Longobardo Luca, Jain Renuka, Carerj Scipione, Zito Concetta, Khandheria Bijoy K
Department of Clinical and Experimental Medicine - Clinical and Experimental Department of Medicine and Pharmacology, University of Messina, Italy.
Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke's Medical Centers, University of Wisconsin School of Medicine and Public Health, Milwaukee.
Am J Med. 2016 Aug;129(8):796-805. doi: 10.1016/j.amjmed.2016.03.009. Epub 2016 Apr 6.
Although bicuspid aortic valve is the most common congenital abnormality, it is perhaps erroneous to consider this disease one clinical entity. Rather, it may be useful to consider it a cluster of diseases incorporating different phenotypes, etiologies, and pathogenesis. Discussion of bicuspid aortic valve can be difficult because there is no clear consensus on a phenotypic description among authors, and many classification schemes have been proposed. The literature suggests that different phenotypes have different associations and clinical manifestations. In addition, recent studies suggest a genetic basis for the disease, yet few genes have so far been described. Furthermore, recent scientific literature has been focusing on the increased risk of aortic aneurysms, but the pathogenesis of bicuspid aortic valve aortopathy is still unclear. The aim of this paper is to review the current evidence about the unsolved issues around bicuspid aortic valve.
尽管二叶式主动脉瓣是最常见的先天性异常，但将这种疾病视为单一临床实体可能是错误的。相反，将其视为包含不同表型、病因和发病机制的一组疾病可能会有所帮助。关于二叶式主动脉瓣的讨论可能很困难，因为作者之间对表型描述没有明确的共识，并且已经提出了许多分类方案。文献表明，不同的表型有不同的关联和临床表现。此外，最近的研究表明该疾病有遗传基础，但迄今为止描述的基因很少。此外，最近的科学文献一直关注主动脉瘤风险的增加，但二叶式主动脉瓣主动脉病变的发病机制仍不清楚。本文的目的是回顾关于二叶式主动脉瓣尚未解决问题的当前证据。
