Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome

Our article provides a useful contribution in defining the role of TGFBR1 and TGFBR2 genes in Marfan syndrome, because inconclusive results from literature concerning their association with this disorder are still present. Our data do not support the role of mutations in TGFBR1 and TGFBR2 genes as major determinants of MFS phenotype; nevertheless, they suggest a role of these genes as modulator of cardiovascular manifestations' severity in patients with Marfan syndrome, thus underlining the importance of the deep understanding of the genetic background in monogenic syndromic disorders.