my boys...

[mlkyle]

Just found out on Oct 20th my two year old son whom we've known has had BAV since two weeks old has "mild dilating at his aortic root at his sinus of valsalva."

Due to that finding, I had my other two children, a four year old son and eleven month old daughter tested through echo. Cardiologist reassured me both of their echos were great.

Well, the cardiologists partner called me today and said, "Your four year old son has some "outpoking" in the same exact area as your two year old son...at the sinus of valsalva." My four year old son's aortic root at the sinus of valsalva is at the "high end of normal." We are also scheduled for a cat scan for my four year old tomorrow for a cough that won't go away and his chest xray had a"opacity at the left superior aortic knob." So I'm expecting them to find some other "anomolies" with my four year olds heart tomorrow. He has a tricuspid aortic valve.

I am right to assume now that my baby four year old also has the same "connective tissue disease" that my two year old does. Right?

I asked the cardiologist to please look over my baby girls echo again too.

He said both of my boys aortic roots are shaped like clover-leafs rather than the normal circle.

I am numb...depressed...

Kyle and Taj's mom...

 

[TXGal]

oh no, I am so very sorry to hear this news.. I knew you were talking about testing the other 2 children (which I am very glad you did), but I was praying they would be ok. You and your family are in my prayers. Please keep us updated and let us know what the cardiologist says.

 

[briansmom]

"connective tissue disease" is a very broad spectrum. Do you have any Marfan in your family? Sinus of valsalva aneurysms are often associated with Marfan. I also read that it is extremely uncommon for this aneurysm to cause a problem before puberty. So, the good news is that you are on top of this early and your children can be taken care of properly. This is absolutely not a death sentence for your boys. From my reading it looks like worst case is surgery to replace the aorta and while that sucks it is a very safe procedure and they should go on to have a "normal" life.

Hang in there, I know that you must feel very overwhelmed. I think you have plenty of time to make a plan and find the best care for the boys.

 

[mlkyle]

thankyou

thankyou

thankyou deanne,

No testing for marfans, but i've read about it and neither one of them have physical characteristics of marfans...could they still have it?

 

[njean]

So sorry to read these news on your little boys! I pray that you have more encouraging news from the cardiologist when you meet with him.

You're in my prayers & please keep us posted.

 

[briansmom]

the odds of both of them having Marfan in the absence of family history would be really long. On the other hand, they are probably too young to show the physical characteristics yet. The most dangerous thing with Marfan is an aortic dissection so as long as your boys are getting echos on a routine basis they would be covered even if they had Marfan.

 

[mlkyle]

my boys

my boys

do you remember where you read that about aortic aneurysm...not causing problems until after puberty? The dr is calling my boys...aortic bulging...not anuerysms yet.

thanks

 

[Andrew'sMom]

Julie, What further testing has your cardiologist recommended? Have they suggested genetic testing for Marfan's & other connective disease disorders? Have they ordered any further testing for the heart issues, such as a TEE or MRI? I would try and talk with your boys' cardiologist, it sounds like he is giving you info, but not completely explaining what it means to you. Some doctors are wonderful at this, some are terrible! I would try e-mail first and give it a few days, if you don't hear back, put a call into the office. You will have to go through his/her nurse, but it will be worth the peace of mind for you to get some answers, explanations, possible outcomes/prognosis. Take some time to gather all your thoughts and write out your questions in list form so it's easy for the doc to go through and answer. I did send you a r-e-a-l-l-y long PM, it had been a while, so I am not sure if I actually got it sent or if it went somewhere into cyberspace. If you did not get it, send a shout my way and I'll try again! I know it's hard, and I know how very scary this is to have to face, but like others said, you have a lot of things in your favor. Your boys are young, and children are incredibly resilient, and medical technology CAN repair them when it becomes necessary! Learn as much as you can, keep up their appts with the cardiologist -- and take some deep breaths -- it's going to be ok. {hugs}

 

[Andrew'sMom]

ps

ps

for your question as to whether your boys could have Marfans without having any of the major characteristics .. yes, it is possible. When Andrew went through genetic testing, the docs were extremely surprised that his testing came back normal ... he has so many anomolies (hyperflexibility, heart defects, bifid uvula, submucous cleft palate, mild finger/toe webbing, disproportionate limbs & things...) that indicate specific syndromes, they were nearly certain that he had something, just a "mild" expression of it. The geneticist explained that one can have Marfans, Ehlers-Danlo, Loey-Dietz etc to varying degrees -- very mild, which can go completely undetected in one individual, but be passed on genetically and have devastating results for another generation who may express a very extreme case. I would talk with your cardiologist to see if he recommends genetic testing. It's very expensive, and takes a long time for the gene studies to be completed, but you will get a definite diagnosis. Wishing you the best.

