Dr. Lindblade led a discussion related to high risk fetal conditions (eg, sacrococcygeal teratoma, vein of Galen malformation, placental chorioangioma, etc.) and their cardiovascular implications. He and Dr. Behrendt presented options for prenatal monitoring and intervention, as well as perinatal management, to include prenatal, intrapartum and postnatal therapies.
Phoenix Children's Grand Rounds - March 26, 2024. CME credit provided only for participation during live sessions.
Ok. Well, good morning, everyone. Welcome to our uh Tuesday morning, grand rounds. Uh It's my pleasure this morning to introduce uh two speakers, one of which has come from Colorado and the other one's our local uh Doctor Chris Limb Blade. And I think he's gonna start. So I'll do him first. He's a pediatric cardiologist and our medical director of our fetal cardiology program here at Phoenix Children's. He also serves as a program director uh of the fourth year advanced uh noninvasive cardiac imaging fellowship at Phoenix Children's. He's an assistant professor at Mayo Clinic, uh Scottsdale, as well as University of Arizona College of Medicine and Creighton School of Medicine. He skilled in advanced cardiac imaging techniques including advanced fetal echocardiography and transesophageal echocardiography. He first joined Phoenix Children to start up the petal cardiology program. Uh and he's enjoyed the challenges of building the program and it's become uh and is very proud of the success it's become after graduating with his bachelors of science in biology from Wheaton College in Illinois. Doctor went later in his medical degree at the University of Illinois College of Medicine in Chicago. He then did an internship and residency at the University of Texas mcgovern Medical School in Houston and then a pediatric cardiology fellow at Fellowship at Indiana University in Indianapolis. Uh Doctor Lindblade has been nominated as Phoenix p uh children's physician of the year twice and is a top doctor in pediatric uh cardiovascular diseases by Phoenix Magazine for many consecutive years. He's committed to advancing the field of pediatric cardiac cardiovascular research. His peer review uh research has been published in the journal American Heart Association, pediatric Radiology, prenatal diagnosis and uh and arthritis and rheumatology. Amongst many others, he's presented at national and international meetings and has numerous uh uh journal articles, abstracts and chapters for medical textbooks. Uh He will be joined by Doctor Bent uh from the Colorado uh fetal care center. Uh Doctor B Brand, uh A pediatric surgeon who specializes in uh operating on fetuses. Uh He did additional fetal surgery fellowship at the Colorado Fetal Care Center specializing in laser procedure for to, to twin transfusion syndrome, uh fetal shunt procedures, open fetal meningocele closures, exeter, intrapartum, uh treatment, deliveries and fetal transfusions. He conducts fetal research focused on innovating imaging techniques, uh meningocele closures care and uh TT and TR transfusion syndrome. And uh they've got the most impressive videos of any grand rounds presenter of the year uh as well as the largest uh file size. So without any uh further uh doctor uh Weber, Doctor Brand, pick it over, right. All right. Thank you, John uh That was very kind. So, um uh again, welcome everyone this morning. Uh It's been a lot of fun putting together this talk uh with uh Nick uh is across disciplines. I mentioned I'm a pediatric cardiologist. He's an MFM specialist, a fetal surgeon uh across institutions. So obviously, we're here local and in Colorado joining us across state lines. Also, it's been uh a lot of uh fun times, dialogue about this. I hope you guys all enjoy. Uh today's talk on high risk fetal conditions and the cardiovascular evaluation and potential for prenatal intrapartum and postnatal intervention. Uh We have no financial disclosures. Either one of us. The only thing I suppose I should disclose is that I am on faculty at U of A and I did pick U of A to go all the way and uh my, my bracket has not busted yet. So I'm really excited about that. So we'll see where this goes. Um All right. So my job at the beginning of this talk is to really set the stage on discussion about fetal heart failure. And then we're gonna go in and talk about various different conditions that lead to fetal heart failure and their intervention. So, and with a very broad brushstroke, fetal heart failure is basically the fetal, the failure of the fetal heart to properly fill or in diastole and eject insistently properly to pump enough blood to meet the needs of this developing fetus. Now, obviously, the fetus is growing, developing and changing within that placental and internal environment. And uh that heart has special demands placed on it. And we can think of fetal heart failure in terms of the very same concepts that we talk about postnatal heart failure. When we talk about the concepts of preload or the volume of blood coming back to the heart after load, the pressure that it has to pump against and then myocardial contractility. All of these have profound interactions both with diastolic function and systolic dysfunction. Primarily being related to the myocardial contractility in the afterload. All impacting stroke, volume or the volume of blood that leaves the heart in systole, you multiply that times heart rate and then you get the very fundamental um calculation stroke, volume times heart rate which equals cardiac output. There are two general categories of fetal heart failure, low cardiac output state and then high cardiac output state, which is related, for example, to volume loading um or anemia in the fetus. And while there are several different causes of fetal heart failure, such as twin to twin transfusion syndrome infection, chromosomal abnormalities. When you look at cardiac causes of fetal high drops or heart failure, they kind of break down into these categories. About 40% are related to actual structural heart disease. A third related to arrhythmias, about 13% related to high output failure than cardiomyopathies and cardiac tumors. And it's also important to recognize that the fetus, as well as the postnatal baby has compensatory mechanisms to compensate for um heart failure. Uh And that's called the brain sparing uh effect, which is one of the ways that we shun blood to the vital organ, our organs, our brain um by lowering the cerebral vascular resistance, we can assess that prenatally by Doppler the middle cerebral artery that shows that there's increased flow going out to the brain. Uh when we have decreased um cardiac output. Also, the kidneys are activated through the renin angiotensin system. In order to maintain adequate um blood delivery uh to uh the vital organs. There are fundamental differences between fetal and postnatal circulation. Now, when postnatal circulation occurs, the ductal artery closes all the way and again, it it's very fundamental understanding all that dexin blood returns from the body to the right heart is pumped by the