Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation

Stephanie M. Ware, Amy Shikany, Benjamin J. Landis, Jeanne F. James, Robert B. Hinton

Research output: Contribution to journalArticle

6 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)e1218-e1223
Issue number4
StatePublished - Jan 1 2014
Externally publishedYes


  • ACTA2
  • Aortic aneurysm
  • Aortopathy
  • Genetics
  • Mydriasis
  • Natural history

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation'. Together they form a unique fingerprint.

  • Cite this