Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy.

Abstract excerpt

Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood. Recently, a specific mutation (Arg179His) in this gene has been associated with multisystem smooth muscle dysfunction presenting in childhood. We describe 3 patients with an R179H mutation, all of whom presented with an aneurysmal patent ductus arteriosus. Detailed information on the rate of aortic disease...

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