Marfan syndrome: clinical manifestations, pathophysiology and new outlook on drug therapy
Lebreiro, A.; Martins, E.; Cruz, C.; Almeida, J.; Maciel, M.J.úl.; Cardoso, J.é C.; Lima, C.A.
Revista Portuguesa de Cardiologia Orgao Oficial da Sociedade Portuguesa de Cardiologia 29(6): 1021-1036
2010
ISSN/ISBN: 0870-2551 PMID: 20964113 Document Number: 638030
Marfan Syndrome (MFS) is a genetic disorder of the connective tissue with multisystemic manifestations, which typically involves the skeletal, cardiovascular and ocular systems. It is usually associated with fibrillin-1 (FBN1) gene mutations, an extracellular matrix protein, and its diagnosi requires the presence of several clinical criteria, called the Ghent criteria. Studies with animal models have helped understand some of the pathophysiologic mechanisms of the syndrome, and the core role of transforming growth factor, (TGF-beta) signalling pathways in these mutations. These findings created new therapeutic opportunities, like the use of losartan, known to have an antagonistic effect on TGF-beta. With the aging of this population, new clinical manifestations are expected, requiring close and continued MFS patient monitoring.