In this guide for primary care providers, pediatric cardiologist Christiana Tai, MD, breaks down the various ways heart failure may present, depending on age and underlying cause. She supplies tips for identifying the condition in infants versus older kids, showing with case examples that symptoms can be subtle, GI-related, or even nonexistent at rest. Learn how to pick up on coarctation of the aorta, and hear Tai's recommended first step in working up suspicious cases.
Thank you for the introduction. Um, I'm very happy to be with you all today. And as mentioned, I'm gonna be talking about pediatric heart failure and I'm hoping to really make this, uh, talk pertinent to outpatient, uh, primary care, uh, pediatricians. So I have no disclosures uh to report today. Um, one of the reasons why I wanted to give this talk to primary care physicians is that, um, owing to the fact that heart failure is quite rare in our population, um, Pediatric heart failure is often missed on first diagnosis. So this is a study done out of Baylor looking at their entire cohort of patients that were newly diagnosed with heart failure with a structurally normal heart um over a 1015 year period, and they found that nearly 50% of patients with new onset heart failure were missed at their first presentation and as a consequence underwent significant non-relevant treatment and testing. Um, the factors that were associated with misdiagnosis were initial presentation to the primary care physician as opposed to the emergency room, um, longer duration of symptoms before presentation, so sort of more of a subacute, um, presentation as opposed to acute fulminute presentation. And um symptoms of nausea and emesis um led to these patients being underrecognized. So I'm hoping that after today's presentation, there might be some tips or tricks that you can have that would um kind of make you think about heart failure when you have a patient um with these symptoms before you. Um, so the objectives for my talk today are to define pediatric heart failure, review its pathophysiology. I'm gonna go over some common etiologies of heart failure, um, describe the symptoms and clinical manifestations, share, uh, review some, uh, interesting cases, and share some hopefully helpful clinical pearls to you all, and give a very brief general sort of overview on how we as cardiologists manage these patients. Um, so, first off, just in terms of epidemiology of heart failure, as you all know, this is exceedingly rare. Um, so when I was preparing this talk and I was looking for statistics, the best sort of number I could see was that it affects 12 to 35,000 children below the age of 19 in the, uh, per year in the US and there was no sort of denominator given uh with that statistic. So this is rare, um, and you need a high index of suspicion to pick it up. In pediatrics, we define heart failure fairly broadly as um cardiac output insufficient to meet the metabolic demands of the the body. So this, of course, encompasses problems with the heart, so structural and functional heart disorders that impair the ability of the ventricle to fill with or eject blood, but there are also um sort of extra cardiac problems in which the heart is more of an innocent bystander. Um, and there is heart failure. So, for example, um, anemia and arterial venous malformations can lead to a high output heart failure, and, um, lesions that cause high afterloads such as hypertension, systemic hypertension, pulmonary hypertension, or obstructive lesions such as conrotation of the aorta. These are things that are outside the heart that are causing, um, heart failure. Um, I think that the, that heart failure is best understood when you think about the pathophysiology first of the normal, uh, working heart. So you can think of the heart as two pumps in series. So, on the right side of the heart, we have, um, the right heart that receives deoxygenated blood from the body into the right atrium. Uh, passing it to the right ventricle, which pumps the blood to the lungs. And then in the lungs, the blood picks up oxygen and returns to the left atrium, um, to the second pump in a series, um, going to the left atrium, the left ventricle, and out to the body. So it's really just two pumps that are connected to each other in series. So, um, as a cardiologist and physiologist, when I think about what makes a pump fail, um, I think of three main problems, increased preload, increased afterload, and just bad myocardium leading to poor contractility. I'm gonna skip the increased preload part first and talk about increased afterload and um uh and poor contractility because these are more intuitive to understand. So, as you can imagine, if you have a pump and there's obstruction to that pump, um, that that pressure is gonna back up and cause the ventricle to fail. So, for example, coarctation of the aorta is a problem outside the heart, but for example, severe aortic stenosis could also do this. Um, if there's obstruction to blood flowing out of this ventricle, the ventricle is gonna be under stress and it's gonna, it's gonna fail. Um, bad myocardium or poor contractility is also, um, fairly intuitive, so, um, in the adult world, this is the predominant cause of heart failure through, you know, ischemic heart disease leading to poorly functioning myocardium. In pediatrics, we think a lot more about the genetic cardiomyopathies. So this is sort of a zoom up cartoon of the cardiac sarcomere. You can see the various proteins that make up this cardiac sarcomere. Um, a mutation in any one of these proteins can lead to a cardiomyopathy because on a molecular level, the sarcomere just doesn't work very well. Also under this category are, um, toxins, infections such as myocarditis, infiltrative disease such as sarcoid. Um, and also, you know, for