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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).… Click to show full abstract
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.
Keywords:
aortic phenotypes;
phenotypes similar;
different ascending;
ascending aortic;
dietz syndrome;
loeys dietz
Journal Title: Interactive Cardiovascular and Thoracic Surgery
Year Published: 2022
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Journal Title: Interactive Cardiovascular and Thoracic Surgery
Year Published: 2022
Link to full text (if available)
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recommendations!