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paediatric asd
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paediatric asd

my 8 month old daughter was diagnosed with an 8mm secundum asd at 8 weeks old, 11 weeks later at 20 weeks it had enlarged to 9mm. she is reviewed monthly by her paediatrician and every 3 months by her cardioligist. she is symptomatic with peripheral cyanosis, sweating, and occasional panting when crying. her paediatrician has just said that her murmur is now much louder and her heart appears to be pounding against the chest wall, could you tell me what the likely meaning of this would be? also there is a very strong family history of cardiomyopathy on her dads side, he is ccurrently medicated for this condition and has an icd fitted and his 22yr old sister died immediately after heart transplantation.
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773637_tn?1327450515
Dear Firestarter,

An atrial septal defect, or ASD, is a hole between the upper two chambers of the heart.  This is a congenital heart defect, or a defect with which your daughter was born.  Typically, most patients with ASD’s are asymptomatic, or only mildly symptomatic.  Usually, when I see a list of clinical signs and symptoms that your daughter is experiencing, I get concerned for congestive heart failure (CHF), which is when the pumping of the heart is not able to meet the needs of the body.  This typically does not happen in patients with ASD’s BUT it can.  This is due to so much blood recirculating through the hole from the left side of the heart to the right that the lungs and heart are working much harder to deal with the pumping of this extra volume.  This can be treated with various anticongestive medications, including diuretics, or medicines to make her urinate to eliminate more fluid, as well as digoxin, which may help her heart to function better.  There are other medications that can be used as well.  However, if it gets to the point where she continues to have CHF findings and she is not growing well despite anticongestives, we will often try to close the defect.  

Ordinarily, we electively close these defects between age 3 and 5 years.  Historically, this was done by “open-heart” surgery, in which a patch is sewn in place to cover the hole, or the edges of the hole are sewn together.  Within the last 10 years, or so, putting in a device that plugs the hole by placing a catheter through her leg veins into her heart and deploying the device into the hole has become quite commonplace.  However, based on her age, she is probably too small to have this transcatheter device used.

The family history of cardiomyopathy is somewhat concerning, as well, although I am not sure if it specifically affects your daughter at this time.  There are several different types of cardiomyopathy, and I cannot tell from the history which kind her father has.  Certainly, as a first-degree relative, she (and her other siblings) would need to be screened for this, and there are published guidelines for this.  However, her ASD may be totally unrelated to the family history of cardiomyopathy.

Finally, a word about the size of the defect:  the resolution of echocardiography, or cardiac ultrasound, is not so good that it can tell the exact difference between 8 and 9 millimeters.  Most likely, the defect has remained the exact same size.  There are a couple of VERY rare case reports in which ASD’s have, in fact, grown.  But, in your daughter’s case, I would not think that this is a valid assessment.  
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Avatar_m_tn
I am not a doctor.

I am sorry to hear about her dad's complex history of cardiomyopathy and ICD placement.  

I'm not sure what your paeditirican means when he says the heart appears to be pounding against the chest wall.  The murmur cand get louder when your daughter gets older because of a small natural pressure change that everyones' heart experiences. The murmur is most likely the turbulence of the blood going from the the left to the right side of the heart. From this point on, I would predict that there is a low likelyhood of it getting louder.

As far as the ASD goes, I would say to you that there can be a little bit of difference in the measurements that the heart ultrasound person makes (here in the US, it's a person like me who's trained to do it.  I don't know if doctors do it in Ireland or if its other people like me.) and that it is okay.  You can have the same person do the test three times and get three slightly different answers.  So the bottomline is that the ASD did not grow.  The heart chambers around it might dilate, but the hole itself will not.

I believe that ASDs that large tend to not close off.  I believe that if it was going to close that it woud be on it's way doing so, but appears to be the same.  They may have you wait longer to see if it will close, but as time goes on, the likelyhood of spontaneous closing is less likely.  There may be some good news in that depending on where the hole is at, that they might be able to close it with a device that they can put through a tiny tube called a catheter.  If there is not a rim of tissue where the device can latch on to the tissue around the hole, then the most likely option may beopen heart surgery.

