Pedersen Maria Weinkouff, Groth Kristian Ambjørn, Mortensen Kristian Havmand, Brodersen John, Gravholt Claus Højbjerg, Andersen Niels Holmark
1Department of Cardiology,Aalborg University Hospital,Aalborg,Denmark.
2Department of Cardiology,Aarhus University Hospital,Aarhus,Denmark.
Cardiol Young. 2019 Jan;29(1):1-10. doi: 10.1017/S1047951118001658. Epub 2018 Oct 30.
A bicuspid aortic valve is not only a common congenital heart defect but also an enigmatic condition that can cause a large spectrum of diseases, such as aortic valve stenosis and severe heart failure in newborns whereas aortic dissection in adults. On the contrary, a bicuspid aortic valve can also occur with normal function throughout life and never need treatment. Numerous genetic mechanisms are involved in the abnormal cellular functions that may cause abnormal development of the aortic valve during early foetal life. As several chromosomal disorders are also associated with a bicuspid valve, there does not appear to be an apparent common trigger to the abnormal development of the aortic valve. The clinical care of the bicuspid aortic valve patient has been changed by a significant body of evidence that has improved the understanding of the natural history of the disease, including when to best intervene with valve replacement and when to provide prophylactic aortic root surgery. Moreover, as bicuspid valve disease is also part of various syndromes, we can identify high-risk patients in whom a bicuspid valve is much more unfavourable than in the normal population. This review provides an overview of all aspects of the bicuspid aortic valve condition and gives an updated perspective on issues from pathophysiology to clinical care of bicuspid aortic valve disease and associated aortic disease in asymptomatic, symptomatic, and pregnant patients, as well as our viewpoint on population screening.
二叶式主动脉瓣不仅是一种常见的先天性心脏缺陷，也是一种神秘的病症，可引发多种疾病，如新生儿的主动脉瓣狭窄和严重心力衰竭，而在成年人中则可导致主动脉夹层。相反，二叶式主动脉瓣也可能在一生中功能正常，无需治疗。许多遗传机制参与了异常的细胞功能，这些功能可能在胎儿早期导致主动脉瓣发育异常。由于几种染色体疾病也与二叶式瓣膜有关，因此似乎没有明显的共同触发因素导致主动脉瓣异常发育。大量证据改变了二叶式主动脉瓣患者的临床护理，这些证据增进了对该疾病自然史的理解，包括何时进行最佳的瓣膜置换干预以及何时进行预防性主动脉根部手术。此外，由于二叶式瓣膜疾病也是各种综合征的一部分，我们可以识别出高危患者，在这些患者中，二叶式瓣膜比正常人群更不利。本综述概述了二叶式主动脉瓣病症的各个方面，并对无症状、有症状和怀孕患者的二叶式主动脉瓣疾病及相关主动脉疾病从病理生理学到临床护理的问题提供了最新观点，以及我们对人群筛查的看法。
