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

doi:10.1177/2324709620909234

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 journal › Article › peer-review

3 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 language	English
Journal	Journal of Investigative Medicine High Impact Case Reports
Volume	8
DOIs	https://doi.org/10.1177/2324709620909234
State	Published - 2020
Externally published	Yes

Keywords

aortic aneurysm
aortic dissection
ARIH1

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10.1177/2324709620909234

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@article{69e067e42f9b4e82860023717d0b358e,

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

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.",

keywords = "aortic aneurysm, aortic dissection, ARIH1",

author = "Mohanad Hamandi and Bolin, \{Madison L.\} and Joy Fan and Lanfear, \{Allison T.\} and Woolbert, \{Seth K.\} and Baxter, \{Ronald D.\} and DiMaio, \{J. Michael\} and Brinkman, \{William T.\}",

note = "Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Supported by a generous grant from the Satish and Yasmin Gupta Family Foundation. Publisher Copyright: {\textcopyright} 2020 American Federation for Medical Research.",

year = "2020",

doi = "10.1177/2324709620909234",

language = "English",

volume = "8",

journal = "Journal of Investigative Medicine High Impact Case Reports",

issn = "2324-7096",

publisher = "SAGE Publications Ltd",

}

TY - JOUR

T1 - A Newly Discovered Genetic Disorder Associated With Life-Threatening Aortic Disease in a 6-Year-Old Boy

AU - Hamandi, Mohanad

AU - Bolin, Madison L.

AU - Fan, Joy

AU - Lanfear, Allison T.

AU - Woolbert, Seth K.

AU - Baxter, Ronald D.

AU - DiMaio, J. Michael

AU - Brinkman, William T.

N1 - Funding Information: The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Supported by a generous grant from the Satish and Yasmin Gupta Family Foundation. Publisher Copyright: © 2020 American Federation for Medical Research.

PY - 2020

Y1 - 2020

N2 - 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.

AB - 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.

KW - aortic aneurysm

KW - aortic dissection

KW - ARIH1

UR - https://www.scopus.com/pages/publications/85081338794

U2 - 10.1177/2324709620909234

DO - 10.1177/2324709620909234

M3 - Article

C2 - 32102558

AN - SCOPUS:85081338794

SN - 2324-7096

VL - 8

JO - Journal of Investigative Medicine High Impact Case Reports

JF - Journal of Investigative Medicine High Impact Case Reports

ER -

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

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Keywords

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