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.
Symptoms of this disorder may show up in infancy and early childhood, or later in life. Some symptoms may worsen with age.
This disorder shows itself differently in different people. The visible symptoms occur in your bones and joints. Visible symptoms may include:
- unusually tall height
- long limbs
- large, flat feet
- loose joints
- long, thin fingers
- a curved spine
- a chest bone (sternum) that sticks out or caves inward
- crowded teeth (caused by an arch in the roof of the mouth)
Heart and Blood:
The more invisible symptoms occur in your heart and blood. Your aorta, the large blood vessel that transports blood from your heart, may become enlarged. An enlarged aorta may cause no symptoms. However, it carries the risk of a life-threatening rupture. Seek medical assistance immediately if you’re having chest pains, breathing problems, or an uncontrollable cough.
People with Marfan’s syndrome often have eye problems. About one in six people with this condition have “partial lens dislocation” in one or both of their eyes. Becoming severely nearsighted is also common. Many people with this condition need eyeglasses or lenses to correct vision problems. Finally, early-onset cataracts and glaucoma are also much more common in people with Marfan’s syndrome, compared to the general population.
Marfan’s syndrome is a genetic or inherited disorder. The genetic defect occurs in a protein called fibrillin-1, which plays a large role in the formation of your connective tissue. The defect also causes overgrowth in bones, resulting in long limbs and significant height.
There’s a 50 percent chance that if one parent has this disorder, their child will also have it (autosomal dominant transmission). However, a spontaneous genetic defect in their sperm or egg can also cause a parent without Marfan’s syndrome to have a child with this disorder. This spontaneous genetic defect is the cause of about 25 percent of cases of Marfan’s syndrome. In the other 75 percent of cases, people have inherited the disorder.
Your doctor will typically begin the diagnostic process by reviewing your family history and conducting a physical exam. They can’t detect the disease through genetic testing alone. A complete evaluation is necessary. It typically includes an examination of your skeletal system, heart, and eyes.
Typical exams include:
- an echocardiogram, which is used to examine your aorta for enlargement, tears, or aneurysms (bubble-like swelling due to weakness in the walls of the artery)
- an electrocardiogram (EKG), which is used to check your heart rate and rhythm
- a magnetic resonance imaging (MRI) test, which is performed in some people to look for lower back problems
- an eye exam, which allows your doctor to examine the overall health of your eyes, to test how acute your sight is, and to screen for cataracts and glaucoma.
Marfan’s syndrome can’t be cured. Treatments typically focus on lessening the impact of various symptoms.
Your aorta becomes larger in this condition, increasing your risk for many heart problems. It’s essential that you regularly consult with a heart specialist. If problems exist with your heart valve, medications such as beta-blockers (which reduce blood pressure) or replacement surgery may be necessary.
Bones and Joints:
Annual checkups help to detect spine or breastbone changes. They are especially important for fast-growing adolescents. Your doctor may prescribe an orthopedic brace or recommend surgery, especially if rapid growth of your skeletal system is causing problems for your heart or lungs.
Regular eye exams help to detect and correct vision problems. Your eye doctor may recommend eyeglasses, contact lenses, or surgery, depending on your condition.
You are more at risk of developing lung problems if you have this disorder. This is why it’s important not to smoke. If you have breathing problems, sudden chest pain, or a persistent dry cough, call your doctor immediately.
Given the many different possible complications related to the heart, spine, and lungs, people with Marfan’s syndrome run the risk of a shorter lifespan. However, regular visits to your doctor and effective treatments can help you survive into your 70s and beyond.
Check with your doctor before engaging in strenuous sports and physical activities. Skeletal system, vision, and heart issues may make it dangerous to participate in sports like football and other contact sports. Lifting heavy objects can also cause problems and should be avoided.
You can undergo genetic counseling before having children if you have Marfan’s syndrome. However, about one-quarter of Marfan’s cases result from spontaneous gene defects, making it impossible to predict and prevent the disease entirely. To prevent potential pregnancy complications that result from the disease, seek medical attention and have regular checkups.