Marfan Syndrome

Marfan syndrome is an inherited condition that runs in families. It happens because of a mutation in a gene called FBN1. The mutation makes it hard for your body to make proteins that build connective tissue. This weakens the connective tissue that supports your organs and other parts of your body.

Marfan syndrome can make the tissues in your aorta and heart valves become weak and lose flexibility. When this occurs, it the aorta can expand in a similar fashion as a balloon, a condition commonly referred to as an aortic aneurysm. This can also affect the functioning of your heart valves, preventing them from closing properly. This means your aortic valve may not be competent enough to keep blood from flowing backward. This is called regurgitation. Regurgitation can cause the heart to have to work harder. 

Some conditions look like Marfan syndrome. Even in the same family, it can show up differently in different people. This can make it hard to diagnose.

Doctors look for specific combinations of signs, symptoms and family history to confirm Marfan syndrome. Some patients might have some signs of it, but not enough for a diagnosis.

If Marfan syndrome is suspected, your doctor might order tests including:

• An echocardiogram
• CT scan
• Eye exams
• MRI

Our team of doctors, surgeons and heart specialists at Emory Healthcare is here to support you and your family. They’ll help you determine how Marfan syndrome is impacting your health, and then create a personalized plan for your treatment and recovery. 

Genetic testing can confirm Marfan syndrome and help check if family members might have it, too. Talking to a genetic counselor before having kids can help you understand the chances of passing Marfan syndrome on to them. 

Some signs of Marfan syndrome include:

• Fatigue
• Pain in the chest
• Trouble breathing or shortness of breath

Marfan syndrome may also cause mitral valve prolapse. This is where one of the valves in the heart doesn't close properly. It can cause blood to flow the wrong way, making the heart work harder.