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Table 1 ACTA2 clinical features

From: European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

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