Table 1 ACTA2 clinical features

Main clinical manifestation based on refs [1, 3, 6, 12,13,14,15]

 – most frequent presenting feature: acute aortic dissection

 – Stanford type A dissection more common (54% @ median age 36 yrs) than type B (21% @ median age 27 yrs)

 – 15–57% @ aortic diameter < 5 cm (often in peri-partum period)

 – Age dependent occurrence of aortic dissection

  ○ Rare/absent in children

  ○ Cumulative risk for aortic event (aortic dissection or surgical aneurysm repair) @85y: 76%

 – aortic events more prevalent in males (62%) than in females (38%); p = 0.003

 – Risk aortic event higher with pathogenic variants affecting the Arg179 and Arg258 residue, lower with p.(Arg185Gln) and p.(Arg118Gln) pathogenic variants

 – 6% of pregnancies complicated by aortic dissection (third trimester of shortly after delivery)

Other clinical features

 – Occlusive vascular disease

  ○ Premature coronary artery disease (youngest @28 yrs)

  ○ Moya-Moya like cerebrovascular disease – more common with pathogenic variant affecting the Arg258 residue

 – Congenital Heart Disease

  ○ Persistent ductus arteriosus (10%)

  ○ Bicuspid aortic valve (4%)

  ○ Atrial septal defect

 – Iris Flocculi (iris cysts at the pupillary border) – more common with p.(Arg149Cys) variant

 – Livedo reticularis