Abstract
Background: Marfan syndrome (MFS) is a rare autosomal dominant disorder affecting connective tissues due to mutations in the fibrillin-1 gene. These genetic changes often result in severe cardiovascular conditions, including asymptomatic thoracic aortic dilation potentially leading to dissection or rupture. Perivascular adipose tissue attenuation (PVAT) observed on computed tomography may serve as a marker of localized inflammation and indicate early histopathological changes in the vascular walls of MFS patients compared to healthy individuals. Objective: This study aimed to compare PVAT values between patients with MFS and healthy controls in order to explore whether MFS patients show higher PVAT secondary to these histopathological abnormalities. Methods: This case-control study assessed PVAT on ascending aorta through computed tomography angiography (CTA) in 54 genetically confirmed MFS patients and 43 controls with low ischemic risk, excluding those with known aortic aneurysms. Results: PVAT analysis revealed significant differences between the MFS patients and healthy controls (-70.6 HU [-72.6 HU to -68.5 HU] versus -75.1 HU [-77.1 HU to -73.1 HU], p = 0.002), suggesting potential early vascular changes in the MFS group. Conclusions: The findings underscore the potential diagnostic role of PVAT in patients with genetically confirmed MFS but normal ascending aorta diameter.