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.
|A major skeletal criterion is assigned when at least four
of the followings are present:
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°)
|Involvement of the skeletal system is diagnosed when two of
the major features, or one major feature and two of the followings
Pectus excavatum of mild severity
High palate with dental crowding
Characteristic face (dolicocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures).
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
Lens dislocation (ectopia lentis)
increased axial length of globe (causing myopia)
hypoplastic iris or ciliary muscle (causing decreased miosis)
Recurrent or incisional hernia
lumbosacral dural ectasia
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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- 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
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