HELP ! I do not know what to do !1

My 16 yr old daughter has been very weak for the last couple of months. Couldnt stay awake. I took her to the Dr. who ran labs and said her B-12 is below normal and gave her an injection that helped about 2 days. then we went in for her school physical 2 wks later and they heard an irregular heart beat and sent her to have a echocardiogram. The results are: 1. Overall left ventricular ejection fraction apprx 60%. 2. Intra-atrial septum aneurysm. 3. Chiari network is noted in rt atrium. 4. Color and doppler scan reveals, mild pulmonic insufficiency, mild tricuspid regurgitation, mild mitral regurgitation. 5. unusual jet crossing through the intra atrial septum. appears to have both patent forman ovale. We went to see a Padiatric Cardiologist and he he did another echo on her about 10 days later and he said the ASD is large but the aneurysm has attached to it and is starting to grow over it but still not completely covered so blood is still shunting. I do not understand how this is a good thing. He said she can go back to cheerleading and gymnastics cause the aneurysm will continue to grow and eventually cover the large ASD !! Please let me know what to do. We are at a loss. She can barely breathe most of the time and cant even stand in line at a store without getting very weak and hot. This just doesnt seem right to me and she has had 3 monthly cycles in the last 6 weeks. Her labs show she is dehydrated (one in July and one this week), still has low b-12 and her Creatine Kina level is at 361 when the range is 24-170. Please let me know what to do. I am asking for someone to tell me if this Dr. is right or should I go somewhere else. Thank you in advance as I wait eagerly for your response.

[Jeffrey R Boris, M.D.]

Dear Twalkgirl,

As you likely know by now, an atrial septal defect (ASD) is a hole in the wall between the upper two chambers of the heart that is a congenital heart defect, something that your daughter was born with.  An atrial septal aneurysm is floppy extra tissue that arises from the atrial septum; it is not anything that can “rupture”, like an aneurysm of a blood vessel.  Without seeing your daughter, getting more history, and seeing her echocardiogram, I can’t be sure of everything that I need at this point to be able to tell you what is happening.  However, I can tell you a few things.  First, you are correct—if the atrial septal defect has not closed by now and it is considered “large”, it won’t close.  As an aside, a Chiari network is a normal finding and is a remnant of the early formation of the heart; as long as it is not causing obstruction to blood flow, it typically causes no problems.

Second, the murmur that was heard when your daughter was young was likely because of turbulent blood flow associated with this ASD, although I can’t say that for sure.  ASD’s can be missed, even by pediatric cardiologists, especially if the examination is normal, an ECG is normal, and, if obtained, a chest X-ray is normal.  Despite this, she has definitely had it since birth.  The history of multiple pneumonias may also be associated with that.  There is information that I would need from the echocardiogram, such as an estimate of her right ventricular pressure, which would tell me if there was damage to the heart.  Typically, an unrepaired ASD at this age does not cause damage ALTHOUGH the chronic recirculation of blood from the left to the right side of the heart can stretch the heart and increase the risk for arrhythmias (abnormal heart rhythms).  Therefore, if it is a large defect, as you describe, it would be a good idea to have it closed (though it is not an emergency at this point).  Leaving it open would put her at risk for damage to the lungs and the heart over decades.  There are two ways to have it closed: the traditional way, with surgical closure of the defect, and the (relatively) newer way, which is to thread a catheter through a leg vein into the heart and to place a device in the hole to plug it.  You should discuss with your cardiologist which method would be more appropriate for her defect.  Especially since the concept of intervention is being considered, it would be a good idea to obtain a second opinion about your daughter’s heart.  The other findings of mild leaks in the other valves are most likely normal findings, as all of the heart valves leak a little bit.  As long as they are trivial or mild leaks, it shouldn’t be a problem.

Third, I wonder if her symptoms are associated more with dehydration than with her ASD.  Dehydration can absolutely cause weakness, feeling hot, dizziness, increased breathing (if feeling dizzy or nauseated), etc.  Teenagers are notorious for not drinking enough fluid on a routine basis.  I would definitely make sure that she is drinking four 8-12 ounce glasses of water on a daily basis, not skipping meals, and not having caffeine.  As well, she should have a salty snack to make sure that the fluid stays in her bloodstream so that her “tank” stays full.  

