Marfan syndrome

Down syndrome and heart disease
April 20, 2013
June 3, 2013

Do you know the signs of Marfan syndrome? It is a connective tissue disorder that can involve many parts of the body, including the heart.  If left undetected, it could result in life threatening problems such as aortic dissection (a tear in the wall of the biggest artery in the body).   

Marfan syndrome occurs equally in males and females, and all ages can be affected. There are many outward physical attributes that suggest the presence of Marfan syndrome.  These findings include tall stature with a short torso, long arms and legs, long fingers, a chest bone that caves inward or bows outward, and scoliosis.  Also, the skin can show stretch marks and someone with Marfan syndrome may have flat feet or hammer toes.

These outward changes can signify major inward changes in your heart valves or blood vessels.  If Marfan syndrome is suspected in a child or young adult, that patient is often sent to a pediatric cardiologist for an echocardiogram.  We would look for mitral valve prolapse and enlargement of the aorta.  

Sometimes, patients can benefit from an evaluation by a geneticist.  There is a blood test for Marfan syndrome but it is not perfectly reliable.  

Talk to your doctor if you are concerned that your child may have Marfan syndrome.  You may also find the website for the National Marfan Foundation helpful.

Peter Chang, DO

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