Marfan Syndrome: Causes, Symptoms, Diagnosis, Treatment and Long-Term Effects

It is a medical condition that specifically affects the connective tissues of the body.

Connective tissue is the “glue” that holds cells together.

It is found in the joints, eyes, heart, blood vessels, lungs, bones, and in the membrane that covers the brain and spinal cord.

Marfan syndrome can affect both men and women of any race or ethnic group. An estimated 1 in 5,000 people has Marfan syndrome.

Most affected individuals inherit the condition from one of their parents, however, some people are the first in their family to have Marfan syndrome.

Marfan syndrome is inherited as an “autosomal dominant” condition, meaning that a person with Marfan syndrome has a 50% chance of transmitting the syndrome to their children.

Genetic testing for Marfan syndrome is available at most centers, but is not typically covered by insurance.

Causes of Marfan syndrome

A change in the structure of DNA causes an abnormality (mutation) in one of the genes that is responsible for the production of certain proteins, which are a key part of connective tissue.

The abnormal gene that causes Marfan syndrome is the FBN1 gene on chromosome 15 that codes for the protein, fibrillin-1.

In patients with Marfan syndrome, the FBN1 gene is abnormal, causing cells in the body to either not make enough fibrillin or to make abnormal fibrillin.

As a result, the connective tissue does not form properly, leading to the changes or symptoms associated with Marfan syndrome.

Symptoms of Marfan syndrome

Many children with Marfan syndrome do not complain of any symptoms.

However, children with ocular involvement may complain of having difficulty seeing far or having blurred vision, they may have back pain or joint pain.

In general, the signs of Marfan syndrome are:

The skeleton

Individuals with Marfan syndrome tend to have a tall, slim body with long arms and long legs.

They are often quite flexible or have “loose” joints.

They may have flat feet (pes planus) or have an inward rotation (pronation) of their feet.

Many affected individuals have a curvature of the spine (scoliosis), an indentation in the chest (pectus excavatum), or a protrusion of the chest (pectus carinatum).

The palate is usually high and narrow, with crowding of the teeth.

The lower jaw may recede, making it appear that the child has an overbite.

The shape of the face is usually long and narrow.

The eye

The lens of the eye is responsible for focusing vision on particular objects. It is held in place by small muscles.

In people with Marfan syndrome, these tiny muscles are more “stretchy” than normal, which subsequently allows the lens to move out of place from the center of the eye.

This process is called lens dislocation, and it occurs in more than half of people with Marfan syndrome.

It can be difficult to diagnose lens dislocation just by looking at the eye, therefore ophthalmologists must place special drops in the eye and examine it under a special microscope to determine if the lens is out of place.

People with Marfan syndrome are also more likely to develop clouding within the lens of the eye (cataracts) and tend to do so at younger ages than is normally expected.

They are also at risk of developing retinal tears or detachment (a retinal detachment is a medical emergency and should be treated as soon as possible).

If treatment is delayed or not obtained, permanent damage to the eye can occur causing partial loss of vision or complete loss of vision in the eye.

Symptoms of a retinal detachment include the sudden appearance of “floaters” in the eye, flashes of light, or a shadow that appears over part of the vision.

To reduce the risk of a retinal detachment, people with Marfan syndrome should avoid high-impact activities such as boxing, soccer, and diving.

The heart and aorta

Connective tissue is present in the heart muscle, valves, and blood vessels, including the aorta.

Approximately 75% of patients with Marfan syndrome have a “flaccid” mitral valve (prolapse).

In patients with mitral valve prolapse, the valve may leak, allowing blood to flow back through the valve.

This is generally well tolerated by most patients, however over time it can progress and cause a decrease in heart function and / or develop abnormal heart rhythms.

If this occurs, patients generally require open heart surgery to repair or replace the mitral valve.

In a very small percentage of patients with Marfan syndrome, heart function can decline even if the mitral valve is working properly.

The aorta is the largest blood vessel in the body and is also affected by Marfan syndrome.

