Ghent nosology of Marfan's syndrome
Last reviewed 01/2018
The Ghent nosology, defining the major criteria, is described.For diagnosis of Marfan's syndrome, major findings are required in two out of the three main systems affected (heart; eyes; skeleton) as well as involvement of a third organ system. Very few patients match up to these strict criteria.
Skeletal system (four or more of)
- Pectus carinatum
- Pectus excavatum
- Span to height >1.05
- Wrist and thumb signs
- Scoliosis >20°
- Elbow extension <170°
- Pes planus
- Protrusio acetabulae
Dura
- Lumbosacral dural ectasia by CT or MRI
Ocular system
- Ectopia lentis
Cardiovascular system
- Dilatation of ascending aorta involving at least sinuses of Valsalva
- Dissection of ascending aorta
- Family/genetic history
- First degree relative with Marfan's syndrome
- Presence of FBN-1 mutation
For index case: Diagnosis requires major criteria in at least two different organ systems and involvement of a third organ system
For a relative of an index case: Major criterion in one organ system and involvement of a second organ system
Reference:
- ARC (February 2005). Topical Reviews - Heritable Collagen Disorders.