Automated Marfan Syndrome Diagnostic Checklist

EXAMINER
EXAMINATION DATE

NAME

DOB

SEX

M F

WEIGHT

(kg grams pounds)

HEIGHT

(cm inches)

FOC

(cm inches)

REVISED GHENT CRITERIA

CARDINAL CLINICAL FEATURES

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:

Aortic root diameter Z-score ≥2 AND ectopia lentis *
Aortic root diameter Z-score ≥2 AND an FBN1 mutation
Aortic root diameter Z-score ≥2 AND systemic features score ≥7 pts *
Ectopia lentis AND an FBN1 mutation with a known aortic root phenotype

Ectopia lentis with or without systemic features and no FBN1 mutation or a mutation not known to have an aortic phenotype is ectopia lentis syndrome (ELS)
Aortic root diameter Z-score <2 AND systemic features score ≥5, with at least one skeletal feature, without ectopia lentis is MASS (myopia, mitral valve prolapse, borderline aortic root dilatation, striae, skeletal findings) phenotype
Mitral valve prolapse AND aortic root diameter Z-score <2 AND systemic features score <5 without ectopia lentis is mitral valve prolapse syndrome (MVPS)

In the presence of a family history:

Ectopia lentis
Systemic features score ≥7 pts *
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.

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

Differential Diagnosis:

Notes

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

Differential Diagnosis:

Notes

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