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

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

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

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.

Original languageEnglish
JournalJournal of Investigative Medicine High Impact Case Reports
Volume8
DOIs
StatePublished - 2020
Externally publishedYes

Keywords

  • aortic aneurysm
  • aortic dissection
  • ARIH1

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