right vent, go out to the pulmonary arteries or turns with highly oxygenated blood to the left Atrian left ventricle to be pumped out to the aorta. This is what we call series circulation where our output of the right ventricle and the left ventricle are equal. However, the pressure in the right ventricle is lower than the pressure on the in the left ventricle side. And what's important to recognize when you have series circulation failure of one ventricle is sufficient enough to cause complete circulatory collapse. Actually, um if it's severe enough within the entire organism. Now, on contrary to that in field circulation, we have three significant shunts, the ducts, arturo isis, the fram of valley and the ductus stenosis. This sets up parallel circulation where we have actually two times the amount of blood flow going through the right ventricle compared to the left ventricle. And the pressures are equal in both the right and left ventricular size. And uh and what's important about that is that the fetus, the ventricles actually act independently. So the preload afterload contractility of the right ventricle independently re uh acts on the loading conditions on the left ventricle. There is ventricular ventricular interaction that we see within the fetus. But in the fetus, we can typically compensate by the other ventricle that has not reached failure yet for the dysfunction that happens in the other ventricle. Also important to recognize is that the myocardial elements of the fetus are immature. There is less contractile elements. The act in mycin binding is not yet matured in the fetus. And uh the um the use of calcium in the contractility as well as the use of only glucose as the energy substrate in the fetus really puts this fetus at a unique disadvantage for fetal heart failure. So my job as a fetal cardiologist is to evaluate the failing heart. Um uh with echo, that's my primary tool that I use. Um we can't use a stethoscope. I can't use physical exam findings. I have to rely on echo. And so um these are several of the findings that we use on echo um kind of broke them down into what we seen earlier versus later, more end stage um stages of heart failure. So early on, we'll see enlargement of the heart or hypertrophy as well. There can be uh abnormal cardiac filling valve regurgitation of the A V valves. You may start to see some mild decrease in the systolic contractility um as well as some Doppler derangements. I did highlight the um altered cardiac output because you may have decreased cardiac output or you actually may have increased cardiac output, especially with some of the lesions that we're gonna be talking today as it early stage of heart failure. Then when you go into the later stages of heart failure, you'll definitely see that decreased contractility and you get to see that today. Um more advanced um Doppler changes as well as development of things like ascites or fusions, edema of the skin. Basically fetal high drops and changes in the um uh a uh the amniotic fluid as well. And then eventually that leads to decreased fetal movement um and fetal death. So, these are the Doppler changes that we see in early and late um uh heart failure when we're assessing by echo. So we have the atrial ventricular valves which has um uh still a split E and A wave and then it's fused in the severe um heart failure patient where you don't see that separation between early diastolic and active uh diastolic filling. Um Our I DC Doppler is also um progressively more abnormal. We lose that diastolic component in our um IVC Doppler, our ductus stenosis um Doppler pattern is seen there. You start to see the A wave reversal here um in um more severe forms of heart failure. And then finally, our umbilical vein moves from a um more continuous to a pulsatile Doppler pattern in the umbilical vein. As fetal cardiologists, we talked to one another, try to quantify the severity of fetal heart failure by using this term cardiovascular profile score. It's a 10 point scoring system um where lower number is worse heart failure and um many of the things that are listed on the left column we've already talked about. So I'm not gonna review them, but just know that this has been around for decades. Um initially um published by Jim Huda um and modified throughout the um the years to basically uh help us understand what the likelihood uh and out and predict outcomes for this fetus. Now, you can't just use this within isolation. You also have to think about what are the causes of the failing fetal heart. Um For example, if the fetus is anemic, well, you give a blood transfusion and typically that's reversible and you can get the kid to a, a gestational age where we can get the child out um versus say a patient has severe Epstein's anomaly. Um and uh and has a low cardiovascular profile score that's gonna be correlated with um high fetal mortality. So we're gonna move on to a case. Um This is a 25 year old um lady um G two P uh uh V zero. Our first pregnancy was a termination was referred to us uh for concern for hypoplastic left heart syndrome. And also there was a family history of cardiomyopathy. Um mom's side of the family, really nothing exciting but dad's side quite interesting. Um He had a history of left ventricular noncompaction that was diagnosed at three months old and actually had a heart transplant at 15 months old. Uh His and he had a prior child with another woman um that resulted in a bad heart. There wasn't a lot of details and there was immediate neonatal de demise after delivery with this baby. So um doctor, we saw this patient. So I got to credit him for this slide. Um He did a great job kind of putting together a timeline here. Um And so they presented to the ob at 21 weeks um and got a referral to us where we saw them at 23 weeks where already we had dysfunction that was in the mild range and our heart size was borderline and large. At that time, the cardiothoracic area ratio, the area of the heart over the area of the thorax is how we um uh abbreviate that CTAR. Um As we went on, we saw that four weeks later, uh the function the right ventricle had left ventricle had um deteriorated. We developed um tricusp regurgitation. Our heart became more enlarged. Our ductal stenosis Doppler patterns were abnormal. At that point, we saw progressive disease where we had no forward flow across the pulmonary valve at that point in time and we had reversal of flow in the ductal artery. So normally our ductus arteriosus goes from the pulmonary artery into the aorta. As I showed earlier. In this case, the blood flow was going from the aorta into the pulmonary arteries. So we weren't injecting well from our right ventricle and we developed a fusion which have progressed over time and our heart became very enlarged here at Phoenix Children's with our Center for fetal neonatal care. We use the multi D conference, um We call them MD CS for short where we pull in our subspecialists that are pertinent to this case and, and we then pull in the family as well. And we do this via zoom. We really