Journal of Investigative Medicine High Impact Case Reports (Feb 2020)

A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

  • Mohanad Hamandi MD,
  • Madison L. Bolin,
  • Joy Fan,
  • Allison T. Lanfear,
  • Seth K. Woolbert,
  • Ronald D. Baxter MD,
  • J. Michael DiMaio MD,
  • William T. Brinkman MD

DOI
https://doi.org/10.1177/2324709620909234
Journal volume & issue
Vol. 8

Abstract

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Aortic aneurysms in children are rare and when present are usually caused by a connective tissue disorder. In this article, we present a case of multiple aortic aneurysms in an adolescent with a novel finding of a gene variation that is associated with aortic disease.