Marfan Syndrome

What is Marfan syndrome?

Marfan syndrome is an inherited disorder that affects the connective tissues in the body, which are the fibers that support and anchor the organs and other structures in the body, most commonly, the heart, eyes, blood vessels, and skeleton. Because of this nature of the disease, the biggest threat of Marfan syndrome is damage to the aorta.

What causes Marfan syndrome?

Marfan syndrome is caused by a defect in a gene that enables the body to produce a protein that helps give the connective tissue its elasticity and strength. This abnormal gene is inherited from a parent who has the disorder, but in some cases, the new mutation can develop spontaneously in a patient. There are no additional risk factors for developing Marfan syndrome.

What are the symptoms of Marfan syndrome?

The signs and symptoms of Marfan syndrome vary greatly, from mild to life-threatening, even among patients in the same family. The characteristic features of Marfan syndrome include:

Tall and slender build
Disproportionately long arms, legs, and fingers
Protruding or dipping breastbone
High, arched palate and crowded teeth
Heart murmurs
Extreme nearsightedness and other eye complications
Abnormally curved spine
Flat feet

How is Marfan syndrome diagnosed?

An echocardiogram is one of the first tests that a healthcare provider will conduct to check the condition and size of the heart valves. In addition to this, CT scans, MRI scans, and eye tests may also be done to evaluate the patient’s overall condition. If further confirmation of Marfan syndrome is needed, genetic testing can be done.

What are the available treatments for Marfan syndrome?

Because there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. These symptomatic and supportive treatment options include: