Why Athletes Collapse

00:00:24
Sargeant: Ooh, I’m not sure, but I got to lie down. This puzzle’s giving me heartburn.

00:00:29
Dr. Kaylee Byers: Heartburn, huh? That’s no surprise. You live on black coffee and hot dogs.

00:00:33
Sargeant: What are you, my doctor now?

00:00:34
Dr. Kaylee Byers: Just saying you keep ignoring your heart. Wait a second. That’s the clue we’ve been missing. We’ve been chasing leads out in the open. But what if the culprit’s been keeping its cards close to the chest, if you know what I mean?

00:00:47
Sargeant: These athletes also have heartburn.

00:00:49
Dr. Kaylee Byers: It’s not heartburn we’re chasing, but something written in the heart’s DNA.

00:00:54
Sargeant: All right, you’re officially on the case.

00:00:56
Dr. Kaylee Byers:  Ahh. You’re listening to Nice Genes! The podcast that goes head-to-head with the big questions in genomics, brought to you by Genome British Columbia. I’m Dr. Kaylee Byers, your teammate in the ring wrestling the heavyweights of science. Boston 1993. The Celtics are up against the Hornets in the NBA playoff opener. Star forward Reggie Lewis has the ball. He makes a quick move toward the basket when suddenly he stumbles and drops. The arena is silent. Teammates rush to his side, the refs halt play, and then he gets back up.

00:01:42
News Clip: Hey, maybe Reggie knew what he was doing. If canned it, took some time off, he’s coming back strong.

00:01:49
Dr. Kaylee Byers: What no one realized in that moment was that Reggie was showing signs of a hidden heart condition and that this would be his last NBA game. But Reggie’s not the only one. In the world of sports, we’ve seen a few high-profile cardiac emergencies on the court. 2012, Bolton Midfielder Fabrice Muamba suddenly collapses during an FA Cup game.

00:02:09
News Clip: To be in some distress as well, Fabrice Muamba.

00:02:12
Dr. Kaylee Byers: 2021, Christian Eriksen, Denmark midfielder falls to the ground in front of millions.

00:02:18
News Clip: Play is going to be halted again. And this does look serious.

00:02:22
Dr. Kaylee Byers: And just this year in 2025, National Women’s Soccer League player Savy King falls unconscious and has to be given CPR in the 74th minute of the game.

00:02:31
News Clip: 20-year-old professional soccer player, Savy King collapsing on the field in the middle of the game, rushed to the hospital.

00:02:37
Dr. Kaylee Byers: So what’s behind these collapses? Is the risk as high as it seems? And how can genomics help us understand the underlying causes and prevent the next tragic event? I may have shared this on the show before, but I like to do a fair share of sporting myself and fitness. And now we’re just a couple of athletes chatting.

00:02:59
Dr. Prashant Rao: Yeah.

00:02:59
Dr. Kaylee Byers: But I’m up here in Vancouver, so I swim with one of those little floaties with my ID in it in case a killer whale comes and eats me.

00:03:07
Dr. Prashant Rao: Okay.

00:03:07
Dr. Kaylee Byers: So it’s… Pretty hardcore, right? Just like our first guest.

00:03:11
Dr. Prashant Rao:  In the past two or three years, I’ve really taken up endurance sports and particularly running.

00:03:17
Dr. Kaylee Byers: Yeah.

00:03:17
Dr. Prashant Rao: So I run a couple of marathons in the past couple of years and so…

00:03:21
Dr. Kaylee Byers: Here to get the ball rolling is Dr. Prashant Rao and when he is not running marathons…

00:03:25
Dr. Prashant Rao:  I’m a sports cardiologist and cardiovascular geneticist at Beth Israel Deaconess Medical Center. That’s one of the affiliated Harvard Medical School teaching hospitals. And I have a clinic, which is probably one of the few clinics around the country that combines both cardiovascular genetics and sports cardiology.

