Publikace na 3. lékařská fakulta |
2023
Abstrakt
We report the case of a 24 year old male patient with a genetically confirmed diagnosis of Loeys - Dietz syndrome who tested positive for the pathogenic variant c.1322C>T; p.(Ser441Phe) in exon 5 of the TGFBR2 gene (NM_003242.6). Since birth he was diagnosed with a common arterial trunk, a ventricular septal defect and an aneurysm of the patent arterial duct.
He has gone through several cardiovascular surgical procedures and at the age of 12 he was treated for mediastinitis due to staphylococcal infection. He is on permanent coumarin-anticoagulant therapy.