For a study, researchers examined the age distribution and probability of proximal aortic aneurysm surgery, dissection operation, and cardiovascular mortality across aortopathy etiologies. A retrospective/prospective design was used in the GenTAC research. Investigators looked at those who had a bicuspid aortic valve (BAV) with aneurysm (n=879), Marfan syndrome (MFS) (n=861), nonsyndromic heritable thoracic aortic disease (nsHTAD) (n=378), Turner syndrome (TS) (n=298), vascular Ehlers-Danlos syndrome (vEDS) (n=149), and Loeys-Dietz syndrome (LDS) (n=121) were analyzed. 

LDS (95% CI: 18-37 years) had the highest 25% likelihood of elective proximal aortic aneurysm surgery at 30 years, followed by MFS (34 years; 95% CI: 32-36 years), nsHTAD (52 years; 95% CI: 48-56 years), and BAV (52 years; 95% CI: 48-56 years) (55 years; 95% CI: 53-58 years). LDS (38 years; 95% CI: 33-53 years) had the highest chance of any dissection operation at 25%, followed by MFS (51 years; 955 CI: 46-57 years) and nsHTAD (54 years; 95% CI: 51-61 years). Compared to MFS (273/112=2.4), LDS (35/16=2.2), and nsHTAD (82/76=1.1), BAV had the highest relative frequency of elective surgery to any dissection operation (254/33=7.7). With MFS as the reference population, BAV patients had the lowest risk of any dissection operation or cardiovascular death (HR: 0.13; 95% CI: 0.08-0.18; HR: 0.13; 95%: CI: 0.06-0.27, respectively). Patients with vEDS had the highest risk of death.

The age and event characteristics in the Marfan and LDS cohorts were consistent with current knowledge of syndromic arthropathies. With minimal dissection procedures, BAV occurrences favor elective replacement. Nonsyndromic HTAD patients had a nearly identical chance of dissection versus preventive surgery, probably due to a failure of early detection.

Reference:www.jacc.org/doi/10.1016/j.jacc.2022.03.367