Nattel Sarah N, Adrianzen Laura, Kessler Erica C, Andelfinger Gregor, Dehaes Mathieu, Côté-Corriveau Gabriel, Trelles M Pilar
Department of Psychiatry, Albert Einstein College of Medicine and Seaver Autism Center at Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Department of Psychiatry, Seaver Autism Center at Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Can J Cardiol. 2017 Dec;33(12):1543-1555. doi: 10.1016/j.cjca.2017.09.020. Epub 2017 Oct 6.
Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental disorders (NDDs) and psychiatric conditions. These include cognitive, adaptive, motor, speech, behavioural, and executive functioning deficits, as well as autism spectrum disorder and psychiatric conditions. Structural and functional neuroimaging have demonstrated brain abnormalities in young children with CHD before undergoing surgical repair, likely as a result of an in utero developmental insult. Surgical factors do not seem to play a significant role in neurodevelopmental outcomes. Specific genetic abnormalities, particularly copy number variants, have been increasingly implicated in both CHD and NDDs. Variations in genes involved in apolipoprotein E (APOE) production, the Wnt signalling pathway, and histone modification, as well as in the 1q21.1, 16p13.1-11, and 8p23.1 genetic loci, have been associated with CHD and NDDs and are important targets for future research. Understanding these associations is important for risk stratification, disease classification, improved screening, and pharmacologic management of individuals with CHD.
患有先天性心脏病（CHD）的儿童患神经发育障碍（NDDs）和精神疾病的风险增加。这些疾病包括认知、适应、运动、言语、行为和执行功能缺陷，以及自闭症谱系障碍和精神疾病。结构和功能神经影像学研究表明，患有先天性心脏病的幼儿在接受手术修复之前就存在大脑异常，这可能是由于子宫内发育受到损伤所致。手术因素似乎在神经发育结局中不起重要作用。特定的基因异常，尤其是拷贝数变异，越来越多地被认为与先天性心脏病和神经发育障碍都有关。参与载脂蛋白E（APOE）产生、Wnt信号通路和组蛋白修饰的基因变异，以及1q21.1、16p13.1-11和8p23.1基因位点的变异，都与先天性心脏病和神经发育障碍有关，是未来研究的重要靶点。了解这些关联对于先天性心脏病患者的风险分层、疾病分类、改进筛查和药物管理非常重要。
