Pediatric cardiologist and electrophysiologist Akash Patel, MD, breaks down the underlying conditions that can cause sudden cardiac arrest leading to death in children and young adults. Though most patients have normal physical exams, he illuminates how providers can ask the right questions and run the right screening tests to find at-risk patients in time to initiate preventive care.
So, uh, hopefully over the next 45 minutes, the objectives of today's talk or to review the epidemiology and ideologies of sudden cardiac arrest and death due to cardiac conditions, sort of highlight the differential diagnosis of these two scenarios. With the focus on more common cardiac causes that you may encounter in your office, really identify signs and symptoms of the at risk population, which would trigger an evaluation and tend to referral. Um, briefly discuss sort of methods that are available for you as a primary provider and us as a sub specialist to provide ways to prevent and treat this condition. So, as you know, sudden cardiac arrest is a condition where the heart stops suddenly and unexpectedly stops beating. And here's a footage of a a few years ago, a soccer player here. So I'm going to just play this video and you'll see where my hand is is gentlemen walking on the soccer field and collapses this patient, fortunately had an icD. So as they zoom in, you'll notice that there will be a twitch of this patient's body and as I said, he shocked him and he will be hopefully in a second sitting up and successfully with resuscitated. So clearly this is the best case scenario for an athlete to had a cardiac arrest and was hesitated, but oftentimes this is the first presentation and thus the wouldn't have been implanted attention. The patient would have been allowed to play sports. Um, and so how do we get to this scenario of saving someone's life and preventing the second scenario, which is sudden cardiac death? Really, that's, you know, unexplained death due to cardiac causes that occur over a short period of time. So generally the terminology is used if death occurs within an hour of symptoms, um, uh whether the person has known or unknown cardiac disease. Um, and interestingly, the first case of sudden cardiac death during uh was reported uh, back in 1490 BC. So flippant ease of your Greek historian ran the first marathon. And on the completion of that marathon, the drop dead suddenly at the end. Clearly back then, we don't know what the ideology was, but is a classic example of what we as care providers worry about. Most someone who's participating in sports and has an event and unfortunately isn't able to be resuscitated or rescued from that. Mhm. Mhm. And a lot of our concern really comes uh at multiple levels. This is something that um, is in the news right in the community. Um It's talked about at school teachers and friends and colleagues. Um and these are just newspaper clippings of uh events just in the bay Area in California alone, young young woman who passes away during a soccer match. She's about six or seven years ago, basket football player on the field who collapses basketball player again. Um, and in this scenario there was several people over the course of a month that had passed away. Um, and I'll talk about this gentleman over here who was a famous basketball player who, who had an event which unfortunately led to his demise. And a lot of this creates a lot of trauma, whether that's clearly for the patient, for the patient's family, but a lot of it is for the community and for the providers, right. These are otherwise healthy Children who really don't seem as if something is wrong. But clearly something tragic can occur in our job is to figure out ways to better identify these patients to avoid and prevent, prevent these situations are possible. So how often does this happen? Well, it's really hard to know if you can think about it, right. These things are pretty rare. Much of how we identify cases is really parental advocacy groups that are out there now. Clearly the media, the press, social media, Um insurance, death certificate data. Um um, but even of all the published data that's been out there even as recent as 2021, only about half of cases have a known cause. So we still are clearly missing things and a lot of that is dependent on how thorough that evaluation is at the time of death. Some people define autopsy. The ways in autopsies are done may be deferred or varied because there is no standard in the United States about how to to uh thoroughly evaluate a sudden cardiac arrest at any age, let alone Children. Um, and thus we were left with the big unknown which can cause some problems as you'd expect because that patient may have a sibling or a parent. Um and those family members may come to you or to us as cardiologists say was the same thing going to happen to my brother or sister or a daughter or son. Um but hopefully we'll have some better data. The NIH CDC several years ago started a sudden death in the young registry. And the UCSF was fortunate enough to be one of the active sites in this. Uh and hopefully we'll get a better understanding of this rare and uncommon event. But to put it in perspective, this is just looking at mortality rates among Children from 1 to 14. Clearly we deal with kids that are older and uh adolescence and in college age, but this holds true across that spectrum. Um and you can see here heart diseases Pretty uncommon for causes of sudden death about 0.5-1,000,000. If you look at the published data, that range is a little bit wider. But when you compare it to other things that we see or feel more commonly cancer. 