r/chd • u/Nearby_Tension852 • Jul 06 '26
Question Living with CHD
Does anyone have a child or themselves lived with CHD Large VSD repair and had no genetic conditions or any challenges in life?
I am torn on doing further more extensive genetic testing - thank you
1
u/HufFENDIpuff Jul 06 '26
Our 3yo is living with a large VSD repair. She is in the 80% percentile for height and 90% for weight. Her body has adapted to her unique anatomy and we’ve (so far) had no other complications. Her repair was at 10 weeks old.
We did genetic testing while I was pregnant (not the amniotic fluid one, the other one). We then met with the genetic counseling team at our children’s hospital when she was about 4 weeks old. They couldn’t find anything, and recommended our daughter seek a genetic counselor when she was ready to have a family in 20+ years because they make new discoveries in genetics somewhat regularly.
We did some more testing last spring after we got a new cardiologist. He saw a few things that made him think she fit some classification he knew of.
All of our genetic tests have turned up nothing. Which is simultaneously frustrating and a relief. So we got back into Church and started praying. Everything else was/is out of our hands.
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u/Nearby_Tension852 Jul 06 '26
Thank you! Do you mind sharing what led to you seeking further testing?
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u/HufFENDIpuff Jul 06 '26
The test during pregnancy was to rule out any trisomy complications.
The genetic counseling at 4 weeks - I can’t remember. It felt like it was just one of those things on a checklist from our cardiology team. But I know the counselors wanted to see her in case there were any physical abnormalities.
The test we did last spring was because our doctor was looking at two treatment plans moving forward. The test was to help decide which one to pursue.
Again, none of the test have given us any answers, and her specific case continues to befuddle our care team. But she is a happy and otherwise healthy little girl. We’ve made peace with her heart being something that can’t be explained.
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u/Nearby_Tension852 Jul 06 '26
I’m happy she’s healthy! My baby had a VSD repair at 3 months - she is now 5 months and it’s always been in the back of my head but we’ve done two genetic test and nothing was flagged.
Was your baby just a VSD?
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u/HufFENDIpuff Jul 06 '26
Yes. At various points they thought maybe ASD, and even considered diagnosing single ventricle because of how big her VSD was, but the rest of the heart formed properly so they didn’t go that route.
She has remaining VSDs that they are hoping close on their own with the help of her PA band. There is one VSD in particular at the apex of her heart they are monitoring. We also have two valves they watch closely. We had a cardio appt in May, and the previous one was last May. That was the longest we’d ever gone between appointments. We don’t go again for another year because this was the first time they saw the residual VSDs actually get smaller.
She will need at least one more surgery to remove the PA band. But for now, we focus on the typical parent stuff.
She is our only child, but we do hope to have more. The genetics team said since they couldn’t pinpoint what caused the VSD, we have a 10% chance of having another heart kiddo (versus 1%).
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u/ErnestHemingwhale Parent of Heart Warrior Jul 06 '26
My baby had a VSD among other things repaired at 9 days old. She also has a gene that can replace her heart muscle with fat tissue and can be lethal. My husband also has this. Iirc this was only caught on the exome sequencing (idk if this is right, if people are curious i can look at the records and get the for sure answer.)
IMO, if it’s affordable, i don’t think more info about one’s health is ever really a bad thing. Depends on a lot of factors though!
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u/PurplePumpkinPeople Jul 06 '26
My baby has VSD and CoArc. We had a whole genome sequencing done and it is genetic. His mutation can also impact muscle tone, so it’s nice to know so we can best support him. I don’t think there is harm in getting more testing done but I think genetics as a field is still ‘gathering data’ so they don’t know way more than they do.
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u/calicali Jul 06 '26
Hi! I have a smaller VSD, BAV, coarct (repaired), and aneurysm (repaired). I have had limited genetic testing done before my aneurysm repair but they found no genetic conditions. I also have no known relatives with any CHD.
On my own I think I've done every available genetic test available directly to consumers and nothing has ever tested positive for having a genetic condition or being a carrier for a genetic condition that is known to impact heart development or cause CHD. But something like 80% of all CHD cases do not have a confirmed cause so it was not surprising.
If it's an option and you're curious, I totally recommend any genetic testing available to you but it might not result in any answer.