Progressive aortic dilation associated with ACTA2 mutations presenting in infancy

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 is provided. Death or need for ascending aortic replacement occurred in all patients. Genetic testing for ACTA2 mutations should be considered in all infants presenting with ductal aneurysms.