example, chronic hypertension can lead to left ventricular hypertrophy, which, uh, leads to poorly functioning myocardium. And when we think about, um, uh, uh, when we think about bad myocardium and having poor contractility, we also kind of think about is it, uh, diastolic dysfunction or is it systolic dysfunction. So the pump has to open and relax to receive blood. So is it a problem with opening and relaxing and diastolic dysfunction? So, going back to um increased preload, which, as I mentioned, I think can be a little bit less um intuitive to understand, um, and um this can be confusing because um increasing preload is an initial adaptive response to, to heart failure. So, you know, whenever a patient is shocky and they're having low cardiac output, one of the first things we do is volume resuscitation, for example. Um, but this can lead to problems, um, if you, if there is too much preload. So, um, um, so in the context of congenital heart disease, when there are patients who have AV valve regurgitation or septal defects such as a large VSD, it's the blood that's sloshed. back and forth or going um inefficiently in the circulation that causes the heart itself to stretch. So you can think of the heart sort of like a rubber band. It has an optimal kind of stretchiness and um you know, if you pull it a little further, then it'll snap back. Um, a little faster, but you reach a point where you sort of overstretch it and you damage the actual elastic, um, and that causes the heart to be dysfunctional. So you have sort of an optimal normal resting length, um, and then beyond a certain stretch, you, it just leads to LV dysfunction. So, as mentioned, there are lesions such as anemia, arterial venous malformations, um, septal defects that causes increased preload. But increased preload is also sort of an end um pathway to um sort of a final mechanism to cause additional heart failure symptoms in patients who have um increased afterload and poor contractility. So this is mediated through, um, um, this is mediated through activation of the renin angiotensin aldosterone system. So say here you have heart failure for some other cause, increased afterload or poor contractility. This leads to decreased renal perfusion, which activates the renin angiotensin aldosterone system leading to fluid and uh sodium retention. So say you're over here, um, and you have a normal, um, just say this is where your normal resting length is, you want to augment your cardiac output. Um, this X axis here is your preload, your ventricular and diastolic volume, so you activate this renin angiotensin aldosterone system. And you um are able to reach this optimal sarcomere length where your stroke volume is augmented, but when you move beyond this point of optimal sarcomere length, this is when you start to get to um LV dysfunction. So, um, and, and cardiomegaly. So this, um, uh, becomes maladaptive and, um, that happens through sort of a couple of pathways. So one is chronic activation of, um, the renin angiotensin aldosterone system leads to adverse cardiac remodeling, so you can get a lot of fibrosis, um, And uh a lot of cardiac fibrosis and then also when you overstretch the heart, what's not on this diagram is um you get increased diastolic pressure. The increased diastolic pressure will lead to the secretion of BNP, which is, um, brain natriuretic peptide. Um, this is, this is actually a helpful peptide in heart failure because it, um, uh, it lets the body waste sodium, uh, in the hopes that free water will follow, so it kind of counters this, um, red and angiotensin aldosterone system. And so we use BNP a lot in heart failure to kind of um track sort of where they are on this Frank Starling curve, sort of how far beyond the optimal sarcomere length or how overstretched um the, the ventricle might be. So, um, going back to the etiologies of heart failure and pediatrics, if you take, you know, a table from up to date, for example, and you look at all the different causes of heart failure, you can sort of break them down into their main Mechanism of, of action. So for congenital heart disease, we talked about the left to right shunts, um, the regurgitant lesions. These cause increased preload. There are also increased afterload lesions such as corocation of the aorta, aortic stenosis that can cause increased afterload. And then, um, in congenital heart disease, there's an entity called Alkappa that I'll talk about more in a few slides that is a coronary anomaly that can lead to ischemia. The cardiomyopathy, this primarily causes heart failure through bad myocardium. In our cancer survivors, um, who might have had a lot of anthracyclin exposure, they can develop heart failure because of, um, uh, poorly functioning myocardium. Um, ischemic heart disease in pediatrics, we talked about El Kapa already. In addition, our patients who have had history of Kawasaki disease or who have familial hyperlipidemia, these patients might have premature coronary artery disease. Um, under the erythmogenic category, um, if a patient has incessant or excessive ectomy, this can lead to the, the myocardium not working well. Um, under infectious and inflammatory, you have rheumatic heart disease, endocarditis, um, primarily resulting in valvar dysfunction or increased preload. Myocarditis is inflammation of the heart muscle, making that heart muscle, um, not work very Well. And then there are non-cardiac causes as mentioned, so arterial immune malformation, severe anemia. These lead to increased preload. Renal failure can lead to increased preload and afterload sort of depending on your volume status, um, and how the kidneys are working. Um, hypertension, pulmonary hypertension or increased afterload and then sepsis, um, sepsis itself can, uh, cause myocardial dysfunction. Um, so, you