Back to Conditions and TreatmentMarfan Syndrome
What is Marfan Syndrome?
Marfan syndrome is a disorder of the connective tissue (such as ligaments) that supports all of the body´s structures, such as the skeleton, nervous system, heart and other vital organs. Marfan syndrome can lead to life-threatening heart conditions and other serious health problems.
Causes
Marfan syndrome is caused by a defect in a certain gene (fibrillin-1) that helps form the body´s elastic tissue, weakening the tissue.
Risk Factors
The major risk factor is a family history of Marfan syndrome — in most cases, patients are born with the syndrome, which is inherited through their genes.
What are the Symptoms?
Marfan syndrome can affect people — even from the same family — in very different ways. Some common symptoms include:
- Arms, legs, fingers and toes that are disproportionately long compared with the rest of the body
- Long, narrow face
- Crowded teeth
- Protruding or indented breastbone
- A curved spine (scoliosis)
- Flat feet
- Dislocated eye lens
- Nearsightedness
- Heart murmur
- Heart valve problems
- Abdominal pain
- Pain, weakness or numbness in the legs
- Stretch marks on the skin
- Collapsed lung not caused by trauma
- Emphysema with no history of smoking
- Sleep disorders such as snoring and sleep apnea
- Swelling of the spinal-cord covering
How is Marfan Syndrome Diagnosed?
- Physical exam: A physical exam to check for Marfan syndrome includes an eye exam and a check for abnormally long arms and legs.
- Echocardiogram: An exam that evaluates the structure and function of the heart, arteries and other structures in the chest through sound waves recorded on an electronic sensor.
Treatment at UVA's Heart and Vascular Center
Treatment will depend on how Marfan syndrome is affecting the body and will focus on the symptoms caused by the syndrome. Surgery or medication may be needed, for instance, to treat heart-valve problems caused by Marfan syndrome. In other cases, a patient may require more frequent visits to a doctor to check for any problems caused by Marfan syndrome.