Marfan syndrome: Overview
Marfan syndrome causes problems with connective tissues. These tissues include skin, muscles, blood vessels, ligaments, bones, and tendons. They join parts of the body and help hold the body together. Marfan syndrome is caused by a flaw in a gene that helps make connective tissue. The condition is often passed down in families. If someone in the family has Marfan syndrome, their close relatives may need to be examined by a doctor who is familiar with it.
Marfan syndrome may cause heart or aorta problems, a curved spine, vision trouble, and pain if the nerves are affected. Some people may have mild problems, while others have more serious symptoms. Most people with Marfan syndrome tend to be tall and thin with long arms, legs, fingers, and toes. They usually have loose joints.
Heart and blood vessel problems are among the most serious effects of Marfan syndrome. The heart's valves may leak. Part of the aorta may become weak and stretch, forming an aneurysm. The aorta carries blood to the upper and lower body. An aneurysm may cause the aorta to tear. A torn aorta is the most common cause of death in people with Marfan syndrome.
Doctors usually can treat the problems caused by Marfan syndrome. For example, you may take medicine to lower your heart rate and blood pressure, which reduces stress on the aorta. Meeting with a genetic doctor or counselor can help you learn more about Marfan syndrome and what it means to your family.
Marfan syndrome
Marfan syndrome is an inherited disorder that causes problems in the connective tissues of the blood vessels, heart, and eyes, and affects the muscles, ligaments, bones, and tendons. People with Marfan syndrome tend to be tall and thin with long arms, legs, fingers, and toes.
Marfan syndrome may cause heart or aorta problems, a curved spine, vision trouble, and pain if the nerves are affected. Some people may have mild problems. But others have more serious symptoms.
Treatment for Marfan syndrome includes treating specific problems related to the connective tissue disease, such as heart problems.
How can you care for Marfan syndrome?
- Take your medicines exactly as prescribed. Call your doctor if you think you are having a problem with your medicine.
- Do not smoke. People with Marfan syndrome are already at risk for heart and lung problems. If you need help quitting, talk to your doctor about stop-smoking programs and medicines. These can increase your chances of quitting for good.
- Talk to your doctor before starting an exercise program or playing team sports. Contact sports can be dangerous because your blood vessels and joints are weaker than normal.
- Wear a medical alert bracelet which says that you have Marfan syndrome. You can buy this at most drugstores.
- Write or type a list of any conditions you have that are related to Marfan syndrome. Also include a list of medicines you take. Keep these lists in several places, including with you in case of an emergency.
Marfan syndrome: When to call
Call 911 anytime you think you may need emergency care. For example, call if:
- You have severe chest, belly, or back pain.
- You passed out (lost consciousness).
- You have symptoms of a heart attack. These may include:
- Chest pain or pressure, or a strange feeling in the chest.
- Sweating.
- Shortness of breath.
- Nausea or vomiting.
- Pain, pressure, or a strange feeling in the back, neck, jaw, or upper belly or in one or both shoulders or arms.
- Lightheadedness or sudden weakness.
- A fast or irregular heartbeat.
Call your doctor now or seek immediate medical care if:
- You have upper back or belly pain.
- You are coughing or wheezing.
- You have a hoarse voice.
- You have a pulsing feeling in your belly or back.
Watch closely for changes in your health, and be sure to contact your doctor if:
- You have questions about Marfan syndrome.
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