The genetic mechanisms underlying congenital heart disease (CHD) are complex and remain incompletely understood. The majority of patients with CHD have an isolated heart defect without other organ system involvement, but the genetic basis of isolated CHD has been even more difficult to elucidate compared to syndromic CHD. Our understanding of the genetics of isolated CHD is advancing in large part due to advances in next generation sequencing, and the list of genes associated with CHD is rapidly expanding. Variants in hundreds of genes have been identified that may cause or contribute to CHD, but a genetic cause can still only be identified in about 20-30% of patients. Identifying a genetic cause for CHD can have an impact on clinical outcomes and prognosis and thus it is important for clinicians to understand when and what to test in patients with isolated CHD. This chapter reviews some of the known genetic mechanisms that contribute to isolated inherited and sporadic CHD as well as recommendations for evaluation and genetic testing in patients with isolated CHD.

中文翻译：

---

孤立性先天性心脏病的遗传学。

先天性心脏病 (CHD) 的遗传机制很复杂，并且仍未完全了解。大多数 CHD 患者患有孤立性心脏缺陷，没有其他器官系统受累，但与综合征性 CHD 相比，孤立性 CHD 的遗传基础更加难以阐明。我们对孤立性 CHD 遗传学的理解在很大程度上是由于下一代测序的进步，并且与 CHD 相关的基因列表正在迅速扩大。已经确定了可能导致或促成 CHD 的数百个基因的变异，但仍然只能在大约 20-30% 的患者中确定遗传原因。确定 CHD 的遗传原因会对临床结果和预后产生影响，因此临床医生了解孤立性 CHD 患者的检测时间和检测内容非常重要。本章回顾了一些已知的导致孤立性遗传性和散发性 CHD 的遗传机制，以及对孤立性 CHD 患者进行评估和基因检测的建议。