Ocular

Myopia

50%

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Ectopia lentis

~60%

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—

Retinal detachment

25%

—

—

Glaucoma

~30%

—

—

Early cataracts

25%

—

—

Skeletal2

Joint laxity

50%

—

Disproportionately long extremities for size of trunk (dolichostenomelia)

50%

Typically due to bone overgrowth

—

Pectus anomaly3

~50%

Excavatum carinatum have both been described.

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Scoliosis

~60%

Ranges from mild to severe progressive

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Cardiovascular4

Dilatation of aorta at level of sinuses of Valsalva

80%

—

Aortic tear rupture

25%

Risk is greatly w/proper medical surgical mgmt.

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Mitral valve prolapse

50%

W/or w/o regurgitation

—

Tricuspid valve prolapse

25%

Enriched in those w/infantile presentations of severe MFS

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Enlargement of the proximal pulmonary artery

~50%

Dissection or rupture is exceedingly rare in this population. MFS = FBN1-related Marfan syndrome Many of the features of Marfan syndrome are not recognized in infancy/childhood or develop later in life. However, in severe cases, some of these features may be present in infancy and/or childhood. 2.

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Wrist AND thumb sign

3

—

Wrist OR thumb sign

1

—

Pectus carinatum deformity

2

—

Pectus excavatum or chest asymmetry

1

—

Hindfoot deformity

2

—

Plain flat foot (pes planus)

1

—

Pneumothorax

2

—

Dural ectasia

2

—

Protrusio acetabulae

2

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Reduced upper segment to lower segment AND increased arm span to height ratios

1

—

Scoliosis or thoracolumbar kyphosis

1

—

Reduced elbow extension

1

—

3 of 5 facial features

1

—

Skin striae

1

—

Myopia

1

—

Mitral valve prolapse

1

Total A systemic score calculator and a complete description of each component evaluation can be found at the Marfan Foundation website. Family history is consistent with autosomal dominant inheritance (e.g., affected males and females in multiple generations).

Constitutional

Measurement of length/height

To assess for tall stature growth1

Eyes

Ophthalmologic eval, ideally by ophthalmologist w/expertise in MFS

To incl:; Slit lamp exam through maximally dilated pupil for evidence of lens subluxation; Refraction, esp in young children at risk for amblyopia; Assessment for glaucoma cataract

Musculoskeletal

Clinical assessment for skeletal manifestations that may require immediate attn of an orthopedist (e.g., severe scoliosis)

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Dental

Assessment by dentist

For dental crowding palatal issues

Cardiovascular

Echocardiography2

Esp aortic root measurements, which must be based on consideration of normal values for age body size; click here for a calculator.

Neurologic

Consider spinal MRI to assess for dural ectasia.

In those w/low back pain, proximal leg pain, weakness numbness above knee genital/rectal pain

Skin

Clinical assessment for hernias

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Respiratory

Consider chest radiograph to assess for pneumothorax.

In those w/pain in chest, dyspnea, chest tightness, /or cyanosis Genetic

counseling

By genetics professionals3

To inform affected persons their families re nature, MOI, implications of MFS to facilitate medical personal decision making Family support resources

Treatment of Manifestations in Individuals with FBN1-Related Marfan Syndrome Manifestation/Concern

Treatment

Considerations/Other

Tall stature

Use of hormone supplementation to limit adult height is rarely requested or considered.1

This treatment should only be considered when an extreme height is anticipated.

Refractive errors

Standard treatment per ophthalmologist

Spectacle correction is often adequate.; Prompt aggressive assessment correction of refractive error is mandatory in young children at risk for amblyopia.

Lens dislocation

May require surgical aphakia (removal of lens) if lens is freely mobile or margin of lens obstructs vision

An intraocular lens can be implanted after puberty (i.e., once growth is complete).; While intraocular lens implants are currently considered quite safe when performed in specialized centers, major complications incl retinal detachment can occur. Glaucoma/ Cataracts/

Retinal detachment

Standard treatment per ophthalmologist

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Severe /or progressive scoliosis

Bracing or surgical stabilization of spine may be required.

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Pectus deformity

Standard treatment per orthopedist or general surgeon

In very rare circumstances, surgical intervention is indicated for medical (rather than cosmetic) reasons.

Protusio acetabulae

Functional deficits or pain may respond to PT, analgesics, or anti-inflammatory medications.

Surgical intervention is rarely indicated. Pes planus