PS Docs-Atrial Septul Defect

[Hudson_Hawk]

DH and I just learned that our niece has an Atrial Septul defect. Her ped heard a murmur during a routine appointment and they just met with the cardiologist yesterday. Apparently she''s going to need surgery sometime around kindergarten age. She''s two now.

How serious is this and is there a genetic link? The perinatologist asked us about a familial history of murmurs when we met for our NT scan earlier this month but we didn''t know anything about this at the time. Is this something I need to bring up or is it nothing to worry about?

 

[waxing lyrical]

That was one of several of ds1''s heart defects. His defects were fatal. Whether or not it needs surgery depends on how large/severe it is. Some CHDs have a genetic link. Most occur by chance/random.

Good thoughts for your niece!

 

[Clio]

My son had this (although his may have been ventricular, I can''t remember now), along with a patent ductus arteriosus, when he was born. In his case, the septal defect closed on its own, and he had the PDA repaired through catheterization when he was 3. It was an easy procedure for him - the hardest part was having him lie still for several hours afterward. As soon as the anesthesia wore off, he wanted to be running around!

The severity varies with each child. In my son''s case, his defects were minor, and the only special treatment he needed was to take antibiotics before dental visits. Oh, and regular checkups with the cardiologist. Since having his PDA repaired, he doesn''t even have to do that any more.

There was no genetic link in his case, but I don''t know otherwise. I''d say that it can''t hurt to mention it, but I wouldn''t worry too much.

 

[Hudson_Hawk]

WL-I''m so sorry for your losee.

This was the diagnosis that came from their first visit with the pedcard, I''m not sure who this doc was or how good they are. I know they''re now looking to take her to someone at Columbia. Are multiple malformations common?

 

[Upgradable]

HH, is she a newborn? (n/m, just reread that she is 2) First off, the reason they're not saying surgery until kindergarten is because many of the less severe case tend to close on their own with time. They will continue to monitor her closely and there may be some physical restrictions (or it may be just watch her for bluing of the fingernails and lips). When a child has one defect, they may have more, but that is not a given.

Prayers for your family and your niece, esp. for her parents who may have a hard time reconciling the diagnosis.

 

[Hudson_Hawk]

DH just clarified, it''s a substantial defect and they want to do surgery before kindergarten, as in sooner rather than later

 

[Lilac]

I don''t know anything about atrial septal defects, but I just wanted to send good thoughts to your niece.

I think you should mention it to your doctor - hopefully he/she will tell you it''s nothing to worry about, but there''s no harm in mentioning it just in case.

 

[Logan Sapphire]

My twin sister had one from birth that wasn''t caught until she was 15. The hole was the size of a silver dollar and she was slowly leaking blood into her lungs. Having said that, she had open-heart surgery and has been healthy as a horse ever since. Because no one knew about it until she was a teenager, she was never restricted from doing anything majorly physical- she in fact was an excellent athlete in high school, despite that her heart had to pump extra hard to make up for the blood she was leaking.

In our particular case, I don''t know if there''s anything genetic to it. We were adopted so we don''t know our medical history. I have a slight, slight murmur but no ASD. My ultrasounds haven''t shown anything unusual either.

 

[Maisie]

James has this. He was diagnosed just after he was born. We were told that he would need heart surgery. They advised us it would probably need to happen around age 2-3. The paediatrician said that if it was left uncorrected James might have a heart attack in his 30''s. He has been monitored every 6 months and up till now they have said he doesn''t need surgery. He is almost 6. I wonder if this sort of thing can correct itself.

We have a card that we have to carry and if James has any kind of infection that might go onto his lungs/chest we are supposed to make sure he has the correct treatment. And if he has to have dental surgery at any point he has to have a course of antibiotics beforehand.

Nobody else in our family has this. I don''t know if its hereditory. I would still mention it to your doctor.

 

[Hudson_Hawk]

Thanks Ladies.

 

[Catmom]

That is what caused my stroke two years ago. It was undiscovered until then. I had a device implanted to close the hole but I still have a leak and may need to have a second device implanted over the first. I find out at the end of April if the leak is any worse and if I need the second device. I was told there can be a genetic link but so far my children show no signs of it and I''ve never heard of anyone else in my family having this problem. Often the defects close on their own and no surgery is needed. I sincerely hope that is the case for your niece! Some people live their entire lives with these defects and never have a problem and then others like me do have issues. The problem is that it allows unfiltered blood to circulate through your lungs and brain and if there is any "debris" in the blood can cause a stroke. When I had mine, my neurologist had had three other women just that month that had also had strokes due to Atrial Septal deffects.

