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- Sun Aug 12, 2007 12:39 am
My father was diagnosed with hypertrophic Obstructive cardiomyopathy (HOCM). Because of 'genetic nature' or high hereditary likelihood, His cardiologist was insistent that every child and grandchild be tested by echo.
To date every child has been tested and all but one of the grandchildren. For some reason, my daughter's pediatrician did not feel it was reasonable to perform the test.
While everyone is still negative - my sister (43) did show up with some enlargement and evidence of a previous heart event (ekg). my brother also had some anomalies.
My daughter (18) is overweight, with cholesterol and blood pressure issues intermittently.
Should I pursue the echo with another physician or simply let it go?
| Dr. Chan Lowe
- Sat Aug 18, 2007 12:57 am
HOCM is typically inherited in an autosomal dominant pattern. Other cases are from spontaneous mutations of the involved genes.
With autosomal dominant inheritance there is essentially a 50% chance that any children could have the disease. It is for this reason that it is recommend that all direct relatives be screened.
If it has not appeared in the parents it is less likely to appear in the grandchildren as it would be presumed that the parents did not get the affected gene and they are spared the disease. An exception would be that the parent may not have developed symptoms yet and may still be able to pass on the gene.
So, there are a few ways to look at it. If the child's parents do not have the disease the chances of it being passed on it is small so the grandchild may not need to be screened.
On the other hand it is perfectly reasonable to have the child screened also since it is relatively simple.
Really, it comes down to your comfort level with the risk. The risk is low but some people need to know.