brought these on kind of during the COVID era and it's been a great tool to um uh bring our families and specialists up to speed. We did that and then we brought this to our heart center here at Phoenix Children's prenatally. And we developed a plan for all the stakeholders to have the buy in for this patient. And we developed the plan as you see, there and we would even consider ECMO candidacy depending on the age, the weight of the baby when the baby had delivered child made it all the way to 39 weeks actually and got sectioned at, um, um secondary to Bradycardia, followed the plans that we'd actually laid out and actually responded well to our, our, uh treatment. Um, so, um, just to show you what this looked like, uh, for us prenatally, this is interesting. So you see, at 23 weeks, our right ventricle is already not squeezing as well as our left ventricle. And then look just four weeks later that RV now is globular. We call it a spicy index which is more round in shape. It's losing its normal um geometry and it's definitely not functioning as well. And now with advanced uh imaging, we can see these changes in cardiac function with echo, not just anatomically, but we do this with Doppler, we can do this with strain, we can do this with tissue Doppler, that's a whole another talk. Um Then at 32 weeks, you can now see that both ventricles are dramatically enlarged um and dysfunctional, you can see that tricuspid valve regurgitation as well there. And um and so, uh and then our Doppler patterns are clearly abnormal uh at this point where we have um that monophasic inflow pattern. So this is what I was referring to with that lack of forward flow in the ductus arteriosus. Um we have the ductus arteriosus flow here. And then this is our aorta um going both forward um uh as it should be in the fetus over here, our forward flow, our red color going towards the transducer is going through the aorta back to our descending aorta here. But our flow in our ductus arteriosus is going reverse from the aorta into the pulmonary artery. So this was clearly indication that we were going to have to start prostate gland. And post natally, we saw that progressive um abnormalities in the ductus stenosis Doppler patterns as well. Post natally child came out at 3 kg. We did the interventions, we started prostaglandins, which is actually subsequently been weaned off. Um Genetic testing showed that there was a defect in the troppo mycin gene um which was in inherited through the father as an autosomal, a dominant pattern. And child had a heart transplant is actually in our cardiac IC U today. Um doing very well on room air on 0.25 of Milburn weaning, transitioning to oral heart failing medications, hoping that we're going to transition home. And um and then continue to be followed with our, I think they call it the heart rehabilitation team. They don't like heart failure team um and has negative connotations. Um But uh so we hope to have a good outcome for this child. So this is just a summary slide of the teaching points from this case about a low cardiac uh cardiac output patient that um we um we're able to have surveillance prenatally and do good counseling, prenatally to set us up for some tough decisions for the family and health care team members um after birth. So I'm gonna uh just quickly, just take us for the rest of the talk. Um We're gonna use this drawing from the 15 hundreds or Leonardo Da Vinci, amazing individual, brilliant um that wasn't just an amazing artist, but also drew um anatomical uh uh drawings that um really reflected the fetus within the maternal environment in the placenta. So we've uh we've already talked about dilated cardiopathy. We're gonna be moving on eventually talking about veal and sacrococcygeal teratoma and then the chorioangioma. So on that, I'm gonna turn it over to Doctor Bend and he'll take us from here. Yes. Who in the back seat? The turn that light on? Thank you. Um Yeah, thanks for having me here. Um You know, Doctor Lily got to do, I think the heavy lifting part of the talk where he put a lot of academic things in there and showed you a lot of stuff I get to do the show and tell part of the talk. So mine is just kind of fun to, to show you guys um all of these topics we're covering here could probably be their own grand rounds or even a, you know, full day symposium on how to handle things. So the point of it isn't to uh go through all the finer details of how to take care of Sacred Pagen Teratoma. The idea of it is, is how can we use some of these tools that we have? How can we use this multi D conference uh in Denver for us? Um I was talking to Melanie before. I don't know if it is Mike in here. Um but not too many years ago. Uh You would literally just walk across the hallway and say help. Uh ee either way, hopefully, probably more my mind to cardiology's way. So we're gonna talk about a troublemaker called Sacred Crux Stel teratoma. Um And how this, how the heart can help us know how to handle and best take care of that. Um So this is a patient that came to us in Denver. She was about 25 weeks, she got uh referred to us um because she had uh a large uh fetal sacral mass. Now, when you see that come through the, the uh consult uh service, um you know, you have a pretty big differential, but pretty quickly, we started to see uh this large kind of solid cystic looking structure here. Uh And you can even kind of can tell compared to the fetal abdomen, it's pretty huge. Uh And it, and it looks like a pretty big troublemaker. So um this is uh this is kind of taking a look again, this is using color Doppler to take a look at this mass. You can see pretty obviously here uh that there's this huge uh sacral mass, you see the cystic components. But the most striking thing, the most worrisome thing when we see a structure like this is you can just see the Doppler pattern, you can see these vessels that are just sort of coursing through this uh tumor. Um And that for us peaks our attention and says, OK, this, this can be trouble. Um One of the things I love about uh fetal medicine, Doctor Lindblade alluded to, you don't get to use your stethoscope or really your physical exam skills. But we do have a lot of pretty cool tools that we can put together to try to come up with uh with ways to help um this technology on the right here, this is called vocal virtual organ, computer aided analysis. It's basically a way uh to make a 3d reconstruction of any sort of ultrasound structure. You can use this outside of fetal medicine. In this case, we used vocal to do it get an estimate of how large this mass was. And this time it was 420 cub centimeters uh which roughly uh is the same in grams. And so uh you can see by the highlight section about a half, about a half estimate weight compared to the fetus. This MRI I think speaks for itself. You can see uh on fetal MRI. You can see this, the fetus there. And then again, this just honestly pretty gigantic mass coming off. Uh the sacrum, which is a sacred coccygeal teratoma, um which uh just looking again at this picture