Ebstein’s anomaly

Ebstein 异常
  • 文章类型: Journal Article
    背景/目标:过去怀孕期间服用的锂与胎儿/新生儿畸形的风险增加有关,但临床医生认为,新生儿不治疗母亲的潜在精神疾病更糟糕。我们开始审查在怀孕期间接受锂治疗一段时间的女性不良胎儿结局的现有证据。方法:我们搜索了四个数据库和一个登记册,以使用适当的术语来寻找报告怀孕期间服用锂的妇女的新生儿结局的论文。我们采用PRISMA声明,并在所有作者中使用Delphi轮评估资格,并使用Cochrane偏见风险工具评估纳入研究的RoB。结果:我们发现了28项符合条件的研究,其中10项符合纳入荟萃分析的标准。这些研究涉及1402名新生儿和2595名暴露于锂的妇女。总的来说,系统评价发现,仅在妊娠早期和妊娠期间的任何时间服用锂的妇女的不良妊娠结局略有增加,虽然荟萃分析发现心脏或其他畸形的几率增加,早产,并且在怀孕期间的任何时候都有大尺寸的锂。结论:计划怀孕的BD妇女应考虑在正常时停用锂;在妊娠早期和怀孕期间的任何时候使用锂会增加一些不良妊娠结局的几率。一旦怀孕开始,没有理由停止锂;密切的胎儿监测和定期的血液锂水平可以消除怀孕期间锂管理的一些缺点。
    Background/Objectives: Lithium taken during pregnancy was linked in the past with increased risk for foetal/newborn malformations, but clinicians believe that it is worse for newborn children not to treat the mothers\' underlying psychiatric illness. We set to review the available evidence of adverse foetal outcomes in women who received lithium treatment for some time during their pregnancy. Methods: We searched four databases and a register to seek papers reporting neonatal outcomes of women who took lithium during their pregnancy by using the appropriate terms. We adopted the PRISMA statement and used Delphi rounds among all the authors to assess eligibility and the Cochrane Risk-of-Bias tool to evaluate the RoB of the included studies. Results: We found 28 eligible studies, 10 of which met the criteria for inclusion in the meta-analysis. The studies regarded 1402 newborn babies and 2595 women exposed to lithium. Overall, the systematic review found slightly increased adverse pregnancy outcomes for women taking lithium for both the first trimester only and any time during pregnancy, while the meta-analysis found increased odds for cardiac or other malformations, preterm birth, and a large size for gestational age with lithium at any time during pregnancy. Conclusions: Women with BD planning a pregnancy should consider discontinuing lithium when euthymic; lithium use during the first trimester and at any time during pregnancy increases the odds for some adverse pregnancy outcomes. Once the pregnancy has started, there is no reason for discontinuing lithium; close foetal monitoring and regular blood lithium levels may obviate some disadvantages of lithium administration during pregnancy.
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  • 文章类型: Journal Article
    Ebstein的异常,1866年由威廉·埃布斯坦博士首次描述,占先天性心脏缺陷的0.3-0.5%,占先天性三尖瓣异常的40%。Ebstein异常影响三尖瓣的发育与广泛变化的形态和,因此,临床表现。相关的先天性心脏病变倾向于在年轻患者中更常见,甚至可能是出现的原因。介绍可能与胎儿生命中最极端的形式不同,在成年后期无症状诊断。最有症状的患者在新生儿期需要重症监护支持。本文总结和分析了有关Ebstein异常的文献,并为调查提供了一个框架,管理,以及对这些患者的随访,无论是通过胎儿检测还是在成年后期出现。对于每个年龄组,临床表现,需要诊断性调查,自然史,和管理进行了描述。对Ebstein异常患者可用的手术选择进行了详细的分析,从最初的单叶修复开始到最近的圆锥修复及其修改。该审查还评估了怀孕对Ebstein血液循环的影响,反之亦然,Ebstein对妊娠结局的影响。最后,所附附录中提供了结构化超声心动图方案和对多学科团队全面讨论有用的关键信息.
    Ebstein\'s anomaly, first described in 1866 by Dr William Ebstein, accounts for 0.3-0.5% of congenital heart defects and represents 40% of congenital tricuspid valve abnormalities. Ebstein\'s anomaly affects the development of the tricuspid valve with widely varying morphology and, therefore, clinical presentation. Associated congenital cardiac lesions tend to be found more often in younger patients and may even be the reason for presentation. Presentation can vary from the most extreme form in fetal life, to asymptomatic diagnosis late in adult life. The most symptomatic patients need intensive care support in the neonatal period. This article summarizes and analyzes the literature on Ebstein\'s anomaly and provides a framework for the investigation, management, and follow-up of these patients, whether they present via fetal detection or late in adult life. For each age group, the clinical presentation, required diagnostic investigations, natural history, and management are described. The surgical options available for patients with Ebstein\'s anomaly are detailed and analyzed, starting from the initial mono-leaflet repairs to the most recent cone repair and its modifications. The review also assesses the effects of pregnancy on the Ebstein\'s circulation, and vice versa, the effects of Ebstein\'s on pregnancy outcomes. Finally, two attached appendices are provided for a structured echocardiogram protocol and key information useful for comprehensive Multi-Disciplinary Team discussion.
