Marfan Syndrome

Causes

• Caused by a mutation in the FBN1 gene on chromosome 15



• Inherited in families-autosomal dominant

Symptoms

• Vaired among people



• Can range from mild to severe



• Weak connective tissues in the heart, skeleton, eyes, and other organs



• Aorta may be larger



• Spine may be curved



• Eye lense might become dislocated



• Loose joints



• Chest bone may bend in or out



• Bone overgrowth-long, thin arms and legs

Diagnosis

1. Dilatated or dissected aorta



2. Dislocated eye lense



3. Lumbosacral dural ectasia- CT scan or MRI



4. At least four skeletal features of the disease
   


5. Close relative has the disease

Treatments

• Eyeglasses



• Artificial eye lense-surgery



• Arch supports/Orthotics



• Surgery for skeletal problems



• Medication to decrease stress on the aorta



• Surgery to repair the aorta



• Blood pressure medication



• Avoid competitive sports, isometric and statis exercise, certain medications, and caffeine

Prevalence

• Both sexes



• All ethnicities



• Rare-about 1 in 10,000

Life Expectancy

• Early to mid 70s if treated



• In the 40s if not treated