The investigators will collect peripheral blood and aortic aneurysm tissues specimens from consenting subjects. For all three groups of MFS patients, total RNA will be isolated from peripheral whole blood, plasma and peripheral blood mononuclear cell (PBMC) and processed for transcriptomic analyses by RNAseq. Plasma will be used to determine cytokine and chemokine levels, using a luminex panel designed for inflammation biomarkers (serum proteomics). For all patients undergoing surgery, tissue specimens will be used for transcriptomic and epigenetic analysis, histological sections and serum proteomics.
This project is designed to discover circulating biomarkers for aortic aneurysms in adults affected by Marfan Syndrome (MFS). The first aim is to identify circulating transcripts, protein-coding (mRNA) and not (ncRNAs), which show differential expression between three groups of adult patients affected by MFS, based on: presence or absence of thoracic aortic aneurysms (TAA) and indication of TAA-surgery. This obtained TAA_MFS_signature will then be correlated to fundamental biological parameters, like cytokines and chemokines relevant during inflammation and transcriptomic as well as epigenetics changes in aortic aneurysm tissue. Furthermore, the association of TAA_MFS_signature to genetic, clinical and instrumental parameters at present used for diagnosis and treatment, will be evaluated.