Behind Marfan Syndrome

[Guest guest]

http://www.ivanhoe.com/channels/p_channelstory.cfm?storyid=6920

Reported September 8, 2003

Behind Marfan Syndrome

NEW ORLEANS (Ivanhoe Newswire) -- Marfan syndrome is a genetic disorder

that, until recently, was thought to affect one in 10,000 people. Brand new

data now suggests the condition is much more common. With diagnosis and

treatment, patients often live long lives, but if they don¹t know they have

it, they¹re at high-risk for sudden death. Here's what you need to know

about the condition.

At 18, Mahony was told he had Marfan syndrome -- a potentially deadly

disorder of connective tissue, affecting the skeleton, eyes, heart and blood

vessels. He says: ³You feel like you¹re never going to die when you¹re 18

years old. It really didn¹t scare me.²

But two months after he and Alesia married, he almost did die -- from a

dissected aorta, a consequence that pediatric cardiologist Moodie,

M.D., says is often fatal. ³They either dissect their aorta or tear it, or

they rupture it, and if that happens, you will be dead within seconds,² says

Dr. Moodie, of Ochsner Clinic in New Orleans.

That was the case with volleyball Olympian Flo Hyman in 1986. Marfan

patients are usually very tall, have long fingers and toes, have loose

joints, and flat feet. Their tall stature is what pushes many into sports.

Dr. Moodie says, ³What causes that sudden death is, during the stress of

that athletic activity, a rupture or tear of the aorta.²

Once diagnosed, patients are put on beta-blockers to protect their aorta.

Diagnosis is made with heart tests, physical appearance, and a slit-lamp eye

exam. The biggest hallmark of Marfan¹s is lens dislocation. It¹s also

hereditary.

All three of ¹s kids have it and are on beta-blockers. Alesia says,

³They lead a basically normal life. With their medications, they probably go

to the doctor¹s a little more than most kids.² ³I don¹t look any different,

except that I¹m a little skinnier and a little taller than most kids,² says

Mahony. But he does have one talent his friends don¹t have -- he's a

contortionist!

Men and women are affected equally. Dr. Moodie emphasizes that lens

dislocation is the strongest clinical marker to detect the condition. When

was diagnosed, the average age of death for a patient was 28. Today,

the life expectancy for a person diagnosed has increased to over 70.

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If you would like more information, please contact:

Moodie, M.D.

Ochsner Clinic Foundation

1514 Jefferson Highway

New Orleans, LA 70121

http://www.ochsner.org