200,000. Unfortunately, homicide two, other congenital anomalies. Really unintentional injuries, trauma events. Um, you know, we're talking about 8-9 per 1000. So again, relative to what we are when we have patients, you guys suddenly becomes even a much more uncommon cause clearly the patients that we worry about most aren't the kid who is a musician or an artist, but one who is really an athlete, right? That's when, when we look at sudden death, the majority of the cases occurred during or at the time of exercise, as I pointed out, and I use that video that I showed you the beginning is a good illustration that soccer player wasn't actually running. He was on the pitch. He had been playing a game of soccer, but at the moment in which he had at his event, he was walking on the, on the course on the field. And so, so when we talk about sudden death with sports or his activities, some of the nuances of during, what portion of activity can be helpful as we figure out why it happened. Um, but we think about sudden death. We look at all ages. It's about one in 17, per year again, sorry, 17,000 per year again, that's adults. So we have 30, 40, 50 year olds. Most of those are going to pass away because of coronary issues. As I highlighted when we think about high school athletes, uh that percentage is low upwards of 2,500,000, with the vast majority, 80% occurring dirt or immediately after exertion. There is a male predominance. So men tend to be five times more likely than females. That shift is is not as great now, but still there is a significant male predominance and then the degree in which you are a competitive plays a role. So we've seen that the events happen more often in college athletes compared to high school athletes, compared to high school non athletes. Um, so you can see these events happen in people playing recreational activities as well. Um, and some of this may be just self selection and some of this may be the extent of exertion that's going on. And then the other aspect to think about his age, some of the diseases that can cause sudden death really don't become a problem until there Young adults and so they may have the same disease as a two or 3 year old. But the real risk doesn't occur until they're older. We think about how many kids out there are at risk. Well, there's about eight million Children currently playing high school sports. Half a million college sports in about 5000 professional athletes. So clearly quite a few people playing sports. And that doesn't include all the kids you just want to play in the backyard or at the neighborhood park or during school. In pE we actually look at sports interestingly enough, there isn't a safe sport, but there are certain sports that are at more risk. So the three most common uh sports that lead to sudden death or when sudden death occurs. Basketball, football and soccer. Um When we think about the least likeliest figure skating, which doesn't happen a whole lot here in California because of the weather, but surfing can happen. Uh, and so you run the gamut like marathon runners, track and field, wrestling, volleyball, tennis, uh, you know, cycling, gymnastics, golf, martial arts. Um, you know, and so there is no sport that is a quote unquote safe sport. But clearly certain sports lead the more either dynamic or isometric activity, like of someone who's playing and you know, bowling is very different than someone who is a football player training five years old. So we take those numbers and say, well there's 88 million kids playing sports. Uh, and we use the incidence rate that we have of about 2.5 to 2 per 100,000. There's anywhere between 460 kids who will pass away each year from sudden death. Right? So again, these are rare events, but when they happen clearly seem like they are much more prevalent and clearly are impactful as I highlighted. Most of these deaths occur during football and basketball in the US. But think about different countries supporting is different. So in Italy soccer is the most common cause of sudden cardiac arrest. Uh, sorry, is the sport with most common party arrest, as I've highlighted, sudden death is highly publicized in the news. Um, and so word spreads fast and uh, and that can lead to anxiety or concern, which is appropriate. Um, and really, unfortunately, there's a lot of controversy about how we properly screen athletes. You know, when we think about screening tests, you know, it has to be cost effective and it has to show that the test reduces the risk. So we have events that are this rare. A lot of the screening, uh, metrics that we used to say that it's a good screening tool really don't fit. But there are a lot of grassroots organizations that do community based screening, whether that's with echo or big. Um and in other countries that have universal health care, they have shown that there is some efficacy to certain models of screening when cost containment is used and when you actually have appropriate people evaluating testing. But currently the United States, the feasibility of sort of universal athletic screening is unlikely. The likelihood that it's going to have a significant impact is low, but community screening clearly has shown a community level to be important. So what are the causes? So for the next portion of this talk will really highlights um sort of the ideologies for sudden cardiac death and arrest. Um uh and I'll highlight sort of in sort of three big buckets structural and functional heart disease. So these incorporate abnormalities with the heart muscle. So we call these cardio myopathy, these um there can be congenital anomalies that can cause the coronary arteries to come off at different spots, leading to the same issue of impaired coronary blood flow. Um and leading to myocardial infarction. They can be connective tissue disorders that can lead to aortic aneurysms and rupture. We think about you know viral infections that can affect the heart, So myocarditis. Um in terms of electrical issues we think about inherited channel open. These are sort of, these are inherited disorders where the heart has difficulties with controlling electrical signaling, which causes it to go into life threatening arrhythmias. Um classic examples on QT syndrome um and Wolf Parkinson White, which is a different condition that can cause rapid or fast heartbeats. Um and then highlight something that happens uniquely to sports is something called promotion of Courtis, which is blunt trauma to the