What is Marfan syndrome

Marfan syndrome (also known as Marfan’s syndrome) is a disorder that affects the connective tissue in many parts of your body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, skin, lungs and heart valves. Marfan syndrome generally affects the limbs, but can also affect the spine, sternum, eyes, heart and blood vessels. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

Marfan syndrome is usually inherited from a parent with the condition. Marfan’s syndrome is one of the most common autosomal dominant inherited disorders of connective tissue. The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide, most of who get the disorder passed on from their family. However, in about 25% of people diagnosed with Marfan syndrome, nobody else in the family is affected – the disease is due to a new random mutation in the FBN1 gene. These latter cases are more severely affected.

The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). Approximately 80% of patients will develop aortic complications. The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (aortic aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening.

• Patients with Marfan’s are at increased risk of early cardiovascular death from aortic aneurysms (dilations) and dissection (splitting of the wall). This the cause of death in 30-45% of individuals with Marfan’s syndrome. 

Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). Leaks in these heart valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). Family history of these complications, male sex and extreme physical characteristics are associated with higher cardiovascular risks. If you suffer this disorder you will be advised to make several lifestyle changes to reduce your risk.

Figure 1. The anatomy of the heart valves

Figure 2. Heart valves function

Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds their body height. Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine (scoliosis or kyphosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax). A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs more frequently in people with Marfan syndrome than in those without the condition.

The features of Marfan syndrome can become apparent anytime between infancy and adulthood. Patients may be diagnosed with Marfan’s at birth, during childhood or later in life. The more severe cases are usually diagnosed early. Many patients present with features such as tall stature and an arm span that exceeds height. However, lens dislocation, aortic dilatation or skeletal manifestations (such as pectus deformities or scoliosis) may also be the first presentation. Many of the manifestations of the disease change with age so diagnosis can be difficult in children. Marfan’s syndrome causes a host of physical abnormalities but is not thought to affect intelligence.

Depending on the onset and severity of signs and symptoms, Marfan can be fatal early in life; however, the majority of affected individuals survive into mid- to late adulthood.

Figure 3. Arachnodactyly

Figure 4. Marfan syndrome abnormal curvature of the spine (scoliosis or kyphosis)

Figure 5. Marfan syndrome – sunken chest (pectus excavatum)

Figure 6. Marfan syndrome – protruding chest (pectus carinatum)

Figure 7. Marfan syndrome arm span that exceeds their body height

If you have Marfan syndrome, it is important to understand how it affects your body and to be aware of your physical limitations. You can help prevent unnecessary stress or strain on joints by taking care during physical activity.

Treatment usually includes medications to lower your blood pressure to reduce the strain on your aorta. Some people may need annual check-ups to monitor the heart. Regular monitoring to check for damage progression is vital. Many people with Marfan syndrome eventually require preventive surgery to repair damaged heart valves, blood vessels and joints.

How is marfan syndrome inherited?

• 75% of Marfan syndrome is most often inherited in an autosomal dominant pattern from a parent, who will have a 50% chance of passing the condition on to their children.
• 25% Marfan syndrome is due to a new random mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.

Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it’s a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.

Education in the form of genetic counseling is particularly important for families with Marfan syndrome as there is a 50% chance of one affected parent passing the disease on to their child. If you or a family member are diagnosed with Marfan’s syndrome you will likely be referred to a genetic counselor or clinical geneticist for information regarding your disorder and screening programs. All close family members may be offered testing for the gene involved and be screened on a yearly basis for the development of clinical features.

Figure 8. Marfan syndrome autosomal dominant inheritance pattern (75 percent of Marfan syndrome cases)

Marfan syndrome eyes

Most people with Marfan syndrome suffer from nearsightedness or myopia, and abnormal curvature of the eye or astigmatism. These can be notably high since the connective tissue defect can affect the cornea, lens, and growth of the eye. Other signs and symptoms include ectopia lentis, corneal thinning, flattened corneal curvature, cataracts, glaucoma, strabismus, and retinal detachment.

What is ectopia lentis?

