A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome

Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormali...

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Autores principales: Suh, Yoon Jung, Kwon, Hye Won, Kim, Gi Beom, Kwon, Bo Sang, Bae, Eun Jung, Noh, Chung Il, Choi, Jung Yun, Kim, Kyung Hwan, Kim, Yong Jin, Park, Sung Sup
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Cardiology 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341429/
https://www.ncbi.nlm.nih.gov/pubmed/22563345
http://dx.doi.org/10.4070/kcj.2012.42.4.288
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author Suh, Yoon Jung
Kwon, Hye Won
Kim, Gi Beom
Kwon, Bo Sang
Bae, Eun Jung
Noh, Chung Il
Choi, Jung Yun
Kim, Kyung Hwan
Kim, Yong Jin
Park, Sung Sup
author_facet Suh, Yoon Jung
Kwon, Hye Won
Kim, Gi Beom
Kwon, Bo Sang
Bae, Eun Jung
Noh, Chung Il
Choi, Jung Yun
Kim, Kyung Hwan
Kim, Yong Jin
Park, Sung Sup
author_sort Suh, Yoon Jung
collection PubMed
description Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-ßR 2 gene.
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spelling pubmed-33414292012-05-04 A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome Suh, Yoon Jung Kwon, Hye Won Kim, Gi Beom Kwon, Bo Sang Bae, Eun Jung Noh, Chung Il Choi, Jung Yun Kim, Kyung Hwan Kim, Yong Jin Park, Sung Sup Korean Circ J Case Report Loeys-Dietz syndrome is a recently described autosomal dominant disorder caused by mutations in the genes for transforming growth factor-beta receptor type 1 or 2 (TGF-ßR 1/2). The syndrome predisposes patients to aortic aneurysm and dissections, along with craniofacial and musculoskeletal abnormalities. Here we report the case of an adolescent who underwent serial near total aortic replacement, from the aortic valve to the descending aorta. Loeys-Dietz syndrome was confirmed in this case by the detection of a mutation in the TGF-ßR 2 gene. The Korean Society of Cardiology 2012-04 2012-04-26 /pmc/articles/PMC3341429/ /pubmed/22563345 http://dx.doi.org/10.4070/kcj.2012.42.4.288 Text en Copyright © 2012 The Korean Society of Cardiology http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Suh, Yoon Jung
Kwon, Hye Won
Kim, Gi Beom
Kwon, Bo Sang
Bae, Eun Jung
Noh, Chung Il
Choi, Jung Yun
Kim, Kyung Hwan
Kim, Yong Jin
Park, Sung Sup
A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
title A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
title_full A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
title_fullStr A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
title_full_unstemmed A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
title_short A Case of Near Total Aortic Replacement in an Adolescent With Loeys-Dietz Syndrome
title_sort case of near total aortic replacement in an adolescent with loeys-dietz syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3341429/
https://www.ncbi.nlm.nih.gov/pubmed/22563345
http://dx.doi.org/10.4070/kcj.2012.42.4.288
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