Marfan syndrome is an inherited disease that affects the body's connective tissue, which provides the strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and other vital parts of the body.
For people with Marfan syndrome, the connective tissue lacks strength due to its abnormal chemical makeup. The syndrome affects the bones, eyes, skin, lungs, and nervous system along with the heart and blood vessels. The condition is fairly common, affecting 1 in 5,000 Americans. It is found in people of all races and ethnic backgrounds.
One of the biggest threats of Marfan syndrome is damage to the aorta, the artery that carries blood from the heart to the rest of the body. Marfan syndrome can rupture the inner layers of the aorta, causing dissection that leads to bleeding in the wall of the vessel. Aortic dissection can be deadly. Surgery may be required to replace the affected part of the aorta.
Some people with Marfan syndrome also have mitral valve prolapse, a billowing of the heart valve that may be associated with irregular or rapid heart beats and shortness of breath. It may require surgery.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, an essential component of connective tissue that contributes to its strength and elasticity.
In most cases, Marfan syndrome is inherited from a parent, but 1 in 4 cases occurs in people with no known family history of the disease. It occurs equally in men and women, who have a 50% risk of passing on the gene to their children. Marfan syndrome is present at birth, but may not be diagnosed until adolescence or later. Everyone with Marfan syndrome has the same defective gene, but not everyone experiences the same symptoms to the same degree.
Are There Physical Traits in People With Marfan Syndrome?
People with Marfan syndrome may have:
- A tall, thin build.
- Long arms, legs, fingers, and toes and flexible joints.
- Scoliosis, or curvature of the spine.
- A chest that sinks in or sticks out.
- Crowded teeth.
- Flat feet.
How Is Marfan Syndrome Diagnosed?
Genetic testing alone cannot tell you if you have Marfan syndrome, as there are other connective tissue disorders.
If the disease is suspected, the doctor will perform a thorough physical exam of the eyes, heart and blood vessels, and muscle and skeletal system, obtain a history of symptoms and information about family members that may have had the disorder, to determine if you have it.
Other tests, such as a chest X-ray, an electrocardiogram (ECG), and an echocardiogram will be used to evaluate changes in the heart and blood vessels, and detect heart rhythm problems.
If sections of the aorta are unable to be visualized through echocardiogram, or a dissection is already suspected, a transesophageal echocardiogram (TEE), MRI, or CT scan may be needed. The scans can also be used to check the lower back for signs of dural ectasia, a back problem that is common in people with Marfan syndrome.
Other diagnostic tests for Marfan syndrome include a slit lamp eye exam in which the doctor will check for dislocated lenses.
Note: Marfan syndrome is not the only genetic disorder that affects connective tissue. If a person doesn't meet the criteria for Marfan, he or she may have Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, familial aortic aneurysm, and Sticklers syndrome.
How Is Marfan Syndrome Treated?
Marfan syndrome requires a treatment plan that is individualized to the patient's needs. Some people need regular follow-up appointments with their doctor, and during the growth years, routine cardiovascular, eye, and orthopedic exams. Others may need medications or surgery. The approach depends on the structures affected and the severity:
Medications are typically not used to treat Marfan syndrome. However, your doctor may prescribe a beta-blocker, which decreases the forcefulness of the heartbeat and the pressure within the arteries, thus preventing or slowing the enlargement of the aorta. Beta-blocker therapy is usually started when the person with Marfan syndrome is young.
Some people are unable to take beta-blockers because they have asthma or because of the medication's side effects, which may include drowsiness or weakness, headaches, slowed heartbeat, swelling of the hands and feet or trouble breathing and sleeping. In these cases, another medication called a calcium channel blocker may be recommended.
An ongoing clinical trial that began in 2007 is looking at the how two drugs, atenolol, a beta-blocker that may slow the growth of the aorta, and losartan, an angiotension receptor blocker used to lower blood pressure, can be used to manage Marfan syndrome.
The goal of surgery for Marfan syndrome is to prevent aortic dissection or rupture and to treat problems affecting the heart's valves, which control the flow of blood in and out of the heart and between the heart's chambers.
The decision to perform surgery is based on the size of the aorta, expected normal size of the aorta, rate of aortic growth, age, height, gender, and family history of aortic dissection. Surgery involves replacing the dilated portion of the aorta with a graft, a piece of man-made material that is inserted to replace the damaged or weak area of the blood vessel.
A leaky aortic or mitral valve (the valve that controls the flow of blood between the two left chambers of the heart) can damage the left ventricle (the lower chamber of the heart that is the main pumping chamber) or cause heart failure. In these cases, surgery to replace or repair the affected valve is necessary. If surgery is performed early, before the valves are damaged, the aortic or mitral valve may be repaired and preserved. If the valves are damaged, they may need to be replaced.
If surgery is needed, you should consult with a surgeon who is experienced in surgery for Marfan syndrome. People who have surgery for Marfan syndrome still require life-long follow-up care to prevent future complications associated with the disease.
How Does Marfan Sydrome Affect Lifestyle Choices?
- Activity. Most people with Marfan syndrome can participate in certain types of physical and/or recreational activities. Those with dilation of the aorta will be asked to avoid high intensity team sports, contact sports, and isometric exercises (such as weight lifting). Ask your cardiologist about activity guidelines for you.
- Pregnancy . Genetic counseling should be performed prior to pregnancy because Marfan syndrome is an inherited condition. Pregnant women with Marfan syndrome are also considered high-risk cases. If the aorta is normal size, the risk for dissection is lower, but not absent. Those with even slight enlargement are at higher risk and the stress of pregnancy may cause more rapid dilation. Careful follow-up, with frequent blood pressure checks and monthly echocardiograms is required during pregnancy. If there is rapid enlargement or aortic regurgitation, bed rest may be required. Your doctor will discuss with you the best method of delivery with you.
- Endocarditis prevention. People with Marfan syndrome who have heart or valve involvement or who have had heart surgery may be at increased risk for bacterial endocarditis. This is an infection of the heart valves or tissue which occurs when bacteria enters the blood stream. To prevent this, antibiotics may be needed prior to dental or surgical procedures. Ask your doctor whether you need antibiotics, and if so, how much and what kind should be taken. A wallet card may be obtained from the American Heart Association with specific antibiotic guidelines.
- Emotional considerations. Learning you have Marfan syndrome may cause you to feel angry, frightened or sad. You may need to make changes in your lifestyle and adjust to having careful medical follow-up the rest of your life. You may have financial concerns. You also need to consider the risk to your future children. The National Marfan Foundation can provide support.
What Is the Outlook for People With Marfan Syndrome?
A better understanding of Marfan syndrome, combined with earlier detection, regular follow-up care, and safer surgical techniques, has resulted in a better outlook for people with this syndrome.
In the past, the average age of death for people with Marfan syndrome was 32 years old. Today, with the help of early diagnosis, appropriate management, and long-term follow-up care by an experienced team of health care providers, most people with the disorder live active, healthy lives with a life expectancy similar to that of the general population.