chest that results in um sudden party of the rest. So we think about the ideologies. Barry Mirren did a groundbreaking study where in Minnesota they had looked at over the course of 26 years, over 1800 deaths uh with autopsies. Um and they really had good data to break down sort of the common causes of sudden cardiac death or arrest. So again there is a big portion about 40% that is structurally normal meaning. On autopsy. The heart looks normal and they have no diagnosis. Um um There's a significant portion about a third that will have hypertrophic cardiomyopathy. And then we get into less common things. Coronary anomalies channel open these uh connective tissue disorders. Put them up with these uh W. P. W. So well highlights um these as we go through the remainder of the top. So what is hypertrophic cardiomyopathy? Hypertrophic cardiomyopathy is illustrated in this picture here on an autopsy specimen is really abnormal thickening of the maya kardian. As you can see here this is the left ventricle very very thick. And so the space where the blood can fill the left ventricular cavity is limited and that can lead to difficulties with blood leaving the heart. Um Because the heart muscle is so thick that muscles actually abnormally developed and that this array of the muscle can lead to ventricular arrhythmias. So It is the most common cause of known cardiovascular sudden death, United States. Um it's pretty common considering genetic syndromes. So one in 500 will have hypertrophic cardiomyopathy. About half are identifiable with the genetic mutation. Um There is variable penetrates, meaning that you can carry a gene for hypertrophic democracy but actually do not manifest the thickness of the heart changing. Um And so that is something to to this day and age of genetic testing to recognize is that we may have gene positive or genotype positive and clinical manifestation negative or genotype negative patients. Um that can sometimes make diagnosing these patients challenging but also managing them. We think about sudden death and hypertrophic cardiomyopathy. Unfortunately it's the young people that are at most risk Children and young adults compared to older adults. We look at all ages. The annual incidence of sudden death is about 1%. But this risk increase is based on a variety of factors that can include um degree of wall thickness, evidence of arrhythmias, age as I mentioned. Um And so all of those have shown that the incident is much higher in Children. Um and unfortunately many of the patients who have hypertrophic cardiomyopathy and Children are asymptomatic or at least don't report their symptoms to their care providers. The manifestations can be uh pretty wide as they mentioned. Asymptomatic as you get older, uh and rarely in Children can get heart failure. So you can think about it is that the heart muscle is thick, doesn't pump the blood as well. And so you can have symptoms related to heart failure, difficulty breathing, traditional intolerance. Um and sometimes the symptoms don't always equates arrhythmias, meaning that people may pass out just because there's difficulty for blood to leave the heart versus they may pass out because there bottom chamber of ventricles being very rapidly and lead to an event. Um As I mentioned, the degree of hypertrophy also can be clinically variable, and that does not correlate to symptoms, but does correlate to the degree Of risk for sudden death, meaning that thicker your wall is the higher the risk of sudden death and generally worry about things that are more than three cm and an adolescent. Um, and when we look at pediatric data, you know, over this is a recent study and over the five year cumulative list for sudden cardiac death was 9%. So if you take all ages it was 1%. But when you just look at Children that risk is substantially higher. What are the symptoms that they may present with? So when you're seeing them from routine visits, as I mentioned, unfortunate. Oftentimes none. But you know, if they have chest pain specifically, it's observational chest pain, unexplained sympathy that seems a typical palpitations or irregular heartbeats On exam. Finding an important thing is depending on how thick the heart is. If it is causing obstruction of blood out the left ventricle to the Aorta, you'll get a heart murmur generally somewhere between a great 2-4 out of six murmur at the left sternal border. Usually a crescendo. De crescendo murmur is illustrated here in this diagram. The most important thing whenever possible. Taking a an athlete or patient, especially for pre participation screening is to do Oscar rotation, not just with them sitting or lying down, but actually do some maneuvers. And that can help tease out patient. So in the setting of hypertrophic cardiomyopathy with some degree of obstruction. When you hear a murmur then you can have them squat and when they squat uh they're murmur will diminish in amplitude or uh ought ability. So their grade would build from maybe a four down to one. And when they stood up, the murmur would increase immediately. And so if you can elicit that change, that would take your concern from a benign murmur, which we often think of as a two out of six murmur um to a concerning murmur just doing this diagnostic maneuver. And I think really the important thing is illustrated it is you know is this is an inherited condition that's being the AutoZone most dominant. You know about 50% of the genes that causes that are really good family history is really key. Whether that diagnosing heart failure, that's early onset arrhythmias. The diagnosis of hypertrophic cardiomyopathy. With you. Nowadays we're able to genetically test for this and then you just blood testing or saliva testing to screen other family members whose ultrasounds of the heart may be normal but show the genetic mutation that they can be surveillance throughout their life before symptoms may develop and before disease progression becomes obvious. If you're concerned, many pediatricians have the ability to get access to an E. K. G. And so