Marfan syndrome: clinical manifestations, pathophysiology and new outlook on drug therapy.
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.
Lebreiro
Ana
A
Serviços de Cardiologia do Hospital de S. João, Porto, Portugal. ana.lebreiro@gmail.com
Martins
Elisabete
E
Cruz
Cristina
C
Almeida
Jorge
J
Maciel
Maria Júlia
MJ
Cardoso
José Carlos
JC
Lima
Cassiano Abreu
CA
D002318:Cardiovascular Diseases / Q000209:etiology / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology