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Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop.

Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which creates the features and medical problems associated with Marfan syndrome and some related conditions.

Because connective tissue is found throughout the body, Marfan syndrome can affect the heart and blood vessels.

What happens once you have Marfan syndrome?

Some people have many Marfan features at birth or as young children—including enlargement of the aorta (expansion of the main blood vessel that carries blood away from the heart to the rest of the body). Others develop aortic enlargement or other signs of Marfan syndrome when they are adults.

Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. The lungs, skin, and nervous system may also be affected. People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes. Marfan syndrome does not affect intelligence.

Their doctor must closely follow people with Marfan syndrome to watch for the following complications:

  • Heart disease, including an aortic aneurysm (bulge) and problems with heart valves. An aortic aneurysm can cause the walls of the aorta to tear apart and leak blood.

  • A collapsed lung, which makes breathing difficult.

  • Bone deformities such as scoliosis (a curved spine) or a breastbone that is sunken or sticks out.

  • Eye conditions that can lead to blurred vision or loss of sight, such as a retinal detachment.

  • Teeth that are crooked or crowded together, which might require dental procedures.

What causes Marfan syndrome?

Marfan syndrome is caused by a genetic mutation called FBN1. The mutation limits the body’s ability to make proteins needed to build connective tissue. One in four people with Marfan syndrome develops the condition for unknown reasons.

A person with Marfan syndrome has a one in two chance of passing it on to their child. Fortunately, Marfan syndrome is rare, happening in about 1 in 5,000 people.

What types of tests are used to diagnosis Marfan syndrome?

People with Marfan syndrome and related conditions need to receive early diagnosis and treatment. The earlier some treatments are started, the better the outcomes. It isn’t always easy to diagnose Marfan syndrome because it affects everyone differently. Some people with Marfan syndrome don’t show signs of it until later in childhood or adulthood.

Testing for Marfan syndrome may include:

  • Eye exam.

  • Physical exam.

  • Family history.

  • Genetic testing.

  • Echocardiogram (using sound waves to look for problems with the aorta and heart valves).

What types of treatments and procedures are used to treat Marfan syndrome?

Treatment depends on which parts of the body are affected. An aortic aneurysm may be treated with medicine or medicine plus surgery. Medication is used to lower blood pressure to prevent an aneurysm from rupturing and causing a dissection of the aorta.

What can I do to support my health when I have Marfan syndrome?

There is no way to prevent Marfan syndrome. People with Marfan syndrome are born with it. Relatives may want to seek genetic counseling since there is a 50% risk of passing the abnormal gene to their child.

Complications of Marfan syndrome may be prevented with proper care and monitoring. For example, medications to lower blood pressure may prevent the expansion of an aortic aneurysm, and surgery to repair an expanding aneurysm may prevent aortic rupture.

Why choose Presbyterian for Marfan syndrome treatment?

Presbyterian’s Heart and Vascular team has many different options to help you manage your heart condition. The team performs various diagnostic tests and procedures to help form an accurate diagnosis and create individualized treatment plans for your heart health needs. Depending on the type of heart condition you have and its underlying cause, the team can recommend a wide variety of treatment options, including lifestyle modifications, medications, and procedures. Our cardiologists and cardiovascular surgeons work closely together for cases in which surgery is the best treatment option. We also offer a customized cardiac rehabilitation program at our Healthplex, where clinically appropriate, which can improve your endurance and exercise tolerance, as well as improve heart-related symptoms. Your cardiologist will work with the rehabilitation team to create a plan that will be tailored to your individual health needs.