CAJ | 학술논문

先天性心脏病是一种常见的新生儿出生缺陷疾病，我国每年有12万～20万先心病患儿出生，其中多数为复杂型先天性心脏病，严重危害新生儿的健康，给社会和患者家庭带来沉重的负担。先天性心脏病的发病机制非常复杂，多数是由于环境因素和遗传因素共同作用的结果，其中许多患者是由于多种基因和信号通路共同作用的结果，例如， TGF-β、Nodal、MAPK、Wnt、Notch 等信号通路以及同型半胱氨酸甲硫氨酸循环途径与心脏发育密切相关，其中任何一个基因或信号通路异常都有可能导致先天性心脏病。该文以各种信号通路为主线，总结各信号通路及相关基因在心脏发育中的作用，以及这些信号通路和基因改变或异常表达引发先天性心脏病的致病机制。
선천성심장병시일충상견적신생인출생결함질병，아국매년유12만～20만선심병환인출생，기중다수위복잡형선천성심장병，엄중위해신생인적건강，급사회화환자가정대래침중적부담。선천성심장병적발병궤제비상복잡，다수시유우배경인소화유전인소공동작용적결과，기중허다환자시유우다충기인화신호통로공동작용적결과，례여， TGF-β、Nodal、MAPK、Wnt、Notch 등신호통로이급동형반광안산갑류안산순배도경여심장발육밀절상관，기중임하일개기인혹신호통로이상도유가능도치선천성심장병。해문이각충신호통로위주선，총결각신호통로급상관기인재심장발육중적작용，이급저사신호통로화기인개변혹이상표체인발선천성심장병적치병궤제。
Congenital heart diseases are the common disease in birth defects .There are 1 2 0 0 0 0 to 2 0 0 0 0 0 children born with congenital heart disease in China each year , most of which are complex congenital heart diseases , seriously harming the health of the newborn , and bring heavy burden to commu-nity and the patient's family .The pathogenesis of congenital heart disease is complex , mostly of which due to the co-effects of environmental and genetic factors .Many patients get congenital heart diseases due to the combined action of multiple genes and signaling pathways , such as TGF-β, Nodal , MAPK , Wnt , Notch and homocysteine methionine signaling pathways which are closely associated with the cardiac devel -opment , and any abnormality in these genes or signal path ways may lead to congenital heart disease .In this paper , we summarizd the roles of various signaling pathways and their related genes in heart development , and how changes or abnormalities in these signaling pathways and genes caused congenital heart disease .