alone, uh we know we're gonna potentially have uh some issues. I'm not gonna go through the details of this slide. There are classification systems for uh sacred coal teratoma. Really. What matters to us when we see this in utero is um how big is it that matters a lot. Probably more importantly, what kind of vascularity do you see? Um As doctor Limley talked about, we can look inside the heart to see some of our predictors of how things are gonna go in utero and in some ways ex utero. Um in this case, that vascularity makes you worried because now you have this large immature mass um that is a sink of blood vessels. So we think about our auto regulatory mechanisms that we have in our blood vessels in our body. This SCT doesn't have those auto regulatory functions. And so you really have this just large sink of blood, uh blood vessels that are gonna steal from the heart, they're gonna cause the heart potentially to work harder. And so we know to be nervous about that risk factors, um you guys can look at this slide but really again, comes down to solid and vascular is bad cystic and nonvascular. It's not that it's good, but it's better. The predictors are better. We don't have to get quite as creative. I think as far as in utero exude care, you can see some blood vessel measurements there, fetal tumor ratio greater than 0.12. That's based on some old studies. In this case, we were all a 0.5. So pretty huge. Um And then all of those things that Doctor Lindblade showed before, all of those predictors that he showed for cardiomyopathy are just as relevant to something like this. So you don't have native heart disease, but you do have a tumor that can cause the same effects for this patient. On first evaluation. Again, this large mass, the cardiothoracic ratio was already increasing, the fetal tumor ratio was high, the combined cardiac output was elevated. And then one of the other features that we have is the MC A Doppler. So the uh speed of blood through flow through MC A dopplers were elevated, probably partially due to work of the heart and also probably part of the fetus at least to some level, having some level of anemia. And then the A F I, the amniotic fluid index was kind of just above normal. We see that pretty commonly when we uh see uh tumors and things causing heart failure. So this is looking a few weeks later, the mass is larger. Vocal technology now shows that it's at 630 centimeters cubed. You can see that this woman's A F I is starting to increase. We're now at an A F I over 40. Um And then we can tell again, things are starting to go downhill. We're starting to get worried. Uh Not all of these tumors uh act the same way, but I feel pretty confident guessing that if you have a large vascular cystic uh and solid mass around the beginning of the third trimester, things are gonna start to go downhill. Uh And so we've used that expertise to know we gotta start watching closer and we're trying to, we're trying to uh basically like stay on the line of how long can we wait before delivery uh Balancing prematurity uh in compromise. These are a couple pictures here of the heart. You can see on the left side, the CT ratio is increasing. You can just tell with your eyes that the heart appears big. You can see the heart function on the right side. Again, big heart in this chest heart working harder. Um And again, for my eyeballs, I don't interpret any of that. I go to my fetal cardiologist to tell me what I'm seeing. So, um here's another image here you can see on the left side that heart's just not working quite as well. You can see on the right side that we're starting to see some var dysfunction and again, the heart rocking a little bit more than it should. Um And then again, it's just huge. It looks really big in that chest. So that heart is working hard. It's trying to pump blood to the tumor, to the fetus. Um, and it, and it's, uh, we're starting to see sort of that downhill swing. Third evaluation, getting worse, getting worse. We're now again, early third trimester. We're to the point where unfortunately we don't have an in utero intervention uh to make this mass not cause problems, but we have the potential to help uh for delivery to kind of get at what Doctor Lindley had talked about before we talk about the physiology of things. So, prenatally, you have your blood vessels coming in from the placenta, going through the umbilical cord feeding, uh the fetal heart, the fetus then using its heart to pump blood sort of throughout the body. And then because of this tumor, you have that steel, you have this big red arrow here going to this tumor that says that that fetus is not only pumping blood to itself but also to this large mass and causing problems. So, prenatally, it's a problem, right? You can get into heart failure, high drops and eventually death. So one of the questions is, do you just deliver? And do you do, do you just take care of the baby afterwards? Well, probably an even bigger problem that happens post natally is that now you've come through, you have in the fetal circulation, you have a placenta that's relatively low resistance, right? Like the physiology is, it wants to be low resistant, it wants to push blood to the placenta. The fetus wants to get blood to the placenta. That's sort of how that physiology works. But this tumor is also low resistant. So, at least in utero, there's probably some level of competition between the two going on the two low resistant circuits. If you just deliver this fetus, you disrupt the blood flow to and from the placenta, which is the black box here. Now, you've taken away the low resistant placenta, the only low resistance you have left is this large mass. And so the three large red arrow signs says there's gonna be a lot of blood potentially that goes to this mass. And so you actually get, you can actually get to a situation where you essentially have a fetus that can bleed into this tumor. Uh and, and honestly get really sick and pass away if you don't think about that. So it's not as simple as deliver clamp the cord. Now, we're in, we're in the clear, it's how can we make these, make this big shunt, uh less, less uh less happening exit technique. Um Again, a whole another lecture in it itself. But uh it's a technique that was developed to try to take advantage of fetal physiology around the time of delivery in order to uh optimize that transition from fetal to neonatal life. If you look up when exits were developed. The first things the first uh use of them were for fetal neck masses. So when you have a problem with airways it delivery and so you would partially deliver the fetus, you would keep the fetus connected to maternal uh the maternal circulation. You have like all of your markers show like fetal physiology. You can intubate, you can debulk, you can do anything and then take advantage of that. So it's like super IC U care from the maternal circulation without having to do all that IC U care while dealing with uh this tumor in this situation. So this video is gonna be uh exit of an SCT in about two minutes. So