Ectopia lentis is a shift in the location of the lens inside the eye (i.e., lens subluxation). The lens moves from its normal location in the eye so that the person is not looking through the center of their lens. It can be progressive such that the person may be looking through the edge of the lens or through an area where there is no lens as time goes on. This dislocation is caused by weakness in the connective tissue that holds the lens in place (zonules). Ectopia lentis occurs in roughly 60% of individuals with Marfan syndrome and is one of the major criteria for the clinical diagnosis of this condition [See figures 1 and 2]. If a person does not have dislocated lenses, though, it does not mean that they do not have Marfan syndrome.

Figure 9. Marfan syndrome – Ectopia lentis (dislocated lens)

Marfan syndrome life expectancy

The prognosis of Marfan syndrome largely depends on the severity of the complications previously mentioned and the degree of progressive aortic dilation which can lead to death at a young age. However, the life expectancy for patients with Marfan syndrome has improved over time, presumably due to improved detection and intervention, including surgical procedures and the use of beta-blockers. The average lifespan is now approximately 70 years.

Marfan syndrome complications

Because Marfan syndrome can affect almost any part of your body, it may cause a wide variety of complications.

Cardiovascular complications

The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta — the large artery that arises from the heart and supplies blood to the body.

• Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart.
• Aortic dissection. The wall of the aorta is made up of layers. Dissection occurs when a small tear in the innermost layer of the aorta’s wall allows blood to squeeze in between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel’s structure and can result in a rupture, which may be fatal.
• Valve malformations. People who have Marfan syndrome also are more likely to have problems with their heart valves, which may be malformed or overly elastic. When heart valves don’t work properly, your heart often has to work harder to compensate. This can eventually lead to heart failure.

Eye complications

Eye complications may include:

• Lens dislocation. The focusing lens within your eye can move out of place if its supporting structures weaken. The medical term for this problem is ectopia lentis, and it occurs in more than half the people who have Marfan syndrome.
• Retinal problems. Marfan syndrome also increases the risk of a detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye.
• Early-onset glaucoma or cataracts. People who have Marfan syndrome tend to develop these eye problems at a younger age. Glaucoma causes the pressure within the eye to increase, which can damage the optic nerve. Cataracts are cloudy areas in the eye’s normally clear lens.

Skeletal complications

Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome.

Complications of pregnancy

Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, a woman’s heart is pumping more blood than usual, and this can put extra stress on a woman’s aorta — which increases the risk of a deadly dissection or rupture.

Marfan syndrome causes

Marfan syndrome is caused by a gene abnormality, specifically a change (mutation) in the FBN1 gene that affects the elasticity of connective tissue in muscles and joints. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils store molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, excess growth factors are released and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues.

• Marfan syndrome is most often inherited from a parent in an autosomal dominant pattern, who will have a 50% chance of passing the condition on to their children.
• However, in about one quarter of people diagnosed with Marfan syndrome, nobody else in the family is affected – the disease is due to a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.

The FBN1 gene is in the long arm of chromosome 15 at position 21.1 (15q21.1).

Marfan syndrome signs and symptoms

The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications, about 1 in 10 – experience more severe symptoms. In most cases, the disease tends to worsen with age.

Marfan syndrome features may include:

• Tall and slender build
• Disproportionately long arms, legs and fingers
• A breastbone that protrudes outward or dips inward
• A high, arched palate and crowded teeth
• Heart murmurs
• Extreme nearsightedness
• An abnormally curved spine
• Flat feet

Other features include hernias (part of the intestine protruding through a weakened part of the abdominal wall), and lung complications (e.g., sudden lung collapse, emphysema, asthma, sleep apnea).

Skeleton

Someone with Marfan syndrome may have several distinct physical characteristics. They may be:

• tall and slim, with long, thin arms and legs
• have loose and very flexible joints

Other physical characteristics of Marfan syndrome can include:

• a small lower jaw
• a high, arched palate (roof of the mouth)
• deep-set eyes
• flat feet
• a breastbone (sternum) that either protrudes outwards or indents inwards
• crowded teeth

Scoliosis

Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis.

Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs.

Spondylolisthesis

Spondylolisthesis is where one of the bones in your spine (a vertebra) slips forward over another vertebra.

This usually occurs in the lower spine, and can cause back pain and stiffness. Anyone can develop spondylolisthesis, but it more commonly affects people with Marfan syndrome.

