Marfan syndrome is a disease that affects the connective tissue. Connective tissue is found throughout your body. It provides strength and support for your body. It also provides strength and the ability to stretch to your blood vessels. When you have Marfan syndrome, your connective tissue is not as strong as it should be. Marfan syndrome can affect the bones, skin, nervous system, eyes, and the heart and blood vessels.
Marfan syndrome is a lifelong disorder.
What is the cause?
Marfan syndrome is inherited. It is caused by a problem in the gene that makes a protein your body needs for strong and stretchy connective tissue. Genes contain the information that tells your body how to develop and work. Changes in the genes can be passed from parents to children. People with Marfan syndrome may pass the defective gene to their children.
Marfan syndrome is present at birth. However, the condition may not be diagnosed until young adulthood.
What are the symptoms?
Symptoms may include:
A tall, thin body with long arms, legs, and fingers and a thin, narrow face
A chest that sinks in or sticks out
A small lower jaw and crowded teeth
Decreased muscle tone and muscle weakness
Joints that are too flexible and may pull apart easily
A curved spine
A learning disability
Most people with Marfan syndrome have problems with their heart and blood vessels. Your heart valves, especially the mitral valve, can become floppy and may not close tightly. This allows blood to leak backwards across the valve (a problem called mitral valve prolapse). Mitral valve prolapse increases the workload on the heart and may cause shortness of breath, tiredness, or palpitations (fluttering in the chest). The aortic valve may stretch and leak. You may develop an abnormal heart rhythm. Over time, the heart muscle may enlarge and weaken. It can progress to heart failure.
The walls of the blood vessels, especially the aorta (the artery that carries blood from the heart to the rest of the body) become weak and stretch too much.
How is it diagnosed?
Your healthcare provider will ask about your symptoms and medical history and examine you. Tests may include:
CT scan, which uses X-rays and a computer to show detailed pictures of the body
MRI, which uses a strong magnetic field and radio waves to show detailed pictures of the body
An echocardiogram, which uses sound waves (ultrasound) to see how well your heart muscle is pumping
An ECG (also called an EKG or electrocardiogram), which measures and records your heartbeat
How is it treated?
Treatment depends on which connective tissues are affected and how severe the problems are. Medicines may be prescribed to prevent or control heart, eye, and other problems. You may need surgery to treat problems with the eyes, heart, joints, or spine.
How can I take care of myself?
Follow the full course of treatment prescribed by your healthcare provider.
A healthy lifestyle may help:
Eat a healthy diet. Ask your provider about the benefits of talking to a dietician to learn what you need in a healthy diet.
Try to keep a healthy weight. If you are overweight, lose weight.
Stay fit with the right kind of exercise for you.
Learn to manage stress. Ask for help at home and work when the load is too great to handle. Find ways to relax, for example take up a hobby, listen to music, watch movies, or take walks. Try deep breathing exercises when you feel stressed.
If you smoke, try to quit. Talk to your healthcare provider about ways to quit smoking.
If you want to drink alcohol, ask your healthcare provider how much is safe for you to drink.
Tell all healthcare providers who treat you that you have Marfan syndrome.
Ask your provider:
How and when you will hear your test results
If there are activities you should avoid and when you can return to your normal activities
How to take care of yourself at home
What symptoms or problems you should watch for and what to do if you have them
If you should take antibiotics before you have dental work or procedures that involve the rectum, bladder, or vagina. Damaged valves are more likely to become infected by bacteria. Infection of the valve can damage it more and may destroy it. Antibiotics can prevent this.
Make sure you know when you should come back for a checkup.
Developed by RelayHealth.
Adult Advisor 2015.1 published by RelayHealth. Last modified: 2014-05-29 Last reviewed: 2014-09-30
This content is reviewed periodically and is subject to change as new health information becomes available. The information is intended to inform and educate and is not a replacement for medical evaluation, advice, diagnosis or treatment by a healthcare professional.
Hiratzka, LF, Bakris, GL, Beckman, JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010; 121:e266.
Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476.