it's very abbreviated and sped up a little bit. But the idea is we need to get access to the fetal tissue. Uh we need to get take away the SCT or at least debulk it before delivery. Um in order to uh make that transition to postnatal life. And so try to debulk the tumor, take away that sink. This is a large uterus. This is at like 28 weeks that, that uterus is gigantic. We're using a stapling device here in order to open up the uterus, you can see the fetal leg coming out here. You can start an IV in that leg, you can start to give blood products. The mom is under general anesthesia. Um And again, if you were to like do a pulse ox on that leg or on the hand or look at the physiology, it would look like fetal circulation. This is the tumor coming out right now. It is striking. It is, it is huge. You can see us sort of shoe horning it out in some ways now that that tumor is out, everything is pretty stable. This is a cardiologist right here monitoring the fetal heart. So we don't have those physical exam signs, but we can watch the heart as we go, we're giving blood products as needed. You can see the pediatric surgery team that essentially going through in removing this tumor. You can see them using a, um, a ligature there. They're going through, they're debulking the tumor. The idea is not to necessarily do uh the greatest tumor removal ever. It's to get rid of as much as you can. You can see in this picture, the placenta is down here, you can see the cord which looks like pretty normal cord blood flow. This is almost an hour of exit procedure still looks pretty good. You can now see at this point that tumor has been removed, you can see the fetal perineum, uh, the fetus is now out, they're now doing uh intubating and you have a much more stable situation. You've taken advantage of that maternal circulation. So now we've gone from prenatal to neonatal and we've gotten rid of a big troublemaker that can happen if you just deliver that fetus and then try to book that tumor while also doing resuscitation and, and things of that nature. This is the specimen uh after removal. That's pretty gigantic. I don't know if everybody here has seen a really fancy name, Placenta Bucket. I don't know if that's a real term. Uh That's what we call it at least. So, uh the placenta bucket had the tumor in it there. Um This is like a couple of days post op. And so II I show the pictures here um where you could see again sort of an abnormal appearance uh on the on the bottom of the fetus, there are some drains in place. Um But at the time of discharge, which was like three months later, looks pretty good, looks pretty normal uh and has pretty good and had pretty good function overall. But the big thing again is we had a tool uh through uh cardiology, through MRI, through ultrasound to find something uh to make a game plan and then to, to end up in a, in a good situation. I'll turn it back over to doctor Lindblade for this section. Amazing. That was an awesome video. Thanks for sharing that. Um So we're gonna move on to this lesion. Now, we've talked about below the heart. Now we're gonna go above the heart talking about the vein of Galen malformation. So, very similarly to the highly vascular, low resistance structure of the SCT vein of Galen malformation is also a highly vascular structure. That causes um arterial venous malformation in the brain where you have direct connection from the cory chordal arteries of the cerebral arteries directly into the cerebral veins. Um And it's a relatively rare type of uh intracranial anomaly. But when it presents, it's gonna present either prenatally or as a neonate. So, there are two different subtypes of this Koido, which is the more severe form has an earlier presentation. Like I said, either a fetus or a neonate. It's more challenging to treat because those blood vessels go through the pereny of the brain and is also at higher risk for heart failure uh for the pediatricians here. Um presenting signs of patients with uh vein of Galen malformation. You have a rapidly enlarging head circumference, hydrocephalus, irritability, potentially, that's an unexplained or vomiting seizures. Don't forget when you're in the newborn nursery till all tape the anterior fontanelle because you may pick up a brewery on there. Um So that's why we do that. Um and um uh where you can hear that a VM um and downward gaze or the sunset sign. And that's a favorite board question, I think on the peat sports and developmental delay. Um but it also may be detected prenatally. So, and that's usually buying this abnormal um blood flow that we see in the brain um which we do this as part of all of our fetal echoes as well as the maternal fetal medicine ultrasound as well. Um Fortunately, the fetus because of the circulation, having that low resistance placenta is at less of a risk for developing heart failure. Um because it kind of balances out the low resistance in the vein of Galen. But when it happens, when heart failure is present, there's an 80% mortality in the fetus. Um There's also continuing ongoing mortality risk in the neonate. Uh around 20 to 50% really urging us um and um uh prompting us to say we need to come up with ways to intervene on these patients. So here's the physiology of why does this happen? So here's the normal circulation with venous return coming through the sec and then going through the left side of the heart, going up to the cerebral vasculature. And I know this is a little complex of a drawing. But what we're really seeing if you just watch this arrow coming in, you have that reversal of flow in the transverse aorta because you have the steel of blood flow going through that low resistance vein of Galen malformation up in the brain causing dilation of the SVC. The right bench goal becomes hypertensive and dilated and dysfunctional. And this is where we see the fetal heart failure related to the vein of Galen malformation. Fortunately, we're very blessed to have Dr Luis Gonza Gonzalez and his team with radiology here at Phoenix Children's doing fantastic fetal MRI. This is a fetal MRI image. I mean such great detail. Here um of showing us that there's this vein of Galen malformation here. And it helps us just illustrate. These patients are also at risk for having um pulmonary hypertension because there's increased flow going through there. Therefore, increased venous return going down into the right ventricle and flow and pressure going out into the pulmonary arteries. And as you would expect when you have abnormal blood flow in the brain, these kids are at risk for um brain injury. And we've seen a correlation with the severity of the heart failure and the level of brain injury with vein of Galen malformation. Uh with encephalomalacia with this disease almost universally being associated with severe heart failure. So this is a kid that we took care of. Um here and this is her last echo that we had during the pregnancy where you can see this very abnormal blood vessel flow in the brain with some right atrial and right ventricular enlargement and