00:03:47
Dr. Kaylee Byers: And a useless question really, but I asked you earlier about putting your microphone up on expensive textbooks we don’t use anymore. Did you actually find one? And if so, what is it?

00:03:57
Dr. Prashant Rao: So the book that I did use that I then removed was The Hitchhiker’s Guide To The Galaxy actually.

00:04:02
Dr. Kaylee Byers: Oh, that’s not useless. No, that’s a good choice.

00:04:03
Dr. Prashant Rao: So yeah.

00:04:04
Dr. Kaylee Byers: While he’s straddling those eras. And if you don’t get the reference, I highly recommend reading The Hitchhiker’s Guide To The Galaxy immediately. Dr. Rao’s work also sits at another unique intersection, sports cardiology and cardiovascular genetics. Can you explain how these two areas are distinct and also how they come together in the work that you do?

00:04:25
Dr. Prashant Rao: So in sports cardiology, we typically deal with both young and older individuals who place a premium really on exercise and performance. And many of them are competitive athletes. And as a cardiologist, when you see these individuals, often they’re being referred to you because they may have some cardiovascular disease that’s either suspected or established that might increase their risk of something called sudden cardiac arrest or sudden cardiac death. And we hear this on the news and sometimes we see it on TV. It’s quite an emotive event when it happens, right? And so one of our main roles is to prevent something catastrophic like sudden cardiac arrest from happening. And the reason why the intersection with cardiovascular genetics and sports cardiology is so important, it’s because the most common cause of sudden cardiac arrest in young individuals, when I say young individuals, I’m really talking about people under the age of 35 years old.

00:05:23
Dr. Kaylee Byers: Can’t we just bump that up to 40? That would feel great.

00:05:25
Dr. Prashant Rao: Exactly. Exactly. The most common cause is actually probably unknown, but it’s likely of genetic etiology. So you can see how there’s this clear intersection and importance of cardiovascular genetics when looking after young athletes as a cardiologist.

00:05:43
Dr. Kaylee Byers: But figuring out whether an athlete has an underlying genetic condition isn’t always straightforward. That’s because even athletes without a genetic condition can have hearts that look a little different. That’s a phenomenon known fittingly as athlete’s heart. And there are some changes we would expect to see in the heart physically for folks who are more extreme athletes, right? I was having my heart investigated and the cardiologist was like,”Wow, you’ve got an enlarged left side of your heart. Are you a marathon runner?”I was like,”Indeed I’m not.”But she said that was really common.

00:06:16
Dr. Prashant Rao: Absolutely. And that’s kind of the importance of the field. Right. So many of the young athletes I see, the question is whether they really do have a genetic heart disease or is this just kind of the expected physiological remodeling that happens after hours and years of training, especially with endurance training. Many of those kinds of features in terms of how the heart remodels, it ends up looking a little bit like individuals with genetic heart disease.

And so it’s a huge call to make to say whether this is entirely physiological remodeling and you’re absolutely normal and continue doing what you’re doing versus actually this doesn’t quite look so right. And those kinds of decisions have consequences, right? Whether you restrict people from sports inappropriately potentially, or whether you tell someone,”Hey, you’re totally fine and continue doing everything that you’re doing,” when actually they are at an increased risk of sudden cardiac arrest because they have a genetic heart disease. And so it’s important to really understand what’s normal remodeling and differentiate it from what’s not.

00:07:23
Dr. Kaylee Byers: And we’re talking about this sudden cardiac arrest that can happen in young people under the age of 35, but we’re open to expanding it to 40.

00:07:31
Dr. Prashant Rao: Exactly, exactly.

00:07:33
Dr. Kaylee Byers: What are some of the most common underlying genetic heart conditions that could lead to sudden cardiac arrest or sudden cardiac death in athletes?

