[Music] hello welcome back to lecture number nine congenital heart disease in the series introduction to cardiology I'm Joseph Alford and I'm going to give you a brief review of congenital heart disease I'm an adult cardiologist so I only get to see these diseases when the pediatric specialists who really focus on this form of heart disease have either missed the diagnosis in childhood or the patient lived in an environment where they didn't get to see a pediatric cardiologist and consequently arrived at adult life with the disease or we see patients who had operative correction of congenital heart disease but continue to have some problems because of the disease I'm not going to do an exhaustive review of this there are huge text books written on this just this one area but I'm going to give you a quick feel for congenital heart disease particularly the ones that we see in adults again very briefly let's review the anatomy remember the left ventricle pumps out the aorta out the aortic valve into the aorta circulation passes around through the tissues of the body comes back through the large veins to the right atrium passes into the right ventricle out the pulmonary artery out into the pulmonary artery back to the left atrium back to the left ventricle so you can imagine there are all kinds of problems that can occur in this very complex structure there can be holes in the heart there can be obstructions to outflow for example the valves are misshapen well there's you can even have the ventricle switched so that the left ventricle is pumping to the pulmonary arteries and the right ventricles pumping to the aorta these are all problems that occur in embryonic life that is in the development of the fetus and often they are the result of either infections that occur during pregnancy or drugs that were taken during pregnancy or of course hereditary congenital heart disease is the result of an abnormal development of the heart in some fashion it occurs in embryonic life it may be the result of an embryonic infection for example with a virus or it may be of course a hereditary factor there are a number of different forms of congenital heart disease most of these are identified by the pediatric cardiologist and are cared for early in an individual's life some individuals are discovered for the first time as adults but nevertheless that's usually thought of as somehow a failing for the patient to get the diagnosis made early on and this can be the result of for example poor healthcare early in life the patients are cared for by pediatric cardiologists often in conjunction with adult cardiologists in special clinics that are geared exactly to the long term follow-up of these individuals most of whom have minimal disability following successful correction there is a group the group with cyanotic congenital heart disease however that continue to have problems so there are a number of different forms of congenital heart disease one is the obstructive form for example one of the valves is stuck and we're going to talk a little bit about that we already mentioned that in a or text enosis that the bicuspid aortic valve can become stuck so that the instead of having a three leaflet a or tick valve you only have a two leaflet valve that can become stenotic or stuck in midlife we'll talk more about that when we talk about valvular heart disease in one of the subsequent lectures there can be other obstructions for example the pulmonic valve can be miss shapen so there's stenosis in the pulmonic valve putting an extra workload on the right ventricle so those are obstructive lesions you can also have holes in the heart for example instead of the there being a clear wall between the two atria the right and left atrium you can have a hole there for example that's called an atrial septal defect septum is the is the wall between the two atria you can have a hole in the wall between the right ventricle and the left ventricle that's a ventricular septal defect so there are diseases in the width with holes in the heart lead to increase blood flow to one of the ventricles we'll talk more about that in a moment there are congenital heart disease lesions that occur that actually decreased pulmonary blood flow often these are a complication of one of the lesions with a hole in the heart that is the atrial septal defect or the ventricular septal defect leading to increased blood flow on the heart this stimulates increased resistance in the lung and eventually the blood flow reverses instead of going from right to left it goes from left to right patients are often cyanotic and blue that's a severe complication of congenital heart disease so called cyanotic congenital heart disease sometimes individuals are actually born with cyanotic congenital heart disease that requires urgent surgery in early childhood so here you see listed all of the lesions that can occur you'll notice that they're broken down into a cyanotic that is where the patient is pink and cyanotic that is where the patient is blue you can see on the left-hand side in the eight ace cyanotic group the atrial septal defect the hole in the atrial septum ventricular septal defect hole in the ventricular septum patent ductus arteriosus remember that's the connection between the pulmonary artery and the aorta that enables blood flow in during fetal life to go from the right to the left side because the lungs are not working and then you can have a special form in which there's a ventricular septal defect and an atrial septal defect known as the AV canal and then you see the obstructive lesion scar tation of the aorta that's a mark narrowing in the aorta aortic stenosis and pulmonic stenosis and when we look at the cyanotic lesions there's something called tetralogy of flow that's four different lesions usually a ventricular septal defect pulmonic stenosis and some rearrangement in the anatomy of the right ventricle and the aorta tricuspid atresia means that the tricuspid valve is missing that is usually associated with an ASD so that the blood shunts doesn't get into the right ventricle but shunts across the defect into the left ventricle left atrium and then into the left