About Marfan Syndrome

What is Marfan syndrome?

Marfan syndrome is a genetic disorder that affects the connective tissue in the body—tissue that supports and maintains the shape of the body. Connective tissue includes bone, cartilage, and skin, as well as many types of tissues that support blood vessels and organs of the body.

Marfan syndrome is genetic, meaning that only people born with a genetic mutation of the gene Fibrillin-1 will develop the condition. Seventy-five percent of people born with Marfan syndrome inherit the gene mutation from a parent. In about 25 percent of people with Marfan syndrome, the condition is the result of a new mutation.

Because connective tissue is found throughout the body, Marfan syndrome and related disorders can affect many parts of the body. People with Marfan syndrome are at risk of developing heart problems, especially enlargement of the aorta, the large blood vessel that carries blood away from the heart to the rest of the body.

People diagnosed with Marfan syndrome are usually tall and slender, and can have unusually long extremities and fingers, flexible joints, and an arm span that exceeds their body height.

Symptoms of Marfan Syndrome

Marfan syndrome is a congenital disorder, meaning that people are born with it. However, the symptoms are not always present at birth. People with Marfan syndrome can develop symptoms at any point in their lives, including aortic enlargement, and symptoms will present differently for each person with Marfan syndrome.

Because symptoms worsen over time, it's important to recognize the symptoms as early as possible and begin treatment. Some of the more recognizable symptoms in children with Marfan syndrome are:

• Long arms, legs, fingers, and toes
• Long and narrow face
• Flexible joints
• Curved spine
• Chest sinks in or sticks out
• Crowded teeth
• Flat feet
• Unexplained stretch marks on the skin

Less apparent are heart issues, including aortic aneurysm, in which the aorta bulges or ruptures; aortic dissection, in which the aortic wall tears; and mitral valve disease, in which the valves of the heart don't close properly. Other symptoms include lung collapse due to a small chest cavity, and vision disorders which can include severe nearsightedness, dislocated lens, glaucoma, or early cataracts.  

Each symptom alone is not necessarily a sign of Marfan syndrome. If you note symptoms of Marfan syndrome in your child, it is important to have your child evaluated by a physician who has experience with genetic disorders.

How is Marfan syndrome diagnosed?

A member of our Marfan team will obtain a detailed family history and complete a physical examination of your child. If Marfan syndrome is suspected, your physician will complete a series of diagnostic tests that may include:

• Electrocardiogram (ECG or EKG): records the electrical activity of the heart to detect abnormal rhythms (arrhythmias or dysrhythmias)
• Echocardiography (echo): evaluates the structure and function of the heart
• Eye examination: looks at the interior of the eye using a device called a slit lamp
• Magnetic resonance imaging (MRI) or computerized tomography (CT): produces images of internal tissues, bones, and organs
• Genetic testing: useful when there is a family history of Marfan syndrome or when other tests are not conclusive. Genetic testing alone cannot diagnose Marfan syndrome.

Your physician will make a diagnosis of Marfan syndrome only if your child exhibits a significant number of symptoms from a detailed list. Family history is also taken into consideration when diagnosing Marfan syndrome.   

How is Marfan syndrome treated?

Treatment for Marfan syndrome depends on the symptoms your child is exhibiting. Treatment may include:

• Monitoring
• Medication
• Lifestyle modifications
• Surgery 

Because aortic enlargement is a life-threatening complication of Marfan syndrome, your child will need frequent monitoring by a cardiologist to evaluate aortic size. 

Marfan Treatment at Columbia

Resources for Marfan Syndrome and Related Disorders

If you have a child with Marfan syndrome or a related disorder is important to educate yourself about the disease. Visit the Marfan Foundation website to find extensive information about connective tissue disorders.