-effect captions for a given image: (1) what needed to happen before, (2) what is the current intent, and (3) what will happen after. However, this task is challenging for machines, owing to two limitations: existing approaches (1) directly utilize conventional vision-language transformers to learn relationships between input modalities and (2) ignore relations among target cause-and-effect captions, but consider each caption independently. Herein, we propose Cause-and-Effect BART (CE-BART), which is based on (1) a structured graph reasoner that captures intra- and inter-modality relationships among visual and textual representations and (2) a cause-and-effect generator that generates cause-and-effect captions by considering the causal relations among inferences. We demonstrate the validity of CE-BART on the VisualCOMET and AVSD benchmarks. CE-BART achieved SOTA performance on both benchmarks, while an extensive ablation study and qualitative analysis demonstrated the performance gain and improved interpretability.
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  • 文章类型: Journal Article
    在三种转化生长因子β(TGFβ)配体中,TGFβ2对心脏发育至关重要,由多种细胞类型产生,包括心肌.结缔组织疾病患者的TGFB2杂合突变导致先天性心脏缺陷和成人瓣膜畸形,包括二尖瓣脱垂(MVP)伴或不伴反流。Tgfb2种系敲除胎儿表现出多种心脏缺陷,但心肌TGFβ2在心脏发育中的作用尚未阐明。这里,通过将Tgfb2flox小鼠与Tgfb2/-杂交产生心肌Tgfb2条件敲除(CKO)胚胎;cTntCre小鼠。Tgfb2flox/-胚胎正常,可行。使用双荧光mT/mG+/-小鼠进行细胞命运作图。通过基因组PCR评估Cre介导的Tgfb2缺失。RNAscope原位杂交用于检测心肌Tgfb2表达的丢失。组织学,形态计量学,免疫组织化学,在心脏发育的不同阶段(E12.5-E18.5),对CKO和同窝对照进行原位杂交分析,以确定心肌衍生的TGFβ2在房室(AV)垫重塑和心肌发育中的作用。CKO表现出薄的心室心肌,房室垫重塑缺损和发育不完全房室间隔缺损。心肌Tgfb2的丢失导致垫成熟受损和细胞死亡失调。磷酸化SMAD2,TGFβ信号的替代,在CKOs的房室膜间质和心室心肌中“矛盾地”增加。我们的结果表明,由心肌细胞在心肌上自主作用并通过AV垫上的旁分泌信号传导产生的TGFβ2是心脏发育所必需的。
    Among the three transforming growth factor beta (TGFβ) ligands, TGFβ2 is essential for heart development and is produced by multiple cell types, including myocardium. Heterozygous mutations in TGFB2 in patients of connective tissue disorders result in congenital heart defects and adult valve malformations, including mitral valve prolapse (MVP) with or without regurgitation. Tgfb2 germline knockout fetuses exhibit multiple cardiac defects but the role of myocardial-TGFβ2 in heart development is yet to be elucidated. Here, myocardial Tgfb2 conditional knockout (CKO) embryos were generated by crossing Tgfb2flox mice with Tgfb2+/-; cTntCre mice. Tgfb2flox/- embryos were normal, viable. Cell fate mapping was done using dual-fluorescent mT/mG+/- mice. Cre-mediated Tgfb2 deletion was assessed by genomic PCR. RNAscope in situ hybridization was used to detect the loss of myocardial Tgfb2 expression. Histological, morphometric, immunohistochemical, and in situ hybridization analyses of CKOs and littermate controls at different stages of heart development (E12.5-E18.5) were used to determine the role of myocardium-derived TGFβ2 in atrioventricular (AV) cushion remodeling and myocardial development. CKOs exhibit a thin ventricular myocardium, AV cushion remodeling defects and developed incomplete AV septation defects. The loss of myocardial Tgfb2 resulted in impaired cushion maturation and dysregulated cell death. Phosphorylated SMAD2, a surrogate for TGFβ signaling, was \"paradoxically\" increased in both AV cushion mesenchyme and ventricular myocardium in the CKOs. Our results indicate that TGFβ2 produced by cardiomyocytes acting as cells autonomously on myocardium and via paracrine signaling on AV cushions are required for heart development.
