The Marfan Foundation

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Calculation of Systemic Score

Clinical manifestations of MFS in other organ systems were critically evaluated for their specificity and diagnostic utility based on expert opinion and the available literature. Several of the “minor” criteria from the old Ghent nosology were eliminated, but the most selective systemic features were included in the “systemic score”.
Feature
Value
Click to include
Wrist AND thumb sign
3
The thumb sign is positive when the entire distal phalanx of the adducted thumb extends beyond the ulnar border of the palm with or without the assistance of the patient or examiner to achieve maximal adduction. The wrist sign is positive when the tip of the thumb covers the entire fingernail of the fifth finger when wrapped around the contralateral wrist.
Wrist OR thumb sign
1
The thumb sign is positive when the entire distal phalanx of the adducted thumb extends beyond the ulnar border of the palm with or without the assistance of the patient or examiner to achieve maximal adduction. The wrist sign is positive when the tip of the thumb covers the entire fingernail of the fifth finger when wrapped around the contralateral wrist.
Pectus Carinatum Deformity
2
Pectus carinatum is believed to be more specific for MFS than pectus excavatum and is assigned two points. Subjective qualifiers in the original Ghent criteria such as “requiring surgery” have been eliminated but the examiner should be confident that a positive finding (pectus excavatum or chest wall asymmetry) extends beyond normal variation of chest contour in the general population before assigning one point.
Pectus Excavatum or Chest Asymmetry
1
Pectus carinatum is believed to be more specific for MFS than pectus excavatum and is assigned two points. Subjective qualifiers in the original Ghent criteria such as “requiring surgery” have been eliminated but the examiner should be confident that a positive finding (pectus excavatum or chest wall asymmetry) extends beyond normal variation of chest contour in the general population before assigning one point.
Hindfoot Deformity
2
Hindfoot valgus in combination with forefoot abduction and lowering of the midfoot (previously referred to as medial rotation of the medial malleolus) should be evaluated from anterior and posterior view. The examiner should distinguish this from the more common “flat foot” (one point) without significant hindfoot valgus.

a. Summers KM et al. Challenges in the diagnosis of Marfan syndrome. MJA 2006; 184: 627–631.

Plain Flat Foot
1
Plain Flat Feet (Pes planus) is a condition in which the arch or instep of the foot collapses and comes in contact with the ground. In some individuals, this arch never develops while they are growing.
Spontaneous Pneumothorax
2
Any spontaneously-occurring pneumothorax.
Dural Ectasia
2
For the detection of lumbosacral dural ectasia, no preferred method (CT or MRI) or uniformly accepted cut-offs have emerged from the literature and local standards should apply.
Protucio Acetabulae
2
On X-ray anterior-posterior pelvis angle, the medial protrusion of the acetabulum above 3 mm beyond the ilio-ischial (Kohler) line is diagnostic. Criteria on CT or MRI are not precisely defined, but involve loss of the normal oval shape of the pelvic inlet at the level of the acetabulum.
Scoliosis or Thoracolumbar Kyphosis
1
Scoliosis can be diagnosed either clinically if, upon bending forward, a vertical difference of least 1.5 cm between the ribs of the left and right hemithorax is observed or if a Cobb’s angle (angle between a line drawn along the superior end plate of the superior end vertebra and a second line drawn along the inferior end plate of the inferior end vertebra of the scoliosis measured on anterior-posterior view of the spine) of at least 20° is seen on radiographs. In the absence of scoliosis, one point can be contributed by the presence of an exaggerated thoracolumbar kyphosis.
Reduced Elbow Extension
1
Elbow extension is considered reduced if the angle between the upper and lower arm measures 170º or less upon full extension.
3 of 5 Facial Features
1
One point can be assigned based upon facial characteristics if the patient shows at least three of these five typical facial characteristics:
  • Dolichocephaly - disproportionately long and narrow head
  • Downward slanting palpebral fissures - down-slanting of the space between the eyelids
  • Enophthalmos - recession of the eyeball within the orbit
  • Retrognathia - condition in which either or both jaws recede with respect to the frontal plane of the forehead
  • Malar hypoplasia - underdeveloped cheekbones
Skin Striae
1
Striae atrophicae are considered significant as a diagnostic feature if they are not associated with marked weight changes (or pregnancy) and if they have an uncommon location, such as the mid-back, lumbar region, the upper arm, axillary region or thigh.
Severe Myopia
1
Given that myopia is very common in MFS, is routinely monitored, and tends to show early onset, high severity and rapid progression, myopia of greater than 3 diopters contributes to the systemic score for diagnosis. However, because myopia is quite common finding in the general population we have only attributed one point to it in the systemic score.
Mitral Valve Prolapse
1
Mitral valve prolapse should be defined by echocardiography as protrusion of one or both of the mitral valve leaflets across the plane of the mitral annulus during systole. This is best detected in parasternal long-axis or apical long-axis 3-chamber or 2-chamber views. There are no special criteria for diagnosing MVP in MFS and standard practices should be applied.
Reduced Upper Segment / Lower Segment & Increased Arm span / Height
0
Open to calculate

Height (cm) :

Arm span (cm) :

Lower segment (cm) :
(The lower segment is defined as the distance from the top of the symphysis pubis to the floor in the standing position)

Caucasian Black

Upper/Lower Segment Ratio < 0.85 in whites, <0.78 in blacks AND Increased Arm Span/Height > 1.05 contributes 1 point to the systemic score.

Calculate

Upper/Lower Segment Ratio : 0.00

Arm Span/Height Ratio : 0.00

*A score of ≥ 7 is considered a positive systemic score.

Note to physician: You may email this form to yourself to include in your patient file. You should use a unique identifier, not the patient’s name to preserve confidentiality.

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