Understanding Marfan Syndrome (MFS): Causes, Symptoms, and Management

What is it?

Marfan syndrome is a genetic condition that affect connective tissue that can be found in the heart, eyes, blood vessels and skeleton. People with Marfan syndrome tend to be tall and thin with long arms and legs. If the condition affects the aorta, which is the biggest blood vessel, carrying the blood from the heart to the rest of the body, it could be life threatening. There may also be heart, eye, and skeletal complications.

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Signs & symptoms

Marfan symptoms vary from patient to patient but may include tall and slender build, disproportionate long arms, legs and finders, abnormal breastbone appearance, a high and arched palate with crowded teeth, heart murmurs, extreme nearsightedness, abnormally curved spine, and flat feet.

Diagnosis

Marfan is not easy to suspect, but when the suspicion arises genetic testing may confirm the diagnosis. Heart tests like an echocardiogram, and CT an MRI imaging scans to show the blood vessels. Eye test including slit-lamp examination and eye pressure test may be needed.

Treatment

There is no cure for Marfan syndrome, but the treatment focus is to prevent complication that may occur. Medications like blood pressure lowering drugs are suggested to prevent the enlargement of the aorta, thus reducing the risk of dissection and rupture. Sometimes, aorta surgery is required to replace a portion of it with a tube. Other surgeries for scoliosis, breastbone correction and eye surgeries are sometimes needed.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:

National Institution of Health ∙ World Health Organization ∙ University of Illinois hospital