00:07:39
Dr. Prashant Rao: So from a genetic standpoint, I like to classify them among kind of genetics that causes structural heart disease and then genetic abnormalities that can cause more electrical issues. And so this was actually data from college athletes from the NCAA database. What they found was that when you do autopsies on young athletes who have sudden cardiac death, when you look at that heart either kind of visually or under a microscope, often you don’t actually find any structural heart disease. And it turns out that actually if you end up doing molecular autopsies, where you look at the genetics of that individual, actually they harbor a number of genetic variants that code for certain ion channels, for example, in the heart, which really are responsible for normal conduction system in the heart. And so that’s why you’re not necessarily seeing structural abnormalities on the autopsy, but really there’s an electrical problem with the heart.

00:08:40
Dr. Kaylee Byers: What he means is that in many young athletes who die suddenly the heart may appear normal, as a study in the European Heart Journal explains molecular autopsies, which look at DNA, often reveal mutations in ion channel genes. Those are the genes that control the heart’s electrical signals. Under the stress of sports or heavy exercise, those faulty signals can trigger a fatal rhythm. That’s why up to 30% of these cases fall under what’s called sudden arrhythmic death syndrome or SADS.

00:09:14
Dr. Prashant Rao: That seems to be the most common cause of sudden cardiac arrest or sudden cardiac death in young individuals. But the other common causes are when you look at, for example, structural heart disease, you’ll think of something like hypertrophic cardiomyopathy, which is this kind of abnormal thickening of the heart muscle. And then there are other genetic heart diseases like arrhythmogenic cardiomyopathy, which causes some structural changes, but also really can predispose an individual to getting really catastrophic or fatal arrhythmia or heart rhythm disorders. So there are a whole host of genetic heart conditions that can predispose an individual to a sudden cardiac arrest.

00:09:54
Dr. Kaylee Byers: And we’ve seen several high-profile cases of folks who collapse mid-sport events, and there’s a range of reasons why people do this, but when they do, it makes headlines. Right. So how common are sudden cardiac events in athletes in general?

00:10:10
Dr. Prashant Rao: So the UK’s published some very good data about the prevalence and incidence of sudden cardiac arrest as well as when you look at data from the NCAA in the US. What we can safely say is that the rates of sudden cardiac arrest is exceedingly low. So it’s rare, but more and more things are getting televised these days. Right. So the public I think are becoming more and more aware of it because of social media and just events being televised. But I like to reassure that it is an exceedingly rare event happening.

00:10:39
Dr. Kaylee Byers: So you’ve mentioned that genetic heart conditions are usually behind sudden cardiac arrest in young athletes, but in these high-profile cases we hear about, is that typically what’s happening or can other things set it off too?

00:10:52
Dr. Prashant Rao: So when it’s true sudden cardiac arrest, then the most common cause is going to be a genetic heart disease in a young individual. In an older individual, the most common cause by far and away is coronary artery disease. But there are other causes of cardiac arrest as well. For example, there’s something called commotio cordis. It’s a phenomenon where you get hit in your chest at the precisely wrong moment. It can trigger this kind of fatal arrhythmia. So there are rather really rare causes for sudden cardiac arrest, but in a young individual, you have to suspect genetic heart disease before anything else. So something like hypertrophic cardiomyopathy, that abnormal thickening of the heart.

00:11:40
Dr. Kaylee Byers: Meet J. J.

00:11:41
J.J. Machnik: I’m J.J.Machnik.

00:11:43
Dr. Kaylee Byers: And his dad.

00:11:44
Jeff Machnik: I’m Jeff Machnik.

00:11:45
Dr. Kaylee Byers: And his mom.

00:11:46
Laura Machnik: This is Laura Machnik.

00:11:48
Dr. Kaylee Byers: J.J.was always a very active kid.

00:11:51
J.J. Machnik: I used to play a lot of sports, but really big into wrestling.

00:11:54
Dr. Kaylee Byers:  J.J.was 14 when he got his diagnosis.

00:11:57
J.J. Machnik: I have a genetic heart condition called hypertrophic cardiomyopathy.

00:12:02
Dr. Kaylee Byers: But he was cleared to be on the wrestling team and nothing happened for years until one day when he was 18.