ventricle and then there are a variety of rarer forms in the final column transposition of the great arteries where as I said before the aorta comes off of the right ventricle and the pulmonary artery comes off the left ventricle and a number of lesser common things truncus arteriosus these are quite rare but they're worth just mentioning as complex congenital heart disease that's almost always corrected in childhood because otherwise they would be fatal in early childhood all right so let's start by talking about obstructive lesions these are legion lesions that impair the forward blood flow out of one of the ventricles there are three common ones pulmonic or pulmonary stenosis in which the pulmonary valve is abnormally formed and consequently the right ventricle is usually hypertrophied it has a much bigger workload and often the blood flow into the lungs is reduced if this is very severe it has to be dealt with in very early childhood often with a balloon catheter that dilates up the pulmonic valve later the valve may need to be replaced if it scars down a lot the same thing can happen to the aortic valve it can be born too small and again this leads to mark decrease in the blood flow into the whole body and again often requires a balloon catheter opening of the Artic valve in early life and again often down the road you need to replace that valve as it's cars down coarctation of the aorta is an obstruction that occurs in the aorta where the aorta is markedly narrowed in one place and again causes decreased blood flow to the lower extremities and to the abdominal organs and consequently one has to open that sometimes with a balloon catheter treatment sometimes with surgery we're going to talk about these in a little more detail let's talk about pulmonary stenosis as I mentioned before the right ventricle has to hypertrophy has to get bigger and thicker because it's facing a big increase in its afterload in its work this is a can lead of course eventually to right ventricular failure often the pressure is quite low in the lung and the blood flow is quite low in the lung and you may even see in early life or later life you may actually see right ventricular failure with edema with swelling of the abdomen and the legs again this lesion creates a very nice loud murmur so it's very frequently picked up in childhood and taken care of if it's mild it's just followed if it's severe a balloon catheter is put in and expanded and opens the pulmonic valve it makes a murmur like the one with aortic stenosis you here have turbulence during systole during the contraction of the right ventricle and you hear you over the the pulmonic valve a or text enosis similarly is a lesion that affects the left ventricle left ventricle also hypertrophy x' gets thicker because it has to push harder to get the blood out into the aorta can also be associated with decreased cardiac output decreased blood flow and even needs operation or a balloon opening of the valve in very early postnatal life that is soon after the baby is born if the aortic stenosis is very severe it has to be opened by a balloon catheter or the infant won't survive again it produces a systolic murmur each time the ventricle squeezes you hear you yeah yeah as the turbulent blood flow passes through the stenotic a or tech valve coarctation of the aorta is an interesting one because it's often missed the coarctation occurs just after the arch of the aorta and consequently leads to increased blood pressure just behind it so that there's increased blood pressure in the arteries of the arms and the arteries of the head and there's decreased blood pressure in the legs so there's and also of course a characteristic murmur so this may be missed by the doctors because we usually take the blood pressure on the arm so the blood pressure might be a little elevated but often you don't take the blood pressure and little kids and they can have fairly normal development I've even seen patients get into teenage years or even older when suddenly that the heart began to have trouble keeping up with this increased workload patients may have been a little short of breath they may have been a little fatigued or they may be without symptoms but it was picked up as I'm going to show you in a moment by a characteristic finding on the x-ray the treatment is either balloon opening of the narrowing or operation in which the stenotic or narrowed segment is removed and a graft is placed in there this lesion is often associated with a systolic murmur heard best over the spine why because the the aorta runs along the spine in as it after it follows the arch and consequently you may just hear a nondescript little systolic murmur in the front of the heart whereas when you listen in the back of the heart over the over the chest you may hear a louder murmur the clue is that you have nice bounding pulses in the arms and almost no pulse in the legs and you say how come I can feel a bounding pulse in the arms I can't feel it in the legs and then often a chest x-ray gives you the answer this is one of the correctable forms of high blood pressure most patients will high blood pressure don't have correctable forms but this is one of them and interestingly enough even after correction there's a tendency for the patient to develop high blood pressure that needs drugs to be taken care of as I said before it's due to a congenital narrowing in the aorta which sometimes slips past the pediatricians and we see these patients in adult life when they end up with hypertension now here is the finding that often is most embarrassing to the cardiologist maybe you've seen a patient because they had a little hypertension and you've been asked they're going to have a hernia repair or some minor surgery and you've been asked to clear them yes their hearts okay they'll withstand the operation and then in the preoperative chest x-ray the radiologist Falls up with a great big laugh and says hey did you guys know your patient has coarctation of the aorta how does the radiologist know that because when there's coarctation of the aorta there's large number of collateral or reserve blood vessels that open up some of these