Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2.
Roland HeckBjörn Fischer-ZirnsakJoachim PhotiadisDenise HornPetra GehlePublished in: Interactive cardiovascular and thoracic surgery (2022)
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.
Keyphrases
- pulmonary artery
- aortic dissection
- aortic valve
- coronary artery
- gene expression
- pulmonary hypertension
- case report
- pulmonary arterial hypertension
- signaling pathway
- dna methylation
- left ventricular
- copy number
- genome wide
- pi k akt
- cell proliferation
- oxidative stress
- epithelial mesenchymal transition
- atrial fibrillation
- endoplasmic reticulum stress