00:12:08
J.J. Machnik: And I survived cardiac arrest. I was overweight for my wrestling tournament. So the night after work, I went home and I got on the treadmill for a little bit and I was running to lose some more weight and then I ended up losing a pound or two. And then I went to sleep and I woke up, said, ‘Holy cow, I am six pounds overweight for my weigh-ins,’ which were that next morning. And then one of my good buddies has a sauna and a treadmill and wrestling room all at his house. So I got up real early and I drove over to his house. And what normally happens is I go in there and I’ll either go into the wrestling room and I’ll break a sweat and then go into the sauna and sweat out the rest of the weight.

00:12:57
Dr. Kaylee Byers:  For those who aren’t wrestlers, this might seem a little extreme and it is, but this is something a lot of wrestlers do to fit within the weight limits in wrestling tournaments. Picture a classic 70 style movie maybe featuring Sylvester Stallone running down the street wearing a garbage bag. Am I misremembering videos of wrestlers jogging in garbage bags?

00:13:18
J.J. Machnik: No. Yeah, no, that’s totally, totally. I wasn’t wearing trash bags or a sauna suit or anything, but I was wearing a long-sleeve shirt and I had them taped around my wrists and my ankles, and then I had a sweatshirt on.

00:13:30
Dr. Kaylee Byers: Wow.

00:13:30
J.J. Machnik: And then another shirt over top of that to keep everything all tight.

00:13:33
Dr. Kaylee Byers: Basically making himself a hot potato wrapped in tinfoil and cranking up the oven.

00:13:39
J.J. Machnik: I got there at 7AM and the last thing I remember was I dropped my phone on their bricks outside their house and I cracked it and I picked it up and I was like damn, I really cracked my phone. Walked inside and then that’s all I remember.

00:13:52
Dr. Kaylee Byers: But for Jeff and Laura, their versions of what happened next are a bit different.

00:13:58
Jeff Machnik: I was just kind of getting my morning started and while I was getting ready, I had a missed call from his mother. I didn’t think anything of it.

00:14:06
Laura Machnik: I had just gotten to work. It was 10 to eight in the morning and my friend called and said,”You’ve got to get to my house as fast as you can. J.J.collapsed on the treadmill.”

00:14:17
Jeff Machnik: Within the next couple minutes, his mother called my wife and just said,”Hey, J.J.passed out.” I figured he was a few pounds overweight and he was trying to get some off, probably dehydrated type of thing. I didn’t think it was anything crazy right off the bat, put it that way.

00:14:32
Laura Machnik: I asked her if he had a pulse, if he was breathing, and I got in my car and drove 20 minutes. When I got to her house, there was EMS, the ambulance, six cop cars. I mean, it was lit up like you wouldn’t believe.

00:14:49
Jeff Machnik: His mother called back and I answered this time, and I mean I heard it in her voice immediately.”They’re doing chest compressions on him. He’s going to the hospital, you have to get there now.” I mean, everything just kind of turned into a blur after that.

00:15:05
Laura Machnik: They transferred him to Center State and they couldn’t get his heart rate steady. The doctor came in and said,”I’ve done all I can. His heart is working against us.” And then he left the room.

00:15:17
Jeff Machnik: Yeah, it was just a horrible feeling.

00:15:18
Dr. Kaylee Byers: Yeah.

00:15:19
Jeff Machnik: I was kind of waiting for him to tell me something that I didn’t want to hear.

00:15:23
Laura Machnik: And we just sat there looking like, what does that mean? And then about 10 minutes later, the doctor came back in and said he was more optimistic. They got his heart rate steady and they’re packing him up to be transported to Morristown Medical Center where his cardiologist is.

00:15:41
Jeff Machnik: Unfortunately, that day the weather was pretty bad. It was thunder storming and stuff like that. They wanted to airlift him, but they couldn’t get clearance to fly.

00:15:48
Laura Machnik: So they had to take two ambulances, one with him and one with all the equipment in case anything happened.