are underneath each rib and what they do is cause you can see this little notching this little cavity on the underside of the rib that's a characteristic of the collateral blood vessels it's picked up on the chest x-ray and if you have you thought the patient had coarctation it's rather embarrassing that the radiologist gets to make the diagnosis if you thought colocation might be there and you order the chest x-ray that's okay but there's a significant number of these folks usually without severe coarctation who slipped through into adult life if the core occasion is very severe it's almost always picked up in the pediatric a period of time so now we're going to deal with lesions where there's a hole in the heart these lesions are usually associated with so-called left-to-right shunting of blood that is blood which is oxygenated from the left side of the heart ends up on the right side how does that happen let's take atrial septal defect that I'm gonna speak about in much greater length as an example so think about this we're talking about diastole that is the heart is filling the mitral valve is open the tricuspid valve is open blood is flowing allegedly into each ventricle oh but there's a hole in the septum well it turns out because the left ventricle is a little thicker than the right ventricle it's a little harder to fill the left ventricle than the right ventricle so in diastole when all the valves are open some of the red blood from the left atrium shunts across the defect in the atrial septum and into the right ventricle one of the ways we diagnose it is we find there's too much oxygenated blood in the right in a sample taken from the right ventricle and often as much as a couple of liters a minute mechant across the left atrial from the left atrial area into the right area through the defect and lead to marked increase in the amount of blood that the right ventricle has to pump in a ventricular septal defect the same thing happens left ventricular pressure is much higher than right ventricular pressure when the left ventricle squeezes and the right ventricle squeezed together the pressure is higher in the left ventricle so red blood shunts over into the right ventricle with a patent ductus arteriosus that's the connection between aorta and pulmonary artery from embryonic life it doesn't suppose to close down but it doesn't close down a or tech pressure is higher than pulmonary artery pressure so throughout systole and diastole there's red blood shunting into the pulmonary artery you can see in each of these conditions extra red blood is arriving in the pulmonary circuit in ASD and VSD it's arriving in the ventricle the atria and the ventricle and in PDA it's arriving at the level of the aorta or the pulmonary artery and what this means is there's increased pulmonary blood flow and if this goes on for a period of time you can have increased pulmonary resistance severe pulmonary hypertension and the shunt can actually reverse and go right to left with blue blood ending up in the arterial circulation patients have blue lips they're markedly disabled often because of they're not getting normal oxygenation of the red blood in their arterial circulation so let's talk for a few minutes about atrial septal defect it's the commonest lesion that slips through pediatric years and into adult life it usually requires closure these days closure is sometimes done in the catheterization laboratory with a special kind of catheter that puts a little a little umbrella on the defect and closes it although occasionally if it's large it requires surgery in many instances it's already been corrected in childhood and there are some few minor problems that can occur later on in life some arrhythmias and so forth but most of these patients do perfectly well and lead normal life expectancies if the defect has been closed if the defect isn't closed as I mentioned before the increased pulmonary blood flow can lead to pulmonary hypertension and eventually right ventricular failure cyanosis all kinds of things that markedly disable the patient the hole is in the atrial septum in an embryonic life often there's a hole there because you want to shunt blood from right oxygenated blood from the placenta from right to left but it's suppose that hole is supposed to close in very early of life after the baby is born now you you can see here from this diagram what happens to the heart you get an enlarged right ventricle because there's left-to-right shunting remember we talked about that the reason because the right ventricle is a little more flexible compared to the left ventricle so some of the red blood to the left atrium ends up in the right ventricle and the result is that there's very much higher oxygenation in the right ventricle and the pulmonary artery then normally would be there because normally remember the blood coming back to the right ventricle and to the right atrium is the blood that's had its oxygen removed by in the capillary phase and passed in the veins up to the up to the right atrium and right ventricle one of the findings if the patient goes on to severe pulmonary hypertension and in other words the lesion is not fixed one of the lesions that occurs of course that makes the diagnosis very easy is what you see here in this picture this is known as clubbing it's abnormal rounding of the fingernails this is a very advanced example and by the way if you look the fingernails are not the normal color they're not the normal pink color they're a darker color and that's because you have blue blood in the arterial circulation the pulmonary hypertension has become so severe that now instead of the red blood shunting across into the right atrium and down into the right ventricle in fact blue blood is shunting across the septum into the left atrium and the left ventricle and being pumped out in the a this is a commonly known as eisenmenger's syndrome it's because of severe increase in pulmonary vascular resistance from long-standing uncorrect Addante it occurs more commonly with ventricular septal defect when higher pressures are seen in the right ventricle then occur in atrial septal defect nevertheless this is a very