MTHFR and Cardiomyopathy

[coolbu20]

I am MTHFR 677TT.  During my pregnancies, I was required to take shots of Lovenox and take a baby aspirin.  My first two live births were two girls.  No major issues.  They were both IUGR babies, but have been heathly since birth (They are 33 months and 22 months now.)  My third live birth was 9 months ago and he was diagnosed with Dilated Cardiomyopathy at 11 days old.  I was wondering if my gene mutation has anything at all to do with his condition.  They are talking about it being a IEM, but I'm not sure if that would include any consideration of my gene mutation.  They currently have no cause for him.Thanks.

[rjthkids]

Hello,

I also have the MTHFR mutation. My understanding from the research is that some congenital heart defects like VSD can be positively associated with the low folic acid levels caused by untreated MTHFR and corresponding high homocysteine levels. My second child did have VSD, ASD, WPW syndrome and at the time I did not have good homocysteine control during her pregnancy. My first birth was also an IUGR baby and my third I have had good B vitamin control and normal homocysteine levels and this baby is a few weeks away from being born and is estimated at over 8 1/2 lbs with no birth defects.

I have not heard if MTHFR is associated with cardiomyopathy. If so, it would be due to the clotting disorder/poor folic acid levels than the gene mutation itself, as the gene mutation (as it has been explained to me) does not cause defects, but it is the consequences of the mutation that does.

[grendslori]

It is also very important for parents to realize that congenital heart defects are VERY common in babies; one in every 100 births result in a birth defect. That vast majority are not related to genes. Had your son had Hypertrophic Cardiomyopathy (which is the opposite of the type he has) the gene factor could be a major one and result in the development of HCM.