00:15:54
Jeff Machnik: And I mean, you want to talk about the longest hour drive I’ve ever taken in my life, was following those ambulances to Morristown Hospital and I was by myself in the car, just right behind them.

00:16:04
Laura Machnik: And then by the time we got to Morristown, they told us they were going to put him in a medically induced coma for 48 hours. He was hooked up to probably 15 different IVs, and the first four or five days were extremely concerning because his heart wasn’t working the way that doctors needed it to. And they ended up having to put him on the ECMO machine, which is an end-of-life machine.

00:16:32
Jeff Machnik: They put him on the ECMO machine, which basically pumps the blood through for him, and they cooled his body temperature down basically to allow his brain to heal. And then after a week, they slowly raise his temperature up with the hopes that his brain function would return to normal. It was just kind of a waiting game.

00:16:51
Laura Machnik: And then it was Mother’s Day Sunday and they were bringing him out of the coma and they weren’t giving him any more of the medicines to keep him sleeping and his eyes were flickering under his eyelids.

00:17:05
Jeff Machnik: They would come in and say, “J. J., can you wiggle your toes?” And he would wiggle his toes and everything kind of started coming back slowly. And then that’s when we kind of had an idea that everything was going to start being okay.

00:17:18
Laura Machnik: It was just like this most amazing moment that he’s alive. And the next morning they said he’s being removed from the ECMO machine because his heart started working again last night.

00:17:33
Dr. Kaylee Byers: After days of battling for his life, J.J.was going to be okay.

00:17:37
Jeff Machnik: I mean, definitely partly a miracle as far as I’m concerned too, because from what they said that heart unit is a lot of people don’t walk out of there.

00:17:46
Dr. Kaylee Byers: Yeah.

00:17:46
Jeff Machnik: And we have video of him walking out of there with all the hospital employees, lining the hallways, giving him a standing ovation. It just doesn’t happen. But there he is.

00:18:02
J.J. Machnik: Every doctor, every nurse, every helper, every staff member on my floor was outside of their door clapping for me and I felt like a superhero and I didn’t even do anything. They did it all for me and they were clapping and it was just unreal. It was unreal.

00:18:20
Dr. Kaylee Byers: Coming up, the reason J.J. survived, a genetic clue, a plan in place and a group of friends who knew exactly what to do.

You’re listening to Nice Genes!, a podcast all about the fascinating world of genomics and the evolving science behind it, brought to you by Genome British Columbia. I’m your host, Dr. Kaylee Byers, and if you like Nice Genes!, hit follow on Apple podcasts or wherever you get your shows and leave us a review. Like this episode? Don’t keep it on the sidelines. Share it with the teammate to keep it in play.

There are many heroes in J.J. ‘s story, J.J., his parents, paramedics, the many, many doctors, but there’s another very key part that his parents didn’t witness. When he collapsed, the friends around J.J. didn’t freeze. They acted fast.

00:19:14
Jeff Machnik: They’re the reason why he’s here period. When he dropped on the treadmill, his friend Giovanni and his other friend’s little brother Trevor, went right to action and they started performing CPR on him. They knew about his heart condition. So when he went down and was unresponsive, they just knew what was happening and they jumped right into it. Performing CPR until the paramedics arrived, basically provided the oxygen to his brain. They kept him alive. And it’s literally because of them. They’re absolutely heroes.

00:19:44
Dr. Kaylee Byers: So how did they know exactly what to do? Well, J.J.’s heart condition, hypertrophic cardiomyopathy, it runs in the family.

00:19:52
Jeff Machnik: I found out, it was in my early 40s. I just went to my doctor for my, kind of like a regular checkup type thing, and I’ve always had a heart murmur. So in this case, he sent me for some more testing just to check on the murmur. And it came back with the results that I had obstructive hypertrophic cardiomyopathy. So I had to go see a cardiologist immediately, and it got to the point where I needed surgery to correct it, at least the obstruction part. I still have the hypertrophic cardiomyopathy, but the obstruction part is no longer there.

