Marfan's Syndrome

Aka: Marfan's Syndrome, Marfan Syndrome, Arachnodactyly

1. Epidemiology
   1. Autosomal Dominant with variable expression
   2. Sporadic (non-hereditary) account for 15-33% of cases
   3. Prevalence: 1 in 10,000 (in United States)
2. Etiology
   1. Defect in gene coding for fibrillin structure
   2. Connective tissue defect affecting multiple systems
      1. Musculoskeletal disease
      2. Ocular disease
      3. Cardiac disease
3. Signs
   1. Body habitus
      1. Tall (Height exceeds 95th percentile for age)
      2. Extremely slender build
   2. Cardiovascular signs and conditions
      1. Mitral Valve Prolapse
      2. Aortic root dilatation
      3. Myocardial Infarction
      4. Aortic Insufficiency
      5. Congestive Heart Failure
      6. Subacute Bacterial Endocarditis
      7. Aortic Dissection
   3. Musculoskeletal signs and conditions
      1. Arachnodactyly (Spider fingers)
      2. Pectus deformity (Pigeon Breast or Funnel Breast)
      3. High narrow Palate
      4. Arm Span exceeds height
      5. Leg length exceeds trunk length
      6. Hyperextensible joints and ligaments
      7. Pes planus
      8. Hammer toes
      9. Vertebral Column deformities (e.g. Kyphoscoliosis)
      10. Inguinal Hernia
      11. Striae Distensae
   4. Ocular signs and conditions
      1. Upward ectopia lentis
      2. Myopia
      3. Iridodonesis
      4. Glaucoma
      5. Retinal Detachment
4. Labs
   1. Homocystinuria
5. Radiology
   1. Echocardiogram
      1. Enlarged aortic root
   2. Chest XRay
      1. Deformed aorta and pulmonary artery