Dural ectasia

The dura is the membrane that lines your brain and spinal cord. Dural ectasia is a condition where the dura becomes weakened and expands outwards.

People with Marfan syndrome are at particular risk of developing dural ectasia. As the membrane expands, it can press on the vertebrae in your lower back, which can cause:

• backache
• headache
• numbness or pain in your legs

Eyes

Many people with Marfan syndrome have some type of vision problem.

Lens dislocation affects half of all people with the syndrome. This is where the eye’s lens, the transparent structure that sits behind the pupil and focuses light, falls into an abnormal position.

Other possible eye-related symptoms of Marfan syndrome include:

• myopia – short-sightedness
• glaucoma – increased pressure in the eyeball which, left untreated, can cause permanent vision loss
• cataracts – where cloudy patches develop in the eye’s lens, causing blurred or misty vision
• retinal detachment – where the light-sensitive layer of cells at the back of your eye (retina) begins to pull away from the blood vessels that supply it with oxygen and nutrients

Cardiovascular system

Marfan syndrome can affect the cardiovascular system, which is made up of your heart and blood vessels. It’s particularly serious if your aorta and heart valves are affected.

Aorta

The aorta is the main artery in the body. It runs from your heart, down the centre of your chest, and through your abdomen.

In people with Marfan syndrome, the walls of the aorta are weak. This can sometimes cause the aorta to enlarge and balloon, which is known as an aortic aneurysm.

In severe cases, the aorta can split (rupture), causing potentially fatal internal bleeding.

Heart valves

Your heart has four chambers that pump blood to and from the rest of the body. To control the flow of blood through your heart’s chambers, your heart has four valves:

• mitral valve
• aortic valve
• tricuspid valve
• pulmonary valve

These valves act as one-way gates, allowing blood to flow through in one direction. In some people with Marfan syndrome, the mitral or tricuspid valves don’t close properly and blood leaks back through the valve.

The aortic valve may also leak, leading to the main pumping chamber (left ventricle) gradually becoming enlarged.

Stretch marks

Stretch marks are pink, red, or white streaks in the skin. They can appear when you gain or lose weight quickly, when you have a growth spurt during childhood, or during pregnancy.

People with Marfan syndrome often develop stretch marks because the tissue in their skin is weakened and the skin isn’t as elastic as it should be.

If you have Marfan syndrome, stretch marks are most likely to appear on your:

• shoulders
• hips
• lower back

Over time, they’ll gradually fade to a silvery color and will be difficult to see.

If you suffer Marfan’s syndrome you may have noticed the following features:

• Delayed gross and motor development due to laxity of ligaments.
• You may have been diagnosed with a murmur previously.
• Abnormal heart rhythms.
• Sudden onset of thoracic (chest) pain due to aortic dissection.
• Lower back pain- Possibly with burning, numbness or weakness in the legs due to an abnormality of a membrane lining the spinal canal. This can also cause headaches and other neurologic deficits.
• Joint pain in adults.
• Shortness of breath, palpitations and substernal pain in severe pectus excavatum (deformity of the chest wall).
• Visual problems or loss of vision due to lens dislocation or retinal detachment.

Skeletal abnormalities are usually the most obvious feature of Marfan’s. Individuals are typically exceptionally tall, with long arms and legs, and elongated tapering fingers and toes. The ligaments in hand and foot joints are lax, and individuals may appear to be double jointed due to the increased joint mobility. A number of spinal abnormalities may be present, including kyphosis (increased outwards curvature of the spine) or scoliosis (sideways curvature of the spine). There maybe also be abnormalities of the chest wall, which may be depressed inwards (pectus excavatum) or outwards (pectus carinatum).

Eye changes may also be present. Most common is dislocation of the lens in both eyes (ectopia lentis). This is very uncommon, and if present should raise the suspicion of Marfan’s syndrome.

The most serious manifestation of Marfan’s syndrome are heart complications. Dilatation of the aorta (widening and structural weakening of the aorta) may occur, increasing the risk of an aortic dissection – a rupture through the aorta causing massive hemorrhage. The heart valves may also be affected. Deficient connective tissue support results in floppy valves, which may predispose to heart failure. An abnormal heart rhythm may be present.

