先天性二叶式主动脉瓣(bicuspid aortic valves，BAV)是最常见的先天性心血管畸形之一。早期症状不明显，大多通过心脏超声检查获得诊断。随着疾病发展，成年后可出现主动脉瓣狭窄或关闭不全、主动脉扩张、主动脉夹层和主动脉瘤等并发症，严重威胁患者生命健康。尽管其诊断及外科治疗方法已经明确，但是具体的发病机制尚未完全阐明。近年研究发现，基因突变和相关信号通路异常与BAV及其并发症的发生相关，同时表观遗传学和环境因素共同参与瓣膜发育和疾病发展过程。因此，明确BAV发生及发展的相关机制，对于疾病的早期诊断、合理干预以及改善预后具有重要意义。“,”Congenital bicuspid aortic valves(BAV)is one of the most common congenital heart diseases.It is generally diagnosed by echocardiography when deterioration of the abnormal leaflets becomes clinically evident.Patients with BAV are at increased risks of developing serious complications, including aortic stenosis, aortic regurgitation, aortic dilation, aortic dissection and/or aneurysm, which seriously threatens the health of patients.Although its diagnosis and surgical treatment have been clear, the specific pathogenesis has not been completely revealed.Recently, studies have found that gene mutations and related signaling pathway abnormalities are associated with BAV and its complications.And epigenetics and environmental factors are involved in the development and progress of BAV.Understanding the underlying cellular and molecular basis of normal and pathological aortic valve development may improve the preventative and therapeutic approaches to valve degeneration.