%0 Case Reports
%T A novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report.
%A Vecoli C
%A Foffa I
%A Vittorini S
%A Botto N
%A Esposito A
%A Costa S
%A Piagneri V
%A Festa P
%A Ait-Ali L
%J Per Med
%V 21
%N 3
%D 2024 Apr 18
%M 38634413
%F 2.119
%R 10.2217/pme-2023-0135
%X We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFβR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is pathogenic by altering acceptor splice site at - 1 position affecting pre-mRNA splicing. These data confirm that the diverging splicing in the TGF-β pathway genes may be an important process in aneurismal disease and emphasize the utility of genetic sequencing in the identification of high-risk patients for a more patient's management able to improve outcomes and minimize costs for the care of patients with heritable thoracic aortic aneurysm and dissection.<BR>[Box: see text].