Conclusions
Based on this retrospective descriptive analysis, we observed that patients with a genetic diagnosis (including MFS, LDS, TS) were started on medications at lower severity of AoD at the SoV compared to patients without a genetic diagnosis or isolated AoD. Patients with BAV were started on medication at a larger AAo diameter compared to patients with genetic diagnoses and isolated AoD. Although echocardiographic aortic dimensions were relatively comparable to advanced imaging measurements in our study, multimodality imaging should be utilized especially when guiding decisions for AoD intervention. Genetic evaluation should be considered in patients with isolated AoD, family history of AoD, or clinical suspicion of CTD despite absence of clinical or phenotypic findings. Additional prospective studies may aid in further understanding progression of AoD in patients with and without genetic abnormalities and significant family history.