dreaded complication of congenital heart disease and just here again so you see a little here's a little diagram of the heart just to tell you what the findings are in a patient with atrial septal defect why it's so subtle there's often a small systolic murmur from the pulmonic valve but nowhere near as remarkable as with pulmonic stenosis you may actually by putting your hand on the chest feel the right ventricle which you normally wouldn't feel in somebody and the second heart sound is wide and and stays wide now remember with respiration we talked about this early on when we talked about the normal cardiac exam the second heart sound splitting moves with respiration it gets wider during inspiration and narrower during expiration let me show you an example it's bump but um bump them that's an inspiration and an expiration it's but um pump it up pump it up so it gets narrower what happens in atrial septal defect cause the right ventricle is overfilled that movement of the splitting of the second heart sound doesn't occur so you hear lump but um look but um but um you never hear that sound narrowing and then there's findings on the electrocardiogram and of course on the echo that confirm your diagnosis but those findings are pretty subtle and particularly in a little child where the hearts going put a butter butter butter butter butter it's very easy to miss that fixed so-called fixed splitting so here we see a little diagram again of one of the lesions that can increase the pulmonary blood flow for example ASD and you can see it accounts for 78% of congenital heart disease which is the largest fraction it's quite calm as discovered lesion in adults whereas usually the VSD because it creates a loud systolic murmur is usually picked up in childhood interestingly enough VSD can spontaneously close during childhood because of some hypertrophy of the septum so often pediatricians will follow smaller vsts they don't have to be closed larger VSDs of course create a large pulmonary blood flow and do require closure it turns out that ASD is a little more common in males than in females and as you see about seven to ten percent of congenital heart disease is an atrial septal defect there are several forms of atrial septal defect depending upon where in the septum the hole occurs the common one is called an ostium secundum it's the one that's right over the foramen ovale that's the little opening in atrial life that never closes or doesn't close completely and or can be actually a failure of the atrial septum to develop normally it's right in the center of the atrial septum and I'm going to show you a picture of it and here's an operative picture you can see the surgeon's instruments to the left and you can see we're looking at the atrial septum and it's quite clear that you're looking at a hole and what you're seeing in the on the other side is the left atrium so you can see here's a defect this is right in the area where the foramen ovale would have been it's also much larger so this was a failure of the atrial septum to develop normally and here's the operative picture usually a little piece of pericardium that is the lining around the heart is taken or you can use a Dacron or a Teflon patch and the defect is closed so this is a successful closure of an atrial septal defect this actually looks the heart looks reasonably large although this a magnified picture but I'll bet this was not in a tiny infant this was probably in an adolescent or possibly an adult we're going to spend a little less time on the other lesions but ventricular septal defect is the communist lesion in in childhood but becomes much less common dolt life for a couple of reasons first of all as I mentioned before the ventricular septum often enlarges and closes the defect spontaneously and secondly because the murmur is loud and easily heard in childhood often it's repaired either with a catheter patch that's put in or with surgery and so the ventricular septal defect ends up in adult life to be much less common than it is in childhood number two in childhood is ASD which becomes the most common in adult life because it's it can be missed because the findings are subtle again you have increased pulmonary blood flow because during systole the left ventricle is pushing red blood into the right ventricle that goes out in the pulmonary circulation again the most dreaded complication is marked increased in pulmonary vascular resistance the eisenmenger's syndrome in which the patient is cyanotic they're blue they have decreased cardiac output they are markley disabled rarely they will survive to late middle life usually complications occur that cause death sometime 40s or 50s the patent ductus arteriosus is the third increased blood flow pulmonary blood flow lesion again the ductus arteriosus is used in embryonic life it's supposed to close at the time of birth if it fails to close and stays open then again a or tech pressure being higher than pulmonary artery pressure results in a left-to-right shunt that is red blood into the pulmonary artery markedly increasing pulmonary blood flow and also by the way increasing pulmonary pressure because a or tech pressure is being transmitted to the pulmonary artery these individuals more rapidly developed eisenmenger's syndrome that is severe pulmonary vascular disease severe constriction in the pulmonary vasculature that leads to pulmonary hypertension right ventricular failure blue blood shunting across the PDA into the aorta and again the eisenmenger's syndrome marked disability and early mortality this murmur murmur associated with a PDA is one of the most interesting ones in cardiology why because a or dick pressure is always higher than pulmonary pressure it's higher during systole and it's higher during diastole so that means you have shunt flow both during systole and diastole and turbulent flow in the pulmonary artery so when you listen along the left upper border of the sternum here what do you hear you hear a continuous murmur that's a little louder in systole it's a murmur that's very very distinctive when you hear it you know immediately what you're dealing with you're dealing with a