Table 1.

ACTA2 clinical features

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

– 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