A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy. (February 2020)

• Record Type: Journal Article
• Authors: Hamandi, Mohanad; Bolin, Madison L.; Fan, Joy; Lanfear, Allison T.; Woolbert, Seth K.; Baxter, Ronald D.; DiMaio, J. Michael; Brinkman, William T.
• Is Part Of: Journal of investigative medicine high impact case reports. Volume 8(2020)
• Publication Date: 2020-02
• Subjects: ARIH1 -- aortic aneurysm -- aortic dissection; Internal medicine -- Periodicals; Medical care -- Periodicals; 616.005
• DOI: 10.1177/2324709620909234
• Languages: English
• ISSNs: 2324-7096

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.