Revised Ghent Nosology (Marfan Syndrome)

What the result means

No family history

Aortic root Z 2 or more PLUS any one of: ectopia lentis; an FBN1 mutation; a systemic score of 7 or more. Each establishes Marfan syndrome.

Rule 4

Ectopia lentis with an FBN1 mutation KNOWN to be associated with aortic disease is Marfan syndrome. With one not known with it, the same patient is ectopia lentis syndrome.

Family history

Ectopia lentis alone, or a systemic score of 7 or more alone, or aortic dilatation alone, each suffice.

The age threshold

In the family-history aortic rule ONLY, the threshold is Z 2 from age 20 but Z 3 below 20. Using the adult figure for a child with an affected parent overcalls Marfan syndrome.

MASS

Aortic root Z under 2, systemic score 5 or more with at least one skeletal feature, no ectopia lentis.

MVPS

Mitral valve prolapse with aortic root Z under 2 and a systemic score under 5, no ectopia lentis.

Systemic score

Out of 20. Wrist AND thumb 3, either alone 1; pectus carinatum 2, excavatum 1; hindfoot deformity 2, pes planus 1; pneumothorax, dural ectasia, protrusio 2 each.

The caveat

Three routes hold only without discriminating features of Shprintzen-Goldberg, Loeys-Dietz or vascular Ehlers-Danlos, and after the indicated genetic testing.