MUTATION: ACTA2 p.Lys238Asn

DISORDER NAME: ACTA2 Syndrome

CLASSIFICATION: Syndromic to Non-Syndromic

MOLECULAR PATHWAY: FTAAD Multisystem Smooth Muscle Dysfunction Syndrome

features

• Early onset of TAAD, large patent ductus arteriosus, aortic coarctation

- (Aortic size with risk of dissection: <5.0 cm)

• Early onset cerebrovascular disease (dilatation of the proximal internal carotid artery, carotid (Ware et al 2014)
   
• Congenital mydriasis (naturally dilated pupils)
   
• Prune belly sequence
   
• Acute limb ischemia and brachial artery occlusion