孤立性先天性心脏病的遗传学。
The genetics of isolated congenital heart disease.
机构信息
Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.
Department of Medicine, Columbia University Irving Medical Center, New York, New York.
出版信息
Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):97-106. doi: 10.1002/ajmg.c.31763. Epub 2019 Dec 26.
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.
先天性心脏病（CHD）的遗传机制复杂，目前仍不完全清楚。大多数 CHD 患者仅有孤立性心脏缺陷，无其他器官系统受累，但与综合征型 CHD 相比，孤立性 CHD 的遗传基础更难阐明。由于下一代测序技术的进步，我们对孤立性 CHD 遗传学的理解正在取得进展，与 CHD 相关的基因列表也在迅速扩大。已经发现数百个可能导致或促成 CHD 的基因变异，但仍只能在约 20-30%的患者中确定遗传原因。确定 CHD 的遗传原因可能会对临床结果和预后产生影响，因此临床医生了解何时以及对哪些孤立性 CHD 患者进行检测非常重要。本章回顾了一些已知的遗传机制，这些机制导致孤立性遗传性和散发性 CHD，并为孤立性 CHD 患者的评估和基因检测提供了建议。
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