INTRODUCTION: Marfan syndrome (MFS, OMIM #154700) is an autosomal dominant inherited disorder with a prevalence in the general population of about 3/10,000. It mainly affects connective tissue due to mutations in the FBN1 gene (15q21.1) that codes for fibrillin-1. The prognosis of patients with MFS is dominated by the high risk of aortic dissection or rupture. Peri-vascular adipose tissue attenuation (PVAT) applied to thoracic angioTC (CTA) is a marker of localised vascular inflammation that is greater in ascending aortic aneurysm than in healthy controls and is associated with in-situ increase of fibrotic tissue. In patients with MFS there is excessive deposition of collagen and proteoglycans with increased wall stiffness that could be identified by PVAT analysis prior to aneurysm development.
MATERIAL: We enrolled 54 consecutive patients with a genetic diagnosis of MFS undergoing control CTA and 43 subjects at low cardiovascular risk undergoing CTA for chest pain. EXCLUSION CRITERIA: presence of aortic pathology; presence of at least one cardiovascular risk factor; previous vascular surgery/cardiac surgery; ischaemic cardiovascular pathology; presence of significant coronary atherosclerotic pathology; current or previous neoplasm; chronic inflammatory/infectious diseases.
RESULTS: There were no statistically significant differences in age, gender and diameter of the ascending aorta between patients in the MFS group and controls. In contrast, PVAT in the ascending aorta appears greater in patients diagnosed with MFS (0.001).
CONCLUSION: In MFS patients with a normal aortic diameter the degree of vascular fibrosis estimated by PVAT is greater than in healthy controls; PVAT may therefore play a role in the MFS diagnostic process, allowing a potential economic benefit.