this is a classic BCG. If someone with hypertrophic cardiomyopathy, two things that I'll highlight on this E. K. G. That will give you a clue. So the blue arrows here are pointing to the QRS complex. So here and lead the one you have a deep S. Wave and in V. Six you have a very tall are way. So that's telling you that the left heart of the left ventricle is thick or enlarged. So we call this left ventricular hypertrophy. We often can see that in normal kids, skinny athletes african american Children compared to caucasians have also shown to have higher voltages because their standards are based on caucasians. Um So that alone doesn't clue you in what can make you concern. But the other unique financing here is if you look at where all the red arrows are. So when you're in fear leads to three and A. B. F. And the five you see your T waves are inverted, right? And you generally should not see T. Wave inversion ever in your lateral leads, B. Five and B. Six. Um Especially not in the context of hypertrophy in the in fear leads. And so this would be a classic big for hypertrophic cardiomyopathy. If you were to obtain it during your evaluation. The next condition I'll talk about is myocarditis and no that's been comin over the last year with Covid in terms of both the vaccine and as well as uh concerns around the vaccine potentially more recently and then during the Covid infection or concerns for M. I. S. C. And my cardio involvement. But classically the most common causes that we see in Children. Are you going through and stuff? Um um And this is really inflammation of the maya cardi. Um that causes dysfunction. So here's an MRI and you can see here where the arrows are, you can see that there's abnormality. So black and white discrepancy. So um and that really is our gold standard now is clinical exam and MRI before we used to biopsy and histology to confirm that diagnosis. But infections are the most common things less commonly. Do we get drugs or environmental toxins, substance abuse that can give you myocarditis um information. These patients are rare again. Um uh this is just the incidence of my colitis, not the risk of sudden death in my colitis, but it's about 1 to 2 per 100,000 Children. Um uh diagnosis can be clinically challenging, right? So we see many people that have asymptomatic viral infections. So it could be subclinical disease or it could be for me and my colitis where they're coming in cardiogenic shock, sudden death is rare. But with the unique thing with myocarditis is clearly there is a rest the active infection with the heart not pumping well to cause arrhythmias or heart failure that are difficult or refractory to manage that can lead to demise. But interestingly, as the hardest healing or is healed, there can be residual damage to the heart that can be, that can lead fibrosis or scar, that can be an itis for ventricular arrhythmias. Um and so with this knowledge that is very common practice, said Children who have myocarditis or suspected myocarditis, even if they've recovered fully, even if it's a minor case, a really restrict, it's from that exercise as an activity from anywhere from 3 to 6 months after. And as I said, you know, one of the unique things is that similar to viral infections, giving you only certain organ system manifestation. The same thing can happen within the heart. Not all the heart is attacked. Certain parts of the heart can be attacked. So you can have normal appearance of the hearts on autopsy but there can be patchy infiltration or information as a result of the viral infection. Terms of clinical course. Often these patients, if they truly have myocarditis will have some degree of a viral program. Um fever, your eye symptoms, G. I. Symptoms. Now the G. I. Symptoms can be uh could be also a sign of heart failure um uh um That heart failure can be presenting as fatigue activity, intolerance, difficulty breathing with apnea. And older patients dysosmia. Um and then in those who are really six cardiogenic shock. Uh There are certain circumstances where arrhythmias can be at the onset of presentation, be disproportionate to the degree of dysfunction. So we have patients who have developed heart block or ventricular tachycardia with preserved heart function in the setting of mild for like this. Um And as they mentioned again sudden death is rare. Um symptoms again are going to be anything related to viral pro drome and cardiac symptoms. In addition so chest pain, sympathy palpitations, inappropriate protect party on exam, you're going to look for signs of heart failure such as a gallup. Had a medley, essentially a murmur a rob. If there's a perry myocarditis picture tachycardia. Um Any signs of poor profusion and clearly viral symptoms. And then here again if you are suspicious, kid comes in they have a gallop or is hyper dynamic. You want to get an E. K. G. Through positive. This is a classic finding for my party ctg we'll see S. T. Second S. T. Segment elevation. So if you look at where the red arrows are profusely, you'll see in all the leads that there is significant elevation of the S. T. Segment From the baseline here and be six. If you look at all the way to the S. T. segment starts. Um And gathers classic story. He's a young uh basketball player played at Loyola marymount in southern California. Um And was had a single officer during the game, had monitoring that showed exercise and used uh trickle arrhythmias. You started on therapy um and permitted to go back to sports because at that time he was a national leader in scoring and rebounding in the LA they made sure that he was safe. They had a trainer available, they had a defibrillator. Um But he decided to not take his meds one day because it did make him feel well. Beta blockers, that's common complaint that we have in young adults, especially males. Um and so they lowered the dose. Um and on March four, Well during the conquest West Coast Conference, uh double a basketball tournament collapsed on the floor. Uh Had cpr externally differently. She failed, unfortunately, died on