Genetics and Genomics of Congenital Heart Disease.
Genetics and Genomics of Congenital Heart Disease.
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先天性心脏病的遗传学和基因组学。
DOI：
10.1161/circresaha.116.309140
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发表时间：
2017-03-17
影响因子：
20.1
通讯作者：
Brueckner M
中科院分区：
文献类型：
--
作者：
Zaidi S;Brueckner M
先天性心脏病是最常见的出生缺陷，由于医疗和外科治疗的重大进步，现在患有CHD的成年人比儿童多。直到最近，大多数CHD的原因尚不清楚。基因组技术的进步已经发现了相当一部分CHD的遗传病因，同时指出CHD遗传学的显着复杂性。这篇综述将集中于冠心病遗传病因的证据，并讨论支持冠心病单基因和复杂遗传机制的数据。CHD遗传学研究的发现引起了人们对生物学途径的关注，同时为更好地了解心脏发育打开了大门，并影响了CHD患者的临床护理。最后，我们解决临床遗传评估的患者和家庭受冠心病。
Congenital heart disease is the most common birth defect, and due to major advances in medical and surgical management, there are now more adults living with CHD than children. Until recently, the cause of the majority of CHD was unknown. Advances in genomic technologies have discovered the genetic etiology of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. This review will focus on the evidence for genetic causes underlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD. The discoveries from CHD genetic studies draw attention to biological pathways that simultaneously open the door to a better understanding of cardiac development, and impact clinical care of CHD patients. Finally, we address clinical genetic evaluation of patients and families affected by CHD.