With regards to migraines, there have been several studies to suggest that an atrial septal aneurysm in the setting of a patent foramen ovale (PFO) can be associated with migraine.  However, a well-performed study demonstrated that closure of the PFO does not reduce the risk of migraine in the future.  Therefore, I think that this is something that is still being assessed at this time.  

Finally, I’m not sure about the B-12 levels.  This is something that should be further looked into, likely by a specialist such as a gastroenterologist.  I will say that for a growing adolescent, a creatine kinase (sometimes referred to as a CK or CPK) of 361 is quite normal.  The normal values that you quote are for grown adults.

[twalkgirl2]

This is twalkgirl2 and I wanted to add that my daughter had 2 surgeries below the age of 5 on her ureter and they told me each time she had a heart murmer. When I ask about it they said it was nothing to worry about and she would outgrow it. My other question is, if she has had this for 16 years has it done damage to her heart and why do they think it will close up now if it hasn't done so in 16 years ? With the breathing problems she has, or we just to wait and see if it closes and what would you do if you were her Dr.? Is there anything I should watch for? What will happen if the aneurysm ruptures? Isn't it better to have this taken care of while she is young and having problems or later in life when the aneurysm ruptures?

[EchoTech]

I am not a doctor.

Without seeing the exams, it is hard for me to give any advice.  With the given information, it appears that your daughter has an aneursymal interatrial septum with a PFO.  What this means is that most interatrial septums move a little bit during breathing as it relates to intrathoracic pressures (this is a normal thing)   Your daughter was born with a septum that had extra tissue, so instead of the interatrial septum moving a little bit, it moves a lot more in her. The PFO is a little hole in the interatrial septum that did not close.  If it hasn't closed by now, it's not gong to.  This happens in roughly 1 out 4 people, so about 25% of world's population ( at least 1.5 billion people) has a PFO.  Tissue typically doesn't grow over ASDs, so I am speculating that she doesn't have an ASD.  I would advise you to call your paediatric cardiologist  and ask them to go over it with you again.  You might have heard just one thing that shocked or worried you and you may have not heard the rest of things that they said. It's happened to me when I got some bad news, so perhaps it happened to you to.
  As far as the labs go, I can't help you there.  I would say make sure she drinks more water, possibly even some Gatorade to help keep her hydration where it should be.

[twalkgirl2]

Thank you for the help. I listened to everything the Dr. said and his exact words were "If she had came into my office today and the aneurysm had not started to grow over the hole which is large, I would have to take her straight into surgery". I still want to know if it is ok for the aneurysm to continue to grow to cover the hole which at this time is still letting blood back and forth. Is this why she is tired and having a hard time breathing? Dr's said no and that there is some underlying problem that is causing it. Everything I have read says otherwise. That is why I am confused. My daughter was also diagnosed with miagraines at age 10 and I read now that is a sympton of PFO. She has been in and out of the hospital her whole life. She has always been very sick. She had pneumonia so many times over several years that we had to buy a breathing machine to give her medicine and when she was old enough they gave her the Pneumonia shot. I just look back now and wonder of all the illnesses she has had to go thru have ben associated with her heart. We live in a small town and do not have the technology that the big city hospitals have. An adult cardiologist read the first echocardiogram and said she needed the hole closed and the 2nd echo was read by a pediatric cardiologist who said we have nothing to worry about ! I still have no answers. We are going back to visit the pediatric cardiologist on tuesday and I would like to know what should I ask? Should I ask that the hole be closed or wait until later in life when she will have problems? Also does that mean she will have to live with not being able to breathe at times and almost fainting spells? Also, what happens if the aneurysm ruptures and the hole is open again? Is their a risk for blood clots and strokes? Thank you again. I just want to be a little more informed before our next visit.

[twalkgirl2]

Could someone please help me with my questions? PLEASE.....

[grendslori]

You say you live in a small town.....my advice: start looking at a BIG town. Get a totally seperate opinion.