Bicuspid Aortic Valve

Bicuspid aortic valve (BAV) is the most common congenital pathology of the aortic valve occurring in 0.5-2% of the general population and frequently requiring surgical management after the fourth decade of life. From the etiology to the surgical management of BAV is analyzed. Other chapters review genome-wide association studies, linkage analyses and next-generation sequencing studies, which are beginning to build a more comprehensive picture of the genetic bases of BAV. The prospects for developing tools for genetic screening of families and for risk stratification are explored as well, including the future steps which are necessary for the creation of an individualized approach to managing BAV. The last chapter is a review of the present understanding of ascending thoracic aortic aneurysm pathogenesis. The genetic basis and basic pathology underlying BAV and ascending thoracic aortic aneurysms are discussed as well, and are compared to known mechanisms underlying other aortopathologies.