 

[Hudson_Hawk]

Thanks for your input CM. How scary!!

 

[Maisie]

Date: 3/25/2010 1:02:53 PM
Author: Catmom
That is what caused my stroke two years ago. It was undiscovered until then. I had a device implanted to close the hole but I still have a leak and may need to have a second device implanted over the first. I find out at the end of April if the leak is any worse and if I need the second device. I was told there can be a genetic link but so far my children show no signs of it and I''ve never heard of anyone else in my family having this problem. Often the defects close on their own and no surgery is needed. I sincerely hope that is the case for your niece! Some people live their entire lives with these defects and never have a problem and then others like me do have issues. The problem is that it allows unfiltered blood to circulate through your lungs and brain and if there is any ''debris'' in the blood can cause a stroke. When I had mine, my neurologist had had three other women just that month that had also had strokes due to Atrial Septal deffects.

That is scary. You must have been frightened

 

[Catmom]

Date: 3/25/2010 1:13:52 PM
Author: Maisie

Date: 3/25/2010 1:02:53 PM
Author: Catmom
That is what caused my stroke two years ago. It was undiscovered until then. I had a device implanted to close the hole but I still have a leak and may need to have a second device implanted over the first. I find out at the end of April if the leak is any worse and if I need the second device. I was told there can be a genetic link but so far my children show no signs of it and I''ve never heard of anyone else in my family having this problem. Often the defects close on their own and no surgery is needed. I sincerely hope that is the case for your niece! Some people live their entire lives with these defects and never have a problem and then others like me do have issues. The problem is that it allows unfiltered blood to circulate through your lungs and brain and if there is any ''debris'' in the blood can cause a stroke. When I had mine, my neurologist had had three other women just that month that had also had strokes due to Atrial Septal deffects.

That is scary. You must have been frightened

Oh yes, there really is nothing quite as frightening as when you realize you''re in the middle of having a stroke!

 

[gemgirl]

Date: 3/25/2010 1:21:45 PM
Author: Catmom

Date: 3/25/2010 1:13:52 PM
Author: Maisie

Date: 3/25/2010 1:02:53 PM
Author: Catmom
That is what caused my stroke two years ago. It was undiscovered until then. I had a device implanted to close the hole but I still have a leak and may need to have a second device implanted over the first. I find out at the end of April if the leak is any worse and if I need the second device. I was told there can be a genetic link but so far my children show no signs of it and I''ve never heard of anyone else in my family having this problem. Often the defects close on their own and no surgery is needed. I sincerely hope that is the case for your niece! Some people live their entire lives with these defects and never have a problem and then others like me do have issues. The problem is that it allows unfiltered blood to circulate through your lungs and brain and if there is any ''debris'' in the blood can cause a stroke. When I had mine, my neurologist had had three other women just that month that had also had strokes due to Atrial Septal deffects.

That is scary. You must have been frightened

Oh yes, there really is nothing quite as frightening as when you realize you''re in the middle of having a stroke!

I''m so sorry you had to go through that Michelle. Are you OK now? (from the stroke)

 

[Catmom]

Date: 3/25/2010 2:46:12 PM
Author: gemgirl

Date: 3/25/2010 1:21:45 PM
Author: Catmom

Date: 3/25/2010 1:13:52 PM
Author: Maisie

Date: 3/25/2010 1:02:53 PM
Author: Catmom
That is what caused my stroke two years ago. It was undiscovered until then. I had a device implanted to close the hole but I still have a leak and may need to have a second device implanted over the first. I find out at the end of April if the leak is any worse and if I need the second device. I was told there can be a genetic link but so far my children show no signs of it and I''ve never heard of anyone else in my family having this problem. Often the defects close on their own and no surgery is needed. I sincerely hope that is the case for your niece! Some people live their entire lives with these defects and never have a problem and then others like me do have issues. The problem is that it allows unfiltered blood to circulate through your lungs and brain and if there is any ''debris'' in the blood can cause a stroke. When I had mine, my neurologist had had three other women just that month that had also had strokes due to Atrial Septal deffects.

