先天性心脏病的分子机制研究进展

Progress in research on molecular mechanisms of congenital heart disease

先天性心脏病是出生缺陷最常见的畸形,其病因仍不清楚。分子遗传学、发育生物学的进展,发现了许多和心脏发育有关的基因。先天性心脏病(CHD)是发育缺陷导致的畸形,其分子机制很复杂。文章综述总结正常的心脏发育过程和概括先天性心脏病相关基因通路,分析先天性心脏病的可能机制,并提出相应研究策略。

Congenital heart disease （CHD） is the most common type of birth defect. Despite the many advances in our understanding of cardiac development and many genes related to cardiac development identified, the fundamental etiology for the majority of cases of congenital heart disease remains unknown. This review summarizes normal cardiac development and outlines the recent discoveries of the genetic causes of congenital heart disease, and provides possible strategies for exploring it.