Marfans Syndrome

 <Presentations>

<Index>

 

Features

-  Autosomal dominant connective tissue disease

 

Associated S/S

-  Skeletal

-  Tall & thin stature

-  Dolichostenomelia (disproportionately long limbs) + arachnodactyly

-  Ligament laxity: hips, knees, ankles, wrist, arches, fingers

-  Pectus excavatum/carinatum

-  High arched palatte

-  Ectopia lentis (lens subluxation) 80% pts

 

Ectopia Lentis

 

-  Cardiac

-  Mitral valve prolapse

-  Aortic root dilation

-  Aortic regurgitation

-  Aortic dissection

-  Dysrhythmia

-  Neural

-  Dural ectasia

 

Dx

-  Prenatal

-  Ghent Criteria

-  Family Hx: 1o releative w Dx, known FBN1 mutation

 

Ix

-  

 

Mx

-  

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