De Backer Julie, Callewaert Bert, Muiño Mosquera Laura
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Cardiology, Ghent University Hospital, Ghent, Belgium.
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Rev Esp Cardiol (Engl Ed). 2020 Nov;73(11):937-947. doi: 10.1016/j.rec.2020.05.019. Epub 2020 Jul 6.
Genetics has rightly acquired an important place in almost all medical disciplines in recent years and this is certainly the case in the field of congenital cardiology. Not only has this led to greater insight into the pathophysiology of congenital heart defects but it also has a beneficial impact on patient management. Integration of clinical genetics in multidisciplinary centers of expertise for CHD is therefore a clear recommendation. Adult and pediatric cardiologists play a crucial role in the process of genetic evaluation of patients and families and should have be familiar with red flags for referral for further clinical genetic elaboration, counseling, and eventual testing. Some basic knowledge is also important for the correct interpretation of genetic testing results. In this review article, we provide a practical overview of what genetic evaluation entails, which type of genetic tests are possible today, and how this can be used in practice for the individual patient.
近年来，遗传学在几乎所有医学学科中都理所当然地占据了重要地位，先天性心脏病领域无疑也是如此。这不仅使人们对先天性心脏缺陷的病理生理学有了更深入的了解，而且对患者管理也产生了有益的影响。因此，在先天性心脏病多学科专业中心整合临床遗传学是一个明确的建议。成人和儿科心脏病专家在患者及其家庭的基因评估过程中起着关键作用，并且应该熟悉转诊的警示信号，以便进行进一步的临床基因分析、咨询和最终检测。一些基础知识对于正确解读基因检测结果也很重要。在这篇综述文章中，我们提供了一个实用的概述，内容包括基因评估需要什么、如今有哪些类型的基因检测以及如何在实践中应用于个体患者。
