Marfan Syndrome

Marfan syndrome is a genetic condition that weakens the body’s connective tissue, affecting the heart, blood vessels, eyes, bones, and other organs. With proper care and monitoring, people with this condition can live long and productive lives.

Table of contents

• What is Marfan Syndrome?
• What Causes Marfan Syndrome?
• Signs and Symptoms
• Possible Complications
• How is Marfan Syndrome Diagnosed?
• Treatment and Management
• Living with Marfan Syndrome

What is Marfan Syndrome?

Marfan syndrome is a genetic disorder that affects the body’s connective tissue, which is the material that provides support and structure to organs, bones, blood vessels, and other parts of the body^[1]. This condition occurs when the connective tissue becomes too loose and elastic, unable to provide the strength and flexibility that the body needs^[3].

The syndrome is present at birth, though you may not receive a diagnosis until your teenage years or young adulthood^[3]. It affects approximately 1 in 3,000 to 5,000 people, making it one of the most common inherited connective tissue diseases^[3][4]. Both men and women of all ethnic backgrounds have a similar risk of developing the condition^[8].

Because Marfan syndrome is described as a “variable expression” genetic condition, not everyone experiences the same symptoms. The signs and how severe they are can vary greatly from person to person, even within the same family^[1][3].

What Causes Marfan Syndrome?

Marfan syndrome is caused by a change in the FBN1 gene, which provides instructions for making a protein called fibrillin^[3][5]. Fibrillin is a key component of elastic fibers in connective tissue throughout your body. When this gene is altered, the body cannot produce enough healthy fibrillin, causing parts of the body to stretch too much when placed under stress and allowing some bones to grow longer than they should^[3][8].

In most cases, Marfan syndrome is inherited from a biological parent. The condition has an autosomal dominant inheritance pattern, meaning you only need to receive the altered gene from one parent to develop the syndrome^[3]. If one parent has Marfan syndrome, there is a 50 percent chance they will pass the genetic change to each of their children^[2][4].

However, about 1 in 4 people with Marfan syndrome have no family history of the condition^[4]. In these cases, the genetic change occurs spontaneously for unknown reasons in the parent’s egg or sperm^[7].

Signs and Symptoms

The signs and symptoms of Marfan syndrome can vary greatly from person to person. Some people are only mildly affected, while others develop more serious symptoms^[7]. The syndrome can affect many different parts of the body.

The two main features of Marfan syndrome are aortic root aneurysm, which is widening or bulging of the aorta near the heart valve, and dislocated eye lens, also called ectopia lentis^[3]. These conditions can lead to symptoms such as heart palpitations (feeling like your heart is skipping a beat or fluttering), a heartbeat that feels too hard or too fast, eye pain, shortness of breath, and vision changes like extreme nearsightedness^[3].

People with Marfan syndrome often have distinctive physical features. They are typically tall and thin with unusually long arms, legs, fingers, and toes^[1][2]. Other physical characteristics may include a long narrow face, crowded teeth, a curved spine called scoliosis, flat feet, and loose, flexible joints that dislocate easily^[3][7].

The chest may appear sunken inward, a condition called pectus excavatum, or may stick outward, known as pectus carinatum^[3]. Stretch marks may appear on the skin even without weight changes^[3].

Eye problems are common and may include severe nearsightedness, cataracts, glaucoma, or detached retina^[4][5]. Many people with Marfan syndrome experience fatigue, especially when long periods of concentration are required^[21].

Possible Complications

Marfan syndrome can lead to several serious complications, particularly affecting the heart, blood vessels, eyes, and lungs.

The most serious complications involve the heart and blood vessels. Problems with the heart and blood vessels affect about 9 out of every 10 people with Marfan syndrome and related conditions^[2]. The most common issue affects the aorta, the main blood vessel that carries blood from the heart to the rest of the body^[1][2].

If the aorta becomes enlarged, it can tear or rupture, which is life-threatening^[4]. Aortic dissection, which is a tear in the inner layer of the aorta’s wall, is a major concern^[3]. Heart valves can also weaken and stretch, allowing blood to leak backward and putting extra strain on the heart^[1][3]. Over time, the heart muscle may enlarge and weaken, and abnormal heart rhythms may develop^[3].

Eye complications may include cataracts, glaucoma, and retinal detachment, which can lead to blurred vision or loss of sight^[3][4]. Changes in lung tissue that occur with Marfan syndrome increase the risk for asthma, bronchitis, and collapsed lung, a condition called pneumothorax^[3][4].

