Genetics of congenital heart disease.
Genetics of congenital heart disease.
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DOI：
10.2174/157340310791162703
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发表时间：
2010-05
影响因子：
1.9
通讯作者：
Garg V
中科院分区：
文献类型：
--
作者：
Richards AA;Garg V
心血管畸形是最常见的出生缺陷类型，在世界范围内导致显著的死亡率。大多数这些异常的病因仍然未知，但遗传因素被认为发挥着越来越重要的作用。在我们的正常心脏发育的分子理解的进展，导致了许多基因的鉴定所需的心脏形态发生。这项工作有助于发现越来越多的人类心血管畸形的单基因原因。最近，研究发现单核苷酸多态性和亚显微拷贝数异常在先天性心脏病的发病机制中起作用。这篇综述讨论了这些发现，并总结了我们对先天性心脏病遗传基础的认识。
Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease.