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Marfan syndrome - diagnostic assessment

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Marfan Syndrome (MIM 154700) is an autosomal dominant disorder of the connective tissue, mainly affecting cardiovascular, ocular, skeletal and nervous system. Its prevalence is estimated to be 1:5.000. MFS is caused by mutations of the fibrillin (FBN1) gene (FBN1, MIM 134797) in more than 90% of cases, and by mutations of the TGFBR2 gene (MIM 154705) in a minority of cases with prevalent cardio-skeletal involvement.

Diagnostic criteria are well established and known as Ghent criteria (or nosology) (DePaepe et al. 1996). In adult patients, the combination of signs corresponding to Ghent criteria provides the clinical diagnosis in the majority of cases. In children, especially when family history is negative, genotyping may contribute to the diagnosis.

In the Ghent criteria, clinical [cardiovascular, skeletal, ocular, pulmonary, skin, nervous ], and genetic features define either a major criterion or involvement of one organ/system. The diagnosis of MFS is formulated when two major criteria in two different organ systems plus the involvement of a further organ system are present. The Ghent criteria must be rigorously applied to avoid misdiagnoses that may negatively impact patients and families without MFS, and vice versa to provide the correct diagnosis to patients/families with MFS.

Ghent Criteria

Skeletal system
A major skeletal criterion is assigned when at least four of the followings are present:
Pectus carinatum
Pectus excavatum requiring surgery
Upper to lower segment ratio < 0.86 or span/height >1.05
Wrist and thumb signs: both signs should be present to diagnose Arachnodactily according to the Ghent criteria
Scoliosis > 20° or spondylolithesis
Reduced elbow extension (<170°)
Pes planus
Protrusio acetabulae
Involvement of the skeletal system is diagnosed when two of the major features, or one major feature and two of the followings are present:
Pectus excavatum of mild severity
Joint hypermobility
High palate with dental crowding
Characteristic face (dolicocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures).
Cardiovascular system
aortic root dilation
dissection of the ascending aorta
mitral valve prolapse
dilation of the pulmonary artery 
calcified mitral annuls in individuals < 40 years of age
other dilation or dissection of the aorta
Ocular system
Lens dislocation (ectopia lentis)
flat cornea
increased axial length of globe (causing myopia)
hypoplastic iris or ciliary muscle (causing decreased miosis)
Skin/integument system
Striae atrophicae
Recurrent or incisional hernia 
Pulmonary system 
spontaneous pneumothorax
apical blebs 
Nervous system 
lumbosacral dural ectasia 
Genetic criteria 
parent, child or sibling meets the criteria independently
FBN1 mutations known to cause MFS 
Inheritance of DNA marker haplotype linked to MFS in the family 

Reference: European Genetics Foundation

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Document Control

  • Date last published: 04 August 2008
  • Document type: Clinical Guideline
  • Services responsible: Paediatric Cardiology
  • Author(s): Tim Hornung
  • Editor: Marion Hamer
  • Review frequency: 2 years