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Article

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

Interactive cardiovascular and thoracic surgery - 15 Jun 2022

Heck Roland, Fischer-Zirnsak Björn, Photiadis Joachim, Horn Denise, Gehle Petra

Abstract excerpt

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...

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Identifiers

PMID: 35689619
DOI: 10.1093/icvts/ivac159
PMCID: PMC9240761

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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