The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate potential markers related to TAAD.

The aim of the study is to analyse cutaneous fibroblast properties in patients with thoracic aortic aneurysms (both syndromic and non-syndromic) to identify differences in molecular mechanisms in collagen turnover pathways compared to healthy controls in the general population.

Inclusion Criteria (general for the study):

signed informed consent; subjects aged 18 years and above.

Inclusion Criteria (Case):

subjects with Marfan syndrome and thoracic aortic aneurysms (in clinical follow-up or with cardiac surgery program); subjects with non-syndromic thoracic aortic aneurysms (in clinical follow-up or with cardiac surgery program);

Inclusion Criteria (healthy controls):

absence of any aortic/thoracic disease;

Exclusion Criteria (all groups):

• Presence of any confounding cardiovascular risk factor (hypertension, dyslipidaemia, diabetes, smoking habits) or previous cardiovascular disease
• 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;
• A history of keloid formation (data found in anamnesis and medical records);
• Anaesthetic drug allergy (data found in anamnesis and medical records).

resaerch hospital for rare cardiovascular diseases

IPD sharing will be defined at the active enrolment process of the study