the basketball court. He ultimately had an autopsy um Unfortunately, didn't show any propranolol in system um and didn't show signs of hypertrophic commodity, which you suspect is the highest likelihood of disease based on just incidents, but showed that he had a degree of myocarditis. Another cardio myopathy that we talk about is the homogenic right ventricular dysplasia cardiomyopathy. This is a fiber Freddie infiltration of the heart is depicted here on this MRI, which on the right ventricle here, it's all gray and on the left ventricle here, sorry, on the right ventricle here, it's all white. And on the left ventricle here it's all grey or blackish. So this is just fibrosis and fat tissue that is infiltrating the muscle. Usually it's the right ventricle more than the left. Um This can lead the ventricular arrhythmias. Again, this has a high degree of autism, a dominant inheritance pattern the variable penetrates um and there can be incomplete expression. Um And one of the unique things about this diagnosis is that this is a disease that affects the proteins that hold the the particular maya sites together. So think of it as glue and that glue is not as sticky to hold those maya sites together. So strenuous exercise basically causes those heart cells to sort of tear apart from each other and allows fibrosis in fact, to infiltrate, which really leads to disease progression. So this is one of the scenarios for exercise can actually potentially um delay progression or stop progression of disease. Um and as a discussion point that we have with our young patients who carry this gene, how to incorporate sports and activities safely while maintaining uh uh decreased likelihood that they will go on to manifest depression of the disease. This also has with other cardiomyopathy is a wide spectrum of manifestations from subclinical, which is the most common now that people are genetically tested. Most of the patients, I see what this conditioner that their parents have it in their child is gene positive, but type negative, meaning echo normally, kg normal monitoring. Normal heart failure is uncommon, but usually the teenager is the thing that we see the most as arrhythmias, so they'll uh the ventricular arrhythmias were more common presentation. Um And again, sudden cardiac death is rare, but if it does occur, it occurs because of particular indians. When we think about symptoms during a visit again, chest pain syncope palpitations, signs of heart failure. Oftentimes as I mentioned because there's no heart dysfunction, the exam is completely normal. But again, keying in on family history, family history, family history. Again this is likely to come from the mother of the father. Um uh so because of the AutoZone dominant inheritance pattern, getting a good history of parents is pretty cool. This is an E. C. G. That's also classic for A R. V. C. So, to to findings here to illustrate T wave inversions again here, you can see B. Five and B. Six and the inferior leads to three. Maybe if our a typical the reason this is different from the previous CCG about hypertrophic cardiomyopathy is the voltages are B. Six is not very tall. Be one doesn't have a big S. Wave. So this would leave you away from hypertrophic cardiomyopathy and potentially towards the RBC. And then there's another unique finding is there's a small little bump here on the one we call this an epsilon wave. Um And that is sort of passing pneumonic for Rbc. And this is arrhythmia that we worry about. This was a 60 year old patient of mine who played football and it was actually the kicker on the team. Um and this is came in with palpitations and clear. You can see this is a wide complex type of party at consistent contributor. Yeah, next is a coronary anomalies. So these are really anomalous origins of the coronary artery off of the aorta. Here is an MRI picture that shows the aorta on foss. This is the right coronary artery here with the white arrow, and this is the left coronary artery here with the black arrow. And clearly it's coming off the wrong spot. This arrow here in the aorta should be the spot that it normally would come off of. Um and so why is that a problem? Um so first it's a rare rare finding. And even in normal healthy adults that live to old age, we can see these variations. So just because you have a coronary anomaly doesn't mean you have sudden death. Upwards of about .3% of the population has some degree, you know an autopsy or imaging um degree of a coronary anomaly. There are two main ones that we worry about anomalous right coronary artery rising from the left sinus of bell salva. So if you look here this is the or to there's a left coronary cusp. Right corner of custom and see this is the right coronary artery, corner artery coming from the left cost. So they're coming from the same cusp of the tribute to bell. Or we worry about anomalous left coronary artery coming from the right sinus and again the left corner arteries supplying the left ventricle, which is more important than. And so here you can see this course in between the aorta and pulmonary art. So um this is 20 times more likely to cause sudden death while the anomalous right corner ordered from less sign is a six times more common. We don't really know the incidence of sudden death, though there is an ongoing study, national study looking at this um um To better characterize one, how often this happens? How do we predict what happens? But currently for those patients who have anomalous coronaries, especially the left from right, Even in asymptomatic patients, these Children would undergo operations. That would be there. The reason that we worry about coronary anomalies is really um how they're coming off. So one is, there might be an acute take off of the anonymous corner arteries. So here in this picture you can see how both coronary arteries are coming off the left, a spear and this one looks like the opening is a little bit narrow so they can have a narrow opening that can limit the blood flow. And basically cause sort of think about it is