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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Detalles Bibliográficos
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
Descripción
Sumario: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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