The Heterogeneous Phenotype of Bicuspid Aortopathy Attribute to Different Dominant Pathogenesis

Our study aimed to investigate the potential pathogenetic theories of different phenotype prevalence in bicuspid aortopathy.

A total of 407 bicuspid aortic valve (BAV) patients with aortic dilation were retrospectively reviewed. Association was determined between aortic valve lesion types and aortic configurations to confirm the homogeneous BAV subsets, and then, dominance analysis was used to evaluate the relative importance of two components of aortic valve lesion (BAV phenotype and valvular dysfunction) that associated with aortic configurations in each subgroup.

Dominance analysis showed that Type-1 LR was the dominant contributor (79.0% and 79.6%) associated with the higher prevalence of the dilation of aortic root (AoR) and ascending aorta (AAo) in BAV patients with Type-1 LR and aortic regurgitation (AR) or aortic stenosis (AS) + AR. However, AS was the main contributor (60.0%) associated with the raised incidence of the dilation of AAo and proximal aortic arch (PArc) in Type-0 LAT and AS.

Different dominant pathogenetic theory determined the phenotype of BAV aortopathy. In patients of Type-1 LR with AR, inherent disposition is mainly responsible for the higher frequency of AoR dilation. Valve-related hemodynamics determined greater prevalence of the dilation of AAo and PArc in patients of Type-0 LAT with AS.