Marfan syndrome diagnosis

Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. Even among members of the same family, the signs and symptoms of Marfan syndrome vary widely — both in their features and in their severity.

Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan syndrome. In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder.

Ghent criteria

Your doctor may compare the signs and symptoms against the Ghent criteria. This is a diagnostic tool that helps doctors and other healthcare professionals tell the difference between Marfan syndrome and other similar syndromes.

The Ghent criteria consists of major and minor criteria. The major criteria are features or symptoms common in people with Marfan syndrome that are rare in people who don’t have it.

Minor criteria are features or symptoms present in people with Marfan syndrome, but are also present in people who don’t have it.

To be diagnosed with Marfan syndrome using the Ghent criteria, you must have a number of different symptoms.

• If you have a family history of Marfan syndrome, you’ll need to have one of the major criteria and one of the minor criteria.
• If you don’t have a family history of Marfan syndrome, you’ll need to have two major criteria and one of the minor criteria.

Some of the major and minor criteria used to help diagnose Marfan syndrome are listed below.

Major criteria

Major criteria can include:

• an enlarged aorta
• a tear in the aorta
• dislocation of the lens of the eye
• a family history of the syndrome
• at least four skeletal problems, such as flat feet or curved spine (scoliosis)
• enlargement of the lining that surrounds part of the spinal cord (dural ectasia)

Minor criteria

Minor criteria can include:

• near-sightedness (myopia)
• unexplained stretch marks
• loose joints
• a long, thin face
• a high, arched palate (roof of the mouth)

Marfan syndrome test

Heart tests

If your doctor suspects Marfan syndrome, one of the first tests he or she may recommend is an echocardiogram. This test uses sound waves to capture real-time images of your heart in motion. It checks the condition of your heart valves and the size of your aorta. Other heart-imaging options include computerized tomography (CT) scans and magnetic resonance imaging (MRI).

If you are diagnosed with Marfan syndrome, you’ll need to have regular echocardiograms to monitor the size and condition of your aorta.

Eye tests

Eye exams that may be needed include:

• Slit-lamp exam. This test checks for lens dislocation, cataracts or a detached retina. Your eyes will need to be completely dilated with drops for this exam.
• Eye pressure test. To check for glaucoma, your eye doctor may measure the pressure inside your eyeball by touching it with a special tool. Numbing eyedrops are usually used before this test.

Genetic testing

If findings from standard exams for Marfan syndrome aren’t clear-cut, genetic testing can be helpful.

Although the gene that causes Marfan syndrome has been identified, it can change (mutate) in more than 3,000 different ways. Genes are single units of genetic material.

You may also want to talk to a genetic counselor before starting a family, to see what your chances are of passing on Marfan syndrome to your future children.

A genetic test can be used to examine the gene responsible for Marfan syndrome. It’s able to detect an error that causes the syndrome in 99% of those affected. However, the test is expensive and takes three months to complete.

In most cases, a diagnosis of Marfan syndrome will be made from the physical features and symptoms of the syndrome.

Prenatal testing

Once a gene mutation for Marfan syndrome has been found, and you’re going to become a parent, you may want to have your unborn baby tested to find out whether they also have the syndrome.

There’s a one in two (50%) chance of the baby inheriting the syndrome.

To do this, two possible tests can be used – chorionic villus sampling (CVS) or amniocentesis.

Chorionic villus sampling

Prenatal testing for Marfan syndrome can be carried out approximately 10 to 12 weeks into the pregnancy using chorionic villus sampling (CVS).

Chorionic villus sampling involves taking a small sample of cells from the organ that links the mother’s blood supply with her unborn baby’s (the placenta) through the entrance of the womb. The sample can then be tested for genetic conditions.

Amniocentesis

Amniocentesis can also be used to test for Marfan syndrome. The test is carried out about 16 to 18 weeks into the pregnancy and involves taking a small sample of amniotic fluid for examination. Amniotic fluid surrounds the unborn baby in the womb.

Caution

Although prenatal tests may show whether your child has the defective gene that causes Marfan syndrome, the tests won’t give any indication as to how serious their symptoms will be. Generally, the baby will be affected to the same extent as other people in their family.

