ACTA2 179 — Genetic Aortic Disorders Association Canada

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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/