Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
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DOI：
10.1161/cir.0000000000000606
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发表时间：
2018-11-20
期刊：
影响因子：
37.8
通讯作者：
Russell, Mark W.
中科院分区：
文献类型：
--
作者：
Pierpont, Mary Ella;Brueckner, Martina;Russell, Mark W.
这篇综述提供了我们对先天性心脏病发病机制的遗传贡献的了解状况的最新总结。自 2007 年美国心脏协会首次发表关于先天性心脏病遗传基础的科学声明以来，新的基因组技术已得到广泛应用，极大地改变了我们对先天性心脏病病因的理解，并且在临床上使各年龄段甚至产前患者的先天性心脏病发病机制得以更准确地定义。介绍了新的分子检测技术及其在先天性心脏病（包括孤立的和与其他先天性异常或综合征相关的先天性心脏病）中的应用的信息。提供了对拷贝数变异、综合征、RASopathies 和异型/纤毛病的理解的最新进展。深入了解先天性心脏病模型的新研究，包括小鼠、小鸡和斑马鱼等基因操纵动物，以及基于人类诱导多能干细胞的方法，以帮助了解先天性心脏病的未来研究突破可能如何发生。预计本次综述将为广大医疗保健相关人员，包括儿科心脏病专家、儿科医生、成人心脏病专家、胸外科医生、产科医生、遗传学家、遗传咨询师和其他相关临床医生提供有关先天性心脏病遗传方面的及时信息。目的是为先天性心脏病患者的跨学科护理提供全面的基础。
This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of congenital heart disease was published, new genomic techniques have become widely available that have dramatically changed our understanding of the causes of congenital heart disease and, clinically, have allowed more accurate definition of the pathogeneses of congenital heart disease in patients of all ages and even prenatally. Information is presented on new molecular testing techniques and their application to congenital heart disease, both isolated and associated with other congenital anomalies or syndromes. Recent advances in the understanding of copy number variants, syndromes, RASopathies, and heterotaxy/ciliopathies are provided. Insights into new research with congenital heart disease models, including genetically manipulated animals such as mice, chicks, and zebrafish, as well as human induced pluripotent stem cell-based approaches are provided to allow an understanding of how future research breakthroughs for congenital heart disease are likely to happen. It is anticipated that this review will provide a large range of health care-related personnel, including pediatric cardiologists, pediatricians, adult cardiologists, thoracic surgeons, obstetricians, geneticists, genetic counselors, and other related clinicians, timely information on the genetic aspects of congenital heart disease. The objective is to provide a comprehensive basis for interdisciplinary care for those with congenital heart disease.