Diz Olga María, Toro Rocio, Cesar Sergi, Gomez Olga, Sarquella-Brugada Georgia, Campuzano Oscar
UGC Laboratorios, Hospital Universitario Puerta del Mar, 11009 Cadiz, Spain.
Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, 08950 Barcelona, Spain.
J Pers Med. 2021 Jun 16;11(6):562. doi: 10.3390/jpm11060562.
Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.
先天性心脏病是一组以心脏或大血管结构畸形为特征的病症。这些改变发生在胚胎期，是最常观察到的严重先天性畸形，是因畸形导致新生儿死亡的主要原因，也是仅次于中枢神经系统畸形的第二常见先天性畸形。不同类型先天性心脏病的严重程度因相关解剖缺陷的组合而异。这些畸形的病因通常被认为是多因素的，但基因变异起着关键作用。目前，高通量基因技术的应用能够识别致病性非整倍体、大片段的缺失/重复以及罕见的单核苷酸变异。先天性心脏病的高发病率及其相关并发症使得有必要尽早做出诊断，以便采取个性化的最适当措施。在本综述中，我们全面更新了最常见先天性心脏病以及与先天性心脏缺陷相关的其他综合征的遗传基础，以及如何以个性化方法将遗传数据转化为临床实践。
