Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2

Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the ascending aorta were restricted to different segments of the aorta: the suprajuncti...

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Autores principales: Heck, Roland, Fischer-Zirnsak, Björn, Photiadis, Joachim, Horn, Denise, Gehle, Petra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Congenital
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240761/
https://www.ncbi.nlm.nih.gov/pubmed/35689619
http://dx.doi.org/10.1093/icvts/ivac159
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author Heck, Roland
Fischer-Zirnsak, Björn
Photiadis, Joachim
Horn, Denise
Gehle, Petra
author_facet Heck, Roland
Fischer-Zirnsak, Björn
Photiadis, Joachim
Horn, Denise
Gehle, Petra
author_sort Heck, Roland
collection PubMed
description Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the ascending aorta were restricted to different segments of the aorta: the suprajunctional segment in 1 patient and the aortic root in another. These cases highlight the complexity of signaling pathways and gene expression in the pathogenesis of aortic aneurysms.
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spelling pubmed-92407612022-06-29 Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2 Heck, Roland Fischer-Zirnsak, Björn Photiadis, Joachim Horn, Denise Gehle, Petra Interact Cardiovasc Thorac Surg Congenital Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the ascending aorta were restricted to different segments of the aorta: the suprajunctional segment in 1 patient and the aortic root in another. These cases highlight the complexity of signaling pathways and gene expression in the pathogenesis of aortic aneurysms. Oxford University Press 2022-06-11 /pmc/articles/PMC9240761/ /pubmed/35689619 http://dx.doi.org/10.1093/icvts/ivac159 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Congenital
Heck, Roland
Fischer-Zirnsak, Björn
Photiadis, Joachim
Horn, Denise
Gehle, Petra
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
title Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
title_full Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
title_fullStr Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
title_full_unstemmed Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
title_short Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
title_sort different ascending aortic phenotypes with similar mutations in 2 patients with loeys-dietz syndrome type 2
topic Congenital
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240761/
https://www.ncbi.nlm.nih.gov/pubmed/35689619
http://dx.doi.org/10.1093/icvts/ivac159
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