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 of 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 baya 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 uh presentation as opposed to acute minute presentation and um symptoms of nausea and nemesis uh led to these patients being under recognized. 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 from my talk today are to define pediatric heart failure. Review its pathophysiology. I'm gonna go over some common ideologies 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 and 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 f 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 afterload such as hypertension, systemic hypertension, pulmonary hypertension or obstructive lesions such as Cort 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 a 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, increase preload, increase after load and just bad myocardium leading to poor contractility. I'm gonna skip the increased preload part first and talk about increased afterload and um um 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 pa that pressure is gonna back up and cause the ventricle to fail. So for example, coert 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 a cardiac sarcomere. You can see the various proteins that make up this cardiac sarco. Um a mutation in any one of these proteins can lead to a cardiomyopathy because on a molecular level, the Sarre just doesn't work very well. Also under this category are um toxins infections such as macros 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 mad bad myocardium and having poor contractility, we also kind of think about is it a diastolic dysfunction or is it cysto dysfunction? So the pump has to open and relax to receive blood. So, is it a problem with opening and relaxing and diastolic dysfunction or is it a problem with the heart squeeze or cysto dysfunction? So, going back to um increase 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 gout, but 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 a V 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 if this leads to LV dysfunction. So, as mentioned, there are lesions such as anemia, arterial venous malformations, um septal defects that cause this 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 ren and tens and 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 red and angiotensin aldosterone system leading to fluid and uh sodium retention. So say you're over here. Um And you have a normal um s say this is where your normal resting length is. You wanna augment your cardiac output. Um This X axis here is your preload your ventricular Andy volume. So you activate this angiotensin all doone 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 lb 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 red and angiotensin, all doone 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 natural 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 R and angiotensin all doone system. And so we use BNP a lot and heart failure to kind of um track sort of where they are on this Frank Starling curve sort of how far beyond the optimal SAR kir length or how overstretched um the the ventricle might be. So um going back to the ideologies 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 co operation of the aorta aortic stenosis that can cause increased afterload. And then um in congenital heart disease, there's an entity called Al Ka 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 anthracycline exposure, they can develop heart failure because of um uh poorly functioning myocardium. Um ischemic heart disease and pediatrics. We talked about al capa 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 arrhythmogenic 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 valve or dysfunction or increased preload. Myocarditis is inflammation of the heart muscle, making that heart muscle um not work very well. And then there are noncardiac 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 unless sepsis. Um sepsis itself can uh cause myocardial dysfunction. Um So you know, as mentioned, you know, this is sort of loosely placing these ideologies 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 pumps. So if you have right heart failure, this can lead to systemic venus 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 is failing, you might also have decreased pulmonary blood flow leading to CINO 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 metrical 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 could 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 spending 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 a 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, um have poor perfusion in 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 as G I 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, 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 to keep me out without any retractions, the poor perfusion. Um so that can look like shock, lethargy, modeled appearance. They couldn't complain of easy fatigability. 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 they are congestive symptoms. So the systemic venus congestion can look like edema, increased regular venus 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, somin chest pain, syncope, chalk, alter mental status. And again, the exam you know where I suppose, uh whereas in younger Children were 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 rawls 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 venus, congestions of loss of appetite, ab 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 want to 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 PD A and uh the normal PD A 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 PD A 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 duc 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 p vascular resistance dropping, developing a little bit anemia, your left or 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 Ka 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 PV R 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 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 fourth percentile. And then, you know, last week, at six weeks, they started uh fortifying the fees for increased calories. Um Nothing really else remarkable about the neonatal period. However, there was a brief period of observation for um TT N and some phototherapy for jaundice. Um and the baby passed the congenital heart disease screen on day of life three 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 would serve 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 to Hypnic. 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 for this exam, um we have a suspicion for um you know, some sort of co ation of the aorta or left side obstruction with a different 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 venus 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 marking. 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 rights sided forces because the right heart is the systemic ventricle in the fetus. Um and look for those in the right proal lead. So V one, but in V one, 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 coition. 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 look 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 that there significant stenosis. So, um you know, as mentioned, this baby has cation of the aorta. Um this can have variable clinical presentation. So we've all heard about the babies who present in shock when the PD A 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 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 want to share, you know, a clinical pearl. Um that cot of the AORTA is one of the critical congenital heart diseases that is missed by the pulse out screen. And I'm gonna take the next couple 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 in the right hand which um comes off of the right Sula an artery. And in most cases is the most proximal artery to the uh to the, you know, to the heart on the aorta. So we're checking the saturation that we believe to be the most predal and then we're checking a saturation in the foot, which is always coming off um post doctorly. So at birth, the PD A is open, this is the PD A right here. The baby takes his first breath and pulmonary vascular resistance drops. So this makes the PD A 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 feel a pulse ox screen. So as you know, you could feel a pulse ox screen in three ways um in the pattern of differential cys where your right hand is has a higher saturation than your foot with reverse differential CYO, 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 se how um when you do your measurements separated in time and what the absolute numbers are to fail. But if you have co operation of the aorta and you are gonna fill 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 the 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 in the foot. You must have a PD a 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 the Darter Osis. 