Bone and joint problems can include severe scoliosis that affects breathing and causes back pain, as well as joint pain and dislocation^[11][25].

How is Marfan Syndrome Diagnosed?

Diagnosing Marfan syndrome can be challenging because many connective tissue disorders have similar signs and symptoms^[10]. The diagnosis usually involves multiple healthcare providers working together as a team^[3].

Your healthcare provider will start by asking about your medical history and family history, and will perform a thorough physical examination^[3][7]. The current diagnosis relies on the revised Ghent criteria, which places particular importance on aortic root aneurysm and dislocated eye lens, as well as FBN1 gene changes and family history^[5].

Several tests may be needed to confirm the diagnosis. Heart tests are often the first recommended. An echocardiogram uses sound waves to create real-time images of your heart in motion and checks the condition of your heart valves and the size of your aorta^[10]. Other heart-imaging options include CT scans and MRI^[10].

Eye examinations are important and may include a slit-lamp exam to check for lens dislocation, cataracts, or detached retina, as well as an eye pressure test to check for glaucoma^[10].

Genetic testing is often used to confirm the diagnosis. If a gene change related to Marfan syndrome is found, family members can be tested to see if they are also affected^[10].

If you are diagnosed with Marfan syndrome, you will need regular imaging tests to monitor the size and condition of your aorta^[10][19].

Treatment and Management

There is currently no cure for Marfan syndrome, but treatment focuses on managing symptoms and preventing complications^[7][11]. With proper treatment and careful monitoring, people with Marfan syndrome can live long and productive lives^[2][13].

Treatment usually includes medications to keep blood pressure low, which reduces strain on the aorta^[1]. Beta-blockers and other medications that reduce pressure on the blood vessels are commonly prescribed^[5][16]. Regular monitoring is essential to check for damage progression^[1].

Surgery may be necessary to prevent or repair problems. The most common surgery for Marfan syndrome is aortic root surgery, which involves replacing the weakened part of the aorta with a synthetic graft^[14]. Many people with Marfan syndrome eventually require preventive surgery to repair the aorta^[1]. Heart valve problems may also require repair or replacement^[14].

For bone and joint problems, treatment depends on severity. Mild scoliosis may be monitored closely, while more severe cases might require a back brace or surgery to straighten the spine^[11][25]. Surgery may be needed if the curved spine affects breathing or causes significant back pain^[11].

Eye problems such as dislocated lenses, cataracts, and glaucoma may require surgery^[14]. Chest deformities that affect breathing may also need surgical correction^[11].

Physical therapy can help improve range of movement and strengthen muscle support, making it easier to move comfortably^[11][25]. Pain relief medications like paracetamol may be helpful for joint pain^[11].

Living with Marfan Syndrome

Managing Marfan syndrome requires ongoing attention, but most people with the condition can lead productive and satisfying lives^[18][20]. Day-to-day management, including routine treatment and attention to physical activity guidelines, is powerful way to safeguard your health^[20].

Regular follow-up visits with your healthcare team are essential. You may need to see multiple specialists, including heart doctors, eye specialists, bone specialists, and genetic counselors^[11][25]. Annual checkups help monitor any changes in your condition^[19].

Regular dental checkups are also important, as people with Marfan syndrome often have teeth, gum, or jaw problems that require routine care^[19]. You may need to take antibiotics before dental procedures to help prevent infection^[19].

Physical activity guidelines are important because they help you achieve the benefits of safe exercise while avoiding added stress on your heart and blood vessels^[20]. In general, most people with Marfan syndrome should exercise regularly through low-intensity activities adapted to meet their specific needs^[20]. It is essential to discuss physical activities with your doctor, as competitive and contact sports can put you at increased risk of injury^[20].

A balanced healthy diet rich in vitamins and minerals encourages the production of connective tissue^[21]. Smoking should be avoided, as it destroys elastin, the very protein that is already deficient in Marfan syndrome^[21].

Learning to pace yourself is important, especially when long periods of concentration are required, as fatigue can be a problem^[21]. Following your healthcare provider’s recommendations for a healthy lifestyle, including eating heart-healthy foods, being physically active, managing stress, and aiming for a healthy weight, can help you manage your condition^[19].

If you are thinking about having children, you may want to talk to a genetic counselor to understand your chances of passing Marfan syndrome to your child and to learn about available options^[10][18].