know, as mentioned, you know, this is sort of loosely. Placing these etiologies into various categories, but really in um these, these factors all interact. As mentioned, increased preload is sort of a final um additional uh like uh a thing that happens when you have heart failure from other causes because the body is trying to compensate. And really, as a cardiologist, when I'm evaluating a patient with heart failure, I'm sort of thinking about these three components because we can target each one of these components with medication and, and therapies. Um, so moving on to the symptoms of heart failure and the clinical findings that you might see, these are also um easy to understand when you think about the heart as um the two pumps in series. So let's first look at our right pump. So if you have right heart failure, this can lead to systemic venous. Congestion. So, um, in kids, this primarily manifests as hepatomegaly because the liver is, is right here, um, you know, connected to the IVC. So, um, they'll have hepatomegaly, they'll also have congestion in their abdominal organs leading to anorexia or vomiting. Um, the older kids will have jugular venous distention or pedal edema. Um, if your right heart's failing, you might also have decreased pulmonary blood flow leading to cyanosis if you have a right to left shunt or poor systemic perfusion, um, or syncope because none of that blood is getting to the left ventricle. Um, I will say that right heart failure in isolation is rarely a cause of decreased pulmonary blood flow because, um, you know, as you You can think about our single ventricle patients who have fontan physiology. Their, um, systemic veins are directly hooked up to the pulmonary artery. It turns out you don't really need a pump to pump to your lungs, um, but this is, uh, what we see when there's pulmonary hypertension or severe right ventricular outflow tract obstruction. Um, looking at the left heart, so what are the symptoms we can see when there's left heart failure. So this would cause blood to back up into the pulmonary veins. This, this makes your lungs sort of heavy and wet. Um, it makes it difficult to breathe. So this is why the babies will have increased work of breathing or tachypnea. Um, if the backup into the lungs is significant, this can also cause right heart failure because again, past the lungs, right in front of the lungs is the right ventricle, so all that pressure can be transmitted backwards. Um, if your left heart is failing, you can also have, um, decreased systemic blood flow manifesting as poor systemic perfusion, low cardiac output, syncope, fatigue, um, and, and shock. Um, so, as I was alluding to, these symptoms of congestion and perfusion can look a little different depending on which age group you're looking at. So, in the neonates and infants, Um, uh, congestion can manifest as high drops. So in a newborn baby with high drops, that could be a sign of, um, heart failure in the fetus. Um, it can look like inability to wean off positive pressure. So our premature babies in the NICU who have large PDAs, oftentimes they're, they're stuck on CPAP or They're intubated. Um, and because, you know, babies have less respiratory reserve, their increased work of breathing, um, is, uh, manifest through tachypnea, retractions, increased work of breathing, and they're expending so many calories just trying to breathe that they can have, um, poor feeding and, uh, poor weight gain. The signs of poor perfusion can manifest as shock and lethargy. Um, sweating with feeds is, uh, particularly something specific to this age group, so you could think of an infant, um, uh, when they're feeding, that's essentially like their stress test. So, you're, um, at baseline, they might be compensated with their heart failure, but you add the stress of feeding on top of that, that leads to adrenergic activation, um, and sort of a cold sweat. They can be modeled in appearance, and have poor perfusion and cool extremities, and really the exam in this baby, um, the most important thing to assess is for hepatomegaly, their work of breathing, and their perfusion. In, um, older children, um, the systemic venous congestion manifests a lot of GI symptoms, so all that blood backing up into the liver and then the abdominal organs, so abdominal pain, nausea, vomiting, and poor appetite. They can also have poor weight gain, but it's not as marked As the infants and neonates. The pulmonary venous congestive symptoms can manifest as chronic cough with wheezing that might be misdiagnosed as asthma. So because they have increased respiratory reserve, you won't necessarily see the increased work of breathing or they might just have tachypnea without any retractions. The poor perfusion, um, so that can look like shock, lethargy, mottled appearance. They can complain of easy fatigueability. Um, they can have cold hands and feet, so it's like, you know, the mom is saying that their hands and feet are always cold. Um, and again, the exam here is looking for hepatomegaly. Um, you, um, should look for tachypnea. You probably won't see retractions unless they're very ill and then also looking for perfusion. Adolescents tend to have a more adult presentation of heart failure, so their congestive symptoms, so the systemic venous congestion can look like edema, increased jugular venous distention. Um, they can also have anorexia, so backing up into the abdominal organs causing those symptoms. They can have dyspnea on exertion and orthopnea, so when they, there's so much fluid in their lungs, but when they're upright, the fluid doesn't bother them too much, but when they lay down, they get short of breath. Um, the poor perfusion can manifest as exercise intolerance. Somnolence, chest pain, syncope, shock, altered mental status. And again, the