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

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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
JournalPediatrics
Volume134
Issue number4
DOIs
StatePublished - Oct 1 2014
Externally publishedYes

Fingerprint

Thoracic Aortic Aneurysm
Dissection
Mutation
Siblings
Abdominal Aortic Aneurysm
Smooth Muscle
Loeys-Dietz Syndrome
Mydriasis
Christianity
Aortic Diseases
Marfan Syndrome
Monozygotic Twins
Low Back Pain
Aortic Valve
Vascular Diseases
Age of Onset
Thorax
Pediatrics

Keywords

  • ACTA2
  • aortic aneurysm
  • aortopathy
  • genetics
  • mydriasis
  • natural history

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation. / Ware, Stephanie; Shikany, Amy; Landis, Benjamin; James, Jeanne F.; Hinton, Robert B.

In: Pediatrics, Vol. 134, No. 4, 01.10.2014, p. e1218-e1223.

Research output: Contribution to journalArticle

Ware, Stephanie ; Shikany, Amy ; Landis, Benjamin ; James, Jeanne F. ; Hinton, Robert B. / Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation. In: Pediatrics. 2014 ; Vol. 134, No. 4. pp. e1218-e1223.
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