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

Mohanad HamandiMadison L BolinJoy FanAllison T LanfearSeth K WoolbertRonald D BaxterJ Michael DiMaioWilliam T Brinkman

Published in: Journal of investigative medicine high impact case reports (2021)

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.

Keyphrases

aortic valve
left ventricular
pulmonary artery
aortic dissection
young adults
genome wide
copy number
mental health
heart failure
coronary artery
gene expression
transcription factor