That is scary. You must have been frightened

Oh yes, there really is nothing quite as frightening as when you realize you''re in the middle of having a stroke!

I''m so sorry you had to go through that Michelle. Are you OK now? (from the stroke)

Thank you gemgirl. I am ok, luckily it was just a mini-stroke and I only have a small balance issue left. The good news out of all of this that now that the hole is more or less plugged I no longer have migraines and that''s a big YAY!!

 

[gemgirl]

I''m sorry for your little niece''s situation HH. I can''t imagine knowing that my little girl will need a serious surgery soon. Her parents must be nervous wrecks. I hope they have great doctors to monitor her condition.

 

[Maisie]

Date: 3/25/2010 1:21:45 PM
Author: Catmom

Date: 3/25/2010 1:13:52 PM
Author: Maisie

Date: 3/25/2010 1:02:53 PM
Author: Catmom
That is what caused my stroke two years ago. It was undiscovered until then. I had a device implanted to close the hole but I still have a leak and may need to have a second device implanted over the first. I find out at the end of April if the leak is any worse and if I need the second device. I was told there can be a genetic link but so far my children show no signs of it and I''ve never heard of anyone else in my family having this problem. Often the defects close on their own and no surgery is needed. I sincerely hope that is the case for your niece! Some people live their entire lives with these defects and never have a problem and then others like me do have issues. The problem is that it allows unfiltered blood to circulate through your lungs and brain and if there is any ''debris'' in the blood can cause a stroke. When I had mine, my neurologist had had three other women just that month that had also had strokes due to Atrial Septal deffects.

That is scary. You must have been frightened

Oh yes, there really is nothing quite as frightening as when you realize you''re in the middle of having a stroke!

I can only imagine how that must feel. We have an advertising campaign at the minute over here about recognising the first signs of stroke. It scares me every time the ad comes on. I''m glad you are feeling better.

 

[MakingTheGrade]

Best wishes for your niece's surgery!

I'm not a doc yet, just a student. But I got to do my pediatrics rotation at CHOP (Childrens Hosp of Philadelphia), and at least from what I've seen and heard there, ASDs are pretty fixable if you know to suspect and look for them early on. Sometimes they even close on their own. I know that here at HUP, we specifically ask about heart defects in the family, and if they are mentioned, we may do extra ultrasound scans closer to your delivery date and pretty clearly image the heart and do different doppler studies to asses flow etc. As far as I'm aware, there isn't a strong genetic link for an isolated ASD, but I would offer the info to your OB and pediatrician anyways because a little extra precaution wouldn't hurt, and would probably make you feel safer.

I think serious complications mostly arise when ASDs aren't recognized for years until the person gets pulmonary hypertension, a stroke, or another manifestations of it.

Kind of an aside, but CHOP is just amazing. The other week I watched them do a fetal surgical intervention to save the fetus. Craziness. There are moms who fly in to Philly to give birth at Upenn just to have CHOP nearby in case anything happens to the babies.

Hopefully Ltlfirecracker or our other Peds docs on PS can chime in!

 

[San Diego Bride]

hi there. picu doc here. i'll try to help a bit if i can.

i don't know of any genetic link with an isolated asd, so i don't think your niece's diagnosis would change anything for you or your pregnancy. that having been said, giving your doctor an updated family history is always a good idea.

now i'll do my best to explain the atrial septal defect...

let's talk about normal anatomy first. "blue" blood (deoxygenated blood) returns from the body to the right atrium then goes to the right ventricle. the right ventricle pumps blood to the lungs to get oxygenated. the oxygenated blood ("red" blood) then returns to the left atrium and passes through to the left ventricle. the left ventricle then pumps the blood out to the body. the blood delivers oxygen, nutrients, etc. to the tissues and then is returned to the right atrium and so on...

