Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry

J Am Coll Cardiol. 2016 Jun 14;67(23):2744-2754. doi: 10.1016/j.jacc.2016.03.570.


Background: Aortic dissection (AoD) is a serious complication of thoracic aortic aneurysm (TAA). Relative risk for AoD in relation to TAA etiology, incidence, and pattern after prophylactic TAA surgery are poorly understood.

Objectives: This study sought to determine the incidence, pattern, and relative risk for AoD among patients with genetically associated TAA.

Methods: The population included adult GenTAC participants without AoD at baseline. Standardized core laboratory tests classified TAA etiology and measured aortic size. Follow-up was performed for AoD.

Results: Bicuspid aortic valve (BAV) (39%) and Marfan syndrome (MFS) (22%) were the leading diagnoses in the studied GenTAC participants (n = 1,991). AoD occurred in 1.6% over 3.6 ± 2.0 years; 61% of AoD occurred in patients with MFS. Cumulative AoD incidence was 6-fold higher among patients with MFS (4.5%) versus others (0.7%; p < 0.001). MFS event rates were similarly elevated versus those in patients with BAV (0.3%; p < 0.001). AoD originated in the distal arch or descending aorta in 71%; 52% of affected patients, including 68% with MFS, had previously undergone aortic grafting. In patients with proximal aortic surgery, distal aortic size (descending thoracic, abdominal aorta) was larger among patients with AoD versus those without AoD (both p < 0.05), whereas the ascending aorta size was similar. Conversely, in patients without previous surgery, aortic root size was greater in patients with subsequent AoD (p < 0.05), whereas distal aortic segments were of similar size. MFS (odds ratio: 7.42; 95% confidence interval: 3.43 to 16.82; p < 0.001) and maximal aortic size (1.86 per cm; 95% confidence interval: 1.26 to 2.67; p = 0.001) were independently associated with AoD. Only 4 of 31 (13%) patients with AoD had pre-dissection images that fulfilled size criteria for prophylactic TAA surgery at a subsequent AoD site.

Conclusions: Among patients with genetically associated TAA, MFS augments risk for AoD even after TAA grafting. Although increased aortic size is a risk factor for subsequent AoD, events typically occur below established thresholds for prophylactic TAA repair.

Keywords: Marfan syndrome; aortic aneurysm; aortic dissection; bicuspid aortic valve.

MeSH terms

  • Adult
  • Aorta, Abdominal / diagnostic imaging
  • Aorta, Thoracic / diagnostic imaging
  • Aortic Aneurysm, Thoracic / epidemiology
  • Aortic Aneurysm, Thoracic / etiology*
  • Aortic Aneurysm, Thoracic / surgery
  • Aortic Dissection / epidemiology
  • Aortic Dissection / etiology*
  • Aortic Valve / abnormalities
  • Bicuspid Aortic Valve Disease
  • Blood Vessel Prosthesis Implantation
  • Ehlers-Danlos Syndrome / complications
  • Female
  • Heart Valve Diseases / complications
  • Humans
  • Incidence
  • Loeys-Dietz Syndrome / complications
  • Male
  • Marfan Syndrome / complications
  • Middle Aged
  • Organ Size
  • Registries
  • Turner Syndrome / complications
  • United States / epidemiology