Original paper
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy
Abstract
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 progression throughout childhood...
Paper Details
Title
Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy
Published Date
Jul 1, 2015
Journal
Volume
136
Issue
1
Pages
e262 - e266
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Notes
History