MUTATION: ACTA2 Arg.179

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

- Dissection observed at early age, aortic size with risk of dissection: <5.0 cm

  • Early onset cerebrovascular disease (dilatation of the proximal internal carotid artery, occlusion of the cerebral arteries and abnormally straight course of the intracranial arteries, small vessels occlusion (Munot et al.2012)
     
  • Pulmonary hypertension
     
  • Congenital mydriasis (naturally dilated pupils)
     
  • Hypoperistalsis of the gut and malrotation
     
  • Hypotonic bladder associated with dilated ureters, calyses and or renal pelves, hydronephrosis, vesicoureteral reflux and recurrent urinary tract infections
     
  • Prune belly sequence
     
  • Acute limb ischemia and brachial artery occlusion