AI Article Synopsis
- Mutations in the ACTA2 gene are linked to aortic aneurysms and dissections in adults, with a specific mutation (Arg179His) causing smooth muscle dysfunction in children.
- Three patients with the R179H mutation showed serious vascular issues, including an aneurysmal patent ductus arteriosus, leading to severe health problems.
- All affected infants experienced significant disease progression, resulting in death or the need for aortic surgery, highlighting the importance of genetic testing for ACTA2 mutations in similar cases.
Article 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 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.
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| http://dx.doi.org/10.1542/peds.2014-3032 | DOI Listing |
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