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What is Marfan syndrome? -

Marfan syndrome is an inherited condition that affects connective tissue—the tissue that supports other tissues and organs in the body.

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Signs and symptoms -

Signs and symptoms vary, depending on the person. These can be pretty mild or more accentuated. One of the most common signs is having a tall and slender build.

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Signs and symptoms -

In addition to being tall and thin, some individuals also have long fingers, a curved spine (scoliosis), and flat feet.

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Signs and symptoms -

Other signs include a protruded breastbone or an indented breastbone. A high-arched palate and/or crowded teeth are also common.

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Signs and symptoms -

Individuals with Marfan syndrome may suffer from severe nearsightedness (myopia), as well as having heart murmurs.

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Causes -

Marfan syndrome is caused by an abnormality in a gene that signals the body to produce a protein that helps the formation of connective tissue. This protein is responsible for the connective tissue’s strength and elasticity.

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Causes -

The gene is usually inherited from a parent, but it can sometimes be a spontaneous new mutation. In which case, the parents don’t carry the gene.

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Risk factors -

Marfan syndrome seems to affect men and women equally, as well as people across all races and ethnicities. The greatest (and single) risk factor is having a parent who carries the gene.

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Cardiovascular complications -

Connective tissue is very important in supporting organs, and this includes the heart and blood vessels. The aorta, in particular, can be weakened by faulty connective tissue. This can lead to a number of serious complications. Let’s take a look at some of these.

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Aortic aneurysm -

The pressure of blood being pumped by the heart can cause the wall of the aorta to bulge out like a balloon.

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Aortic dissection -

This happens when the innermost layer of the aorta's wall tears. This will then allow blood to pass from the inner to the outer layers of the aorta wall. Aortic dissection is usually painful and it can lead to a rupture, which may cause death.

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Valve malformations -

The condition can weaken the tissue in the heart valves, which can lead to malfunction, causing the heart to work harder to compensate for the faulty valves. The consequence can be heart failure.

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Eye complications -

In addition to the cardiovascular system, the eyes are one of the organs that can be affected by Marfan syndrome. Here are some of the most common complications.

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Lens dislocation -

Ectopia lentis is when the eye's focusing lens moves out of place. This is caused by a weakened supporting structure, and it’s very common in people with Marfan syndrome, affecting over half of sufferers.

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Retinal issues -

The risk of a tear or detachment in the retina is also higher in people with Marfan syndrome.

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Early-onset glaucoma or cataracts -

Both glaucoma (where pressure can damage the optic nerve) and cataracts (cloudy patches in the eye’s lens) can affect people with Marfan syndrome. They also tend to develop these earlier in life when compared to non-sufferers.

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Skeletal complications -

As mentioned previously, those with Marfan syndrome may suffer a wide range of skeletal complications, namely scoliosis (curved spine), protruded or sunken chest, as well as feet and lower back issues.

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Pregnancy complications -

Women with weakened aorta walls are at higher risk of a fatal rupture, as the heart pumps more blood during pregnancy, adding extra stress.

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Diagnosis -

Diagnosis may prove difficult; not only do the signs and symptoms vary greatly between individuals, but also because the symptoms are very similar to those of other connective tissue disorders.

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Heart tests -

An echocardiogram is usually performed when there is a suspicion that a person has Marfan syndrome. This may be followed by computerized tomography (CT) scans and magnetic resonance imaging (MRI). The exams will show the condition of the aorta and any abnormal changes.

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Eye tests -

A slit-lamp exam may also be performed to look for lens dislocation, cataracts, or other retinal problems.

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Eye tests -

To check for glaucoma, an eye pressure test may also be prescribed by the doctor.

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Genetic testing -

Ultimately, this is the most reliable way to confirm the diagnosis of Marfan syndrome. If the gene mutation is identified, family members are usually tested as well.

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Treatment -

There is no cure for Marfan syndrome as such, but monitoring and managing any possible complications can help increase quality of life.

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Medications -

A physician may prescribe drugs to lower blood pressure to help prevent the aorta from enlarging and rupturing.

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Aortic repair -

Some signs and symptoms, as well as complications, may require surgical intervention. An aortic repair might need to be performed if the aorta enlarges too much or too soon.

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Scoliosis -

Most people don’t get surgery for scoliosis, but sometimes it is required. Bracing is sometimes needed, as well as strengthening and mobilization of the tissues that support the spine.

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Breastbone corrections -

Surgical cosmetic corrections can be made to both protruded or indented breastbones.

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Eye surgeries -

Some eye complications, such as cataracts or a torn/detached retina, often require surgical intervention.

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Living with Marfan syndrome -

Living with Marfan syndrome has its limitations. For instance, sports that put a lot of strain on the aorta may not be an option.

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Living with Marfan syndrome -

Parenting may also become an issue, as there is a risk of passing the defective gene to the child.

Sources: (Mayo Clinic) (NHS) (The Marfan Foundation)

See also: Stars who suffer from rare diseases

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