similar to coronary days. Oh spasm sort of angina infarction. You can have intramural course, illustrated by the diagram before and I'm here with a coronary artery is running between the aorta and the primary artery and certainly compressed. Or it can run within the wall of the maya kardian and squeeze every time the heart beats upon it already gets a little bit smaller. And so you can imagine if the heart is beating harder and faster with extreme exercise or exertion, then you can get dynamic compression of the coronary artery that can lead to acute ischemia or over time you can have this happening chronically to lead to chronic ischemia that can lead to small influx that can be a substrate for a particular type of party. And again, often in these scenarios, symptoms are going to be pretty much none unless they have annual chest pain in your exam is going to be normal. Um And this is a challenging diagnosis, right? Because for two reasons screening is challenging. Not all diagnostic modalities are easy to see the corner arteries such as echo, Um and risk assessment is not clear. Um and this was a Italian study that looked at 27 autopsies. They had a high proportion of the more dangerous corner anomaly, which is left from right. Um And the patients that they had data on all their patients had an event during or after just after sports. But all the testing that they had done before, whether that was um E. K. G. Echo stress EKG were normal though. The key thing they always remember is that 10 out of the 27 had some degree of symptoms passing out or chest pain with exertion. This is another bath, famous basketball player, pistol Pete Maravich. He played in the NBA for about 10 years. Very famous, played a hall of famer all star games. So clearly he made it through adolescence, playing sports college At high levels, the NBA at high levels. Um and he at the age of 40 while playing what we suspect is a less competitive game. Church pickup basketball game died settlement. And he had a variant of the right coronary artery coming a single right coronary where the left and the right we're coming off of one spot. So shift away from cardiomyopathy and coronary enamel ease to a few other conditions that I think are important to highlight Marfan syndrome. Um, you're well aware of this. This is an autism, a dominant condition that affects connective tissue or your musculoskeletal system. I and in particular the cardiovascular system. And really what we worry about is the aorta as Australians picture gets dilated, that connective tissue doesn't hold that blood vessel and it's same size and over time they can get larger and larger and larger. It gets large enough that it can dissect and lead to sudden death. Usually a dissection is going to present with chest pain but Violation is not going to be symptomatic. So you're gonna look for Marfan features, family history of our fans and our fans is not not uncommon. It's about one in 20,000 and last is this other condition called commercial corgis. So this is sort of, you know, the classic baseball player who uh or lacrosse or let's say karate or some sport where there's a blunt force to the chest. That here, in this illustration, this baseball is hitting the chest at the right time, where it's hitting the heart is illustrated by the CCG down here at the right point. So right on the T. Wave and it goes from sinus rhythm to VF. So we call this sort of an R. And T phenomenon which induces VF. And it's one of the leading causes of cardiac death. So I've illustrated a bunch of cardiovascular conditions, but when you add up all the cases of commotion Courtis, it puts itself in the top quarter of all causes of sudden death and young athletes. Um Unfortunately, studies that have looked at chest protectors or barriers, I haven't really shown that there has been a risk reduction, but as you suspect, because this event rate is so low, the likelihood that you're going to see a true positive effect is unlikely. Um And here I'm just gonna show you. So this was the video off of Youtube, but this is uh karate match, you just pay close attention to the person on the left, wow. Uh huh. Once he gets punched in the chest, probably be death and well now slumps over and collapses as motionless as you suspect. Um And this sort of is what would manifest um As commercial of course, again, a rare thing, but something that um is not predisposed by any underlying condition, but just by the freak nature of when that uh fist punch was occurring to the chest. So now we'll flip to the last bit channel open. These one of the most common ones we worry about as long through to syndrome. Um This is the Q. T. Interval is prolonged as illustrated here. Um This is due to abnormal ventricular re polarization. There's a variety of genetic causes for this and the rhythm we worry about is to assad's the point which is basically a trick arrhythmia that does not allow the heart to pump blood adequately out of to the body which leads to potentially sudden death. It occurs in one in 2500. Um it's predominantly autism. Oh dominantly inherited though there's an AutoZone more recessive form that's associated with sensory neuronal deafness. Um And there can be sporadic or de novo mutations. They're over now. 16 types of long teacher syndrome, Type 1 2 and three compromise 75- 80%. Um and generally they're provoked potentially by different things. So Type one is by active, your surgeon, Type two by sudden loud noise, like a startle or a fire alarm at school Alarm clock. Take three as these events happened during, during sleep. Um and if untreated, the 10 year risk for symptomatic Long QT syndrome is as high as 50%. And nowadays with awareness who made great strides were now patients who have this condition with the appropriate anti engineering therapy, beta blockers or renovating the heart by the procedure called the left Delhi ganglion ectomy, which prevents it from increasing the heart rate with activity has drastically reduced the risk of cardiovascular events that with the appropriate safety net, there