What is Marfan syndrome?

Marfan syndrome is a rare genetic disorder. It affects the body's connective tissue. Connective tissue supports and holds the body's cells, organs, and other tissue together.

Marfan syndrome can cause problems all around the body. It can harm blood vessels, heart, eyes, skin, and lungs. It can affect the bones of the hips, spine, feet, and ribs. But some problems that Marfan syndrome causes can be treated or prevented.

What causes Marfan syndrome?

Marfan syndrome is caused by a change (mutation) in a gene. The gene is called FBN1. It helps make a protein in connective tissue called fibrillin-1. The mutation causes problems with this process.

The gene mutation is either:

• Inherited. In about 3 out of 4 cases, the gene is inherited from a parent who is affected. Each child of an affected parent has a 1 in 2 chance of having the disorder. This is called autosomal dominant inheritance.

• Not inherited. In about 1 out of 4 cases, the abnormal gene is from a new mutation. It's not inherited from a parent. Researchers believe this happens more often when the father is older than 45. A person with Marfan has a 1 in 2 chance of passing on the gene.

Who is at risk for Marfan syndrome?

You are more likely to have Marfan syndrome if you have a parent with the disorder. Marfan syndrome happens about equally in all genders. It happens in all ethnic groups.

What are the symptoms of Marfan syndrome?

Symptoms can be different in each person. They can include:

• Facial traits such as a long face, small jaw, deep-set eyes, flat cheek bones

• Tall, thin body

• Long arms, legs, and fingers

• Loose joints

• Curved spine

• Sunken area in middle of chest

• Eye problems such as nearsighted vision

• Crowded teeth

• Flat feet

• Slow healing of wounds

• Scar overgrowth on skin

• Tiredness

• Shortness of breath

The symptoms of Marfan syndrome can be like other health conditions. See your healthcare provider for a diagnosis.

How is Marfan syndrome diagnosed?

The healthcare provider will ask about your symptoms and health history. They will ask if you have a family history of Marfan syndrome. They will give you a physical exam. You may have tests such as:

• Echocardiography. This is an exam of the heart that uses sound waves. It creates moving pictures of the heart. This is done to look at the aorta and heart valves.

• Electrocardiography (ECG). This is a test that records the electrical activity of the heart. It shows abnormal rhythms (arrhythmias).

• Dilated eye exam. This is a complete eye exam that includes looking at the inside of the eye.

• CT or MRI scans. These are imaging tests used to look for abnormal bones or joints.

• FBN1 gene testing. This is a blood test to check for the abnormal gene.

How is Marfan syndrome treated?

There is no cure for Marfan syndrome. Treatment is based on which organs are affected. Some problems of Marfan syndrome can be treated or prevented. These include heart disease, bone changes, eye conditions, crowded teeth, and collapsed lung.

Heart problems are treated by a cardiologist. The treatment may include:

• Heart medicine. This includes beta-blockers and angiotensin receptor blockers (ARBs). Beta-blockers ease the work of the heart.

• Surgery. This is to repair the aorta. It may be planned or it may be an emergency surgery. You may also need surgery to repair heart valves. Some people may need a heart transplant.

Bone and joint problems are treated by an orthopedist or orthopedic surgeon. Treatment may include:

• Braces

• Therapy

• Surgery

Eye problems are treated by an eye doctor (ophthalmologist). Treatment may include:

• Medicine

• Surgery

What are possible complications of Marfan syndrome?

People with Marfan syndrome are at risk for serious complications, especially of the heart and blood vessels. They include:

• Mitral valve prolapse. This is a weakened valve between the left atrium and ventricle of the heart. Prolapse means the blood flows backward from the ventricle to the atrium.

• Heart rhythm problems (arrhythmia or dysrhythmia). The heartbeat may be fast, slow, or irregular.

• Aortic regurgitation. An abnormal valve between the aorta and left ventricle. This allows the blood to flow backward. The left ventricle has to work harder, and there is less blood flow to the rest of the body.

• Aortic dilation. This is an enlarged and weakening of the aorta wall.

• Aortic dissection. This is when the lining of the aorta tears. It can cause sudden heart problems and bleeding in the chest or belly (abdomen). A dissection is a medical emergency.

• Heart failure. The heart is not able to pump as well as it should.

• Heart muscle disease (cardiomyopathy). This is when the heart muscle becomes thicker, stiff, or larger. The heart then becomes unable to pump as well.

Complications that affect other body systems can include:

• Collapsed lung

• Curved spine (scoliosis)

• Inability to move joints (contractures)

• Increased eye pressure (glaucoma)

• Clouding of the lens (cataract)

• Detached retina, the layer of the back of the eye

• Stretch marks on the skin

Living with Marfan syndrome

Most people with Marfan syndrome can expect to live long lives. You will need to be closely watched for problems over time. You will need these regularly:

• Checkups

• Echocardiography tests

• Complete eye exams

Talk with your healthcare providers about physical activities that are safe for you. People with Marfan syndrome should not take part in strenuous activities like weightlifting. They should not take part in sports that make the heart work harder.

People with some heart problems are more likely to get infections that affect the heart. These infections often start in the mouth. Good oral care is important. Take care of your teeth and gums every day. Get regular dental exams.

Some people may need antibiotics before some dental and medical procedures. Talk with your healthcare providers about this.

When should I call my healthcare provider?

Call 911 if you have symptoms of aortic dissection. These include:

• Sudden chest, neck, or jaw pain that may be severe or mild

• A feeling like tearing or ripping along with the pain

• Belly or side pain

• Fainting

• Weak pulse

• Loss of feeling or movement on 1 side of the body

• Shortness of breath

• Trouble swallowing

• Feeling of anxiety and dread

• Confusion

Key points about Marfan syndrome

• Marfan syndrome is a genetic disorder that affects the connective tissue.

• A person with Marfan syndrome may have problems with the bones and joints, heart and blood vessels, and eyes.

• A diagnosis of Marfan syndrome is based on symptoms, family history, and results of tests.

• A person with Marfan syndrome needs to have regular physical exams and tests.

• Treatment is based on which organs and body systems are affected.

• An aortic dissection is a medical emergency.

Next steps

Tips to help you get the most from a visit to your healthcare provider:

• Know the reason for your visit and what you want to happen.

• Before your visit, write down questions you want answered.

• Bring someone with you to help you ask questions and remember what your provider tells you.

• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.

• Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.

• Ask if your condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if you do not take the medicine or have the test or procedure.

• If you have a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your provider if you have questions, especially after office hours and on weekends and holidays.