00:20:21
Dr. Kaylee Byers:  I mean, you were an athlete your whole life ahead of this also, right?

00:20:25
Jeff Machnik: Yeah, I played baseball, soccer all through my 30s, had no idea that I had it the whole time. I mean, it’s kind of luck that nothing never happened to me the way it happened to J. J., but I was diagnosed and found out it was a genetic thing. Once we found that out, I had to have my kids tested. And obviously that’s when we found out J.J.had it as well. That was huge because obviously knowing that he had it allowed everybody around him to kind of be prepared for something if it happened.

00:20:54
J.J. Machnik: Yeah, just getting the actual diagnosis from the doctor was more or less just the stamp that we needed to really spread the word. This is what he has. If he passes out, it’s this reason, CPR immediately. It just kind of like, it gave us motivation to spread the word because if anything did happen to myself, then I have a better chance of living.

00:21:16
Dr. Kaylee Byers: For their family, it’s simple. Having the genetic test results gave them the knowledge to be ready if anything ever happened, and it clearly made a difference. But in sports cardiology, there’s still a bigger conversation about how this kind of genomic screening should be done.

00:21:32
Dr. Prashant Rao: There is a hot debate actually, when it comes to cardiovascular screening of young athletes and I think what there isn’t debate about is that we should be doing screening. What there is debate about is what’s involved in the screening.

Everyone kind of agrees that young athletes competing should undergo a cardiovascular evaluation that should at least include a history and physical examination. Where the contention lies is the addition of a 12 lead electrocardiogram, which is the electrical tracing of the heart. And for many years now in Europe at least, it’s been kind of a mandatory thing as part of the pre-participation evaluation. Whereas in the US, we become slowly kind of adopting it more and more actually. But it’s been a slower adoption compared to Europe, and there are reasons for that.

The idea of genetics as a screening tool is fraught with a lot of uncertainty. For example, an 18 or 19-year-old who has a promising, let’s say basketball career ahead of them, you ended up doing a genetic screening even though they’re asymptomatic and they don’t have a family history of anything, and it turns out that they have a potentially, let’s call it a pathogenic variant, a variant that we know can cause disease, right, that may predispose this individual to developing hypertrophic cardiomyopathy. Well, you’ve got to take a step back and say, this person, let’s say they’ve had the ultrasound scan of their heart or even an MRI scan of their heart, and their heart looks absolutely normal.

The question is, what are you going to do with that information? This individual may not even go on to develop hypertrophic cardiomyopathy in the next five years during their playing career. They may not develop it for the next 20, 30 years. They may not develop it at all. Right. And so when you’re doing this at a population level, the best way to integrate genetics is in a targeted fashion, but doing it at a population level, it raises more questions than answers. Because let’s say we did genome sequencing as a pre-participation evaluation, and the individual is negative, right? Negative for any pathogenic variants that we know can cause genetic heart disease. We know that there’s a large proportion of individuals who test negative but still go on to develop that genetic heart disease.

00:23:55
Dr. Kaylee Byers: Right.

00:23:55
Dr. Prashant Rao: So if you’re positive, it doesn’t necessarily mean you’re going to get the disease. And if you’re negative, it doesn’t necessarily mean that you’re not going to get the disease.

00:24:02
Dr. Kaylee Byers: It’s complicated. Genomic screening can be like detective work. It can turn up vital clues that help us survive just like it did for J.J.But detectives know you can’t jump to conclusions. The way we do this screening has to be careful and thoughtful so we don’t raise unnecessary fear or sideline people from the sports they love. For young athletes, that kind of verdict can be devastating as J.J.found out after his first round of tests.

00:24:28
Jeff Machnik: We had to pull him from all his sports initially right off the bat until he got tested and everything else. And yeah. That was kind of tough.

00:24:36
J.J. Machnik: It was just not good at all. We heard that and my mom, my dad and myself, we kind of were like, that’s literally my whole life. What do I do now? I genuinely didn’t know what to do with myself.