 

[francie12]

Hi Julie, I would recommend a pediatric geneticist, since both boys seem to have something. My older son Matt, with the BAV and dilated AO sees the geneticist every other year, and younger son with just the mildly dilated AO sees her now every three years or so. It has been very supportive and reassuring to get her input along with the regular cardiologist schedule. One thing she was clear about is even though it is recommended that we continue to test, there is every chance that younger son Dave will never have a problem with his AO. Sometimes they just happen to come in the larger size at the root or higher. Let's hope that all of our boys with this get through a long life with no surgery necessary! I feel for you so much. I remember so well what I felt like when I first found out about Matt's problems... Sending warm thoughts your way!

(Hi Jen! I responded to your message, but it seems to have joined the one you wrote to Julie in cyberspace! Love the new pic of Andrew--could he be any cuter?)

 

[COLLEEN S]

So sorry to hear your boys have this. The last thing you probably want to hear right now is...it's better they found it now than later. I am so sorry. Come here as much as you need to for support. We are all here.

 

[TXWildflower]

I echo Colleen's comments. We are all here. It is so much better that you know in advance and you can follow it up closely. I am sorry you have to bear such a burden though and it must be an awful worry. Best of luck.

Rhena

 

[mlkyle]

To all you beautiful and precious heart people...I want to say thankyou for all your support...

The update on the "saga" about my beautiful sons is...took my four year old for his cat scan today after he had an abnormal chest xray last week (took him in for a cough). Once the doctor learned of my four year old's brother having BAV with a TAA, he kind of freaked out and freaked me and my husband out thinking my four year old could also have something going on due to the chest xray....well, the cat scan was completely NORMAL!!!!!!!!!!

However, due to the abnormal xray, I called my pediatric cardiologist who just did echos on my four year old son and eleven month old daughter to make sure they didn't have BAV, I asked him to please look at my four year old son's echo again to reassure me it was okay...b/c they told me they both were fine...well, the doctors partner called me back and said my four year old son had some "outpoking" in the same area (sinus valsalva at aortic root) as my two year old son Kyle...however, my four year old sons measurements were still in the normal range....high end of normal the doctor said..

My question to you precious heart forum people...should I be freaking out about my four year old's "high end of normal out-poking?"

The doctor also said that both of my boys have an aortic root shaped like a clover-leaf rather than a circle. any of you heard of that before?

Anyway, I am doing much better today knowing my four year old doesn't have any thing horrible going on at the top of his heart where the xray showed a shadow!!!!!!!!

By the way, the cardiologist reviewed my baby girls echo today and said she had a perfect heart....thank goodness...how much more can a mommmy handle?

Love you all...

 

[Arlyss]

Here is a link to a video that provides information about the aortic root. The aortic root is not a circle - it consists of three distinct "pouches" or "sinuses", called Sinus of Valsalva.

http://www.youtube.com/watch?v=-J_pSBVsSFQ

This one also gives some information about the root and the ascending aorta.

http://www.youtube.com/watch?v=RY7QMLnaDLA&feature=channel

This one goes over the anatomy of the aorta, helping to understand what is the root, what is the ascending segment, etc.

http://www.youtube.com/watch?v=hJ0fbqai4pA&feature=channel

If you go to this page and scroll down, there is a section about BAV and TAAD in children and young adults. Some of the references may be helpful.

Best wishes to your family, and do remember the adults too - sometimes children are diagnosed first, but it may be present to some degree in others.

Arlyss

 

[Arlyss]

I neglected to give that last link, to a list of medical references that includes a section about BAV/TAAD in children. Here it is

http://bicuspidfoundation.com/Medical_Information.html

Best wishes,
Arlyss

 

[briansmom]

I googled sinus of valsalva and read a paper that said that there is rarely a problem before puberty. Also, as to genetic testing there are 3 tests available. There is a Marfan Fibrillin 1 test (about $1500), TGFBRI and II test (about $800) and various Ehlers Danlos tests COL1A, etc (about $1200). These prices are from the University of Washington Genetics lab.

BTW, a positive test means you definitely have it, BUT a negative test does NOT mean that you don't have it.