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- Title
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2.
- Authors
Heck, Roland; Fischer-Zirnsak, Björn; Photiadis, Joachim; Horn, Denise; Gehle, Petra
- Abstract
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.
- Publication
Interactive Cardiovascular & Thoracic Surgery, 2022, Vol 35, Issue 1, p1
- ISSN
1569-9293
- Publication type
Article
- DOI
10.1093/icvts/ivac159