are certain patients that can resume some degree of activity and those who have had an event often will have then an implantable defibrillator. I see for a second pension, the exam is going to be normal. In most cases there are a few variants of Long QT syndrome that have a non cardiac findings. Uh Those kind includes in Back alley um and symptoms. You're worried about her classical and seizure sympathy palpitations often with exercise. Family history. Again is key because of its inheritance patterns. If you get EKGs on parents, about 40% will have a prolonged Q. T. And if you get a family history that's detailed, about 30% will report some degree of sudden death at a young age. And here is the BCG of a patient uh that you may have pain on a patient where the QT interval is more than 560 milliseconds quite long. Just an aside. So how do we calculate the cuties funeral? So it is important not to sort of do the eyeball test and say, well it's just looked short or it's not half the arte are, you can you can be faked out. So um visits formula is the most classic. It's amusing from the onset of the T. Wave to the end of the T. Wave, The best to leads to look at our lead to E. five because they will have a the wave and they'll also have the steepest end of the T. Wave. And that steve bend is whether the T. Wave ends here Generally values, you're going to worry about the corrected QT. If it's more than 460, it's concerning or at least should raise some suspicion. If it's less than 4 40 it's normal. Anything in the middle there sort of borderline, but similar to height with people, there can be people who are seven ft tall that are normal and the people there seven ft tall that have more fans, You can have patients who have QT intervals as high as 4 64 7 even for 80 that are normally don't have long youtube syndrome. So a Q. T. Interval being long does not by the diagnosis. There usually is not a gender preference uh difference at young ages, but females will generally have post people of females were generally have a longer to general than males. And this is what we're really worried about. This is a patient of mine, a baby who had a long QT interval and then would have episodes of non distinct or sods actually presented with recurrent seizures as the presenting symptoms. Another diagnosis just to be aware of. But it sort of mass grades and acts like Long Teaching syndrome is CPT or catacomb catacomb energy polymorphic VT. So it is what it sounds like You're catacombs go up under exertion or emotional stress that results in the polymorphic VT or VF. Um um And so they're EKGs are normal baseline, it's an inherited channel out of the Long QT syndrome. They will have the same thing of exertion related seizure sync api or palpitations and again it's not is only dominant heritage for the most cases. So again a family history of recurrent syncope seizures with activity or exertion will be important. And emotional stress is key here, patients who just get an argument or fight what their sibling or upset or angry or excited watching tv and that alone, if that drives enough adrenaline in their body to increase the heart rate can cause an arrhythmic event to happen. So so it's both exertion and emotion stress. Anything that really can elevate the heart rate um that can lead to this type of problem. And this is what we worry about. This is an E. K. G. Where the patient was stress test. And you can see here um there's A E. K. G. And occasionally there's some extra heart beats and you go from the left of the screen to the right and the right. You see this do not look good, very fast, very irregular, very wide. This is VF, another condition that's an inherited channel apathy is Brugada syndrome. This is a condition that tends to affect Southeast asian ethnicities more, though have been seen other ethnic groups. Um uh They can have normal or abnormal TGS, which will illustrate in a second. Uh and they tend to have events while asleep or with fevers. The fevers can bring out the abnormality that occurs that makes the ion channel not work as well. That can predispose the ventricular fibrillation. So at times that I worry about again the typical sympathy or recurrent a febrile seizures at a typical age with a family history of, you know, sort of atypical seizures. And again this condition, like many of the other inherited channel after these autism really dominate I heard it and this is a classic TCG finding. So if you really focus on the right side of recorded leads V. One, you'll see S. T. Segment elevation. So you'll see this funny pattern here and that's really classic for Brugada syndrome. And it's a very rare finding. If you look at, if your machine reads for you, sometimes it will inappropriately read this or may flag this as a right bundle branch block, more common condition that I think we're all familiar. There's Wolff Parkinson White syndrome. This is just an extra connection between the atrium and the ventricle illustrated on this diagram here, which is the red lines. You have a normal wiring that works well and you have an extra way electricity and go from the top chamber to the bottom chamber. Its prevalence is about one and three per 1000 the majority, about 65% of adolescents. We have this really symptomatic, the most common type of rhythm and you'll see is SPT or super ventricular type of party, which is sort of an abrupt onset, rapid, no complex best heartbeat. Um But these patients can be at risk for sudden death and it's not due to the S. V. T. It's really due to them developing atrial fibrillation that can then now conduct down this extra wire and degenerate into VF. Um and this risk is about one in every 1000 patients per year. Uh and Children tend to have a higher risk of events than adults or an adult who is 40 or 50. Their evaluation for W. P. W. May not be extensively may not even get a procedure to cure the problem where a child who has this will undergo a much more extensive evaluation to determine if that okay extra wire poses any risk for sudden death. In addition to