Marfan's syndrome

From Ganfyd

(Redirected from Marfans syndrome)
Jump to: navigation, search

Contents

Aetiology

  • Missense mutations of fibrillin-1 gene (FBN1) on chromosome 15.
  • Causes production of an abnormal fibrillin protein that when combined with normal fibrillin results in weak connective tissue. (ie a dominant negative aetiology).
  • Causes production of excess active transforming growth factor beta (TGF-&beta).

Diagnosis

Presentation

Occasionally

Diagnostic criteria

See 1996 REVISED CRITERIA FOR THE MARFAN SYNDROME

Treatment

  • Mouse model of Marfan's responds to Losartan a TGF-β antagonist.[1]
  • Probably also explains why beta blockers currently the treatment of choice in Marfan's work, but they are weaker TGF-β antagonists.

External links

References

Personal tools