Therapy of Marfan syndrome

Annu Rev Med. 2008:59:43-59. doi: 10.1146/annurev.med.59.103106.103801.

Abstract

Marfan syndrome is a common inherited disorder of connective tissue caused by deficiency of the matrix protein fibrillin-1. Effective surgical therapy for the most life-threatening manifestation, aortic root aneurysm, has led to a nearly normal lifespan for affected individuals who are appropriately recognized and treated. Traditional medical therapies, such as beta-adrenergic receptor blockade, are used to slow pathologic aortic growth and decrease the risk of aortic dissection by decreasing hemodynamic stress. New insights regarding the pathogenesis of Marfan syndrome have developed from investigation of murine models of this disorder. Fibrillin-1 deficiency is associated with excess signaling by transforming growth factor beta (TGFbeta). TGFbeta antagonists have shown great success in improving or preventing several manifestations of Marfan syndrome in these mice, including aortic aneurysm. These results highlight the potential for development of targeted therapies based on discovery of disease genes and interrogation of pathogenesis in murine models.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Aortic Aneurysm / etiology
  • Aortic Aneurysm / surgery
  • Cardiovascular Agents / therapeutic use
  • Endocarditis / etiology
  • Endocarditis / prevention & control
  • Humans
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / etiology
  • Marfan Syndrome / therapy*

Substances

  • Cardiovascular Agents