exam, you know, whereas suppose, uh, whereas in younger children, we're really focused on the liver, um, in adolescence, you're looking for jugular venous distension, peripheral edema. I still do check for a liver on, on everyone I examine. Um, and then the respiratory exam, looking for pulmonary venous congestion, you're probably, again, you're probably not gonna see increased work of breathing. You might see some subtle tachypnea, but you're listening for rolls and crackles and, and you're also assessing perfusion. So, um, I just wanted to, um, emphasize once again, this is a table from that paper that I shared about the missed diagnosis of, of heart failure on first presentation. I think that, um, you know, it's very intuitive to link respiratory with cardiac, but I think that what we lose track of is that the systemic venous congestions of loss of appetite, Abdominal pain, nausea, and emesis um are signs of heart failure. And these, and when patients presented with these, um, you know, it can kind of be a red herring. There are so many other problems in pediatrics that lead to these findings. But these were the symptoms in this, um, in this study group that was just statistically significant to be related to a misdiagnosis of heart failure. Um, I also wanna mention that in our pediatric population, there's a couple of important time points in cardiac physiology that can, um, that can be associated with, um, certain congenital heart defects leading to heart failure. So the PDA And, uh, the normal PDA generally closes between 2 to 5 days of life, more generally like 2 to 3, but some, some babies are a little bit later. And this is the time period where you can unmask, um, left side obstructive lesions that are ductal dependent for systemic blood flow. Um, I will say though that in patients with congenital heart disease, a lot of times the PDA tends to close much later. So you can still, um, diagnose congenital heart disease or, um, left side obstruction, um, weeks later or even months later, um, in these patients and the duct can still be a tiny bit open or the duct can be closing very late. Um, at 2 to 3 months of age, um, this is the period of time where babies will Um, have their drop in their pulmonary vascular resistance and they also develop physiologic anemia. So remember, anemia is, uh, you know, anemia can cause like a mild high output heart failure, so sometimes under the stress of both the pul vascular resistance dropping, developing a little bit of anemia, your left to right shunt lesions can worsen. So you might be following a baby with a large VSD and they're completely asymptomatic, but then when they hit this age, they'll start to become symptomatic, huff and puff, and their growth starts to drop off. This is also the period of time where um uh al kappa or anomalous left coronary artery from the pulmonary artery can uh present and this is due to um flow reversal in the left coronary from the dropping PVR and more to come about this later. Um, so with this, I wanted to move on to a few cases, um, across different, um, age groups, just kind of look at how these, um, how these lesions can present. So this is a baby I took care of a couple of weeks ago. It's a seven week old term male who, um, was sent to the ED by their pediatrician for increased worker breathing with feeds. So the baby had had a lactation appointment in the morning. And was breathing fine before feeding and then sort of while feeding would become progressively labored and then at the end of the feed was working hard to breathe, um, but was not sweating. Mom was mostly breastfeeding, supplementing with some breast milk and formula. Um, the baby was born slightly IUGR weight at the 4th percentile, and then, you know, last week at 6 weeks, they started uh fortifying the feast for increased calories. Um, nothing really else remarkable about the neonatal period. However, there was a brief period of observation for, um, TTN and some phototherapy for jaundice. Um, and the baby passed the congenital heart disease screen on day of life 3 with fully full saturations in the upper and lower extremity. So, on exam, um, the baby was found to be hypertensive in the right upper extremity with normal saturations. It was a kind of a thin infant, sleepy, um, a little bit lethargic, but when absurd with the exam. Um, the heart was regular. There was a sort of subtle high pitched murmur at the apex. Um, the respiratory exam, so by the time I saw the baby, the baby was mildly tachypnic, um, even at rest with mild subcostal retractions, and they did worsen with feeding. Um, there was no hepatosplenomegaly. The extremities were warm, um, and there are prominent upper extremity pulses, um, but the lower extremity pulses were difficult to palpate. So just based on this exam, um, we have a suspicion for, um, you know, some sort of coarctation of the aorta or left side obstruction with a different difference between the pulses in the upper and lower extremities. Um, it's just sort of interesting to note, so the lung exam shows some signs of pulmonary venous congestion, but there's no signs of systemic venous congestion because there's no hepatosplenomegaly. So this is sort of a more, um, sort of a more mild case where the left heart, um, failure or the left heart symptoms has not yet affected the right heart. Um, so this is the baby's X-ray. You can see there's cardiomegaly. There's increased pulmonary vascular markings, so this is the, you know, the pulmonary venous, um, congestion that, um, that we see also clinically by the feeding symptoms and that we see on exam with the work of breathing. Um, the baby had an EKG done and what was remarkable about this EKG, if you look at these precordial leads, um, usually, um, babies will have right-sided forces because the right heart is