continuous flow both in systole and diastole continuous flow of blood flow red blood from the aorta into the pulmonary artery this is closed by the way with an operation where you don't need the heart-lung machine why because you're not getting inside the heart you're just tying off and dividing and separating the two halves of the patent ductus arteriosus it was the first congenital heart lesion corrected by surgery because of course it was corrected before the heart-lung machine was available and again as I mentioned the hemodynamics of it are both increased flow and increased pressure in the pulmonary circuit that can lead to severe pulmonary vascular disease but fortunately the characteristic murmur means it's usually picked up in childhood and corrected with a fairly simple a cardiac cardiovascular operation that does not require the heart-lung machine and again I mentioned the findings you're going to hear a continuous murmur you may the patient may have bounding peripheral pulses because there's a runoff from the aorta into the pulmonary artery in a sense there's a decrease in resistance to in the aorta and consequently this can lead to a very marked brisk pulse there's a widened pulse pressure because of that when you take the blood pressure so there's a number of findings and again it's almost always picked up in childhood because of these findings and it is corrected in childhood treatment of Peyton doctor's arteriosus consists of interrupting the ductus this can be done with a catheter with a little plug over a wire or it can require operative treatment particularly if it's big and it looks like it's going to be more complicated it can be closed with a surgical procedure where one opens the chest and ties it off and and interrupts it cutting it after it's been tied off on both sides these days most of these are closed in the catheterization laboratory but a small number are a little more complex and require surgical intervention the final form of congenital heart disease the cyanotic form the ones with a ventricle switched and the aorta or pulmonary artery switched and so forth are very complex they are seen immediately in childhood because the baby is blue the baby is cyanotic they always require urgent surgical intervention and usually what we see in adult life is not a cyanotic patient but what we see is somebody who's already had one or multiple surgical procedures they're very complex we actually don't even know yet what the full natural history of these lesions are going to be because they've only been operated on for 30 or 40 years and so the full life expectancy of what happens after repair of so-called transposition of the great arteries or the pulmonary artery in the air or are switched on the two ventricles is not fully known and also a number of different operations have been done so we don't know exactly what's the long-term outcome with operation a versus B again these individuals are always followed by pediatric cardiologists usually alongside an adult cardiologist who specializes in congenital heart disease in the adult so these folks often fall into the category of partially repaired or palliated congenital heart disease because you can't completely change around the anatomy which is so abnormal that's different from the ASDs the VSDs pulmonic stenosis in aortic stenosis all of those previous ones the patients can get to near normal life or normal life expectancy and normal activity these lesions the ones with with cyanotic forms are much more complicated and often the operations don't completely change the environment the patient's live on with significant disability well in conclusion I've given you a very quick look at congenital heart disease as I said in the beginning this is a very complex area that's actually the purview of a group of cardiologists the pediatric cardiologist who again often in conjunction with adult cardiologists continue to follow these patients for their whole life particularly where there are residual defects as I just mentioned in the patient with cyanotic congenital heart disease there's excellent catheter and surgical treatment for these patients they all have very specific findings on physical exam and EKGs and echoes I didn't go into this in great detail because it's a whole area of itself but suffice it to say that with careful thought and examination the adult cardiologists can usually identify these lesions based on the patient's history and the physical findings and of course this is followed up with a number of imaging tests echo CT or MRI give a beautiful map of the lesion often which the surgeons want ahead of time to look at before they go in and the results of surgical intervention our catheter intervention are very very good for the vast majority of patients with the exception of the individuals with cyanotic congenital heart disease who often continue to have disability and problems but the good news is that most individuals with congenital heart disease actually lead long and productive lives with minimal disability why because they've had the defect closed often in childhood there's not pulmonary vascular disease they don't turn blue they function very well some even are competitive athletes the residual problems are often in the patient with the complex lesions that lead to cyanosis at birth as we talked about the transpositions where they aorta and pulmonary artery are reversed these individuals have an number of palliative operations and they often have residual disability fortunately they're a very small group the majority of patients with congenital heart disease either have the obstructive lesions pulmonic stenosis and the or text enosis or the holes in the heart the ASD the VSD usually these do extremely well with our current therapy and often they don't need cardiac surgery often the defects can be closed with catheter devices so it's a very good time for congenital heart disease with the exception of the people who had cyanotic and jail heart disease they often require considerable follow-up and care and as I mentioned before it's usually coordinated care between the pediatric cardiologist and the adult cardiologist [Music]