The severity of Marfan syndrome in the parent is an indication of how severe it will be in the child. Your child may only experience very mild symptoms, despite having the genetic mutation. This is because the expression of the gene can vary, even within the same family.

In some cases, the results of chorionic villus sampling or amniocentesis could be negative, suggesting that your child doesn’t have the defective gene. However, your child may have a different genetic mutation that wasn’t tested for, but could still cause Marfan syndrome.

Preimplantation genetic diagnosis

Preimplantation genetic diagnosis is a technique where eggs and sperm are harvested from the parents so embryos can be created in a laboratory.

Only unaffected embryos are available for implantation in the womb. The process takes about 12 months.

Preimplantation genetic diagnosis is only an option after a person with Marfan syndrome has been identified as having a Marfan gene mutation and wants to become a parent.

Marfan syndrome treatment

As Marfan syndrome affects several different parts of the body, your treatment programme will involve a number of healthcare professionals, who may include:

• a geneticist – a specialist in genetic disorders
• a genetic counselor – who provides information, emotional support and guidance to people who’ve been diagnosed with a genetic condition
• a cardiologist – a specialist in heart conditions
• an ophthalmologist – a specialist in conditions that affect the eyes
• an orthopedic surgeon – a surgeon who specialises in treating conditions that affect the muscles, joints and bones
• a pediatrician – a specialist in treating babies and children up to the age of 16

You’ll usually be assigned a doctor to co-ordinate your treatment programme and ensure every aspect of the syndrome is closely monitored and, if necessary, treated.

Patients with Marfan’s are advised to avoid strenuous activities and contact sports due to risk of cardiac complications. Highly competitive sports for those involving isometric work such as weightlifting, climbing steep inclines, gymnastics, and pull-ups should be avoided due to risks of increased blood pressure and sudden death. Non-strenuous activities and sports (such as golf, walking, fishing) are recommended. It may also be necessary to change your job to a more sedentary one as you may find yourself easily fatigued or the visual and painful skeletal changes may limit your work.

Some patients may require cardiac surgery which can prolong and improve quality of life. Surgery may be performed on the aorta either under emergency or preventative circumstances. Surgery may also be helpful for improving chest wall deformities, severe scoliosis and repairing detached retinas. An orthopedic surgeon and ophthalmologist will be involved in your long-term care.

Patients with Marfan’s are usually given medications (long-term) to help lower the risk of cardiac complications. The main class of drugs used are called beta-blockers which reduce the dilation of the aortic root. Long term monitoring of cardiac complications is also required, including blood pressure checks and regular echocardiography. Your cardiologist will determine the frequency of these visits that is suitable for you depending on the severity of your condition. However, patients are usually followed up every six months to one year.

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing.

In the past, people who had Marfan syndrome rarely lived past 40. With regular monitoring and modern treatment, most people with Marfan syndrome can now expect to live a more normal life span.

Medications

Doctors often prescribe blood pressure lowering drugs to help prevent the aorta from enlarging and to reduce the risk of dissection and rupture. The most commonly used drugs are beta blockers, which cause your heart to beat more slowly and with less force. Losartan (Cozaar), a newer blood pressure medication, also is useful for protecting the aorta.

Skeletal problems

Skeletal problems that develop as a result of Marfan syndrome can sometimes cause significant pain and discomfort.

They may also affect your appearance, which some people find affects their confidence and self-esteem.

There are a number of ways skeletal symptoms can be treated. Some of these are outlined below.

Loose, painful joints

Seventy per cent of people with Marfan syndrome have pain in and around their joints. Good posture, exercises, and the use of joint supports, as well as pain relief, such as paracetamol and non-steroidal anti-inflammatory drugs (NSAIDs), can prove helpful.

Scoliosis

Treatment for curvature of the spine (scoliosis) will depend on how severely your spine is curved. If your spine is mildly curved, your treatment team will closely monitor it to see whether it gets worse.

In some cases, particularly in children who are still growing, a back brace may be recommended. The brace won’t cure scoliosis, but it may stop it getting worse.

