Marfan syndrome
DEFINITION
Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.
People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels are affected, the condition can become life-threatening.
Treatment usually includes medications to keep your blood pressure low to reduce the strain on weakened blood vessels. Depending on the severity of your symptoms and the part of your body that’s affected, surgery may be necessary.
CAUSES
Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.
Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25 percent of the people who have Marfan syndrome, the abnormal gene doesn’t come from either parent. In these cases, a new mutation develops spontaneously.
SYMPTOMS
The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age.
Marfan syndrome features may include:
- Tall and slender build
- Disproportionately long arms, legs, fingers and toes
- A breastbone that protrudes outward or dips inward
- A high, arched palate and crowded teeth
- Heart murmurs
- Extreme nearsightedness
- An abnormally curved spine
- Flat feet
When to see a doctor
If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. If your doctor suspects a problem, you’ll likely be referred to a specialist for further evaluation.
