Salzillo Cecilia, Quaranta Andrea, Di Lizia Fabrizia, Lombardo Michela, Ciccone Marco Matteo, Santobuono Vincenzo Ezio, Macorano Enrica, Introna Francesco, Solarino Biagio, Marzullo Andrea
PhD Course in Public Health, Department of Experimental Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Pathology Unit, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari "Aldo Moro", 70124 Bari, Italy.
Life (Basel). 2025 May 28;15(6):868. doi: 10.3390/life15060868.
Bicuspid aortic valve (BAV) is the most common congenital heart anomaly, affecting an estimated 0.5% to 0.77% of the general population. This condition occurs when the aortic valve has only two cusps instead of the usual three, disrupting normal valve function and increasing the risk of various cardiovascular diseases. Often asymptomatic in its early stages, BAV can gradually progress, leading to stenosis, valve insufficiency, and abnormalities of the ascending aorta. One particularly concerning aspect is its potential association with sudden cardiac death (SCD). The aim of this literature review is to examine the relationship between BAV and the risk of SCD, highlighting the pathogenic variants and pathophysiological mechanisms involved while emphasizing the significance of valve classification and its clinical implications. Additionally, it explores current research gaps and future directions to enhance early identification of at-risk individuals and reduce the incidence of SCD.
二叶式主动脉瓣（BAV）是最常见的先天性心脏异常，估计影响普通人群的0.5%至0.77%。当主动脉瓣只有两个瓣叶而非通常的三个瓣叶时，就会出现这种情况，这会破坏瓣膜的正常功能，并增加患各种心血管疾病的风险。BAV在早期通常没有症状，但可能会逐渐发展，导致狭窄、瓣膜关闭不全以及升主动脉异常。一个特别令人担忧的方面是它与心源性猝死（SCD）的潜在关联。这篇文献综述的目的是研究BAV与SCD风险之间的关系，突出所涉及的致病变异和病理生理机制，同时强调瓣膜分类的重要性及其临床意义。此外，它还探讨了当前的研究空白和未来方向，以加强对高危个体的早期识别并降低SCD的发生率。