A back brace usually needs to be worn for 23 hours a day, and is only removed for baths, showers, swimming, and contact sports. Some children find wearing a back brace difficult at first, but it needs to be worn for the correct amount of time to be effective.

Surgery will usually be needed to straighten your spine if it curves by 40 degrees or more. Straightening the spine will help alleviate problems such as restricted breathing and back pain.

A number of different types of surgery can be used to treat scoliosis. The type recommended will depend on your age and individual circumstances.

In young children – generally those under the age of 10 – growing rods are inserted, which allow for continued growth while partially correcting the curvature of the spine.

In teenagers and young adults, an operation called spinal fusion may be carried out. This is where the spine is straightened using metal rods that are attached with screws, hooks, and wires. Bone grafts are used to fuse the spine in place.

Surgery for adults with scoliosis is usually only recommended if the spinal curvature is severe, getting significantly worse, or the nerves in the spine are being compressed.

The two main types of surgery used are decompression surgery, where the disc or bone pressing on a nerve is removed, and spinal fusion surgery.

These are major operations that can take a year or more to fully recover from. They also carry a risk of potentially serious complications, such as infection, blood clots, and, in rare cases, nerve damage.

Convex and concave chest

Marfan syndrome can sometimes affect the natural position of the chest. Your chest is concave if it caves inwards, and convex if it protrudes outwards.

In rare cases, a person’s chest can be severely concave and press against their lungs, affecting breathing. Surgery will usually be required to help ease the pressure on the lungs.

Surgery for a concave chest involves raising the breastbone (sternum) and ribs, and fixing them in place with a metal bar. Once the breastbone and ribs are fixed in position, the bar will be removed.

A convex chest shouldn’t cause any health problems and won’t usually require treatment. However, some people with a convex chest choose to have treatment for cosmetic reasons.

Physiotherapy

Physiotherapy uses physical methods such as exercise, massage, and manipulation to promote healing and wellbeing. It can help improve your range of movement and strengthen muscle support.

If skeletal problems are making it difficult for you to get around, physiotherapy may help make moving easier and more comfortable.

Heart problems

Marfan syndrome can cause serious heart problems, which can be fatal. It’s therefore important that your heart is treated as a priority.

You’ll need to have regular check-ups with a cardiologist, who will be able to monitor your heart. This may mean having a yearly echocardiogram, where an ultrasound scan produces an image of your heart.

An echocardiogram can identify the structure, thickness, and movement of the aorta and each heart valve, enabling any potential heart-related complications to be detected and treated as soon as possible.

Some of the possible treatment options for the heart are described below.

Beta-blockers

People with Marfan syndrome are often prescribed a type of medicine called beta-blockers to help prevent damage to their heart. Beta-blockers are used to treat high blood pressure (hypertension).

However, most people with Marfan syndrome have low blood pressure (hypotension). In this case, beta-blockers help slow down your heart rate and decrease the strength of your heartbeat, which in turn helps to slow down any enlargement of the aorta.

If you can’t take beta-blockers, other similar medicines such as losartan or irbesartan may be recommended.

Surgery

If your cardiologist feels it’s necessary, you may need to have heart surgery to reduce your risk of developing life-threatening complications.

The most common type of heart surgery carried out on people with Marfan syndrome is an operation to replace a section of an enlarged aorta. This operation must be carried out before the aorta becomes too big.

You’ll have an echocardiogram every year to monitor the diameter of the aorta. Surgery will be considered when it measures between 4.5cm and 4.8cm (about 1.8-1.9 inches).

If your aorta is severely enlarged, the risk of it tearing or splitting (rupturing) during the operation will be too high for the benefits to outweigh the risks. Emergency surgery will be needed if your aorta ruptures or tears.

Eye problems

If you’ve been diagnosed with Marfan syndrome, you may be referred to an ophthalmologist, who will assess your eyes and vision.

You may also need to have an annual check-up to help identify any new developments. Eye problems associated with Marfan syndrome are potentially serious and may lead to a permanent loss of vision.

Some of the treatment options for eye problems are outlined below.

Cataracts

If you develop cataracts as a result of Marfan syndrome, you may need surgery to replace the clouded lens with an artificial one.

