Marfan syndrome is a rare disorder that causes the connective tissue in the body to be weaker than it should be.
Marfan syndrome is a rare disorder that causes the connective tissue in the body to be weaker than it should be. Connective tissue is the material that holds together many structures in your body, such as tendons, ligaments, cartilage, blood vessels, heart valves, and more. Because the connective tissue is weaker in Marfan patients, it affects how the heart and blood vessels, eyes, and skeleton are formed and how they work.
What causes Marfan syndrome?
Marfan syndrome is thought to be an inherited disease that is caused by a defect in a gene. About 50,000 people in the United States are diagnosed with the condition each year. Marfan can affect both men and women. Because the gene defect can be passed down to children, Marfan patients should talk to their doctor and a genetic counselor before having children.
What are the risks to the heart and blood vessels?
The defect in the gene that causes Marfan syndrome controls the production of a special protein found in the connective tissue. This protein is called fibrillin. Without enough fibrillin, the walls of the major arteries are weakened. If the aorta (the main blood supplier to the body) is affected, it gets bigger (or dilates), making it weaker. The weakened area of the aorta can bulge outward, creating an aortic aneurysm. Or, the aorta can tear, and blood can leak through these tears and between the tissue of the aortic wall. This is called aortic dissection.
If the aorta is stretched and weakened, this can also affect the aortic valve. In some patients, blood leaks backward through the valve instead of moving in the proper one-way, forward flow. This is called regurgitation. If too much blood flows backward, only a small amount can travel forward to your body’s organs. Your heart tries to make up for this by working harder, but with time your heart will become enlarged (dilated) and less able to pump blood through the body.
Some people with Marfan syndrome also have mitral valve prolapse (MVP).
Other heart problems that can affect people with Marfan syndrome include a higher risk of heart attack, an abnormal heart rhythm (called arrhythmia), and sudden cardiac death.
What are the signs and symptoms?
The signs and symptoms of Marfan syndrome develop over time. Only about 40% to 60% of patients with Marfan syndrome have symptoms, usually mitral valve prolapse or problems with the aorta.
Other signs of Marfan syndrome may include
- A tall and thin body frame, long and slender fingers, and long arms and legs.
- A curved spine (called scoliosis).
- Chest-wall deformities, such as a breast bone (sternum) that is caved in (indented) or sticking out (protruding). If the breast bone is indented, it may also be very narrow.
- Eye or vision problems, such as nearsightedness or a detached retina.
- Disproportionate growth, meaning people with Marfan syndrome are usually very tall.
- Flat feet.
- Loose joints (called joint laxity) or being double jointed.
- Shortened muscles, tendons, and ligaments (called contracture).
How is Marfan syndrome diagnosed?
The signs and symptoms of Marfan syndrome vary with each patient. Here are some of the tests your doctor may perform:
- A physical examination and a family history.
- Using a stethoscope, the doctor will listen to your heart to detect any abnormal heart sounds.
- Echocardiography can be used to see valve function, heart wall motion, and overall heart size.
- Computed tomography (CT or CAT scan) reveals cross-sectional images of the body, in particular the aorta.
- Magnetic resonance imaging (MRI) gives doctors a detailed picture of the heart and the aorta.
How is Marfan syndrome treated?
Patients with Marfan syndrome need to visit their doctor regularly for tests such as chest X-rays and an echocardiogram to monitor the heart and how it is working.
Because Marfan syndrome affects people in different ways, treatment varies. Some patients may not need any treatment at all. Some may need to take beta-blockers to lower heart rate and blood pressure. For others, surgery may be needed to repair problems in the aorta or with the aortic or mitral valves.
If you have Marfan syndrome, talk to your doctor about taking antibiotic medicine before dental procedures or general surgery to prevent bacteria from entering the bloodstream and causing an infection in the heart valves.
Patients may also need to avoid strenuous exercise or contact sports. Women should talk to their doctor and a genetic counselor before becoming pregnant.
Many patients with Marfan syndrome live late into their 60s and beyond by learning to manage their condition and seeing a doctor regularly.
In the news …
Learning to Defuse the Aorta
Helping kids with Marfan syndrome; detecting and treating enlarged aortas When Dr. Hal Dietz arrived at Johns Hopkins University in the 1980s, he became obsessed with helping children with Marfan syndrome, a rare and often fatal disorder that can cause the aorta, the large blood vessel that carries blood from the heart, to grow and grow until it bursts…. That journey has led to surprising discoveries about Marfan’s causes and a clinical trial of a drug that may help its sufferers.
Patients whose aortas are breaking apart “all need immediate treatment,” said Dr. Scott A. LeMaire, a professor of surgery and of molecular physiology and biophysics at the Baylor College of Medicine [and a member of the Texas Heart Institute professional staff].
— New York Times Science.