What is Marfan syndrome?
Marfan syndrome (also called Marfan’s syndrome or Marfans syndrome) is a condition that affects your connective tissue. Connective tissue holds your body together and provides support to many structures throughout your body.
In Marfan syndrome, the connective tissue isn’t normal. As a result, several body systems are affected, including your heart and blood vessels, bones, tendons, cartilage, eyes, skin and lungs.
Who does Marfan syndrome affect?
Marfan syndrome is fairly common, affecting 1 in 10,000 to 20,000 people. It has been found in people of all races and ethnic backgrounds.
Symptoms and Causes
What causes Marfan syndrome?
When you have Marfan syndrome, there is a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.
In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50% chance of passing along the disorder to each of their children.
In 25% of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder because not everyone with Marfan syndrome has the same symptoms and the symptoms may be worse in some people than others.
Marfan syndrome is present at birth. However, you may not be diagnosed until you’re a teen or young adult.
What are the symptoms of Marfan syndrome?
Sometimes Marfan syndrome is so mild, that few if any, symptoms are noticeable right away. In most cases, symptoms become evident as changes in connective tissue happen as you age.
Because Marfan syndrome affects your connective tissue, it can affect your entire body including your skeletal system, heart and blood vessels, eyes, skin and organs.
Physical features include:
- A long, narrow face.
- Tall and thin body build.
- Arms, legs, fingers and toes that may seem too long for the rest of your body.
- Curved spine. Scoliosis affects 60% of people with Marfan syndrome.
- Breastbone (sternum) that may either stick out or be indented.
- Joints that are weak and easily become dislocated.
- Flat feet.
Dental problems include:
- Crowded teeth.
- Narrow, higher than normal arched palate (roof of the mouth).
More than half of all people with Marfan syndrome have eye problems. These include:
- Nearsightedness (blurring of objects far away).
- Lens subluxation (the lens of the eye moves away from its typical position).
- A difference in the shape of the eye.
- Retinal detachment.
Heart and blood vessel problems
About 90% of people with Marfan syndrome develop changes in their heart and blood vessels. Changes that can develop include:
- Aortic aneurysm. The walls of the aorta, the major artery that carries blood from the heart to the rest of your body, become weak, bulge out and could rupture (burst). This happens most commonly at the aortic root (the point where the aortic artery leaves the heart).
- Aortic dissection. This is a tear in the inner layer of the three wall layers of the aorta. The tear allows blood to enter the middle layer, which extends the tear and leads to a further separation and possibly wall rupture. This can be fatal.
- Heart valve problems. Marfan syndrome can cause valve tissue to become weak and stretch. This leads to valves that don’t close tightly, causing leaks and backflow of blood. The heart often has to work harder when valves aren’t working properly. The mitral valve is commonly affected.
- Enlarged heart. The heart muscle may enlarge and weaken over time, causing cardiomyopathy, even if the heart valves are not leaking. The condition may progress to heart failure.
- Abnormal heart rhythm. Arrhythmia can occur in some people with Marfan syndrome. It’s often related to mitral valve prolapse.
- Brain aneurysms. People with Marfan may have a history of intracranial (inside the skull) bleeding from a ruptured brain aneurysm.
The changes in lung tissue that occur with Marfan syndrome increase the risk for:
- Chronic obstructive pulmonary disease (COPD).
- Collapsed lung (pneumothorax).
Skin can become less stretchy, causing stretch marks to occur, even without changes in weight.
Diagnosis and Tests
How is Marfan syndrome diagnosed?
Because Marfan syndrome can affect tissue all over your body, a team of healthcare providers may be involved in confirming the diagnosis and developing a treatment plan.
First, they’ll take your medical history, conduct a physical exam to look for typical signs or findings associated with Marfan, ask questions about the symptoms you’re experiencing, and gather information about family members who may have had health problems related to Marfan syndrome.
Tests to evaluate changes in the heart, blood vessels and heart rhythm problems may include:
- Chest X-ray to look at your heart’s border.
- Electrocardiogram (ECG) to check heart rate and rhythm.
- Echocardiogram to check for heart valve problems, examine your heart for ventricular dilation or thickening, and examine your aorta for enlargement, dissections (tears) or aneurysms.
If your healthcare provider can’t see sections of the aorta through an echocardiogram, or they think a dissection may have already happened, you may need more testing.
Often a CT or MRI is also needed to check for dural ectasia. Dural ectasia is a bulging of the lining of the spinal column. It often does not cause any symptoms, but it can be associated with back pain in some people. Dural ectasia helps support the diagnosis of Marfan syndrome, but it can also occur with other connective tissue disorders.
