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.