Marfan syndrome is a connective tissue disorder that affects body growth. Connective tissue provides support for your skeletal structure and all the organs of your body. Marfan syndrome, also called Marfan’s syndrome, results from a change in the FBN1 (fibrillin-1) gene. It’s often, but not always, inherited.
Any disorder that affects your connective tissue, like Marfan syndrome, can affect your entire body, including your bones, muscles, skin, eyes, blood vessels, heart, and other organs.
A person with Marfan syndrome may:
- be unusually tall and slender
- have loose joints
- have problems with vision, the heart, other health issues
The symptoms can range from mild to severe. When they appear and how quickly they progress can also vary. Some people develop them as children, while others don’t notice changes until they are adults.
Marfan syndrome can be life threatening if severe symptoms develop early in life. But with treatment, many people can expect a full lifespan.
Symptoms may appear in infancy and early childhood or later in life. Some people with the FBN1 change never develop symptoms. Some have only a few mild symptoms, but the symptoms can be severe for others. They often progress or worsen with age.
This disorder shows itself differently in different people. The visible symptoms occur in your bones and joints.
Visible symptoms may include:
- unusually tall height
- a slender body
- long fingers and toes
- fingers that the person can’t straighten out
- a long, narrow face
- an unusually small jaw
- a high arch in the roof of the mouth
- long limbs
- large, flat feet
- loose and flexible joints
- deep-set eyes
- a curved spine, known as scoliosis
- stretch marks not related to weight changes, especially on the shoulders, hips, and lower back
- a hollow or protruding chest
- crowded teeth
- low muscle tone
- little fat under the skin
The following images show some features of Marfan syndrome:
Connective tissue plays a crucial role in the structure and function of many body parts, which means Marfan syndrome can impact the whole body. But the main complications affect the eyes and the cardiovascular system.
Heart and blood vessels
Marfan syndrome can affect your heart and blood vessels. Your aorta, the large blood vessel that transports blood from your heart, can weaken and stretch.
This can lead to:
- an aortic aneurysm, where there’s a bulge in the aorta
- leaking from the aorta
- tearing in the aorta, known as aortic dissection, which can happen suddenly
- leaking valves in the heart
- congestive heart failure
Some of these changes can be life threatening.
Signs of cardiovascular problems with Marfan syndrome may include:
People with Marfan syndrome often have eye problems. About 6 in 10 people with this condition have “partial lens dislocation” in one or both of their eyes.
Eye problems you may be more prone to if you have Marfan syndrome include:
- displacement of the lens of the eyes
- an unusually flat cornea
- limited development of the iris, the colored part of the eye
- retinal detachment, where the light-sensitive cells at the back of the eye, known as the retina, pulls away from the blood vessels that supply it
People with Marfan disease should seek treatment for eye problems, as they can lead to vision loss.
Brain and spinal cord problems
Some people develop dural ectasia, an enlargement and weakening of the dura, the membrane that surrounds the brain and spinal cord.
As the dura expands, it can put pressure on vertebrae in the lower back, leading to:
- back pain
- abdominal pain
- leg pain
- numbness in the legs
Other spinal problems
Marfan syndrome increases the risk of curvature in the spine, known as scoliosis. This can lead to back pain and breathing problems.
There’s also a higher risk of spondylolisthesis, where one vertebra (a bone in the spine) slips forward over another one. It usually affects the lower spine and can lead to stiffness and pain in the back.
Lung and chest problems
A person may have a protruding or sunken chest.
In some cases, air may accumulate near the top of the lungs, which may result in a collapsed lung.
Marfan syndrome is a genetic disorder. Symptoms can affect people who have a change in the FBN1 gene, which plays a role in forming connective tissue. Not everyone with this change will develop Marfan syndrome.
FBN1 changes can also cause the bones to grow too much, resulting in long limbs and significant height.
Many cases of Marfan syndrome are inherited. There’s a 50 percent chance that if one parent has a change on FBN1, any children they have will also have it. This is called autosomal dominant transmission.
Marfan syndrome is a genetic condition that a person is born with. The only risk factor is having a parent with the genetic feature or the condition.
There’s no test for Marfan syndrome.
Before making a diagnosis, a doctor will usually start by:
- considering any symptoms or features
- asking about your family history
- doing a physical exam
- using specific criteria to assess for Marfan syndrome
Using these criteria, known as the Ghent nosology, a doctor will give points for features like scoliosis, flat feet, and problems with the aorta. The score will help decide if a person is likely to have Marfan syndrome.
Typical exams include:
- an MRI scan, CT scan, or X-ray to look for lower back problems
- an echocardiogram (ECG) to look for unusual features in the aorta and valve problems in the heart
- an electrocardiogram (EKG) to assess heart rate and rhythm
- an eye exam to assess your eyesight and screen for cataracts, glaucoma, and other problems
The doctor may suggest genetic testing to see if a change is present in the FBN1 gene. But not everyone with this change will develop Marfan syndrome. Even if the change is present, it won’t confirm a diagnosis.
There’s no cure for Marfan syndrome, but treatment can address the complications, some of which may otherwise become life threatening.
Beta-blockers — like propranolol or atenolol — can help treat cardiovascular symptoms. They can lower the pressure on the cardiovascular system by reducing the strength and frequency of heart contractions.
A doctor will closely monitor their use and may adjust the dose over time.
Experts also recommend an ECG at least once a year to monitor heart health.
In some cases, surgery may be necessary.
A doctor will likely advise the person to avoid activities that increase strain on the heart, like weightlifting and contact sports.
Bones and joints
A doctor may prescribe an orthopedic brace if you have skeletal problems, like scoliosis.
Some people may have surgery. They may do this for cosmetic reasons or if there’s a risk of medical problems.
Regular eye exams can help detect and correct vision problems. Experts recommend a checkup at least once a year.
Possible interventions include:
- wearing eyeglasses
- using contact lenses
- surgery, in some cases
A person with Marfan syndrome may need to avoid sports and activities that involve a risk of head trauma, like football or boxing.
They should wear protective gear if their work or other activities expose them to possible injury.
Statistics show that people with Marfan syndrome are likely to experience:
- pain, which affects between
42 and 92 percentof people with the condition
- limitations on physical activity
- reduced endurance
- anxiety and depression
These can all affect a person’s quality of life.
Cardiovascular complications, especially problems relating to the aorta, can affect the lifespan of a person with Marfan syndrome.
But doctors now know that seeking treatment for these problems and avoiding activities that worsen them, like contact sports, can
In 1972, a person with Marfan syndrome could expect to live, on average, for 32 years. By 1993, the average lifespan had risen to 72 years.
For this reason, it’s essential to seek treatment and attend all follow-up appointments if you have Marfan syndrome.
Anyone with Marfan syndrome and an enlarged aorta should speak with a doctor before becoming pregnant, as pregnancy may
There’s no way to prevent Marfan syndrome.
If a person has this condition or knows they have a change in the FBN1 gene, they can seek genetic counseling to discuss the risk of having a child with the syndrome.
Even though some
But people can reduce the risk of serious complications by seeking medical help for problems and attending regular checkups as a doctor recommends.
Marfan syndrome is a genetic condition that affects connective tissue, which plays a crucial role in forming skin, bones, blood vessels, the heart, and other vital organs.
A person with this syndrome may have unusual physical features, like long bones, causing them to be taller or have longer limbs than other people. They also have a higher risk of cardiovascular problems, eye conditions, and other health issues.
It’s not possible to prevent Marfan syndrome, but treatment can dramatically improve the length and quality of a person’s life if they have this condition.