A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy-Reference-Cited by-同舟云学术

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

Published:2020-01 Issue: Volume:8 Page:232470962090923
ISSN:2324-7096
Container-title:Journal of Investigative Medicine High Impact Case Reports
language:en
Short-container-title:Journal of Investigative Medicine High Impact Case Reports

Author:

Hamandi Mohanad¹^ORCID,Bolin Madison L.¹,Fan Joy¹,Lanfear Allison T.¹^ORCID,Woolbert Seth K.¹,Baxter Ronald D.¹,DiMaio J. Michael¹,Brinkman William T.¹

Affiliation:

1. Baylor Scott and White—The Heart Hospital, Plano, TX, USA

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.

Funder

Satish and Yasmin Gupta Family Foundation

Publisher

SAGE Publications

Subject

Safety Research,Safety, Risk, Reliability and Quality,Epidemiology

Link

http://journals.sagepub.com/doi/pdf/10.1177/2324709620909234

Reference9 articles.

1. Thoracic Aortic Aneurysm Syndrome in Children

2. Aortic root dilatation among young competitive athletes: Echocardiographic screening of 1929 athletes between 15 and 34 years of age

3. Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms

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