Fetal Ebstein's and TGA Prognosis question

Hello, I am pregnant and at week 14.5. At week 12 I went in for  NT scan and they discovered severe Tricuspid Regurgitation. I went back in the following week and it was confirmed along with some enlargement of the Right Atrium. At week 14 we looked again and it also appears that there is Transposition of the Great Arteries. In addition to that it also appears that the Ductus Arteriosus is either incredibly small or non-existent. The blood seems to have found another route in. Finally, the heart also appears to be sitting a little off (slightly to the right if I recall correctly).

If my baby truly does have Ebstein's, TGA and this Ductus Arteriosus issue what kind of prognosis can we expect? I know we are waiting to see how things develop and also waiting to get in with a cardiologist but that won't be for a number of weeks yet. From what I have read online with the Ebstein's by itself, discovered so early and being so severe the chance of fetal demise is close to 80%? If the baby does make it to delivery what kinds of surgery could be expected with all of these conditions? And then what kind of prognosis? Does it truly appear that this baby won't make it? Thank you so much for any information!

[Marie M Gleason, M.D.]

Dear ss_mom:  Unfortunately, from the information that you provide, it is not fully clear to me what your baby’s heart defect is.  There are a couple of possibilities:

1)  Ebstein’s anomaly with normal connections of the pumping chambers and arteries is a severe structural abnormality of the tricuspid valve.  It is associated with leakage of the tricuspid valve that is often picked up in utero (before birth).  If the valve leakage is severe, and the cardiac output of the baby is very low, then there is a high likelihood of the baby dying before term.  However, this is not usually associated with constriction of the patent ductus arteriosus (PDA).
2)  Premature closure the of ductus arteriosus can happen rarely.  The fetus needs this blood vessel to be wide open as a pathway for blood to get back to the placenta to pick up oxygen.  If the PDA is narrowed, then that cannot happen.  So pressure builds up in the right side of the fetal heart and leakage of the tricuspid valve can occur, even without a structural abnormality of the valve.   It is possible that if the people reading your baby’s fetal echo see severe tricuspid valve leakage, they could assume that it is Ebstein’s anomaly, but it may not be the case.  Certain medications like high doses of aspirin and ibuprofen can lead to ductal constriction, so check with your doctor if you are taking these medications regularly.  Unfortunately, premature closure of the ductus arteriosus is not compatible with long term survival if it develops this early in pregnancy.
3)  Lastly, there is a congenital heart defect called “L-transposition of the great arteries (congenitally corrected transposition of the great arteries)” that is very commonly associated with Ebstein’s anomaly of the tricuspid valve.  In this situation, the anatomic right ventricle is sitting on the left side and is pumping blood to the body (instead of to the lungs, like it usually does).   The anatomic left ventrcile sits on the right side of the heart and pumps blood to the lungs.  The tricuspid valve travels with the anatomic right ventricle.  If it has Ebstein’s deformity it is very likely that it will leak alot in this situation.

No matter what the underlying diagnosis, severe tricuspid valve leakage in utero is never a good thing.  If the baby’s heart cannot pump sufficient blood to the body, then poor perfusion to the major organs occurs, and fluid builds up in the abdominal and chest cavities.  In many cases, the baby can die before birth.  In order to help you understand your baby’s prognosis, you need an accurate anatomic diagnosis of what is going on with your baby’s heart.  This should be performed by a pediatric cardiologist who understands congenital heart malformations.  Close follow up will be needed.  If the baby survives to a gestational age where the lungs are developed enough to sustain life, then your may decide that early delivery and post-natal treatment  might be preferable to allowing the baby to try to grow to term, if there is significant heart failure.  Treatment in each case needs to be determined on an individual basis.  In certain situations, open heart surgery may help, but not cure, the situation.  In others, heart transplantation may be necessary.

[ss_mom]

Thank you so much for taking the time to go through my question! It is greatly appreciated!

We will be meeting with a pediatric cardiologist but I don't think that will be until week 20 (about 5 weeks from now). Our perinatologist is closely monitoring everything and as of right now there is no sign of fluid buildup. The baby does have Ebstein's and from what I understand the regurgitation is pretty severe. The baby also has L-Transposition of the Great Arteries.

From what I understood of the Ductus Arterious issue (and please forgive me if I have this all wrong and it doesn't make sense....it has been a lot to absorb the past few weeks) is that there is a defect with it. The Dr. had not mentioned that it had prematurely closed but that it was possibly not there. The oxygenated blood is getting to the baby but it sounded like it was getting there by some other means. (again, if I have misunderstood what was explained to me and this just isn't possible, my apologies).

Am I correct in understanding that this is a "wait and see" kind of situation. That the odds strongly favor fetal demise. That it will be supervised closely and when it goes into heart failure it can be determined if it is far enough along to deliver. At that point it will be determined if the lungs are developed enough and it can handle surgery. And then again at that point waiting and seeing if it makes it through surgery and if a transplant is necessary waiting to see if it can make it until a heart is available?

With these issues and quite possibly complications along the way (underdeveloped lungs, premature birth, problems in utero), is brain damage or other organ damage a potential issue here as well?

Again, thank you so much for taking the time to go through the questions on this forum. It is such a relief to be able to ask questions here. In my case, especially since I won't be able to ask these questions to our pediatric cardiologist for another 5 weeks and that seems like an eternity from now. It is very helpful to get an idea of what to expect so it can all sink in. Thank you!

[Marie M Gleason, M.D.]

I think you have a very good grasp on the situation based on your comments back to me.  In summary, this is, in fact, a wait and see situation, as there is nothing that can be done in utero.  If your obstetrician is watching the baby closely for fluid build up (called hydrops) then that is a good thing.  Then the cardiologist will likely review the same things we have discussed here with you. As far as other end organ damage is concerned (brain, kidneys, liver) that certainly happens when there is heart failure and hydrops, and this contributes to fetal demise.  If the baby survives until birth, the degree of end organ damage will depend upon the amount of heart failure present after birth.  There are some babies with severe tricuspid valve leakage who do not develop congestive heart failure early on.  So it really all depends upon how they do after birth.  Good luck.

[ss_mom]

Thank you! I truly appreciate the help in understanding the situation and the clarifications. Thank you also for the well wishes!

[ss_mom]

I just wanted to give a quick update...I had misunderstood the Ductus Arterious concern. It is the Ductus Venosus that has the issue. No reply necessary I just wanted to update in case someone else ever finds this thread helpful to them.