the systemic ventricle in the fetus. Um, and we look for those in the right precordial leads of V1. But in V1, everything is almost all negative. So the just the, the, the left, the left heart forces are just really prominent because the left heart is squeezing so hard against the correctation. Um, so an echocardiogram was performed. So here we have a four-chamber view. Um, this is the right atrium, uh, right atrium, right ventricle, left atrium, left ventricle, you could see the left ventricle is dilated and, um, there's, um, you know, moderate systolic dysfunction. The right heart looks fine. And then when we look at the arch views, um, the ascending transverse arch looked fine, and then, um, here at the isthmus, the arch really tapers off with color, we see that there's flow acceleration by color Doppler across here indicating there's significant stenosis. So, um, you know, as mentioned, this baby has corotation of the aorta. Um, this can have variable clinical presentation, so we've all heard about the babies who present in shock when the PDA closes, but, um, again, with less severe obstruction, they might not present in shock, they might just have this sort of subtle heart failure picture that we, um, see in this patient. Um, older infants and children can, um, be completely, you know, asymptomatic, but on careful questioning, they might report chest pain or cold extremities or claudication, um, in their legs when they exercise. And then I just wanna share, you know, a clinical pearl, um, that corocation of the aorta is one of the critical congenital heart diseases that is missed by the pulse ox screen. And I'm gonna take the next couple of slides to sort of go over why that might be. Um, so this is a diagram of a normal heart. Um, so on the right side, we have blue blood, deoxygenated blood, and on the left side, we have red blood or oxygenated blood. So when you do a pulse ox screen, you're measuring the Saturation in the right hand which um comes off of the right subclavian artery and in most cases is the most proximal artery to the uh to the, you know, to the heart on, on the aorta. So we're checking the saturation that we believe to be the most preductal. And then we're checking your saturation in the foot which is always coming off um postductally. So, at birth, the PDA is open. This is the PDA right here. The baby takes its first breath and pulmonary vascular resistance drops. So this makes the PDA shunt left to right. So, in this normal situation, your right hand saturation will have fully red blood, so be fully saturated. Your leg will also have fully saturated blood and they should be equal to each other. Then at 2 to 3 days of life, this duct closes and your right hand and your leg should still be fully saturated and equal to each other. So now let's look at how you can fail a pulse ox screen. So as you know, you could fail a pulse ox screen in 3 ways, um, in the pattern of differential cyanosis, where your right hand has a higher saturation than your foot with reverse differential cyanosis, which is The reverse case where the foot is higher than the hand, or you can fail for sort of global desaturation where your foot and your hand have the same saturation and they're both low. And then there's, you know, criteria with how, how, how much time is separ how, um, when you do your measurements separate in time and what the absolute numbers are to fail. But if you have cooration of the aorta and you are gonna feel Your pulse ox screen. Um, these patients always fail in the pattern of differential cyanosis. So let's look at that a little bit closer. So, say we have a baby, we, um, this is a mystery baby. They haven't had an echo yet, so we don't know what's going on inside their heart. In order to have differential cyanosis, where the right hand has a higher sat than the foot, you must have a PDA open that is shunting right to left. So this would give you the pattern of um differential cyanosis and this implies that the left heart is deficient in some way. So maybe there's aortic stenosis and that blood can't pump all the way up and over around the arch or maybe there's a problem with the arch itself that it's interrupted. Um Um, such that the, the blood to the foot is partially supplied by this ductus arteriosis. Of course, far more common and also on the diagnosis, uh, often, um, far more common and also on the differential is pulmonary hypertension, so blood coming out of the The right ventricle, which is deoxygenated, is in the main pulmonary artery and it can make a decision to go to the lungs or cross the PDA. If there is elevated pressure in the lungs with pulmonary hypertension, it can also cross the duct and cause you to fail the pulse ox screen and with the pattern of differential cyanosis. So why is it that coarctation of the aorta can fail this pulse ox screen? Um, the reason why is because there is a lot of variability in the anatomy and severity of coarctation. So, um, in the very severe coarcs that where the arch is nearly interrupted, while the PDA is, is open, the lower half of the body is gonna be supplied by the PDA. So these are your severe cases, this will result in a fail. But your less of your coarcs, while the isthmus is, um, the isthmus, the, the isthmus, which is the distal part of the aortic arch, is gonna be adequate while the PDA is open. So you can see that the PDA kind of inserts, um, in, uh, close to where the normal, um, aortic isthmus is. And so in these cases, while the PDA is open, the isthmus is adequate, the PDA is actually gonna be shunting left to right in the normal way. These patients often have um some invasion of ductal tissue into their arch, such as what such that when the PDA closes in a few days, that ductal tissue in the aortic arch also constricts and then this is what