NIH Study - Kids, Genetics and Left Ventricular Problems

[Bart]

I am really Megan, Bart's wife.

I took our 10 yr old son to his annual cardiologist visit yesterday. He has a bicuspid aortic valve (like his dad who had a mechanical replacement done 2 years ago). Son has no problems and valve is not leaking.

We were asked if we would participate in a NIH study involving any genetic link to left ventricle problems because of son's bicuspid valve (participants have to be nine years old). You should have seen the research coordinator 's (or whatever she is) eyes light up when I told her his dad had a bicuspid valve also. I will be in the study too and I think my questionaire will mainly involve any pregnancy issues, like exposure to chemicals, etc.

All three of us will give saliva samples for testing. The paperwork that I have so far says they are hoping to get 500 participants who have heart problems and 1000 family members to study. We are participating in this study through Children's Hospital in Columbus, Ohio.

We have two other children without any known heart problems, but neither have had an echo. My son is very active in sports and there are no restrictions on his activities. I did question the cardio this time about weight lifting as it hadn't been brought up before. He says no weights that can't be held in your hand. No added weights like bench pressing - he says this can cause additional strain on the valve which could cause leakage.

I am posting info on this study here because I thought it might be of interest as I know others with kids are concerned about the heredity of heart problems.

 

[Natanni]

Thank you so much for posting this study. How can others participate? Could they work with our docs at the Mayo in Rochester?

My husband (34 years) had his biscuspid replaced w/mechanical in Sept. At that time, it was suggested to get our kids checked. My 9 year old daughter was found to have a murmur in Sept, and will be having an echo done at the Mayo when her Dad has his 2nd post op echo in June. In the event that she does turn out to be bicupsid, I wonder if she could partcipate in the study? On a side note....my husband's Dad had a heart transplant for cardiomyopathy, with really an unknown cause....

My husband was a big time weight lifter in his twenties, bench pressing in the 300 lb range....sure wish we would have known more then.....

Many thanks again, appreciate any info...

Ann

 

[aussigal]

Great...we need more of these studies to be done...

please report-back in when you have had your turn ...I am very interested to hear how you all went...

I too am glad we found the boys' BAVD before they took up weightlifting cos its on the NO-NO list as far as I am concerned no-matter what their Doc. says.

I read a whole lot more on murmurs last-nite and not all bicuspids' have a mumrmur...they can develop after the valve gets old and starts to wear out and we know this is accelerated in BAVers.....from what I understand the MUMRMUR is actually the wrong /extra noises etc in your heart because of the fault., and the type of murmur can show the Docs what problem is thats causing it.

I urge ,,, OK BEG

...BAVD PARENTS

DO NOT settle for less than an ECHO, even without any hint of a murmur.

 

[Lynlw]

if you are interested in participating in studies, I would try calling Children's hospital inColumbus,(since that's where Megan went)also I know CHOP is working on genetic links also, Meghan, I know what you mean about their eyes lighting up, when we told the researcher at CHOP, that beside Justin's CHD, on my side of the family my grandmom had an ASD and my brother's son died when my sil was 8 months pregnant, he had TGA. THEN on my husbands side, his brother died when he was 12 following heart surgery at CHOP in the early 50s and our great niece has tof. They actually asked for Blood from my parents and brothers my sil and niece and all of Don's siblings as well as his great nieces immeadiate family. I really hope they were able to learn something,
If you want me to get the reasearch info for you for CHOP, I can look it up Lyn

 

[Bart]

The phone number for the contact for the study is (614) 722-2000 and must be a recording because it says it is available 24 hours, 7 days a week. In reading the consent for this study I was surprised to see that the study was approved on 6/1/04 and the expiration is 6/1/06 since son has been to see the cardiologist since the approval date. It seems to be just a local study, but you would have to think they would be more interested in people with a family history.

My husband used to lift weights when he was younger. I am not sure how much, but enough to damage his rotator cuff and need surgery way after it was originally injured. Then of course there is Arnold Schwartzengger who had his valve replaced so it does make you wonder about the weight lifting connection.

I am of two minds with testing of all children/siblings. The only benefit I see when they are younger to pre-medicate with antibiotics before dental procedures. The BAV is not really a problem for my son, at least at his age. Honestly I feel safer with son who has the BAV playing sports than the other two - he has clearance from his cardio. The cardio routine asks about chest pain, dizziness, fainting and passing out and not being able to keep up with his peers as symptoms. While I do watch dear son more carefully than I normally would, I am also aware of these symptoms if they would develop in his siblings. I wonder about triggering medical insurance/life insurance/career choice issues in kids who are asymptomatic.

The study coordinator did say that perhaps because of the outcome of the study that it might be recommended that the other two kids have echos.

 

[aussigal]

I was more concerned about whether or not the boys had the BAVD rather than triggering insurance premiums etc.

and one of the boys ( the 10 yr old )DOES have a 3.5 version of my aneurysm and I would never ever have forgiven myself if it blew and I hadnt checked him out properly, I am also looking to get him on beta-blockers...I also got 2nd opinions on all 3 as I did for myself...

felt really guilty for a while there that I hadnt taken their disease as seriously as mine... its identical just at a different stage...

i want to be able to keep them healthy and away from annies if I can and if that means restrictions..well so be it...
mind you this 10 yr old boy of ours is pretty rough without having to engage in weightlifting as well...he has tons of wrestling and other stuff i frown on now ..

 

[Natanni]

Yeah, I can see the insurance aspect being a hard call, and I am absolutely dreading bringing my daughter down for that first echo....because I fear what I am going to hear from the results. I had a hard time pulling through hubby's surgery, I just can't imagine if my daughter needs surgery someday what I will be like. I blame my profession (nurse, surgical assistant) that makes me on the neurotic side I may not post often, but I read all the posts from all of our Mom's of valvers here, taking notes....

I already talked w/hubby about it, and we both think we will give the number a call. We can always try and get the appts before June. Too much family history here...

Thanks again for posting this info....

 

[francie12]

Thanks for the info on the study. Hope it will lead to more family members tested, BAV's revealed and even lives saved. I'm actually as concerned with getting my husband screened as my other son. He's fifty-three, at an age when a BAV typically begins to start acting up. No murmer, but we know that doesn't necessarily mean all is well. I had a normal echo myself (2.0 asc. aorta!) when I started having rampant PVC's, which I think were the result of obsessive BAVD internet research!!
Aussigal--Doctors seem to like ACE inhibitors for kids over beta blockers because side effects tend to be less. Matt has been on 20 mg of Lisinopril once a day for almost a year with no problem.