Congenital heart disease (CHD) is the most common of congenital cardiovascular malformations associated with birth defects, and it results in significant morbidity and mortality worldwide. The classification of CHD is still elusive owing to the complex pathogenesis of CHD. Advances in molecular medicine have revealed the genetic basis of some heart anomalies. Genes associated with CHD might be modulated by various epigenetic factors. Thus, the genetic and epigenetic factors are gradually accepted as important triggers in the pathogenesis of CHD. However, few literatures have comprehensively elaborated the genetic and epigenetic mechanisms of CHD. This review focuses on the etiology of CHD from genetics and epigenetics to discuss the role of these factors in the development of CHD. The interactions between genetic and epigenetic in the pathogenesis of CHD are also elaborated. Chromosome abnormalities and gene mutations in genetics, and DNA methylations, histone modifications and on-coding RNAs in epigenetics are summarized in detail. We hope the summative knowledge of these etiologies may be useful for improved diagnosis and further elucidation of CHD so that morbidity and mortality of children with CHD can be reduced in the near future. Data are available in a public, open access repository.

中文翻译：

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先天性心脏病发生的遗传和表观遗传机制

先天性心脏病 (CHD) 是与出生缺陷相关的最常见的先天性心血管畸形，它在世界范围内导致显着的发病率和死亡率。由于 CHD 的复杂发病机制，CHD 的分类仍然难以捉摸。分子医学的进步揭示了一些心脏异常的遗传基础。与冠心病相关的基因可能受到各种表观遗传因素的调节。因此，遗传和表观遗传因素逐渐被认为是CHD发病机制的重要诱因。然而，很少有文献全面阐述CHD的遗传和表观遗传机制。本综述着重从遗传学和表观遗传学对冠心病的病因学进行探讨，探讨这些因素在冠心病发生发展中的作用。还阐述了 CHD 发病机制中遗传和表观遗传之间的相互作用。详细总结了遗传学中的染色体异常和基因突变，以及表观遗传学中的DNA甲基化、组蛋白修饰和编码RNA。我们希望对这些病因学的总结性了解可能有助于改进 CHD 的诊断和进一步阐明，以便在不久的将来降低 CHD 儿童的发病率和死亡率。数据可在公共、开放访问的存储库中获得。我们希望对这些病因学的总结性了解可能有助于改进 CHD 的诊断和进一步阐明，以便在不久的将来降低 CHD 儿童的发病率和死亡率。数据可在公共、开放访问的存储库中获得。我们希望对这些病因学的总结性了解可能有助于改进 CHD 的诊断和进一步阐明，以便在不久的将来降低 CHD 儿童的发病率和死亡率。数据可在公共、开放访问的存储库中获得。