Table 1

Revised Ghent Criteria for the Diagnosis of Marfan Syndrome

In the absence of a family history of Marfan syndrome, any of the following:
  • 1. Dilated aorta (z score >2) and ectopia lentis = Marfan syndrome

  • 2. Dilated aorta (z score >2) and FBN1 mutation = Marfan syndrome

  • 3. Dilated aorta (z score >2) and systemic score >7 (see Table 2) = Marfan syndrome

  • 4. Ectopia lentis and FBN1 associated with known aortic dilatation = Marfan syndrome

In the presence of a family history of Marfan syndrome, any of the following:
  • 5. Ectopia lentis and family history of Marfan syndrome = Marfan syndrome

  • 6. Systemic score >7 and family history of Marfan syndrome = Marfan syndrome

  • 7. Dilated aorta (z score >2 at age ≥20 y; z score >3 at <20 y of age) and family history of Marfan syndrome = Marfan syndrome

Modified with permission from Loeys et al. (2) Copyright © 2010, British Medical Journal Publishing Group.

  • Caveat: Without discriminating features of another connective tissue disorder such as Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, or Shprintzen-Goldberg syndrome, and after mutation analysis for TGFBR1, TGFBR2, TGFB2, SMAD3, SKI, COL3A1, or other genes as appropriate. Other genes/conditions will emerge with time.