SPT. Um When we see it in babies, you know we have babies who have S. V. T. Or you manage babies, they cannot grow at about 40% of accessory pathways will go away within the first year. But after five years of age the majority 75% of uh kids will continue to have SPT and W. P. W. Upwards of a decade later. So the likelihood is once you're old enough it's not going to go away, you're not going to outgrow it in this scenario. Unlike some of the other conditions where symptoms can be hard to t symptoms are pretty good at correlating between what they feel and what they're having. Which is a rapid heartbeat which is associated with SPT their exams can be normal unless they have congenital heart disease or associated hypertrophic cardiomyopathy and symptoms. You worry about our sympathy palpitations inappropriate tech, cardio, lightheaded business and again chest pain. Getting a sense of if they're having a really fast heartbeat at the time. This is a E. C. G. Of W. P. W. One of the classic findings which is on this area here which I'll zoom in on is a short pr interval with a delta wave. So the small bump here before the onset of the QRS. This is atrial fibrillation uh is just basically a very irregular rhythm uh in someone who has W. P. W. So again unlike you'll see this in the clinic office unless you're working in a sort of consulting and er hospital space practice um We're working out happen is this scenario which I highlighted is this patient wasn't Mhm. Fibrillation W. P. W. And you can see mass with them which is the F. So what can we do? Clearly it's good cpr hopefully there's an E. Available near by and if they have underlying condition dealing with that at the time chronically. It's really identifying them because as we've illustrated getting a thorough evaluation and that may include medicine surgery, cardiac procedures including what do you do? Right. So now you have either kids you're worried about, parents are worried about deciding whether to do anything preemptively or waiting. So you know in terms of pre emptive strategies that put it into a few bins, one is routine visits, those are opportunities to get clinical history and exam, um, that are really important. Uh many of you do this on an annual basis with the pre participation for exam form, really accentuate some of the cardiac questions that we look for a really good family history. This is a pedigree of a family with hypertrophic cardiomyopathy. So you can see if you saw the five year old who is asymptomatic. You can see that there? S detailed enough questions. You can go back to three generations and find out that there really is some abnormality going on in the family. So Really important. So to highlight the importance of clinical examined family history. This was an interesting study that surveyed parents of Children who had cardiac arrest. It was around 80 patients who have families who finished filled up the survey, the average age of 16, were male, But a few important things, 72% of the families reported that their child had a symptom before they're back, 24% say to that symptom was sync up your seizures and many that was recurrent. So on average, more than two symptoms occurred on average 30 months or 2.5 years before the events. So that would have been multiple visits on annual basis that could have been potentially teased out. But unfortunately, as you suspect, symptoms don't always get brought to the attention of the physician, only 40% the time that the families report back to the primary doctor. And importantly, as I've highlighted positive family history, about a third Had some sudden death reported before the age of 50 from a cardiac condition. So doing pd assessments, evaluation gives you opportunity to tease out who to look for and evaluate. So to sum up, I think some key warning signs or symptoms, clearly sympathy and seizures without warning things during exercise or in response to emotional or auditory triggers if you will. That can also include chest pain, palpitations, shortness of breath, chronic exertion and tolerance, or fatigued Um um looking at family history to see if they're related to anybody who has had sudden unexplained cardiac arrest or death before the age of 50. That includes SIDS drownings, um um even expanding it to a typical sync api or seizures. And then really, if there's no diagnosis, do people have cut him up in the family channel out with these uncommon arrhythmias? For age connective tissue disorders. So what do you do with your concerns? I think you have a low index, a suspicion. Clearly a clinical assessment, family history, g expectant management, if you're concerned, always refer, but there's a high index of suspicion. I think the only other thing to consider is restricting them from activity before they can resume um sports until they get their evaluation complete. So in summary sudden cardiac arrest and death is rare in Children. There's a variety of ideologies we don't know the majority of still, but I think with genetic testing that should decrease, there's a high index a suspicion to identify these at risk. So if you're concerned, consider restricting and referring and ultimately the best treatment is prevention. So figuring out who these kids are before the events happened, identifying their disease, before it happens, it's really, really important. Um And lastly, um you know, preventing Sergeant Kartik death in the pro bands, you know, oftentimes it's tragic, It's something we don't want to talk about, Something you want to deal about, deal with and you know, unfortunately can't be avoidable in some scenarios but really doing due diligence to then figure out what happened to that young child or family member whether that's digging up the autopsy going through the family history again because you may then identify hypertrophic cardiomyopathy or long Q. T. And then save other family members live. So on average, when you diagnose one of these inherited conditions that can cause some deaths, About 4-8 other people can be diagnosed and potentially spared an event.
