Table 9.

Recommended Surveillance for Individuals with FNB1-Related Marfan Syndrome

System/ConcernEvaluationFrequency
Constitutional Measurement of length/height/weight 1At each visit
Eyes Ophthalmologic exam incl specific assessment for glaucoma & cataractsAt least annually, or as clinically indicated
Musculoskeletal Clinical assessment for chest wall deformities & scoliosis 2At each visit until skeletal maturity; severe scoliosis may require ongoing surveillance in adulthood.
Dental Dental eval (incl orthodontia, as indicated)At least annually after eruption of teeth
Cardiovascular 3 Echocardiography
  • Annually when aortic dimension is relatively small & rate of aortic dilatation is relatively slow
  • More often than annually when aortic root diameter > ~4.5 cm in adults, rate of aortic dilatation > ~0.3 cm/yr, or if there is significant aortic regurgitation
  • Other indications for more frequent echocardiographic imaging incl significant or progressive valve dysfunction or left ventricular enlargement or dysfunction.
CT or MRA scans of entire aortaIntermittently starting in young adulthood & at least annually in anyone w/history of aortic root replacement or dissection
1.

A subset of children with severe Marfan syndrome can show evidence of severe malnutrition that may require intervention by a nutritionist or gastroenterologist.

2.

Radiographs and referral to an orthopedist may be indicated in those with moderate-to-severe features.

3.

More frequent evaluations by a cardiologist are indicated with severe or progressive valve or ventricular dysfunction or with documented or suspected arrhythmia.

From: FBN1-Related Marfan Syndrome

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