Cardiovascular Outcomes in Aortopathy
The GenTAC (Genetically Triggered Thoracic Aortic Aneurysm and Cardiovascular Conditions) Registry is a longitudinal observational cohort study of individuals with heritable thoracic aortic aneurysm at a total of eight centers; enrollment began in 2007, and follow-up was closed in 2016. Clinical endpoints included proximal aortic aneurysm surgeries including valve-sparing and valve replacement procedures; and categorized as elective aneurysm surgery, emergent proximal dissection surgery, or any aortic dissection surgery.

Analysis included participants with 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). The age at which there was a 25% probability of elective proximal aortic aneurysm surgery was lowest for LDS at 30 years (95% confidence interval [CI], 18-37 years), followed by MFS (34 years; 95% CI, 32-36 years), nsHTAD (52 years; 95% CI, 48-56 years), and BAV (55 years; 95% CI, 53-58 years). The age at which there was a 25% probability for any dissection surgery was lowest in LDS (38 years; 95% CI, 33-53 years), followed by MFS (51 years; 95% CI, 46-57 years) and nsHTAD (54 years; 95% CI, 51-61 years). Participants with BAV experienced the largest relative frequency of elective surgery to any dissection surgery (254/33 = 7.7), compared with MFS (273/112 = 2.4), LDS (35/16 = 2.2), or nsHTAD (82/76 = 1.1). With MFS as the reference population, the risk of any dissection surgery or cardiovascular mortality was lowest in BAV patients (hazard ratio [HR], 0.13; 95% CI, 0.08-0.18; and HR, 0.13; 95% CI, 0.06-0.27, respectively). The greatest risk of mortality was seen in patients with vEDS.

In a large, multicenter registry of patients with a heritable aortic aneurysm, the age associated with risk of elective proximal aortic aneurysm surgery or any dissection surgery was lowest (and therefore the relative risk was highest) for Loeys-Dietz syndrome and Marfan syndrome. Compared to patients with other types of heritable aortic aneurysm, patients with BAV had a greater frequency of elective aortic surgery rather than surgery in the setting of dissection, and the lowest relative risk of dissection surgery or cardiovascular mortality.