A blood test can help diagnose Marfan syndrome. This genetic test looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome.
A genetic counselor should review your genetic testing because FBN1 test results are not always obvious. Blood tests also can be used to help diagnose other genetic mutations, such as Loeys-Dietz syndrome, that cause physical findings similar to Marfan syndrome.
Management and Treatment
How is Marfan syndrome treated?
If you have Marfan syndrome, you will need a treatment plan that is specific to your health issues. Some people may not need any treatment — just regular follow-up appointments with their healthcare provider. Others may need medications or surgery. The approach depends on which body parts are affected and the severity of your condition.
Medications are not used to treat Marfan syndrome, but they may be used to prevent or control complications. Medications may include:
- Beta-blockers: Beta-blockers improve your heart’s ability to relax, and decrease the forcefulness of the heartbeat and the pressure within the arteries. This prevents or slows down the enlargement of the aorta. Beta-blocker therapy should begin at an early age. If you can’t take beta-blockers because of asthma or side effects, your provider can prescribe a calcium channel blocker.
- Angiotensin receptor blockers: Angiotensin receptor blockers (ARB) are used to treat high blood pressure and heart failure. Recent clinical trials have shown that ARBs help slow the enlargement of the aorta as well as beta-blockers do.
The goal of surgery for Marfan syndrome is to prevent the aorta from dissecting or rupturing and to treat valve problems.
Decisions about surgery are based on:
- Size of your aorta.
- Expected normal size of the aorta.
- Rate of aortic growth.
- Your age, height and sex.
- Family history of aortic dissection.
Two surgical techniques can be used to replace the enlarged area of the aorta with a graft:
- Traditional method: The aorta is replaced with a graft and the aortic valve is replaced with a mechanical valve.
- Valve-sparing modified reimplantation method: The aorta is replaced with a tube graft and your own aortic valve is put back in place. The valve-sparing method is done whenever possible and should be done by an experienced surgeon.
If you need surgery, you should choose a major health system that is experienced in this type of surgery. A better understanding of Marfan syndrome, earlier detection, careful follow-up and safer surgical techniques are giving people better results.
You may need treatment for problems that Marfan syndrome causes in other parts of your body. Healthcare providers who specialize in the lungs, bones and eyes can help you with problems in those areas.
Outlook / Prognosis
What is my life expectancy with Marfan syndrome?
Because of medical advances (especially heart surgeries), life expectancy for people with Marfan syndrome started to rise in the late 1970s. In the past, the life expectancy was 32 years. Today, some people with Marfan syndrome can live past age 72. Diagnosis at a young age is best because the disease can progress and pose many risks.
What can I do to stay as healthy as possible if I have Marfan syndrome?
Because Marfan syndrome can affect different parts of your body, it’s important to make sure you have regular appointments with doctors who can help you with problems in areas where your body is affected.
- Follow-up: Routine follow-up appointments should include heart and blood vessel, eye and skeletal exams, especially during the growing years. Your healthcare providers will tell you how often you need these appointments.
- Activity: Activity guidelines vary depending on the extent of the disease and symptoms. Most people with Marfan syndrome can participate in some type of physical and/or recreational activity. If you have an enlarged aorta, you’ll likely need to avoid high-intensity team sports, contact sports and isometric exercises (such as weightlifting). Ask your healthcare provider about activity guidelines for you.
- Pregnancy: You should have genetic counseling before pregnancy because Marfan syndrome is an inherited condition. People who are pregnant and have Marfan syndrome are considered high-risk cases. If your aorta is normal size, the risk for dissection is lower, but still there. Those with even slight enlargement are at higher risk and the stress of pregnancy may cause dilation more quickly. During pregnancy, you will need careful follow-up with frequent blood pressure checks and monthly echocardiograms. If there is a rapid enlargement or aortic regurgitation, bed rest or surgery may be needed. Your doctor will discuss the best method of delivery with you.
- Endocarditis prevention: If you’ve had valve surgery, you have an increased risk for bacterial endocarditis. This is an infection of the heart valves or tissue that happens when bacteria enter the bloodstream. To reduce the risk of endocarditis, antibiotics should be given before dental or surgical procedures. Check with your doctor about the type and amount of antibiotics you should take.
A note from Cleveland Clinic
Learning that you have a genetic disorder like Marfan syndrome is concerning. You may be worried about making lifestyle changes, paying for care, having surgery and needing medical follow-up care for the rest of your life. It’s important to seek medical care from a healthcare provider who has experience in treating Marfan syndrome. Get accurate information. You may also be concerned about the risk to future children. It may help to seek genetic counseling to help understand the disease and your risk of passing it on to your children.
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