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

For more information visit: www.acta2alliance.org/