leads to the correctation. So, um, again, I can't stress this enough, just important to, to know that cohortation is not, is, is, um, not, um, is often missed on this screen. Um, so, uh, just coming back to our baby, so the baby was admitted to the cardiac ICU. The assessment of end organ function and lactates were all normal, so, you know, indicating that the baby was, um, was the coactation was not, um, super severe. PGE was not started because the PDA was already closed, and then the baby underwent, um, surgical repair the next day and is now doing well. Um, so the next case I want to present is also a baby. This is a 3 month old term baby who was fine at their 1 month visit and fine at their second month visit, but is coming back to the pediatrician at 3 months, um, um, you know, earlier than the, the normal 4 month period because what the parents have noticed is that the baby is profusely sweating and really having trouble with feeds for the last month. So, um, taking a long time to feed is very labored with feeds and irritable. So it used to take the baby, you know, maybe, you know, 15 minutes to feed, and now it seems like the baby's taking half an hour. Um, the breathing is getting progressively labored. Um, the baby's tachycardic and tachypnic on exam, um, with, uh, mild retractions and There's a low pitched polysystolic murmur. There's also hepadomegaly on exam. So we're seeing evidence of pulmonary venous, um, congestion with the tachypnea and the work of breathing. We're seeing evidence of systemic venous congestion with the padomegaly, and we see low output with, um, you know, with the sweating and the, um, Um, the, the, with the sweating with beads. So an EKG was performed which was remarkable for deep Q waves in the lateral leads. So this downward deflection here in 1 V5 and V6. And there was also STT wave um abnormality. So T wave inversion here in lead two and ST elevation in V3. So this is overall pathomonic for the finding of L kappa, which is an anomalous left coronary artery from the pulmonary artery. Um, and it was confirmed on echocardiogram. So this is the aorta here and then this is the left coronary here. The left coronary ought to be connected to the aorta here. Sometimes that can be hard to see because these babies are so small and what we look for, um, is also to make sure the flow, um, the flow in the coronary is in the right direction. This coronary blood flow should be blue or going, you know, away from the probe, but it's actually red and it's flowing towards the pulmonary artery. Um, so just in, um, diagram form, which is a little easier to understand. So this is the aorta here. In the normal heart, the right coronary and the left coronary arise from the aorta, but in our kappa, this left coronary artery comes from the pulmonary artery and the coronary receives deoxygenated blood. So, the main problem with this lesion isn't so much that the coronary is getting deoxygenated blood which, um, you know, really is It is suboptimal, but it's not, it's not that bad. Um, the problem is when the pressure in the pulmonary arteries drop at that 2 to 3 month period, the blood flow will actually goes backwards and there's coronary steel from the heart into the pulmonary artery. So, these patients present very, very sick. The irritability with feeds is sort of um the infant version of angina. Um, this is um a medical surgical emergency. There's really nothing you can do for the baby from a medical standpoint. They need to go emergently to the operating room for repair. Um, I wanted to next present a case of, um, a slightly older child to see how that presentation might look different. So, um, this child, uh, was a 4 year old that, um, that came to, um, uh, that, that was seen by one of my partners a couple of years ago, was referred by the pediatrician for murmur and came to this, um, cardiology appointment, unfortunately with the non-primary caregiver. So, it was described as being generally not really active, but there is no cyanosis, no poor weight gain, no chest pain, no dyspnea. Um, child has had normal growth and development, um, may maybe wheezed in the past and has an albuterol prescription. Um, the vital signs were normal. The breathing was normal. There was no signs of respiratory distress. Um, there was a 2 out of 6 medium pitch hall systolic murmur at the left lower sternal border, but the abdominal exam was unusual and the liver edge was palpated 3 centimeters below the right costal margin. So, here we have signs of systemic venous congestion, possibly this history of wheeze and albuterol use might be a sign of pulmonary venous congestion. So, an EKG was performed, that was um very abnormal. So here we here, here what I circled is the P wave and V1 and the amplitude of the voltage is very big and it's also bidirectional. So this is a finding of biatrial enlargement. And then in the lateral leads, um, we see prominent voltages in V6 and there's also ST depression and T wave inversion. So this is uh left ventricular hypertrophy with a strain pattern. Um, an echocardiogram, um, was performed. This is again the four chamber view, so right atrium, right ventricle, left atrium, left ventricle. And um this, this is a sign that um we call the Mickey Mouse sign where the atria are really large and, you know, essentially the same size if not larger than the ventricles. This is um papnemonic for restrictive cardiomyopathy. So this is a problem um primarily in relaxation of the ventricle. It can't open and accept an adequate volume of blood and because of that, the diastolic pressures are really high and the pressure backs up into the atrium. So it's a problem primarily with um diatole and actually the systolic function is often preserved. So, um, this patient was then urgently referred to the heart failure