now let's talk about embryology/fetal development. the fetus gets "red" blood from mom. it hardly uses its lungs since there isn't air to breathe in the uterus and the lungs are in the process of developing. some blood needs to go to the lungs to bring them oxygen and nutrients, but not all of the blood. a lot of the blood has to get from the right side of the heart to the left side of the heart without going through the lungs. this is done through the atrial wall or septum. the atrial septum is comprised of 2 layers (kind of like a 2 ply paper towel except the two sides aren't sealed together yet). each one of the layers has a hole in it. the hole is low on one of the layers and higher on the other one. blood in the right atrium uses these holes to pass between the layers of the septum and cross over to the left atrium, bypassing the lungs. the left side of the heart pumps mom's "red" blood to the body. make sense?

all of this changes when you're born. when the baby takes its first breath, there are pressure changes that cause the two sides of the atrial wall to slam together and "seal" the septum. if all goes as planned, the two holes don't overlap when the sides slap together since they are offset. sometimes, however, they do overlap and you're left with a hole in the septum. voila... an atrial septal defect.

the hole can also be a bit higher in the septum if it got a bit too stretched during development. during fetal development, the septum grows down and stretches as the heart grows. picture rolling out some pizza dough. it's supposed to roll out in an even layer, but it can get too thin in some places and leave a hole. septums do that too. that's often how ventricular septal defects form, by the way, since there aren't two separate layers of that in utero. regardless, a hole is a hole.

an asd is very difficult to screen for prenatally since all fetuses are supposed to have them (see above). without an asd you'd be in trouble as a fetus, with an asd you can be in trouble in the world outside the uterus. sometimes you just can't win. atrial septal defects tend to be pretty asymptomatic. most of them are found when someone hears a murmur. the murmurs are often difficult to hear though so they can go undetected for a while. severe defects can be associated with pulmonary complaints or poor growth.

as for treatment, they do close on their own sometimes. whether or not they will depends somewhat on their size and location within the septum. if they don't close, they are usually closed around age 3-6 to prevent problems later in life (rhythm issues, stroke, etc.) depending on the size/location, the cardiologist may be able to do a "device closure". in these situations, the child would go to the cath lab and have catheters put in the femoral (groin) artery and vein. a balloon device is passed up through the catheter to the septum and then "deployed"/opened in the correct spot, hopefully closing the hole. it's really nice when they can be done that way. generally kids are eating and drinking within a few hours and home the next day. if that isn't possible, the child needs open heart surgery. as far as open heart surgeries go, this is one of the simplest for pediatric heart surgeons, but that's not exactly a consolation for parents. the surgery is done via "median sternotomy" which means going through the sternum on the chest. i can write a bit about that and the recovery later if folks are interested, but this is already getting too long so i'll stop here.

in the end, i'm sorry your niece/family got bad news today, but you have every reason to be confident that she'll lead a "normal" healthy life after surgery.

 

[LtlFirecracker]

Date: 3/25/2010 4:03:23 PM
Author: MakingTheGrade
Best wishes for your niece''s surgery!


I''m not a doc yet, just a student. But I got to do my pediatrics rotation at CHOP (Childrens Hosp of Philadelphia), and at least from what I''ve seen and heard there, ASDs are pretty fixable if you know to suspect and look for them early on. Sometimes they even close on their own. I know that here at HUP, we specifically ask about heart defects in the family, and if they are mentioned, we may do extra ultrasound scans closer to your delivery date and pretty clearly image the heart and do different doppler studies to asses flow etc. As far as I''m aware, there isn''t a strong genetic link for an isolated ASD, but I would offer the info to your OB and pediatrician anyways because a little extra precaution wouldn''t hurt, and would probably make you feel safer.


I think serious complications mostly arise when ASDs aren''t recognized for years until the person gets pulmonary hypertension, a stroke, or another manifestations of it.


Kind of an aside, but CHOP is just amazing. The other week I watched them do a fetal surgical intervention to save the fetus. Craziness. There are moms who fly in to Philly to give birth at Upenn just to have CHOP nearby in case anything happens to the babies.


Hopefully Ltlfirecracker or our other Peds docs on PS can chime in!

Well, cardiology is not my strong point, but I will try. I am sure someone can do better, MTG''s info is pretty good. The septum (aka wall) divides the right and left side of the heart. The right atrium collects venous blood from the body and pumps it to the right ventricle. The right ventricle than pumps that blood to the lungs for oxygen. It is the smaller half of the heart, because the blood pressure of the lungs is low so the muscle does not have to do the work to get the blood there. The left side has to pump to the body, which has a much higher blood pressure than the lungs. When there is a hole, the blood has a chance to mix. The blood from the left side will go to the right side since there is a pressure differential (ahhh physics!). Well now the right side has more blood to pump and needs to work harder. So it gets bigger (just like when a weight lifter keeps adding more weight), and takes on more than it can handle, and if this happens over years, it can fail.

