*Transforming growth factor-β receptor 1 and 2 (TGFBR 1 and 2)*

There have been found mutations in these genes in some of the MFS diagnosed patients or thos with MFS's suspicion. These patients present a more aggressive form of the vascular disease, with dissections and ruptures at earlier ages and with smaller diameters. Initially they were identified by MFS's type 2, leaving the type 1 for mutations in the FBN1 gene. Later, these patients with marfanoid phenotype, aggressive vascular disease and other morphologic features (hyperterolism, bifid uvula, …) were grouped in Loeys-Dietz's syndrome. Thus, we can find it with both nomenclatures.
