Marfan Syndrome Living With
If you have been diagnosed with Marfan syndrome, it is important to know how to manage your disease, what other health problems or complications you may have as a result of this condition, when to seek medical help, and how to plan ahead if you are thinking of becoming pregnant.
How can you manage Marfan syndrome?
You can help manage Marfan syndrome by following your healthcare provider’s recommendations and getting regular dental checkups.
- Ask your healthcare provider how often to schedule follow-up visits.
- Continue any medicines as prescribed, including those to control other medical conditions such as high blood cholesterol and high blood pressure.
- Get regular dental check-ups. People who have Marfan syndrome often have teeth, gum, or jaw problems that require regular care. If your teeth are crowded, you might need braces or more regular cleaning visits to reduce gum swelling and the risk of an infection of the inner lining of your heart chambers and valves — the endocardium. You will likely need to take antibiotics before dental procedures to help prevent infection.
- Follow your provider’s recommendations for a healthy lifestyle, such as eating heart-healthy foods, being physically active, quitting smoking, managing stress, and aiming for a healthy weight.
- Tell your provider if your medicines are causing side effects.
How will your provider monitor your condition?
Your provider may recommend tests to monitor your condition.
- Annual checkups with a bone specialist or orthopedist can monitor any changes in your spine and breastbone.
- Regular eye exams with an eye specialist or ophthalmologist find and treat eye problems early.
- Regular imaging tests check for problems with your heart valves and measure your aorta.
People who have Marfan syndrome may need more than one heart or blood vessel surgery over time.
How may Marfan syndrome affect your health?
Marfan syndrome most commonly affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and spinal cord. However, the condition can affect many parts of the body.
The most serious problems occur in the heart and .
- An aortic aneurysm can happen when the aorta weakens and widens. Often this occurs at the place where the aorta connects with the heart. Aortic aneurysms are at risk of dissection, which happens when the inner layer of the aortic wall tears and blood pools between the layers of the wall.
- Heart valve problems, especially problems with the aortic valve and the mitral valve, cause your heart to work harder, which may lead to heart failure.
- An arrhythmia (irregular heartbeat) can result from heart valve diseases or other heart problems caused by Marfan syndrome.
Other problems may develop when you have Marfan syndrome.
- Dental problems may include gum issues or a jawbone that becomes unhinged from the skull.
- Dural ectasia can occur when the connective tissue that wraps around and protects your spinal cord and brain stretches and weakens. This can happen as people who have Marfan syndrome grow older. It can lead to lower back or stomach area pain, headache, and numbness in the legs.
- Eye problems, such as a retina detaching, can affect your eyesight. Other eye problems include not being able to see objects clearly unless they are close to you, cloudiness in the eye (cataracts), and high pressure in the eye (glaucoma).
- Lung problems, such as pneumothorax, can cause the lung to collapse. People who have Marfan syndrome may also have problems breathing if a curved spine (scoliosis) or sunken chest prevents the lungs from expanding fully. Occasionally, lung conditions such as bronchiectasis or interstitial lung disease can develop.
- Sleep apnea, which can disrupt breathing during sleep, can develop due to the shape of the face, oral cavity, or teeth.
When should you seek emergency medical care?
If you have Marfan syndrome, you are at risk for a life-threatening problem in an important blood vessel in your chest called the .
If your aorta is weaker or larger than normal, it is important to know symptoms of a , or rupture. These may include:
- Sudden, severe pain in your stomach area, chest, or back that travels upward or downward
- Pale skin
- Rapid heart rate or palpitations
If you have these symptoms, call 9-1-1.
You can also take steps to prepare for an emergency.
- Carry an emergency alert card. This card lists important information about your health. It can help medical personnel and others care for you during an emergency.
- Tell the people you see regularly, such as family, friends, or coworkers, that you are at risk for a serious heart problem called an aortic dissection. Describe the symptoms of this condition and tell them to call 9-1-1 if you have these symptoms.
How can you prevent or reduce problems over your lifetime?
Your provider may recommend you avoid certain medicines and activities.
- Certain physical activities, such as contact sports, intense physical activity, and weightlifting, can put strain on the heart or joints or make it more likely for your eye lens to move out of place. Your provider can suggest ways to get exercise while reducing the risk of problems.
- Certain medicines, such as headache medicines, narrow your blood vessels. Decongestant cold medicines can increase blood pressure and put stress on your blood vessels.
- Breathing against resistance, such as when playing a brass instrument, or positive pressure ventilation, such as when SCUBA diving, may need to be avoided if you are at risk of pneumothorax.
- Illegal drugs, such as cocaine or amphetamines, can strain your heart. If you use illegal or street drugs, ask your provider how to get help to stop. You can also call the Substance Abuse and Mental Health Services Administration’s (SAMHSA) National Helpline at 1-800-662-HELP.
What can you do to take care of your mental health?
Living with Marfan syndrome may cause fear, anxiety, depression, and stress. Share how you feel with your healthcare provider, who may offer some of the following recommendations to help you.
- Talk to a professional counselor. If you are depressed, your provider may also suggest medicines or other treatments that can improve your quality of life.
- Join a patient support group. You can see how other patients manage similar symptoms and conditions. Your provider can help you find local support groups, or you can check with an area medical center.
- Seek support from family and friends, which can help relieve stress and anxiety. Let your loved ones know how you feel and what they can do to help you.
Is it safe to become pregnant if you have Marfan syndrome?
Many women who have Marfan syndrome have safe and healthy pregnancies and deliveries. However, there are some added risks during pregnancy and delivery. The most serious risk is aortic dissection due to extra strain on the heart. If you have Marfan syndrome and have already experienced aortic dissection, it is not safe for you to become pregnant.
If you are thinking about getting pregnant, talk with an obstetrician, a doctor who cares for pregnant women. Make sure your doctor is familiar with your condition and has experience with high-risk pregnancies. Your provider might recommend that you have surgery to fix your aorta before you try to get pregnant. Your provider will also make sure that your medicines are safe to take during pregnancy.