00:24:49
Dr. Kaylee Byers: So how do we manage this risk? So you do a genetic screen and a patient comes back as positive for one of these pathogenic characteristics in their genome. Does that mean that person should stop engaging with sport? The complexity there, right?

00:25:04
Dr. Prashant Rao: So much complexity, and it’s actually only really the last five years, let’s say, where we’re becoming a little bit better at kind of understanding these processes, but there’s just so much that we don’t understand still. So for example, even like five, 10 years ago, people are kind of clumping all genetic heart disease together, right, but there are different diseases within that group. And then even within each disease, let’s take arrhythmogenic cardiomyopathy, which is a specific type of genetic heart disease. We’re now understanding there’s a lot of variations even among that particular what we call phenotype. And so we now have to move and we are slowly doing this, but we have to move towards a stage where we’re treating individuals on almost like a genotype basis rather than just clumping them all together and saying they’re all the same because they’re not.

00:25:57
Dr. Kaylee Byers: So how does knowing the type of genetic cause or underlying condition, how does knowing what type that is help inform an athlete’s decisions or a healthcare provider’s decisions about how to guide patients?

00:26:10
Dr. Prashant Rao: Yeah, that’s a great question. And like I said, I think it’s a aspect of this field which is evolving and will hopefully get better with time. But different genetic heart diseases have different interactions with exercise. So in some genetic heart conditions, exercise seems relatively safe to do, i. e. it doesn’t really increase the risk of having sudden cardiac arrest drastically, nor does it increase the progression of the disease. Whereas in other genetic conditions like the traditional form of arrhythmogenic cardiomyopathy, the signal from the data that we have is that high intensity slash high volumes of exercise may actually increase quite prohibitively the risk of sudden cardiac arrest and may also increase the progression of the disease. But like I said, even within arrhythmogenic cardiomyopathy, the genotype is important because I don’t think all the genes that are implicated in that disease behave the same way in their interaction with exercise.

00:27:17
Dr. Kaylee Byers: So for a patient, depending on what the underlying genetic profile is, you might say, hey, you’re not a sprinter anymore. But long distance, lower impact.

00:27:28
Dr. Prashant Rao: There’s an aspect to the genetic profile, and then there’s an aspect to the sports specific nature. Right. So different sports exert different demands on the human body. So for example, the sprinter is either going to have these short bursts of very high intense activity, and theoretically when you have a high level of adrenaline going through your body, it may actually increase the risk of having heart rhythm issue during that time. So that risk profile is a little bit different to, for example, someone who is a long distance runner. But all I’m trying to say is that different sports will have different profiles of risk as well. And so again, part of the job is to figure out the genetic profile of the individual and the genetic risk associated with a bad event, but also the sport specific risk for this as well. I love doing this job, and it’s purely because if someone told me you can never run again, or you can never play sport again or go to the gym again, my quality of life will take such a big hit. And it’s so easy for a cardiologist or any physician to say, Hey, don’t ever do this again in your life. And so it’s great to be able to take the other side of the coin and really try and work with people to get them doing what they really love doing.

00:28:47
Dr. Kaylee Byers: There are a lot of factors to consider when making the tough call on whether athletes should engage in certain sports or not, but the more we learn about genomics, the more doctors can prescribe a plan that minimizes risk while maintaining their quality of life. J. J., how are you doing today? What’s up with-

00:29:03
J.J. Machnik:  I’m full health.

00:29:04
Dr. Kaylee Byers: What’s up with sports?

00:29:06
J.J. Machnik: No sports anymore, sadly, but.

00:29:08
Dr. Kaylee Byers: No sports.

00:29:09
J.J. Machnik: Yeah.

00:29:10
Dr. Kaylee Byers: Did you take up knitting?

00:29:10
J.J. Machnik: Nah. I should have learned though honestly. I can still work out. I can’t physically compete. So wrestling is one-on-one. I can’t do that.

00:29:21
Dr. Kaylee Byers: Yeah.

