Table 1 Ghent diagnostic criteria for Marfan's syndrome. Major Criteria needed in two organ systems and minor criterion in a third system.
System | Major criteria | Minor criteria |
---|---|---|
Family history | Independent diagnosis in parent, child or sibling | None |
Genetics | Mutation FBN1 | None |
Cardiovascular | Aortic root dilatation, dissection of ascending aorta | Mitral valve prolapse, calcification of the mitral valve (<40 years), dilatation of the pulmonary artery, dilatation/dissection of descending aorta |
Ocular | Ectopia lentis | 2 needed of the following: flat cornea elongated globe myopia |
Skeletal | At least 4 of the following: pectus excavatum needing surgery, pectus carinatum, pes planus, positive wrist or thumb sign, scoliosis >20° or spondylolisthesis, armspan‐height ratio >1.05, protrusio acetabulae, diminished extension elbows (<170°) | For the skeletal system to be involved 2–3 major, or 1 major and 2 minor signs should be present: moderate pectus excavatum, high arched palate, typical facial features, joint hypermobility |
Pulmonary | Spontaneous pneumothorax, apical bulla | |
Skin | Striae, recurrent or incisional herniae | |
Central nervous system | Lumbosacral dural ectasia |
Lumbosacral dural ectasia and protrusio acetabulae are diagnosed using magnetic resonance imaging or a computed tomography scan.