clinic, um, where they were with, um, where they were able to attend with the primary caregiver, and then lots of other things came out in the history. So, 5 months prior to presentation, the child had, you know, quote unquote gastroenteritis with a lot of GI. Symptoms. And then since then, just seems like she doesn't want to run anymore. She was always sort of slower than her friends, but now she's getting tired after walking half a block. She's also getting pickier about food, not wanting to eat dinner. And then a week ago was um really tired and stayed in bed a lot, um, decreased appetite. She seems to be using her inhaler a lot more, so maybe more pulmonary venous congestion, and she's also quote unquote fighting urination, um, which to me it's just showing, you know, activation of the red and angiotensinaldosterone system that um is retaining, um, free water and sodium because the heart is trying to augment its cardiac output. So, um, the patient had, um, really worsened, like the trajectory of the course was worsening between the time they saw the general cardiologist and the heart failure specialist, and given that trajectory, trajectory, um, the patient was, uh, direct admitted to the cardiac ICU and actually needed, um, uh, that implantation, so, um, a ventricular system. Device and she needed a bivalve, so an assist device for the right ventricle and also the left ventricle. She eventually underwent heart transplant and is doing well. The genetic evaluation on this patient um turned up that she had a pathogenic mutation for the beta myosin heavy chain, so one of those many proteins that makes up the cardiac sarcomere. So she had a genetic cause for her restrictive cardiomyopathy. Um, this is my last case, and I just wanted to pick a case of, um, a teenager to see what that might present like. So this is a 16 year old who, um, recently, um, moved to the Central Valley, and it was during summer, so it was extremely hot and maybe, um, was not used to that climate or You know, that, that was what the thought was and hadn't established with the primary care physician yet. So I was coming in to the emergency room with um with some respiratory symptoms and um in retrospect, had had shortness of breath and decreased exercise tolerance for the past 3 months that was attributed to this change in environment. Um, in the past month, had had significant orthopnea, you know, used to sleep in bed and had, um, you know, 2 pillows and then And then, um, in the last week was sleeping on the couch because he wanted to prop himself upright. In the last month, he started eating smaller meals, had decreased appetite and weight loss, and then a week ago was vomiting with his meals and also having some um left-sided chest pain. So, this was actually his second presentation to the ED. His first presentation to the ED was 5 days ago. Where he had the shortness of breath, chest pain, tachycardia. They, um, sent a viral panel and a COVID panel. They had a chest x-ray that showed some infiltrates, so he was, um, diagnosed with pneumonia and started on azithromycin and amoxicillin. He was returning now 4 days later because he didn't improve. Um, he had, um, significant wheezing on exam. He received some fluid boluss, um, and then, you know, a pretty intense, um, um, asthma exacerbation sort of treatment with albuterol, mag, and steroids, and he was started on BiPAP. Um, so at this point, I think they, they re-examined their chest X-ray a little more closely and noticed that he had significant cardiomegaly. They checked a troponin, which was normal, and then they checked a BNP again, BNP being a marker for heart failure and cardiac stress, and that was elevated at 616. Um, so, on physical exam, he's afebrile, tachycardic. Um, he was very tachypnic at this time. He was sitting straight up in bed in a ninety-degree angle. He had increased jugular venous distention. Um, his cardiac exam was, um, he had mild tachycardia and a gallop. Um, and, um, on respiratory exam, he was coughing and tachypnic with mild retractions, um, and faint wheeze. Um, on the abdominal exam, he had, um, hepatomegaly with his liver edge palpated 3 centimeters below the right costal margin, and then he had some pitting edema. So here with the JVD, the pitting edema, the hepatomegaly, we're seeing signs of systemic venous congestion, and then with the respiratory symptoms, we're seeing evidence of the pulmonary venous congestion. So here on the left of the screen is his first chest X-ray and his first presentation to the emergency room. So you can see there's cardiomegaly and that, that infiltrates that was diagnosed as pneumonia but it's probably just pulmonary edema and then this is when he came back, um, and, and you can see that with perhaps the volume or maybe he was just worsening, um, that, uh, the, the pulmonary venous congestion is just, is just worsened. So, he was transferred um to a tertiary care center and um had an echocardiogram. Um, here again is the four chamber view. You can see that the left heart is dilated and poorly functioning. Um, he was started on inotropes, um, diuretics, and milrenone, and during this hospitalization was actually able to transition to oral medications and, um, and be discharged. There's a genetic evaluation that revealed a strong family history of dilated cardiomyopathy, including a sister who lived in a different country, but at age 15 was Started having some heart problems and then there were several extended family members that um had died in their teens, 20s, and 30s of, of various cardiac causes. His genetic evaluation ultimately wasn't, wasn't super satisfying. There were multiple variants of uncertain significance that were identified and because the family sort of lives in many different locations. Um, there, the, the under the genetic cause