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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Actins
• Share to Adolescent
• Share to Aortic Aneurysm, Thoracic