dysfunction. Uh like I said, it's a little bit older of a a study, but you can see that this is the aortic arch coming up and around. Um Here I oriented this clip to help orient you to this slide and this directionality of the um blood flow. This red flow here is reversal of flow in the aorta being stolen again up to the brain through the vein of gala malformation. We throw spectral Doppler over that too. And we can see that flow reversal in the aorta in the fetus with this uh patient um with vein of Galen malformation. So, similarly, as uh Doctor Baron talked about when we deliver at, uh we have some key physiologic changes that can impact the um patient with a vein of Galen malformation. First of all, our pulito vascular resistance starts to fall in our lungs and that creates a higher flow going out to the lungs and an increased steel going through that vein of Galen malformation through the right ventricle also. So we lose the ductus arteriosus post natally. So we have increased afterload on that right ventricle. Our right ventricular dysfunction can worsen over time. And so that's a a negative side um aspect of this change that happens at birth and then obviously, the placenta is gone. And so we increase our afterload as well because we've de we've taken away the low resistance structure of the placenta. Doctor Tota Bruso and his team here at PC H um do a fantastic job doing intervention on these Children post natally. And this is an example of a patient he shared with me of a three month old that had a vein of Galen that was detected prenatally. And what he did um as he went after this um uh aneurysmal uh structure here up through the cerebral arteries um into vascular and delivered coils into this um structure here to reduce the size of the malformation over time. So, here we are with the angiography, pre embolization and then times two stages of embolization, you can see that this structure now is barely a pacifying. So we've really taken away that um volume load that comes through the um cerebral vasculature in the aneurysmal malformation. Three months later, you don't even see it. Amazing results here that uh this patient now at three years of age has completely normal MRI Mr A with essential um complete cure of this vein of Galen malformation. And this patient's neurologically normal um attending preschool and has actually having normal development. So again, um being able to intervene post natally is super exciting. But what about prenatal intervention? Well, get to share with you this very interesting case. This is the first case in the world that was done at the end of 2022 just published this year in France of a baby that had vein of Galen malformation associated with heart failure. They did this all through ultrasound guidance, going into the uterus across the fontanella of the fetus um going into the malformation, delivering 10 platinum coils um to as you can see over here on the right side of the screen into this vein of gal malformation to embolize this. Um the baby became unstable with um hemodynamic instability. They stopped at that point, they were able to get six more weeks of gestation out of this growth. They did this around 32 weeks gestation and uh at the time of the publication and the patient was doing amazingly well. At 11, almost a year of age without heart failure, normal neurodevelopmental milestones did require two more stages of postnatal intervention. But what's exciting about this is that it's opening up the world of prenatal intervention for this disease. Uh And again, the staged approach for vein of gal malformation again, is just another example of these high risk fetal conditions that we can now intervene on prenatally as well as in that postnatal um world um to improve outcomes. So I'm gonna switch back over one more time uh to one last lesion that we're gonna share with you. All. All right. So I'm gonna talk about uh placental core gema. Now, this is a good parallel uh to what we talked about before with the sacrococcygeal teratoma. So, uh in both cases, you've got uh an abnormal tumor that is affecting a fetus inside the uterus. Um uh they have similar effects on that fetus. Uh But as we'll talk about uh has have very different implications when it comes to sort of prenatal treatment and then postnatal care. Um you can see here a couple of uh C clips um looking at the placenta, the placenta is this sort of grayish structure here. You see this sort of different echogenic mass. You can see uh through this clip here, this large umbilical vein that comes over the top of it. And then this right here coming off the end is actually uh the placental cord insertion of the umbilical cord. So you have this uh placental cord insertion where the bulk of that uh those blood vessels are going in with a large tumor next to it, you put color flow Doppler on it. And again, it doesn't look exactly like the SCT that I showed before, but it looks pretty similar. It's a large solid mass, it's got some cystic components And then the scary part of it, the troublemaker part of it is again, these immature abnormal blood vessels that are creating some level of a sink for this fetus. Um and also uh at least in some ways, probably some level of overflow as well. So you see that and again, if you see that, if you're doing prenatal evaluation, you gotta start thinking. Ok. Are we in trouble? And how do we monitor this Chioma? Relatively rare? Uh If you look at placental specimens, there's a lot of pathology, a lot of pathology that I'll say they can find these small tumors, but the larger ones are, are pretty unique. We don't see a lot of them. I think over, you know, over us doing this for well over a decade now, uh we've really only seen about a handful of them that required any level of treatment, significant risk. If you look at the first slide or one of the first slides that Doctor Limb Blade showed. If I talked about SCT it's all the same risks. It's just a different physiology. It's, it's not a different physiology. It's a different tumor or problem causing the same physiology. Fetal anemia, polyhydramnios, there's maternal risks as well and ultimately trying to avoid fetal uh compromise and death. This is again, just kind of looking at this case here, this multidisciplinary care, you've got MC A Doppler. So the peak systolic velocity is elevated, lots of different reasons for that. In this case, we're worried that that tumor is stealing blood from that fetus and is therefore causing relative fetal anemia. And so we have fetal anemia and uh some other levels of compromise. This over here is pretty striking too. I showed you that large umbilical sort of arching over the top of the tumor. You can see here this umbilical vein, I mean, is, is, is really gigantic. I mean, we're at about, I think about 25 ish weeks here. It is just this huge sort of hose going uh into the fetal abdomen. Uh showing again, you're, you're getting some level of vascular changes, uh vessel changes trying to compensate. Uh and unfortunately not being able to do a really good job of that