Also, all that extra blood can make the blood pressure in the lungs go up. High blood pressure means that the blood vessels constrict. That means there is less blood flow for oxygen exchange. That is bad. Pulmonary hypertension is the big complication of an ASD.

As for the stroke. Think of the ASD as a detour for a clot that leads to the brain.

A small ASD will not cause this problem (and has a high chance of closing), but a medium large ASD might. So the heart docs will want to fix that. Also, if the ASD is near a valve, it can cause valve failure later on, even it if is small, so those are fixed as well.

There are some genetic syndromes associated with ASD, but if she is otherwise healthy, I would not worry about that, as most are sporadic. There are some families that seem to have some sort of genetic predisposition, but I would say most of the ones I know about just happened by chance.

 

[somethingshiny]

HH~ Your family is in my prayers. And, thanks for starting this thread. I''ve been trying to find some easily understandable info about the fetal heart and assorted other info. We have so many knowledgeable PSers, I feel like I''m getting a grasp on some things too.

Lots of (((hugs))).

 

[Arkteia]

I think our dear doctors have explained it so well, that no more explanation is needed. Just wanted to add that once upon a time I translated "congenital heart diseases", a chapter from Nelsol''s textbook, into Russian. From those days, I remember that isolated ASD''s are usually not genetically linked. As it has already been mentioned, many of them close spontaneously. Evidently your nieces case is more severe, or so it sounds from what you say, so I wish her, her parents and you the best of luck!

Catmom - I read your thread in Who Is Who. It takes a lot of courage to have a stroke (and still be at a risk) and yet have so much optimism and love of life. Good luck to you!

 

[Catmom]

Date: 3/26/2010 1:13:20 AM
Author: crasru
I think our dear doctors have explained it so well, that no more explanation is needed. Just wanted to add that once upon a time I translated ''congenital heart diseases'', a chapter from Nelsol''s textbook, into Russian. From those days, I remember that isolated ASD''s are usually not genetically linked. As it has already been mentioned, many of them close spontaneously. Evidently your nieces case is more severe, or so it sounds from what you say, so I wish her, her parents and you the best of luck!

Catmom - I read your thread in Who Is Who. It takes a lot of courage to have a stroke (and still be at a risk) and yet have so much optimism and love of life. Good luck to you!

Thank you crasru. I try and just live my life, I don''t want to live it scared.

HH, please keep us updated on your niece. My strongest thoughts and prayers are with her! i hope you don''t worry too much over your own LO.

 

[pancake]

There is a recurrence risk in ASDs as for all congenital heart defects. From memory it is ~2.5% if one sibling has an ASD, and it rises to about 8% if two siblings do. Can't remember the figures for other relatives except that first degree is really what it's about.

An ASD of this nature at the age of 2 is extremely unlikely to close spontaneously (clearly what the cardiologist said, also). The reason for repair by school age is not because of the risk of cardiac failure or rhythm disturbances (although these risks do rise over time) but because of the risk of stroke.

ETA: Aaaaaand...as usual it is foot in mouth for Pancake, who did not read the rest of the thread and see the extremely detailed answers from others! Sorry!

 

[LtlFirecracker]

Date: 3/26/2010 5:53:12 PM
Author: pancake
There is a recurrence risk in ASDs as for all congenital heart defects. From memory it is ~2.5% if one sibling has an ASD, and it rises to about 8% if two siblings do. Can''t remember the figures for other relatives except that first degree is really what it''s about.


An ASD of this nature at the age of 2 is extremely unlikely to close spontaneously (clearly what the cardiologist said, also). The reason for repair by school age is not because of the risk of cardiac failure or rhythm disturbances (although these risks do rise over time) but because of the risk of stroke.


ETA: Aaaaaand...as usual it is foot in mouth for Pancake, who did not read the rest of the thread and see the extremely detailed answers from others! Sorry!

You are not the only one. I started writing my reply, took a phone call, came back and saw it open, finished and posted it. Only to see a PICU doc wrote out a great reply!