Comments and Conclusions

  • In 1896, Marfan syndrome was first described by a French pediatrician, Antoine Marfan, in a case of a 5 year old girl with disproportionately long and thin arms, legs, fingers and toes.7
  • Marfan syndrome is now known to be an autosomal dominant disorder of connective tissue, caused by mutations in the FBN1 gene on chromosome 15q21 encoding a large glycoprotein termed fibrillin-1. Fibrillin-1 is a main component of extracellular microfibrils found in a large range of tissue.8
  • Clinical manifestations occur primarily in the skeletal, ocular and cardiovascular systems.7,9
  • Marfan syndrome has an incidence of about 1 in 5,000 and more than 500 mutations have been identified in the FBN1 gene.9,10
  • Lens subluxation aka ectopia lentis occurs in more than 50% of patients with Marfan syndrome and retinal detachments occur in 5-25% 11
  • The leading cause of premature death in untreated patients with Marfan syndrome is acute aortic dissection.7