these risk factors, almost the exact same slide as SCT. So again, establishing tumors that have lots of vascularity are bad no matter where they are inside inside the uterus. Um increased tumor size is bad placental cord insertion near the tumor is a, is a bad sign as well as I'd shown you. And then all those again, all those exact same things, Doctor Lindblade went through to say these are bad signs and, and be showing you problems of compromise. So for this case, for this patient uh came in, we can do vocal volumes as we had done before. Uh to look at the size of it, you can see across sort of different evaluations that volume is increasing. The MC A peak systolic velocity is increasing. So that either means that you have a heart that's getting overloaded, working harder and is having dysfunction and or you've got fetal anemia. The amniotic fluid index is increasing and probably showing that compensation to try to remove some of that sort of overflow. The CT ratio has increased a bit and the combined cardiac is output is increasing as well. So once we sort of got to that, what highlighted fourth thing here volume, higher MC A is going up A F I moving CT ratio increasing. And then on uh on echo, more work of that heart and some bowel dysfunction, the decision was to treat. So we talked about with SCT. No one has really given a compelling uh report yet of being able to treat that in utero. It's been attempted and again, that's another lecture in and of itself. But in this case, we have a tumor that's not directly connected to the fetus. So we have some uh we have potential intervention. People, we try different things. In this scenario, we have sort of fallen into uh using a sclerosing agent to essentially that like do a de debulking of the vascularity of it. So, on the left side here, you can see us guiding uh a 20 gauge needle through the maternal abdomen into the uterus lined up with the tumor. We then can advance that needle into that tumor, the Chioma. And through that, we actually inject pure alcohol, it's 100% alcohol. It's a as we know in medicine, that's a bad agent for blood vessels. It's sclerosing, it causes problems. So in this case, we go in, we try to not inject directly into a blood vessel. It's probably not good to do that. And so we try to inject around the blood vessel to cause that tissue necrosis. Uh and, and uh changes. And you can see in this video here, you can see that sort of ecogen change that happens with that injection of the alcohol. That's what that, that's why it's flashing like that. This is uh looking at again, same thing. We we you can't see the needle in this, but you can see this sort of ecogen area starting to kind of brighten and expand. And then when we look post treatment, we can see some pretty big changes. Now this isn't, is not immediately post op, this is after several days, but you can just tell with color Doppler that vascularity has changed significantly. We're not looking for perfection here. We're looking for improvement. We're trying to buy time. As Doctor Lindblade said with the cardiomyopathy, the vein of Galen, we talked about with SCT. We want to take advantage of that in utero environment to gain as much maturity. But you can see how that vascularity has decreased. And over here on this side, you can see there's really not what vascular at all. Uh Fortunately, those blood vessels on the outside, which are really important, fetal vessels, uh stayed patent. We didn't get alcohol uh effects on those. But you can see that that mass is different. It's smaller now. And if you look at the fetus, you actually can see uh that a lot of our markers have gotten better, the heart function improved, the mass got smaller, that umbilical vein actually got smaller. Again, you can see this ecogenicity within this mass, the MC A Doppler improved as well. And so we're, we're moving in the right direction. We're still watching close. I showed a similar slide to this before. And so we uh this slide almost looks the same as I did for SCT on the prenatal side. So you've got the placental circulation, you've got this tumor. In these cases. We do believe that there's more, there is at least some exchange back to the fetus, some overload from the tumor as well, but essentially looks the same. We need to try to help things out in if we can, the big difference in the, in the in the big help in this scenario is, is once you have delivered, right, once you have stopped the blood flow through those umbilical vessels, you've now essentially gotten rid of your troublemaker, right? We talked about with SCT, you still have to go to delivery with this tumor still causing problems in this case, the tumors in the placenta. And so if we can bridge to a gestational age, that is good enough for delivery, that is good enough for survival and hopefully help the fetus out in those regards. Once you've delivered this fetus, you're in a much better situation, you no longer have to worry about it. So you don't need an exit procedure. You don't need really any other big uh changes after birth. Um Once you've sort of cut off that blood flow. Um So in summary, with that, again, a tumor acts like a tumor inside the womb, but they're very different uh on, on how you can treat them and how you care for them and honestly, how you follow them. So just to wrap it up, uh these are, this is a placeholder slide that just talks about all the other common causes of fetal heart failure. As listed here. We've talked about several of those today. Um They're here just for your reference later on and in summary, just uh for doctor Baron and I just to summarize here. Again, we talked about several high risk prenatal cardio uh lesions that have cardiovascular consequences. And they're very unique to the type of lesion that they are. And they have different risk profiles both during pregnancy, intrapartum and then postpartum depending on where they're at in the maternal fields, placental circulation. Uh We've talked about these unique uh treatment options that we have even starting before birth through multidisciplinary care. And then this advancements in fetal imaging, fetal surgery. Um Endovascular intervention are really providing opportunities to really change the course and morbidity and mortality for these high risk uh lesions. So, uh I'd like to thank you all for your attention. Um uh I know Doctor Baron could throw up a similar list of amazing team members at Colorado. But uh again, this just really highlights it takes a village of team members and this is just the fetal cardiology aspect of our team here at PC H. And so, um I hope that uh you guys uh walk away with some good understanding from our talk today and we're happy to entertain a few minutes of questions if you have some time. Yeah. So we're happy to take any question. OK. That's Franklin. Yeah. Well, I'll start with doctor so OK, thank you very much. I'll with your video of how many hands were in that video. Yeah. And yeah, that was only the hands you can see the rest of the room Yeah, we've been about 40 yeah, 40 people