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Marfan's Syndrome Diagnostic Criteria
No Family History -- Major criteria in 2 different systems, and involvement of a third organ system
With FH or genetic testing -- 1 major criterion and involvement of a second organ system
Organ System Major Criteria Minor Criteria
Skeletal Pectus carinatum Moderate Pectus excavatum
  Pectus excavatum+Surg Joint hypermobility
  Arm/Height>1.05 Arched palate with tooth crowding
  Wrist/thumb sign Facial dysmorphia
  Scoliosis>20° or spondylolisthesis  
  Reduced elbow extension (<170°)  
  Medial displacement malleolus with pes planus  
  Protrusio acetabulae  
    2 major criteria or
1 major and 2 minor
Ocular Ectopia lentis Flat cornea
    Increased axial length of globe
    Hypoplastic iris or ciliary muscle
    2 minor criteria
Cardiovascular Ascending aorta dilatation MVP
  Ascending aorta dissection PA artery dilatation < age 40
    Calcified mitral annulus < age 40
    Thoracic or Abd aorta dilatation < age 50
    1 major or 1 minor
Pulmonary   Spontaneous PTX
    Apical blebs
    1 minor criterion
Skin   Striae atrophicae
    Incisional herniae
    1 minor criterion
Dura Lumbosacral dural ectasia (CT or MRI)  
    1 major criterion
Family/Genetic Parent, child, sibling with Marfan's  
  FBN-1 mutation  
  Haplotype around FBN-1  
    1 major criterion
Reference: AHA Medical Scientific Statement on
Genetically Transmitted Cardiovascular Disease
 (www.AmericanHeart.org)