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Automated Marfan Syndrome Diagnostic Checklist

Automated Marfan Syndrome Checklist
David W. Stockton, M.D., F.A.C.M.G.

Based on: The revised Ghent nosology for the Marfan syndrome. by 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. Journal of Medical Genetics 47: 476-485, 2010.

The 1996 Original Ghent Criteria checklist is also available.

Additional information at MIM 154700, GeneReviews, GeneTests, and the National Marfan Foundation

EXAMINER
EXAMINATION DATE
NAME 
DOB 
SEX 
M F
WEIGHT 
(kg grams pounds)
HEIGHT 
(cm inches)
FOC 
(cm inches)

REVISED GHENT CRITERIA
CARDINAL CLINICAL FEATURES
Y
N
?
ectopia lentis
dilatation of the ascending aorta with or without aortic regurgitation and involving at least the sinuses of Valsalva
Aortic root diameter (cm) Z-score,   Date of echo
Height (cm inches),  Weight (kg grams pounds)
dissection of the ascending aorta
presence of a mutation in FBN1 known to cause Marfan syndrome
FAMILY HISTORY
first degree relative who independently meets the diagnostic criteria.
NAME
RELATIONSHIP Father Mother Sibling Child
SCORING OF SYSTEMIC FEATURES
wrist AND thumb signs, see notes 1 and 2 below (3 points)
wrist sign thumb sign, (1 point if wrist OR thumb)
pectus carinatum deformity (2 points)
pectus excavatum or chest asymmetry (1 point)
hindfoot deformity (formerly medial displacement of the medial malleolus) (2 points)
plain pes planus (1 point)
spontaneous pneumothorax (2 points)
lumbosacral dural ectasia by CT or MRI (2 points)
protrusio acetabulae of any degree (ascertained on radiographs) (2 points)
reduced upper to lower segment ratio AND arm span to height ratio >1.05 without severe scoliosis (1 point)
Height Arm span Lower segment Upper segment (cm inches)
scoliosis of >20° or thoracolumbar kyphosis (1 point)
reduced extension at the elbows (<170°) (1 point)
facial appearance (3/5, 1 point)
dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures
striae atrophicae (stretch marks) not associated with marked weight changes, pregnancy or repetitive stress (1 point)
myopia > 3 diopters (1 point)
mitral valve prolapse, all types (1 point)

ORIGINAL GHENT CRITERIA NOT USED IN THE REVISED NOSOLOGY (BUT INCLUDED FOR BACKWARD COMPATIBILITY)
 
Skeletal
pectus excavatum requiring surgery (left for backward compatibility but scored with above)
joint hypermobility
high arched palate with crowding of teeth
 
Ocular
abnormally flat cornea (as measured by keratometry)
hypoplastic iris or hypoplastic ciliary muscle causing decreased miosis
 
Cardiovascular
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 the age of 50 years
 
Pulmonary
apical blebs (ascertained by chest radiography)
 
Skin and integument
recurrent or incisional hernias
 
Family/genetic history
presence of haplotype around FBN1 inherited by descent and unequivocally associated with diagnosed Marfan syndrome in the family

FEATURES OF SYNDROMES IN THE DIFFERENTIAL DIAGNOSIS
bifid uvula/cleft palate
arterial tortuosity
hypertelorism
diffuse aortic and arterial aneurysms
craniosynostosis
clubfoot
cervical spine instability
thin and velvety skin
easy bruising
mental retardation
crumpled ears
contractures
microspherophakia
brachydactyly
joint stiffness
lack of aortic root dilatation
thrombosis
lack of Marfanoid skeletal features
levido reticularis
iris flocculi
arterial stenosis
facial dysmorphism
middle sized artery aneurysm
severe valvular insufficiency
translucent skin
dystrophic scars
EDS facial characteristics
     

Diagnostic criteria interpretation
In the absence of a family history:
  1. Aortic root diameter Z-score ≥2 AND ectopia lentis *
  2. Aortic root diameter Z-score ≥2 AND an FBN1 mutation
  3. Aortic root diameter Z-score ≥2 AND systemic features score ≥7 pts *
  4. Ectopia lentis AND an FBN1 mutation with a known aortic root phenotype
In the presence of a family history:
  1. Ectopia lentis
  2. Systemic features score ≥7 pts *
  3. Aortic root diameter Z-score ≥3 for age <20 or ≥2 for age >20 *
* Without discriminating features of SGS, LDS, or vEDS AND after TGFBR1/2, collagen biochemistry, COL3A1 testing if indicated.
According to the Revised/2010 Ghent criteria:

Unlikely diagnosis of Marfan syndrome.
Unlikely diagnosis of Marfan syndrome.

Differential Diagnosis:

Notes

  1. wrist sign - thumb overlaps the distal phalanx of the fifth digit when grasping the contralateral wrist.
  2. thumb sign - entire nail of the thumb projects beyond the ulnar border of the hand when the hand is clenched without assistance.
  3. See the images reference page for examples and explanations.
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