MUTATION: ACTA2

DISORDER NAME: ACTA2 Non-Syndromic

CLASSIFICATION:  Syndromic to Non-Syndromic

MOLECULAR PATHWAY: FTAAD Smooth Muscle Cell (SMC) Contractility


features

  • Thoracic aortic aneurysm and dissection (TAAD)

- Type A dissection more common (54% at median age 27) than Type B (21% at median age 36)

- Early dissection at aortic diameter <5.0 cm (women with peripartum dissection

Other features may occur:

  • Occlusive vascular disease include strokes, coronary artery disease and Moyamoya disease (arteries in brain are constricted, building a web of thin and weak collateral prone to aneurysm, thrombosis and hemorrhaging)
     
  • PDA
     
  • Iris flocculi
     
  • Livedo reticularis (mottled reticulated vascular skin pattern, lace-like purplish discoloration)

No facial dimorphism and skeletal abnormalities

Proportion of non-syndromic FTAAD attributed to mutation of ACTA2 is 12-21%