Marfan syndrome is an autosomal dominant genetic pathology leading to cardiovascular outcomes (death, aortic dissection/rupture). In this study, we were interested in recognizing patients at risk for dissection. Pathologies of elastic tissue such as Marfan syndrome may induce a increase of the size of the vessels in diameter but also in length inducing arterial tortuosity. The importance of the tortuosity was evaluated via the arterial tortuosity index calculated like this: [(Actual length/straight length−1)×100]. In the literature, this ITV (vertebral tortuosity index) has been shown to be a predictive marker of events in patients with connective tissue disorders in children and young adults.

The aim of this study is to find its predictive value marker in adults patients with Marfan syndrome related to a FBN1 gene mutation.

We selected 2 populations: patients with Marfan syndrome related to a FBN1 gene mutation and the control population was selected of similar age, in whom imaging was performed. For each patient, measurements were performed. The calculation of the ITV was carried out according to the formula: [(actual length/straight length−1)×100].

ITV was higher in Marfan versus controls. The index of right vertebral tortuosity was significantly higher for Marfan FBN1 patients. The mean of the right ITV was 49.9±1.5 with 95% CI [46.8–53] for Marfan versus 34.1±1.5 for controls with 95% CI [31–37.2] and P<0.0001. The ITVs were globally significantly higher for patients with aortic dissections. The mean of the right ITV was 48±1.8 with 95% CI [44–51] for patients without dissection versus 65.5±5 with 95% CI [54–75] with P<0.05 (P=0.0033) for patients with dissection.

This study allowed us to demonstrate that tortuosity indexes were significantly higher in Marfan patients and that the right ITV was significantly higher in Marfan patients at risk for dissection.