The aorta is made up of three separate layers: the intima, the media, and the adventitia.

The middle layer is elastic and is the layer most affected by Marfan syndrome, making it weaker than a normal aorta.

Every time the heart beats, there is pressure or stress on the aortic wall. Over the years, this stress or pressure causes the aorta to stretch (dilate) and eventually form an aortic aneurysm.

If an aneurysm forms, there is an increased risk of an aortic dissection (tear) occurring, which is a life-threatening medical emergency.

Symptoms of an aortic dissection include chest pain that radiates to the neck or back, shortness of breath, dizziness or lightheadedness, and fainting.


Patients with Marfan syndrome are at risk of developing collapsed lung (pneumothorax).

This can occur spontaneously or from blunt trauma to the chest. Symptoms of pneumothorax include shortness of breath and chest pain.

Some patients with Marfan syndrome may have trouble breathing during sleep.

This can occur for a variety of reasons, including ‘flaccid’ airways, an abnormal palate, and chest wall deformities, which can cause the airway to collapse or narrow during sleep.

The nervious system

The central nervous system is made up of the brain and the spinal column, which is located within a membrane called the dura.

The dura is also made up of connective tissue and therefore also stretches over time.

This most commonly occurs in the lower spine and can cause pain caused by pressure on the bones of the spine.

Other body systems

There is an increased incidence of hernias in the groin (inguinal hernias) in patients affected by Marfan syndrome.

It may also take longer for cuts or skin wounds to heal.

Marfan syndrome diagnosis

Marfan syndrome is diagnosed using the Ghent criteria.

The Ghent criteria represent a set of guidelines that have been established to help physicians and other healthcare providers determine if a patient has Marfan syndrome.

These guidelines are based on clinical features seen on physical examinations, as well as information obtained from family history, echocardiograms, eye exams, and / or genetic testing.

Your doctor may recommend genetic testing to help diagnose Marfan syndrome.

Genetic testing involves obtaining a blood sample to examine the DNA for the abnormal genetic mutation that causes Marfan syndrome.

Treatment for Marfan syndrome

People affected with Marfan syndrome should be followed by physicians familiar with the condition and its effect on all systems of the body.

This is often done by a specialized team of doctors that includes a cardiologist, ophthalmologist, orthopedic surgeon, and geneticist.

Additional specialists may also be requested to participate in care as needed.

At a minimum, patients should be seen annually, unless your healthcare provider recommends more frequent follow-up.

There is no cure for Marfan syndrome at this time. However, medications are used to help slow the progression of aortic dilation over time.

Several types of medications can be used, including beta blockers, angiotensin receptor blockers, and angiotensin converting enzyme inhibitors.

In addition, vigorous exercise, weight lifting, competitive sports, and contact sports can be restricted.

If valve abnormalities are found, antibiotics may be prescribed around the time of surgical or dental procedures to prevent infections in the heart (endocarditis).

Long-term effects of Marfan syndrome

The life expectancy of a person with Marfan syndrome is similar to that of the general population, as long as they receive frequent monitoring and adequate medical care.

The life expectancy of a person with Marfan syndrome is similar to that of the general population, as long as they receive frequent monitoring and adequate medical care.

Medical and surgical treatments continue to improve, offering patients a better quality of life compared to several years ago.

Women with Marfan syndrome, in general, can safely get pregnant, however, they should be under the care of a cardiologist and an OB / GYN who is experienced in caring for patients with this connective tissue disorder.

If either parent is affected by Marfan syndrome, there is a 50:50 chance that the child has Marfan syndrome.

Due to the variability in the expression of the Marfan gene, it is impossible to predict how severely the child will be affected.

The most serious problems with Marfan syndrome involve the cardiovascular system, they can develop aortic aneurysms, which are life-threatening medical emergencies.

With close follow-up by a cardiologist, patients can be referred for elective surgery to replace the aorta when the aorta is approximately 5 cm.

Having elective surgery can lower your risk of having an aortic dissection.