General heart evaluations…

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sarahsunshine

Well-known member
Joined
Aug 8, 2011
Messages
387
Location
Canada
In all my research over Skyler’s heart surgery, I discovered that contrary to what I had been told in the past, that there is a genetic component to most heart defects. Several of these studies suggested having family members evaluated. Of course, none of Skyler’s doctors has ever mentioned it.

Does anyone know where this can be done? (in Canada)
 
SOME CHDs are definately "genetic' and may run in families,others are more random and might have ben caused by environmets ot combo of things. If you are asking about basic screening like Echos, ask Skyler's ped cardiologist.

There are tests that can be done for some specific CHDs or for the most part syndromes that include CHDs, like di george ect that has a problem with chromsome 22q deletion, but only few (of the 35 different CHDs) been discoverred , IF you are asking about genetic testing, blood or mouth swab type of tests.

Many others they haven't found anything that is genetic, but there are alot of centers working hard to find things. for example our family (both sides) have a history of CHDs some very complex CHD, that were fatal as babies, and children and others like Justin needed several surgeries as children. The Cardiac research lab at CHOP was very interested in getting samples from all the living children with CHD, their parents, siblings Grandparents to see IF they could find and genetic link, but all the testing came up "normal" Our case was rare (wanting so many family members) because they were hoping to learn or discover something from our family.
Usually they do genetic testing to confirm or rule out a diagnosis if the child has several features of a symdrome.
I believe normally they would do the genetic test the child/adult with CHD and if they find a known problem then they would test siblings and parents ect. But If it is normal they usually dont.

I would start with the ped card or ask about any research they are doing at their research lab, if they have one.
 
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