00:29:22
J.J. Machnik: I can throw, I can catch, like I can play with the ball, play basketball, baseball, football. I can go to the beach. I’m basically a normal kid except for the competing factor.

00:29:33
Jeff Machnik: Except he does have the-

00:29:35
J.J. Machnik: Oh, yeah.

00:29:35
Jeff Machnik: Defibrillator.

00:29:36
J.J. Machnik: Defibrillator inside my chest. And if my heart ever stops, it shocks it back to the regular beat and literally just sitting, it’s sandwiched between my chest muscle and my skin and just sits there.

00:29:49
Jeff Machnik: Basically because of it is, I mean, his heart’s safer now than it was ever.

00:29:55
J.J. Machnik: Yeah, ever.

00:29:56
Dr. Kaylee Byers:  My sort of last question for both of you is what you hope people take away from your experience more broadly?

00:30:01
J.J. Machnik: The fact that spreading awareness is literally life-saving. I was 14 years old when I found out I was diagnosed, and it’s scary. You feel different. You’re not the same as everyone else. You have a heart condition, and that’s okay though. You just have to make it known to people in case of the worst case scenario.

00:30:21
Jeff Machnik: And yeah, the other side of that is just the CPR training. I mean, just be CPR trained. If you’re not trained in it already and there’s an opportunity to get trained, do it. Don’t pass it up because you never know when that situation could occur where you could help somebody. I mean, without the genetic testing, we would’ve never known J.J.had this to begin with. And in this situation that knowledge was the power that kept him alive.

00:30:47
Dr. Prashant Rao: When it comes to the integration of genomics with this, I’m kind of excited about the future, to be honest, because I’ve hopefully got a number of years ahead of me when it comes to research in this field as well. And it’s a really exciting and promising time. With the development of new technologies, more and more people are going to get genetically tested, and we’re going to have such a better understanding of the interaction with genes and genetics with heart disease to hopefully be able to be far more precise about our exercise recommendations for these individuals. Because right now I think we’re a little blunt, but we do the best we can. And in the future, hopefully we’ll be far more targeted and precise with our prescriptions.

And so for parents out there, I would urge your children to see their cardiologist or general physicians to have a pre-participation evaluation that should at least include a history and physical examination. And hopefully over time there’ll be more and more clinics around the country that really have a focus on integrating genetics with sports cardiology to provide kind of tailored management plans for the individual athlete in front of us.

00:32:01
Dr. Kaylee Byers: Well, that is wonderful. Dr. Prashant Rao, thank you so much for taking the time to come on the show and answer my own personal heart questions. That was fantastic.

00:32:10
Dr. Prashant Rao: Absolutely. Thank you so much for having me. It’s been great.

00:32:15
Dr. Kaylee Byers: Well, another case closed. While some folks might just have a simple case of heartburn that a little Pepto-Bismol can fix.

00:32:22
Sargeant: Hey, I’m right here.

00:32:23
Dr. Kaylee Byers: For others, the cause runs deeper right down to their genes, and that’s where genomics helps us get to the heart of the matter. Our guests for today were J. J., Jeff, and Laura Machnik and sports cardiologist and cardiovascular geneticist Dr. Prashant Rao from the Beth Israel Deaconess Medical Center.

You’ve been listening to Nice Genes!, a podcast brought to you by Genome British Columbia. If you like this episode, go check out some of our previous ones wherever you listen from. Share us with your friends and leave us a review. You can also DM the show on social media by going to @GenomeBC.

Diseases spread in all kinds of ways, through the air, through our fluids, and through the little critters that carry them from host to host. Next time we explore what makes a perfect disease carrier and what makes us as humans such hospitable hosts.

00:33:18
Dr. Gonzalo Vazquez-Prokopec: I have yet to find somebody who can tell me I love ticks. We all get unified to the idea that we all hate mosquitoes, we all hate ticks.

00:33:27
Dr. Kaylee Byers: Hope you had a ball listening to this episode. So long, and thanks for all the fish. Now go read Hitchhiker’s Guide.