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  • 文章类型: Journal Article
    Ebstein异常(EA)和左心室致密化不全(LVNC)的传统定义,两种罕见的先天性心脏病(CHD),将疾病限制在右心或左心,分别。大约15-29%的EA患者,患病率为2万活产中的1,通常用LVNC显示。虽然个别EA或LVNC文献很广泛,关于EA和LVNC(EA/LVNC)的联合外观的讨论相对较少,这带来了较高的不良临床结果的风险。我们询问PubMed,Medline,和WebofScience从成立到2022年2月的所有同行评审出版物,讨论EA/LVNC,并发现58篇用英语撰写的独特文章。这里,我们总结并推断迄今为止对EA/LVNC的临床和遗传理解的共性.我们还假设参与可能导致这种联合疾病的共同发育途径。EA/LVNC的解剖变异包括两种CHD的特征,包括三尖瓣移位,右心扩张,和左心室小梁,并指示年龄和严重程度的临床表现。疾病治疗是非特异性的,从对症管理到侵入性手术。除了一些变体协会,主要在肌节基因MYH7和TPM1中,EA/LVNC的遗传病因和发病机制仍然未知。
    Traditional definitions of Ebstein\'s anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15-29% of patients with EA, which has a prevalence of 1 in 20,000 live births, commonly manifest with LVNC. While individual EA or LVNC literature is extensive, relatively little discussion is devoted to the joint appearance of EA and LVNC (EA/LVNC), which poses a higher risk of poor clinical outcomes. We queried PubMed, Medline, and Web of Science for all peer-reviewed publications from inception to February 2022 that discuss EA/LVNC and found 58 unique articles written in English. Here, we summarize and extrapolate commonalities in clinical and genetic understanding of EA/LVNC to date. We additionally postulate involvement of shared developmental pathways that may lead to this combined disease. Anatomical variation in EA/LVNC encompasses characteristics of both CHDs, including tricuspid valve displacement, right heart dilatation, and left ventricular trabeculation, and dictates clinical presentation in both age and severity. Disease treatment is non-specific, ranging from symptomatic management to invasive surgery. Apart from a few variant associations, mainly in sarcomeric genes MYH7 and TPM1, the genetic etiology and pathogenesis of EA/LVNC remain largely unknown.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    在这篇综述中,我们简要介绍了最近发表的有关儿科心脏病专家主题的文章。我们希望提供最近在我们领域其他期刊上发表的最新文章的摘要。文章涉及(1)COVID-19对先天性心脏病患者一生的影响。患有遗传综合征的患者和处于晚期生理阶段的成年人发生中度/重度感染的风险最高。(2)儿童多系统炎症综合征的超声心动图发现,心肌损伤和收缩功能障碍的患病率很高,在亚急性期有所改善。(3)与Fontan失败风险相关的Fontan相关肝脏疾病的评分评估。(4)在1093例连续病例中进行的成人先天性心脏病手术表明,30天的死亡率可能低估了死亡率,而6个月的死亡率可能是该人群中更好的衡量标准。(5)圆锥手术后Ebstein异常的圆锥修复与常规修复显示出更好的中期效果,并且没有三尖瓣返流。(6)种族/民族之间的联系,疾病严重程度,以及接受心脏手术的儿童死亡率。研究表明,与高加索种族相比,非裔美国人种族与疾病严重程度增加有关,因此术后死亡率更高。
    In this review we provide a brief description of recently published articles addressing topics relevant to pediatric cardiologists. Our hope is to provide a summary of the latest articles published recently in other journals in our field. The articles address (1) The impact of COVID-19 in individuals with congenital heart disease through the life span. Patients with a genetic syndrome and adults at advanced physiological stage were at highest risk for moderate/severe infection. (2) Echocardiographic findings of the multisystem inflammatory syndrome in children showing a high prevalence of myocardial injury and systolic dysfunction that improves in the subacute phase. (3) A score assessment of the Fontan associated liver disease which correlated with the risk for Fontan failure. (4) Grown-up congenital heart surgery in 1093 consecutive cases showed that the 30 day mortality may underestimate the mortaility and that the 6 months mortality is likely a better measure in this population. (5) Cone versus conventional repair for Ebstein\'s anomaly showed better midterm results and freedom from tricuspid regurgitation after the cone operation. (6) Association between race/ethnicity, illness severity, and mortality in children undergoing cardiac surgery. The study showed that the African American race associated with increased disease severity and thus higher postoperative mortality compared to the caucausian race.
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