Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation. Pediatrics 2014 Oct;134(4):e1218-23
Date
09/17/2014Pubmed ID
25225139DOI
10.1542/peds.2013-2503Scopus ID
2-s2.0-84925547140 (requires institutional sign-in at Scopus site) 11 CitationsAbstract
Thoracic aortic aneurysm (TAA) is a genetically mediated disease with variable age of onset. In the pediatric age range, nonsyndromic TAA frequently has a milder course than syndromic forms of TAA, such as Marfan syndrome or Loeys-Dietz syndrome. Herein, we describe 17-year-old identical twin brothers with severe progressive TAA due to a novel de novo ACTA2 mutation. Interestingly, both boys were diagnosed at age 11 with congenital mydriasis, a recently recognized manifestation of some ACTA2 mutations due to smooth muscle dysfunction. One of the brothers presented with acute-onset lower back pain that was identified as dissection of an abdominal aortic aneurysm. Imaging of the chest at this time showed severe fusiform TAA. Cardiac imaging in his twin showed similar TAA, but no abdominal aortic aneurysm. Both brothers underwent valve-sparing aortic root replacement, but have had progressive aortic disease with recurrent dissection requiring multiple surgeries. This case emphasizes the importance of identifying physical stigmata of smooth muscle dysfunction, such as mydriasis, as potential markers for associated aortopathy and vascular diseases.
Author List
Ware SM, Shikany A, Landis BJ, James JF, Hinton RBMESH terms used to index this publication - Major topics in bold
ActinsAdolescent
Aortic Aneurysm, Thoracic
Disease Progression
Humans
Male
Mutation
Pedigree
Recurrence
Twins