Marfan Syndrome
- Heritable genetic defect of connective tissue
- Autosomal dominant mode of transmission
- Boys and girls are equally affected
Major Criteria
Skeletal System
- Pectus carinatum (pigeon breast)
- Pectus excavatum (funnel chest)
- Wrist sign (overlapping of the thumb and 5th finger when encircling the wrist)
- Scoliosis > 20%
- Reduced extension of the elbow (< 170%)
- Protrusio acetabuli (inward bulging of acetabulum)
Ocular System
- Ectopia lentis (upward displacement of the lens or dislocated lens)
CardiovascularZ
- Dilatation of the ascending aorta
- Dissection of the ascending aorta
Dura
- Lumbosacral dural ectasia (dilatation)
Minor Criteria
Skeletal
- High arched palate
- Moderate pectus excavatum
- Joint hypermobility
Cardiovascular
- Mitral valve prolapse
Pulmonary
- Dilatation of the main pulmonary artery
- Spontaneous pneumothorax
- Apical blebs
Skin
- Striae atrophicae
- Recurrent incisional hernias
Monitoring
- Annual echocardiogram
Most Common Cause of Death
- Cardiovascular complications
- Rupture aortic root dilatation