Cataract surgery is usually performed as keyhole surgery, through a very small cut, under local anesthetic.

Glaucoma

People with Marfan syndrome have a higher risk of developing glaucoma, a condition caused by increased pressure in the eyeball.

Once glaucoma has caused vision loss, it can’t be cured. Your eyes will therefore be carefully monitored to detect any signs of the condition.

Although glaucoma can’t be cured, it’s usually possible to prevent it getting worse. Treatment options include eye drops, laser treatment, or surgery.

Glasses and contact lenses

If you’re short-sighted, your vision can usually be corrected using glasses or contact lenses.

If the transparent structure at the front of your eye (the lens) is dislocated, specially designed glasses or contact lenses can sometimes be used to bend (refract) light around the dislocated lens.

In rare cases where a person’s vision is significantly affected, the lens may need to be replaced with an artificial one.

Surgical and other procedures

Depending upon your signs and symptoms, procedures might include:

• Aortic repair. If your aorta’s diameter enlarges quickly or reaches about 2 inches (5 centimeters), your doctor may recommend an operation to replace a portion of your aorta with a tube made of synthetic material. This can help prevent a life-threatening rupture. Your aortic valve may need to be replaced as well.
• Scoliosis treatment. For some children and adolescents, doctors recommend a custom-made back brace, which is worn nearly continuously until growth is complete. If the curve in your child’s spine is too great, your doctor may suggest surgery to straighten the spine.
• Breastbone corrections. Surgical options are available to correct the appearance of a sunken or protruding breastbone. Because these operations are often considered to be for cosmetic purposes, your insurance might not cover the costs.
• Eye surgeries. If parts of your retina have torn or come loose from the back of your eye, surgical repair is usually successful. If you have cataracts, your clouded lens can be replaced with an artificial lens.

Coping and support

Living with a genetic disorder can be extremely difficult for both adults and children. Adults who receive a diagnosis later in life may wonder how the disease will affect their careers, their relationships and their sense of themselves. And they may worry about passing the defective gene to their children.

But Marfan syndrome can be even harder on young people, especially because the often-inherent self-consciousness of childhood and adolescence may be exacerbated by the disease’s effect on appearance, academic performance and motor skills.

Psychological support

Being diagnosed with Marfan syndrome can sometimes be difficult to deal with emotionally. If your child has been diagnosed with the syndrome, you may be worried or upset about how it will affect them.

Speak to your doctor if you or your child are finding the diagnosis difficult to cope with. They may be able to put you in touch with a support group through the Marfan Foundation (http://www.marfan.org/), or refer you to a counseling service.

Young people with Marfan syndrome may develop low self-esteem because of their physical appearance. As the symptoms tend to be most apparent during the teenage years, a young person may find them difficult to deal with. Speak to your doctor if you’re concerned.

Working together, parents, teachers and medical professionals can provide children with both emotional support and practical solutions for some of the more distressing aspects of the disease. For example, children with Marfan syndrome may struggle in school because of eye problems that can be corrected with glasses or contact lenses.

For most young people, cosmetic concerns are at least as important as academic ones. Parents can help by anticipating these concerns and offering solutions:

• Contact lenses instead of glasses
• A brace for scoliosis
• Dental work for crowded teeth
• Clothes that flatter a tall, thin frame

In the long run, accurate information about the disease, good medical care and strong social support can help both children and adults cope with Marfan syndrome.

Lifestyle

It’s not usually necessary to make significant lifestyle changes if you have Marfan syndrome. However, a young person’s career choice may be restricted.

Keeping fit through regular moderate exercise and eating a healthy, balanced diet will help improve your overall health.

Sport

If you have Marfan syndrome, you may be advised to avoid certain sports. For example, some people may not be able to participate in contact sports like rugby.

Other activities that may need to be avoided include:

• long-distance running
• heavy weightlifting
• gymnastics
• climbing

These types of sporting activities can place a strain on your heart. They raise your blood pressure and heart rate, which may increase the risk of an aortic tear.

These activities also place a strain on your joints. As people with Marfan syndrome often have weak joints, their risk of sustaining a joint injury during these activities may be increased.

Your cardiologist will be able to give you more advice about which sports and physical activities are suitable for you.