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  • 文章类型: Journal Article
    罗伯特·安德森对先天性心脏畸形的形态学和理解的几乎所有方面都做出了巨大贡献,在儿科心脏病学和成人先天性心脏病的实践中,许多人现在将其称为“房室间隔缺损”(AVSD)。1982年,安东·贝克尔在阿姆斯特丹工作,他们的标志“名字是什么?”社论发表在《胸心血管外科杂志》上。当时大多数人将病变组描述为“房室管畸形”或“心内膜垫缺损”。也许更重要的是,所谓的原始口缺陷被认为是部分变异。这也是普遍认为的,当时,左房室瓣不超过二尖瓣,主动脉瓣叶裂开。除此之外,病变,如孤立的二尖瓣裂隙,向右入口开放的大型室间隔缺损和具有跨骑或越过三尖瓣的心脏是房室道畸形的变异。Anderson和Becker强调了正常心脏中房室交界处与具有共同交界处的区别,他们建议使用通用名称,“房室间隔缺损”。正如我将要讨论的,多年来,他们继续与临床心脏病学家和心脏外科医生合作,完善诊断标准,改变对这一复杂异常组的分类和理解。他们的重点始终是准确的诊断和沟通,这是在这次审查中传达的。
    Robert Anderson has made a huge contribution to almost all aspects of morphology and understanding of congenital cardiac malformations, none more so than the group of anomalies that many of those in the practice of paediatric cardiology and adult congenital heart disease now call \'Atrioventricular Septal Defect\' (AVSD). In 1982, with Anton Becker working in Amsterdam, their hallmark \'What\'s in a name?\' editorial was published in the Journal of Thoracic and Cardiovascular Surgery. At that time most described the group of lesions as \'atrioventricular canal malformation\' or \'endocardial cushion defect\'. Perhaps more significantly, the so-called ostium primum defect was thought to represent a partial variant. It was also universally thought, at that time, that the left atrioventricular valve was no more than a mitral valve with a cleft in the aortic leaflet. In addition to this, lesions such as isolated cleft of the mitral valve, large ventricular septal defects opening to the inlet of the right and hearts with straddling or overriding tricuspid valve were variations of the atrioventricular canal malformation. Anderson and Becker emphasised the differences between the atrioventricular junction in the normal heart and those with a common junction for which they recommended the generic name, \'atrioventricular septal defect\'. As I will discuss, over many years, they continued to work with clinical cardiologists and cardiac surgeons to refine diagnostic criteria and transform the classification and understanding of this complex group of anomalies. Their emphasis was always on accurate diagnosis and communication, which is conveyed in this review.
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  • 文章类型: Journal Article
    UNASSIGNED: To compare pre-operative, intra-operative, and post-operative parameters in Down syndrome (DS) and non-DS patients with atrioventricular septal defects (AVSD) and inlet ventricular septal defects (VSD) in a tertiary care hospital in Pakistan.
    UNASSIGNED: We conducted a retrospective study at Aga Khan University, Pakistan. All complete atrioventricular septal defect (CAVSD), partial atrioventricular septal defect (PAVSD), and VSD with inlet extension surgical cases from January 2007 to January 2019 were included. Patients with congenital heart diseases other than those listed above were excluded.
    UNASSIGNED: In 61 cases, 18 had DS. Median age, mean body surface area (BSA), and height were lower in DS patients compared to non-DS patients: 7.0 vs 23.0 months, 0.311 vs 0.487 m2, and 63 vs 82 cm, respectively. Bypass duration, aortic cross clamp time, post-operative ventilator hours, dose of inotropes, CICU stay, and total hospital stay were all significantly higher in the DS group. The odds ratio (955% CI) for mortality in DS babies was 6.2 (1.4, 27.1), p=0.015, after adjusting for age, weight, and height. The overall morbidity was comparable between the two groups, demonstrating no significant difference after adjusting for confounders.
    UNASSIGNED: DS babies with AVSD and inlet VSD are at a greater risk of mortality compared to non-DS babies, particularly those with CAVSD. Furthermore, DS babies undergo surgery at a younger age and require more aggressive post-operative therapy and monitoring due to the development of complications.
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