on the NICU side right next door, just waiting for whatever they're gonna get that. And it seems like imaging is really key to what you guys need for timing and things like that. And, and how do you make a decision or take us through how you make that decision between doing an exit procedures? Say like an intra U uh like, like you show there? Yeah, I think um so, you know, again, highlighting, highlighting how you have to work as a team to do this. So, so exactly, right. So this slide that Doctor Lindblade has up here. Um The I think it all starts with that, that first evaluation, right? You're gonna triage, you're gonna screen and say, OK, how worried should we be about this lesion? I think a lot of it comes down to patient education as well. And so at our center, what do is for a patient with that Sacro coal teratoma? That patient would come in, have a full day of evaluation MRI uh echo ultrasound and then have a, a counseling session that includes peat surgery, neonatology, cardiology, maternal fetal medicine, usually, genetics, usually social work, we have a whole team together to put together a game plan for that patient. Um I think we have enough experience now, like I said, I would, I would feel very confident guessing that as you enter that early third trimester period, that's when you're gonna start to see that heart starting to get more strain. You're gonna start to see uh if you, if you watch it, you're gonna start to see development of fetal high drops. And so, um trying to find that exact balance. So when do we deliver? I, I don't know the right answer to that. I, I think the answer is, is once you're coming up on that 27 to 28 week mark, if you really have a troublemaker tumor, that's when things are gonna start to go. And that's where we say that balance of trying to keep things going in utero starts to be a problem. So once we start planning for exit, it comes together that patient family, if they want to be there, our team to kind of lay out, you know, how are we gonna do this or what are we gonna do? We just took care of a, a patient recently with uh also a sacred costs teratoma that was also large, but it was essentially all cystic. And so she ended up delivering a full term. We actually to get her a vaginal delivery, we did a needle drainage of the, of the cyst uh before delivery. Um and she had a vaginal delivery. And so for us again, it's not any fetus that has a large mass coming off. The sacrum needs an exit procedure like this. It is, it is what secondary effects what of my cardiologist? Tell me, you are happening uh uh to make that decision. I got one. Can you talk a little bit about the, you know, this is obviously a new field about the supply and demand. Meaning of, of like all the kids that have something that can be detected in utero, how many of them are gonna potentially, you know, 20 years from now benefit from a procedure? How many of them, like what percentage of getting it right now? And it is it more finding the patients or is it more having the the teams that are prepared to intervene? I make a quick comment on it. Um You know, I think where you're um talking is screening, right? We these patients have to be screened appropriately detected out where maybe uh in the environment and rural community, they may not have access to these to this type of evaluation. That's one of our struggles even with cardiac disease to make sure that we're getting these uh patients to the tertiary quaternary care centers for options to even be laid out for the families and the plans that have been in place um to offer to many families and, and patients. Um we want to expand that reach um as far as outcomes I you saw, you know, there's even ongoing developments in this day and age with this recent publication of the intervention prenatally for vein of Galen, like we're pushing the technology and as our medical knowledge under um is pushed our in our partners in the biomedical engineering industry to have the tools to actually do the intervention um has to continue to grow. And it's really cool to see that partnership between industry and clinical medicine to offer this. And I think time will tell as we um use these new innovative techniques of what the outcomes and how we change them. I think there are several studies and lots of experience, for example, and I'll turn this over to you Nick. Um uh in terms of what the outcomes and how we can make a difference for like SCT um intervening prenatally. And let you make it, I, I think, you know, the I I mean, I would say the uh the most ex I guess most exciting thing uh that we do are things like these videos and in these fetal procedures, the truth is is if you look at at least for our referral uh base, if you look at the amount of referrals, we get a patient actually gets a fetal procedure is like a super small part of that, less than 5% at least actually needs it where maybe it it does not as exciting uh for videos and things in a talk. But the place I think we really do make the intervention, the real intervention we're doing is doctor Limb said is by getting better at screening and using imaging techniques, we can set these babies up for success. So I think if you looked at, if you really looked at again, what we do in it at Children's Hospital, Colorado is the the really the goal of our pro is to get a great evaluation in utero and then get those babies into the hands of the pediatric specialists like right away. And part of that triage that's super important as well is like not everybody has to deliver at our hospital, right. Not every baby that has a cardiac anomaly has to deliver in children's hospital, they can deliver uh down in one of our hospitals, down south in the community and then follow up and so trying to find that balance uh of that. So you have to have good screening, you have to have good expertise. And like I said, if you really looked at it, it's a hard thing to study. But if you look at where we make the biggest difference, the biggest difference is, is getting these babies into the hands of the experts as quickly as possible. I'm sure when you take tests, I'm old enough now. I don't take many tests anymore, I guess. But like, you know, I'm sure you still take tests and you still talk about a baby comes out and has these five findings, what your differential diagnosis, we're never gonna be able to get away from that exact scenario. But I do think realistically speaking, it's not as common anymore to have a baby show up with whatever physical symptoms and now you gotta really figure out what's going on. Hopefully, you know, this is my lesion, this is the problem and you can have a better plan in place. So just like everything II I sit around and preach all the time like if we can get go from reactive to proactive in everything we do. I think we're making a big difference in medicine, right? Be proactive, be prepared, be ready for things rather than completely reactive. I think that's a good, that's a good change for design. If we got one market got in I All right. Thank you. Thank you.
