Cardiovascular Outcomes in Aortopathy

Background: GenTAC Registry enrolled patients with genetic aortopathies between 2007–2016. Objective: To compare age distribution and probability of elective surgery for proximal aortic aneurysm, any dissection surgery and cardiovascular mortality (CVM) among aortopathy etiologies. Methods: Retrospective/Prospective design. Participants with bicuspid aortic valve with aneurysm (BAV, n=879), Marfan syndrome (MFS, n=861), non-syndromic 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. Results: The 25% probability of elective proximal aortic aneurysm surgery was 30 years for LDS (95% CI: 18–37), followed by MFS (34 years, 95% CI: 32–36), nsHTAD (52 years, 95% CI: 48–56), and BAV (55 years, 95% CI: 53–58). Any dissection surgery 25% probability was highest in LDS (38 years, 95% CI: 33–53) followed by MFS (51 years, 95% CI: 46–57) and nsHTAD (54 years, 95% CI: 51–61). BAV experienced the largest relative frequency of elective surgery to any dissection surgery (254/33=7.7), compared to MFS (273/112=2.4), LDS (35/16=2.2), or nsHTAD (82/76=1.1). With MFS as the reference population, risk of any dissection surgery or CVM, was lowest in BAV patients (HR 0.13, 95% CI: 0.08–0.18; HR 0.13, 95%: CI 0.06–0.27). The greatest risk of mortality was seen in patients with vEDS. Conclusions: Marfan and LDS cohorts demonstrate age and event profiles congruent with current understanding of syndromic aortopathies. BAV events weigh towards elective replacement with relatively few dissection surgeries. Non-syndromic HTAD patients experience near equal probability of dissection versus prophylactic surgery, possibly due to failure of early diagnosis.