Université Aix-Marseille, INSERM UMR- 1251, Marseille , France ; Cardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec , Canada ; Université de Montréal, Montreal, Quebec , Canada ; and Laboratoire International Associé INSERM, Marseille France-CHU Ste Justine, Quebec, Canada.
Physiol Rev. 2018 Oct 1;98(4):2453-2475. doi: 10.1152/physrev.00048.2017.
The heart is the first organ to be functional in the fetus. Heart formation is a complex morphogenetic process regulated by both genetic and epigenetic mechanisms. Congenital heart diseases (CHD) are the most prominent congenital diseases. Genetics is not sufficient to explain these diseases or the impact of them on patients. Epigenetics is more and more emerging as a basis for cardiac malformations. This review brings the essential knowledge on cardiac biology of development. It further provides a broad background on epigenetics with a focus on three-dimensional conformation of chromatin. Then, we summarize the current knowledge of the impact of epigenetics on cardiac cell fate decision. We further provide an update on the epigenetic anomalies in the genesis of CHD.
心脏是胎儿中最早具有功能的器官。心脏形成是一个受遗传和表观遗传机制调节的复杂形态发生过程。先天性心脏病（CHD）是最突出的先天性疾病。遗传学不足以解释这些疾病或它们对患者的影响。表观遗传学越来越成为心脏畸形的基础。这篇综述带来了心脏发育生物学的必要知识。它进一步提供了一个关于表观遗传学的广泛背景，重点是染色质的三维构象。然后，我们总结了表观遗传学对心脏细胞命运决定的影响的现有知识。我们进一步介绍了 CHD 发生过程中表观遗传异常的最新进展。