of this, this patient's dilated cardiomyopathy, like specifically which gene is not completely clear. So he did OK at home for a few months and then um in the setting of coming down with the flu, he had a heart failure exacerbation and was admitted again to the hospital. He ultimately underwent a left ventricular cyst device, so just um just a, just an assist device for his left ventricle and ultimately also needed a heart transplant. Um, and is, um, is now doing well. Um, so, I was gonna just talk very briefly about the treatment and management of heart failure. Um, so, of course, you can see that there are various causes and of course, the congenital heart diseases, we, um, we, we generally repair those for the VSDs. We can do things like diuretics. We can try to minimize pulmonary, um, overcirculation by avoiding, um, Avoiding supplemental oxygen, avoiding pulmonary vasodilation, but ultimately some of these patients will need to be repaired. Otherwise, um, as mentioned, for patients with heart failure, we're sort of critically assessing what their preload is, what their afterload is, and what their contractility is. So we do this by asking ourselves, is the patient, um, wet or dry? So are they are they having findings of Congestion or not, and if they're congested, we, we, we give them diuretics and then we ask if they're warm or cold or what their perfusion is. So if they're, if they're cold and clamped down, then we can give um a medication called milronone that leads to pulmonary uh that leads to systemic vasodilation and also helps a little bit with lusotropy and this just helps decrease the afterload on the heart. Um And, and then as able we transition them to an oral afterload reduction agent such as an ACE inhibitor, um, and more recently we have a new medication called Entresto which is um pretty promising. Um, if the patient has poor contractility, we can support with inotropes, um, but, you know, most inotropes are IV medications, so, um, there's not a great, um, oral version of that. Once the patient is in complicated heart failure, so they're in this warm and dry mode, they're typically on a cocktail of an ACE inhibitor, um, for afterload reduction, a diuretic for preload um reduction, and then the beta-blocker and the spironolactone, these are to sort of prevent the adverse, um, maladaptive remodeling of the heart from chronic activation of the renin angiotensinaldosterone axis and also chronic adrenergic, um, activation. Um, so one of the newer heart failure medications that um has been used in the adult world but is now um starting to be used in the pediatric world is, again, this medication called Entresto. It's, um, it's made up of a, um, of an angiotensin receptor blocker, so sort of similar to an ACE inhibitor that lowers blood pressure, but the other half of it is this, um, drug called Acubitril, um, which is a necrolysin inhibitor. Neprolysin is, um, a molecule that degrades BNP, so it's just sort of interesting this Entresto inhibits the degradation of BNPs, letting, letting the heart's natural BNP stay in the body longer and, and, and do its thing, um, and, um, that has actually really improved outcomes for, um, our patients. Um, so just a summary of sort of the take-home points that I think are important for the outpatient, um, primary care pediatrician, um, just again, coordination, um, to be on the lookout for in newborns and in very young infants because it's missed by the congenital heart disease screen. Um, it can present in shock again with ductal closure, so we're always very happy to see, um, newborns that have any sort of suspicion that something might be wrong, be it a murmur or, or, or something else, um, in the outpatient clinic. And, but it can also present at several months of age with more insidious symptoms. Um, again, um, You know, the heart failure assessment just to really focus in on um thinking about signs of congestion and perfusion. So, really, you know, when I, when I'm thinking about a patient with heart failure, whether or not there's a murmur is sort of the least important part of the exam. What I'm really looking at is hepatomegaly, edema, jugular venous distension, and work of breathing. Again, these findings can be variable by age. Um, good history taking is really important because the heart has such tremendous ability to compensate. So when we assess patients in our clinic, they're at rest, they're not exercising, they're not taxing themselves. So many of these patients will be pretty asymptomatic at rest. But you really wanna ask about how they've been doing at home, what their exercise tolerance has been, is that changing, um, and, um, you know, have they been having, um, any GI symptoms? And again, just to emphasize that persistent GI symptoms, we don't usually correlate with the heart, but this is an often missed sign of systemic venous congestion. If you have a patient that you're suspicious of, I think, um, a great um easy first-pass screen is a chest X-ray to assess for cardiomegaly. Um, remember we discussed that increasing preload is sort of the final pathway that patients with heart failure, their bodies try to compensate for their heart failure. Um, you can also consider an EKG or checking a BNP, um, but, um, you know, an EKG there's often just non-specific findings. Um, it might not, um, it might not be illuminating, um, and then BNP you need to be cautious with because there's different normal values depending on your age group, so it can be a little difficult to diagnose. Um, but at the end of the day, you know, um, we at UCSF, the pediatric cardiologist, we're really just a call away. It's really easy to get a hold of the on-call doctor through the access center and we're happy to talk to you guys about any patients, um, or any concerns that you may have.
