Marfan Syndrome

February is American Heart Month and to raise awareness of the wide spectrum of heart conditions that affect individuals across the globe, lets talk about Marfan syndrome.

Marfan syndrome is a rare genetic condition that affects the connective tissue in the body. What is connective tissue? It is what holds us together while giving our body strength and flexibility! Connective tissue makes up our organs and tissues and allows them to properly function, grow, and develop. Bones, ligaments, muscles, blood vessels, and heart valves are all made of connective tissue. That is why Marfan can cause many different features.

What is Marfan? Marfan syndrome in most cases causes defects in the aorta, the largest artery leading from the heart. This is the large blood vessel that carries oxygenated blood from the heart to the rest of the body. This vessel can stretch and weaken leading to aortic aneurysm and potentially dissection. The dilation of the aorta may also cause the aortic valve of the heart to leak. Another key feature of Marfan is a dislocated lens in one or both eyes.

Often no two people with Marfan will experience the same features. Some of these features include:

• Tall and slender build

• Long fingers and toes

• Arm span greater than their height

• Long and narrow face

• Crowded teeth

• Scoliosis

• Sunken or protruding chest

• Nearsightedness

• Cataracts and glaucoma

• Flat feet

• Stretch marks

• Flexible joints

• Sudden lung collapse is possible

Onset and severity can vary greatly person to person. In addition, Marfan can present itself in several other ways these are the most common findings.

What causes Marfan syndrome? A genetic change in the FBN1 gene. This gene provides instructions for making essential proteins of connective tissue. These changes can run in families, but in 25% of cases this change is spontaneous and occurs for the first time.

How many people are affected by Marfan? Approximately 1 in 5,000 people worldwide have Marfan. It occurs in men and women across all races and ethnic groups.

If Marfan syndrome or a similar condition is suspected it is important to seek medical advice. A detailed medical and family history, physical exam, echocardiogram (an ultrasound of the heart), EKG (recording of the electrical pulses of the heart), eye exam, and CT or MRI scans can help diagnose Marfan.

What can we do? There is no cure for Marfan, but with careful monitoring and medical management these individuals can prevent and treat symptoms of the condition. Often blood pressure lowering drugs are prescribed to reduce stress on the arteries. Also, surgical repair of the aorta, scoliosis, and eyes can provide treatment of these conditions.

Individuals with Marfan with proper treatment can lead usual lives. Frequently these individuals go on to have their own families and lead successful lives.

Faces of Marfan

Pictured from left to right: Isaiah Austin, Abraham Lincoln, and a little girl showing her long arms!

If you are interested in learning even more please visit the Marfan Foundation website at:​​ This is a clip from the film ‘In My Hands: A Story of Marfan Syndrome.’

February is not only American Heart Month, but it is Marfan Awareness Month as well! Happy Valentine’s Day and always remember to Take Heart!

Courtney Whitmore is a genetic counseling graduate student at the University of South Carolina Genetic Counseling Program. Find a genetic counselor at Palmetto Health USC Genetic Counseling or feel free to contact us at 803-545-5775 or genetics@uscmed.sc.edu. We look forward to serving you!