Bicuspid Aortic Valve and Thoracic Aortic Aneurysm: Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype
Figure 3
Potential relationships between BAV and TAA. From a disease standpoint, AVD and thoracic dissection (TAAD) represent distinct entities that affect different tissue types (a). However, in light of the clinical association between the respective endophenotypes BAV and TAA, there are 3 patient populations, namely, those with BAV (with or without AVD), those with TAA, and those with BAV and TAA (b). From a genetic and developmental perspective, there is increasing evidence of etiologic overlap, suggesting a shared complex genotype (c).
