A genetic disorder that damages connective tissue

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Connective tissue is made up of fibers that hold your body together and provide support to your heart and other structures. Marfan syndrome is result of a defect in the gene that allows your body to produce the protein that forms these connective tissues and causes abnormal elasticity or weakness in those tissues.

Marfan syndrome can be mild or severe, depending on the connective tissue that is affected. Severe heart complications of Marfan syndrome include:

One of four people with Marfan syndrome did not inherit the abnormal gene but instead developed the mutation spontaneously. Children with a parent with Marfan syndrome have a 50 percent chance of inheriting the defective gene. If you or a family member has been diagnosed with Marfan syndrome, talk to your doctor about whether you should consider genetic testing.

What are the symptoms of Marfan syndrome?

The symptoms of Marfan syndrome vary, even among family members, and depend on the severity of the condition. They can be present at birth or develop as you age. However, people with Marfan syndrome often share some physical features, such as:

  • Abnormally long arms, legs or fingers
  • Breastbone that is indented or protrudes outward
  • Curved spine
  • Flat feet
  • Higher-than-normal roof of the mouth, causing the teeth to be crowded
  • Long, narrow face
  • Poor eyesight
  • Tall, slender build

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Tests

Marfan syndrome can resemble other disorders and often requires multiple specialties to assess your condition before a diagnosis can be made. If you are diagnosed with Marfan syndrome, your doctor may recommend regular echocardiograms to monitor abnormalities.

Angiogram (Angiography)

An angiogram is a special X-ray taken as a special dye is injected through a thin, flexible tube called a catheter to detect blockages or aneurysms in blood vessels.

Arterial Duplex Ultrasound for Arms and Legs

Arterial duplex ultrasound uses Doppler and traditional ultrasound to assess blood flow in the arteries of your arms and legs.

Cardiac Catheterization

Cardiac catheterization is a minimally invasive way to diagnose and treat a variety of heart and vascular conditions by guiding thin, flexible tubes called catheters through blood vessels to problem areas.

Computerized Tomography (CT) Scan

The cardiac computed tomography scan, or cardiac CT, uses X-rays to create three-dimensional images of your heart and blood vessels.

Echocardiogram

An echocardiogram uses high-frequency sound waves to create images of your heart.

Pulse Volume Recording

Pulse volume recording tests are used to evaluate blood flow through the arteries in your arms or legs.

Treatment

Although Marfan syndrome is a chronic (lifelong) condition, treatment options are available to minimize symptoms and prevent the serious complications of the disease. Your doctor will work with other specialties to develop a treatment plan for your unique set of heart symptoms and risks.

Aortic Surgery

Aortic surgery describes a variety of procedures to treat conditions that affect the aorta.