Diagnostic Criteria for Marfan Syndrome (MFS)

09/08/14 1:42 pm

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Diagnostic Criteria for Marfan Syndrome (MFS)

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Written by G. Firman MD
Wednesday, 02 January 2013 04:52

Marfan syndrome is currently diagnosed using criteria based on an evaluation of the family history, molecular data, and 6 organ
systems.
Diagnostic Criteria for Marfan Syndrome (MFS)

The Ghent criteria consist of major and minor criteria. The major criteria are features or symptoms that are common in people
with Marfan syndrome and rare in people who do not have the syndrome.
Minor criteria are features or symptoms that are present in people with Marfan syndrome, but are also present in people who do
not have it.
To be diagnosed with Marfan syndrome using the Ghent criteria, you must have a number of different criteria as described below.
If you have a family history of Marfan syndrome, you will need to have one of the major criteria and one of the minor criteria that
affect different systems in your body, such as your skeleton and your blood vessels.
If you do not have a family history of Marfan syndrome, you will need to have two major criteria and one of the minor criteria that
affect different systems in your body.

Index case:
Major criteria in 2 different organ systems
AND involvement of a third organ system.
Relative of index case:
1 major criterion in family history
AND 1 major criterion in an organ system
AND involvement in second organ system.

SKELETAL
Major (Presence of at least 4 of the following manifestations)
pectus carinatum
pectus excavatum requiring surgery
reduced upper to lower segment ratio OR arm span to height ratio >1.05
wrist (Note 2) and thumb (Note 3) signs
scoliosis of >20 or spondylolisthesis
reduced extension at the elbows (<170)
medial displacement of the medial malleolus causing pes planus
protrusio acetabulae of any degree (ascertained on radiographs)
Minor
pectus excavatum of moderate severity
joint hypermobility
high arched palate with crowding of teeth
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Diagnostic Criteria for Marfan Syndrome (MFS)

09/08/14 1:42 pm

facial appearance
dolichocephaly,
malar hypoplasia,
enophthalmos,
retrognathia,
down-slanting palpebral fissures
INVOLVEMENT: 2 major criteria or 1 major and 2 minor

OCULAR
Major
ectopia lentis
Minor
flat cornea
increased axial length of the globe
hypoplastic iris OR hypoplastic ciliary muscle causing decreased miosis
INVOLVEMENT: 2 minor criteria

CARDIOVASCULAR
Major
dilatation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva
dissection of the ascending aorta
Minor
mitral valve prolapse with or without mitral valve regurgitation
dilatation of the main pulmonary artery, in the absence of valvular or peripheral pulmonic stenosis below the age of 40
years
calcification of the mitral annulus below the age of 40 years
dilatation or dissection of the descending thoracic or abdominal aorta below age of 50 years
INVOLVEMENT: 1 minor criterion

PULMONARY
Minor (only)
spontaneous pneumothorax
apical blebs
INVOLVEMENT: 1 minor criterion

SKIN AND INTEGUMENT

Minor (only)
striae atrophicae
recurrent or incisional hernia
INVOLVEMENT: 1 minor criterion

DURA
Major
lumbosacral dural ectasia by CT or MRI

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Diagnostic Criteria for Marfan Syndrome (MFS)

09/08/14 1:42 pm

FAMILY/GENETIC HISTORY
Major
first degree relative who independently meets the diagnostic criterion.
presence of mutation in FBN1 known to cause Marfan syndrome
presence of haplotype around FBN1 inherited by descent and unequivocally associated with diagnosed Marfan syndrome
in the family

References:
1. Radonic T, de Witte P, Groenink M, de Bruin-Bon RA, Timmermans J, Scholte AJ, van den Berg MP, Baars MJ, van
Tintelen JP, Kempers M, Zwinderman AH, Mulder BJ. Critical appraisal of the revised Ghent criteria for diagnosis of
Marfan syndrome. Clin Genet. 2011 Oct;80(4):346-53. [Medline]
2. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L,
Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan
syndrome. J Med Genet. 2010 Jul;47(7):476-85. [Medline]
3. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome.
Am J Med Genet. 1996 Apr 24;62(4):417-26. [Medline]

Created Jun 07, 2013.

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Last Updated on Sunday, 23 February 2014 06:21

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