As to the timing of the repair, that's often a case by case decision.  It will depend how bad your daughter's symptoms are along with other factors that need to be accounted for by your paediatric cardiologist. Depending on her weight gain, it sounds like an intervention will come sooner than later.

She should be followed up on a consistent basis, most likely for the rest of her life not only for the ASD but for the chance that she has familial cardiomyopathy.  It can strike at any time, so it needs to be monitored.
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Avatar_f_tn
hi echotech
thank you for ur reply, as in th US it is whats called cardiac technicians here that do these echos and it was his report that the asd had grown in size and that the likelihood was that as it hand not started to close but appeared to have grown that it would most likely get even larger! her cardiologist then said that he would be hoping to avoid open heart surgery (if possible depending on if the asd enlarged further) and close it via catheterization. that however was just over 3 months ago, since then her paediatrician has seen her 3 times, the first 2 visits all appeared to be the same with her but this time as i said before he says her murmer has gotten much louder and is now palpable on examination and also that her liver appears to be slightly enlarged (tho i dont know what the significance of that is) tho he did say he wouldnt be worried about the murmur being louder but more that at rest her heart seemed to be pounding as opposed to the normal beating, really i suppose what im wondering is if these new symptoms are signs of cardiomyopathy?? in regards to her weight she is well below average for her age, but so far thankfully has not lost any weight tho at times her weight gain is sporadic in nature(ie one month she may put on 2lbs and the next month none at all) she is due to see her cardio again in a few weeks and have repeat ecgs and echo and he also said at her last visit that he would know better this time as to how and when it would need to be closed. personally i hope they close it sooner rather than later because of the family history, and the fact that it is adding extra pressure to her heart which genetically is at huge risk of developing cardiomyopathy without this added pressure.
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Avatar_f_tn
thank you for ur reply. can you tell me from her symptoms do you think its likely she has CHF? also would this show on her echocardiograph? if it does her cardiologist has not mentioned it to me altho he has said that her symptoms are caused by her ASD.
in relation to the family history, it is fairly complex, my husband has dilated cardiomyopathy but his sister had hypertrophic cardiomyopathy, my husband also had a VSD repaired at age 5 only coincidentally as his sister was sick from birth with an ASD and cardiomyopathy and had to have her ASD closed at age 2. it is a disease which has affected 90% of my husbands family on his dads side, both his dad and uncle died in their early forties from this, and there was only my husband and his sister in that family and in his uncles family there is 2 girls one of whom has so far escaped this condition but is still only 17 and it may rear its ugly head in time to come.
also could you tell me what you think her murmur getting louder and her heart pounding at rest could signify?
thank you again for your help.
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773637_tn?1327450515
Unfortunately, without fully examining her, I cannot tell for sure whether she has CHF or not.  That said, based on the strong family history, there certainly may be a component of cardiomyopathy involved, although again I cannot say for sure without seeing all of her information.  I would recommend consideration of genetic evaluation, to include genetic testing, for all living affected family members with the cardiomyopathy.  That way, if a specific genetic mutation is found, your daughter (and other presently non-affected relatives) could then be tested for that same mutation to see if she carries it and is at greater risk for developing the findings of a cardiomyopathy.

Her louder murmur and heart pounding are likely signs of her trying to increase her cardiac output to her body.  This may be consistent with CHF, or it may be associated with an obstruction that was not previously found in a heart valve.  Without having her in front of me to assess fully, I cannot say for sure what is happening here.
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Avatar_f_tn
hi doctor, sorry to bother you again but just looking at my daughters last ecg report and i was just wondering if you could tell me what "prominent right ventricular voltages" could mean? its a bit confusing as her echo report then says it shows "normal ventricular function", altho these reports were from her last appt which was in april and it is since then she has developed more symptoms.
thank you again for your help it is much appreciated
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773637_tn?1327450515
Dear Firestarter,

