This study examines adults with COL5A gene mutations to understand why some develop aortic aneurysms while others do not. Participants provide a small skin biopsy, and researchers analyze fibroblasts to evaluate collagen production, extracellular matrix organization, and connective-tissue signaling pathways. The goal is to identify biological differences that may explain variable vascular risk and support future personalized monitoring and treatment strategies.
Subjects aged 18 and above
Mutation in COL5A
Signed informed consent
Corticosteroid or Steroids or Fluorochinolones treatment within six months before enrollment
Subjects on chronic immunosuppressive therapies such as oral steroids, but also on chronic topical steroids in the area of investigation
Subject on anticoagulant therapy
History of coagulation factor defects/alterations (data found in anamnesis and medical records)
Research hospital for rare cardiovascular diseases
Case-control
Cross-sectional
Not listed
Fibroblasts phenotype
In vitro characterization and evaluation of fibroblasts phenotype in adult patients with COL5A mutations with or without aortic involvement (ascending and descending aortic aneurysms)
Differences molecular mechanisms in collagen
Identify differences in molecular mechanisms involved in collagen and ECM turnover pathways between family members according to the vascular manifestation and the genetic mutation in COL5A gene
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