What is Marfan syndrome?

Marfan syndrome (MFS) is an inheritable genetic defect of the connective tissue- the fibres that anchor and support your organs and other structures in your body.  MFS most commonly affects your eyes, heart, blood vessels and skeleton.  People affected by MFS are usually thin and tall with disproportionately long arms, fingers, legs and toes.  The condition becomes life threatening if your aorta- the large artery that carries blood from your heart to the rest of the body- is affected.

It is estimated that MFS affects 1 in 5000 people.  MFS affects women and men equally and occurs mong all races and ethnic groups.  As it is a genetic condition, having a parent with the condition, increases your risk of inheriting the condition.

The management of MFS usually includes the use of medications to lower your blood pressure to reduce the stress on your aorta.  Unfortunately, a majority of people affected by MFS eventually require preventive surgery to protect or repair the aorta.

What are the causes and risk factors for Marfan syndrome?

MFS occurs when there is a defect in the gene that allows your body to produce a certain protein that give connective tissue its elasticity and strength.  MFS is a genetically inherited disorder and each child of an affected parent has a 50% chance of inheriting the defective gene.  However, in 25% of people affected by MFS, the defective gene does not come from their parent but the new mutation develops spontaneously.

MFS affects women and men equally and occurs mong all races and ethnic groups.  As it is a genetic condition, having a parent with the condition, increases your risk of inheriting the condition.

What are the signs and symptoms of Marfan syndrome?

The signs and symptoms of MFS vary significantly, even among affected family members.  Some people may have mild symptoms but others may develop life-threatening complications.  Unfortunately, MFS worsens with increasing age.  The signs and symptoms of MFS include:

• Tall and thin body.
• Disproportionately long arms, fingers, legs and toes.
• A breastbone that dips inwards or protrudes out outwards.
• Heart murmurs.
• Crowded teeth.
• A high, arched palate.
• Flat feet.
• An abnormally curved spine.
• Extreme near-sightedness.

Making a diagnosis

To make a diagnosis, your doctor will first take a detailed history from you to know more about your symptoms.  After the history taking, your doctor will perform a thorough physical examination to look for signs of MFS.  To confirm the diagnosis, your doctor will order some tests and these include:

• Laboratory studies: There is no specific laboratory test that exist with which to make the diagnosis of MFS.  However, molecular genetic testing (MGT) can be performed to assist in making the diagnosis.  In addition, MGT can be used to test other undiagnosed family members of an affected individual.

• Radiography: Radiography of the hands may demonstrate the typical finding of arachnodactyly (fingers which are long and slender).  In addition, spine radiographs may demonstrate an abnormally curved spine.
• Heart tests: An echocardiogram is done to check whether your heart valves and size of your aorta is normal.  This test uses sound waves to produce real-time images of your heart in motion.  Your doctor may also perform other tests to analyse your heart such as Computed Tomography (CT) scans and Magnetic Resonance Imaging (MRI) scans.  In addition, your doctor will perform an electrocardiogram to detect any cardiac dysfunction as 80% of people affected by MFS develop cardiac dysfunction over the course of their lives.
• Eye tests: Your doctor may measure the size of your cornea to determine whether it is larger than normal.  In addition, your doctor will measure the pressure of inside your eyeball using a special tool.

What are the treatments of Marfan syndrome?

Unfortunately, there is no cure for MFS.  However, there are treatments available that may prevent the development of complications.  In the past, people affected by MFS often died young.  With modern treatment, a majority of people with MFS live a more normal life span.

Your doctor will give medications to lower your blood pressure so as to reduce the stress on your aorta.  This will prevent the aorta to enlarge and therefore reduce the risk of dissection or rupture.

Problems with vision may be corrected using glasses or contact lenses.

In addition to medications, there are several surgical procedures that may be performed and these include:

• Aortic repair: If your aorta enlarges rapidly or its diameter reaches 50 millimetres, your doctor may perform an operation to replace the damaged part of the aorta with a tube made of synthetic material.  This surgery may help preventing a life-threatening rupture of the aorta.
• Breastbone corrections: Your surgeon may do an operation to correct the appearance of the breastbone.  This surgery is mainly done for cosmetic purposes.
• Abnormally curved spine (scoliosis) correction: When the spine is excessively curved, your surgeon may suggest the use of braces or surgery to correct it.
• Eye surgeries: If you have cataract, your eye surgeon may replace the clouded lens with an artificial lens.  In addition, if some part of your retina become loose, it can be repaired surgically.

What are the complications of Marfan syndrome?

If Marfan syndrome is left untreated, the following complications may ensue:

• Cardiovascular complications: The faulty connective tissue can weaken your aorta leading to aortic aneurysm, aortic dissection or valve malformations.  Aortic aneurysm is when the wall of the aorta bulges out, like a weak spot in a football.  Aortic aneurysm occurs when a small tear in the innermost layer of the aorta’s wall allows blood to enter in between the inner layer and outer layers of the wall.  This causes the diameter of the aorta to decrease and severe chest pain.  Valve malformations occurs due to the defective connective tissue, resulting in abnormal valve function.

• Eye complications: The eye complications associated with MFS include retinal problems, lens dislocation, cataracts and glaucoma (increased pressure within the eyeball).
• Abnormal spine curvature (scoliosis).

Expectations (prognosis)

Due to improvement in the management of the cardiovascular manifestations of MFS, there has been a significant decrease in the morbidity and mortality associated with the condition.  Unfortunately, the most common cause of death in people with MFS is cardiovascular compromise.  Seeking medical advice early is key to prevent the onset of complications and increase your longevity.

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