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 dioxin is in the main pulmonary artery and it can make a decision to go to the lungs or cross the PD A. If there is elevated pressure in the lungs with pulmonary hypertension, it can also cross the duct and cause you to feel the pulse ox screen and with the pattern of differential cino. So why is it that cooptation of the aorta can fail this pulse screen? Um The reason why is because there is a lot of variability in the anatomy and severity of cot. So, um in the very severe coar that where the arch is nearly interrupted while the PD A is, is open, the lower half of the body is gonna be supplied by the PD A. So these are your severe cases, this will result in a fail but your less severe coar what while the isthmus is um the isthmus, the the isthmus, which is this distal part of the aortic arch is gonna be adequate while the PD A is open. So you can see that the PD A kind of inserts um in uh close to where the normal um aortic isthmus is. And so in these cases, while the PD A is open, the isthmus is adequate, the PD A 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, such that when the PD A closes in a few days, that ductal tissue in the aortic arch also constricts and then this is what leads to the coition. So, um again, I can't stress. This is not just important to, to know that coert 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 IC U, the assessment of end organ function and lactase were all normal. So, you know, indicating that the baby was um was the cot was not um super severe PGE was not started because the PD A 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 three month old term baby who was fine at their one month visit and fine at their second month visit, but is coming back to the pediatrician at three months. Um, um, you know, earlier than the, the normal four 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 is taking half an hour. Um, the breathing is getting progressively labored. Um, the baby's tachycardic and tip on exam um with uh mild retractions and there is a low pitch hays murmur. There's also a pato megaly on exam. So we're seeing evidence of pulmonary Venus, um congestion with the tachypnea and the work of breathing. We're seeing evidence of systemic Venus congestion with the pale megaly. And we see low output with, um, you know, with the sweating and the um um the, the with the sweating with feeds. So an EKG was performed which was remarkable for deep Q waves and the lateral leads. So this downward deflection here in one V five and V six and there was also S TT wave abnormality. So T wave inversion here and lead two and ST elevation and B three. So this is overall pat for the finding of hell ka which is 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 Al Ka, this left coronary artery comes from the pulmonary artery and the coronary receives dein blood. So the main problem with this lesion isn't so much that the coronary is getting dexin blood, which um you know, really is 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 four 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, was described as being generally not really active, but there is no cino 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 two out of six medium pitch h systolic murmur at the left lower external border, but the abdominal exam was unusual and the liver edge was palpated three centimeters below the right costal margin. So here we have signs of systemic venus congestion. Possibly this history of wheeze and albuterol use might be a sign of pulmonary venous congestion. So, when the EKG was performed that was um very abnormal. So here we hear here, what I circled is the P wave and V one and the amplitude of the voltage is very big and it's also bidirectional. So this is a finding of bi atrial enlargement and then in the lateral leads, uh we see prominent voltages in V six 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 pathetic 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 diastole 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 five months prior to presentation, the child had, you know, quote unquote gastroenteritis with a lot of G IC. 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 is just showing, you know, activation of the renin angiotensin all doone 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 be time 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 IC U and actually needed um uh that implantation. So, um a ventricular cyst device and she needed a bivad. 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 sar come here. 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 a primary care physician yet. So it 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 to, for the past three 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, two 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 five 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 shows some infiltrate. So he was um diagnosed with pneumonia and started on Azithromycin and amoxicillin. He was returning now four days later because he didn't improve. Um, he had um significant wheezing on exam, he received some fluid boluses. 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 the troponin which was normal and then they checked A BNP again. B MP being a marker for heart failure and cardiac stretch and that was elevated at 616. Um So on physical exam, he's a febrile tachycardic. Um He was very tachypneic at this time, he was sitting straight up in bed in a 90 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 into knik with mild retractions, um and faint wheeze um on the abdominal exam, he had um Hepatomegaly with his liver edge palpated three 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 venus 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 Miller known and during this hospitalization was actually able to transition to oral medications and um and be discharged, there is 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, twenties and thirties of uh 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 was admitted again to the hospital. He ultimately underwent a left ventricular cyst device. So just um just uh just an cyst 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 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 V SDS. We can do things like diuretics. We can try to minimize pulmonary um over circulation by avoiding um avoiding supplemental oxygen, avoiding pulmonary vasal dilation. 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 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 clamp down, then we can give um a medication called morone that leads to pulmonary. Uh so it leads to systemic basal dilation and also helps a little bit with luso tropy. 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 Reso, 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 preloaded um reduction and then the beta blocker and the spiral lactone. These are to sort of prevent the adverse um maladaptive remodeling of the heart from chronic activation of the renin tenino doone 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 starting to be used in the pediatric world is again, this medication called reso. 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 Sacubitril, um which is a Nepro lysin inhibitor. Nepro lysin is um molecule that degrades B MP S. So it's just sort of interesting this interest. So inhibits the degradation of B MP S letting, letting the heart's natural B MP 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, co 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 asy uh asymptomatic at rest. You really want to 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 G I symptoms? And again, just to emphasize that persistent G I 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 the test 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 B MP you need to be cautious with because there's different normal values depending on your age group. So it can be a little bit difficult to diagnose. Um But at the end of the day, you know, um we at U CS F, the pediatric cardiologist, we 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 might have.
