O/T Medical question Marfan Syndrome |
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O/T Medical question Marfan Syndrome |
spare time toys |
Dec 25 2007, 04:19 PM
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#1
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hooked on grilling food. Group: Members Posts: 4,059 Joined: 3-April 04 From: West Plano Tx Member No.: 1,884 Region Association: Southwest Region |
Does anyone here have a relative with this? Our little girl has been diagnosed with it. They did the echocardio and she has a slight enlarging of the aorta. They said to come back in a year and they will remeasure, I just want to know how this changes things if you have it in your house? She is just not suposed to play high impact sports.
Thanks for any info. -Larry |
echocanyons |
Dec 25 2007, 10:20 PM
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Advanced Member Group: Benefactors Posts: 2,094 Joined: 24-December 02 From: Bay Area, CA Member No.: 7 Region Association: Central California |
Phenotypically speaking there are half a dozen other diagnoses that are similar to Marfan's.
Marfan's has a spectrum (mild-to-severe) as do many other syndromes. There are a number of clinical findings that are consistent with Marfan's, (wingspan, joint mobility, etc) is this how they have come to the diagnosis? Are there other family members afflicted? I would wait for the genetics as this is most solid evidence. From a heart stand point if the diagnosis sticks she would be likely be steered away from competitive sports and have yearly evaluations to exam the aortic root size and growth. Long term quality of life is generally good but there does exist the possibility of aortic root replacement. This likely would never come as a complete surprise and is usually scheduled electively for prophylactic reasons (to prevent aortic root rupture and sudden death). My advice, see a geneticist and a pediatric cardiologist. |
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