It's no bother at all.  The ECG looks at the amount of electrical voltage measured from numerous different angles around the heart.  Prominent right ventricular voltage suggests that the right side of the heart is enlarged or thickened (I can't tell which without looking at the study).  This is a finding that is expected with a sizable ASD, due to the extra blood flow overloading the right side of the heart.  It has nothing to do with the actual "function" of the ventricle, though.  The good news here is that it usually, though not always, resolves after the ASD is closed.
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Avatar_f_tn
hi doctor,
thank you again for your reply and im sorry to bother you again(!) but is it possible for you to tell me if this enlarging or thickening of the right side of her heart could cause her permanent damage in the next year or 2 if the ASD is left to the "watch and wait" process especially given the family history of Cardiomyopathy? We have an appt next week with her Cardiologist for a repeat echo, ecg and consult and i would like to have as much information as i can when we meet him so i can question the course of action that he thinks should be taken. Thank you again for your help

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773637_tn?1327450515
Dear Firestarter,

The most likely occurrence is that the right side is enlarged (not thickened) to some degree, although there is great variability among patients with ASD's.  Obviously, I can't say for sure without the specific information about your daughter, but if she is without symptoms and otherwise doing well, it probably should be okay.  That said, with the family history of cardiomyopathy, it would be more helpful to know exactly what kind of cardiomyopathy it is, to know if she is at risk for it, and to know if her ASD is, in fact, associated with it.  As well, if she is a carrier for a gene for the cardiomyopathy, then it may be more problematic for her to have the extra volume load in the face of the potential to develop a cardiomyopathy in the future.
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Avatar_f_tn
dear doctor,
in answer to your question regarding the Cardiomyopathy, my husband has Dilated Cardiomyopathy with a history of Bradycardia and Atrial Fibrillation, his deceased sister had Hypertrophic Cardiomyopathy and i am unsure as to what type their deceased father had. both my husband and his sister had holes in the heart repaired at age 5yrs and 2yrs respectively. i know my husbands was a VSD but am unsure of his sister's type. My husband has had gene testing done but none of his genes match up to any that have been identified for Cardiomyopathy so we have no way of knowing for sure if our daughter is also a carrier. in regards to our daughter she is already symptomatic with sweating, peripheral cyanosis and a mottled appeareance with episodes of severe pallor. since her last consult with the cardiologist she has started moving around a lot more and is under pressure when doing so (heavy breathing and panting if crying) and her paediatrician has said that her murmur has gotten much louder and that her beat is "very dynamic" and when i asked what he meant by that he said the only way he could explain it was that her heart was beating "much harder than before". Can you tell with this information what you think would be a good course of action? and again i thank you for all your help.
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773637_tn?1327450515
Dear Firestarter,

It seems that there is an unclear type of cardiomyopathy occurring in your husband's family.  Hypertrophic cardiomyopathy occurs when the heart muscle is abnormally thickened for no apparent reason.  Dilated cardiomyopathy occurs when the heart muscle is thinned and the left ventricle is enlarged.  However, some patients with hypertrophic cardiomyopathy who have it for a long time can "burn out" and end with a dilated cardiomyopathy.  Conversely, some patients with a dilated cardiomyopathy can have hypertrophy as a method of compensating for the enlarged left ventricle.  In the absence of a known genetic mutation, it is going to be difficult to tell both what the family has as well as the risk to your daughter.  It would be helpful to see if an insitution that performs research into genetic testing would be interested in assessing your husband and his family, trying to see if they can identify a new mutation.

In regards to your daughter, it sounds as if she may be having some worsening congestive heart failure symptoms.  Hopefully your cardiologist is treating this with medications.  Your cardiologist may also be assessing your daughter for echocardiographic evidence of onset of the family cardiomyopathy.  However, without all the data or seeing her, I cannot say what the best course of action would be for her.  I would think that closure of the ASD is at least under consideration.  But, if there are also findings consistent with cardiomyopathy, it may not be sufficient.
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