Marfan Syndrome
- Symptoms
What are the features of Marfan syndrome?
While Marfan syndrome may be present at birth, some symptoms develop gradually over a number of years. The severity of symptoms varies from person to person, even among affected family members.
The main features include:
Cardiovascular (heart and blood vessels). Weakening and stretching of the blood vessels can occur. This applies in particular to the aorta (the main blood vessel carrying blood away from the heart) and increases the risk of aortic aneurysm, dissection or rupture (bursting).
The heart’s valves may also be affected. The most common condition is mitral valve prolapse (MVP). In MVP, the valve leaflets become floppy and do not close tightly. This can cause leakage of blood backwards across the valve. This is known as mitral regurgitation (MR). If mitral regurgitation progresses and is left untreated, it can eventually cause heart failure.
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Lungs. Asthma, emphysema, pneumothorax (collapsed lung)
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Skeleton. Tall and thin with long arms, legs, fingers and toes. Flat feet, protruding or indented chest bone, loose joints, scoliosis and skin stretch marks.
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Eyes. Dislocation of lenses, myopia (shortsightedness), retinal detachment, glaucoma
- A family history of Marfan syndrome in a parent, sibling or child
When should you see a doctor?
Seek medical attention if there is:
- Chest pain or breathlessness
- Sudden blurring of vision
- Joint pain
