Episode 5 - HCM Update, part 1, Diagnosis, Testing, and Patient Perspective

Join us for a discussion with Dr. Milind Y. Desai, an authority on hypertrophic cardiomyopathy and lead author of the highly touted VALOR-HCM study presented at ACC.22.  HCM advocate Mike Papale also joins us.  In this first of two parts, we discuss the patient perspective and pearls from Dr. Desai on the clinical manifestations and role of diagnostic testing. Please look out for part two where we will discuss patient management, including the role of new agents. Please subscribe to receive updated episodes automatically! More information at https://www.ohioacc.org/cardiohio-podcast/.  

“Upbeat Party” by scottholmesmusic.com

Please subscribe to receive updated episodes automatically! Visit https://www.ohioacc.org/cardiohio-podcast/.

“Upbeat Party” by scottholmesmusic.com

Transcript

Kanny 0:03

This is the cardio Ohio podcast, the presentation of the Ohio chapter of the American college of cardiology. This is canny gray wall president of the Ohio chapter and host for today's discussion. Further information about this podcast, including speaker biographies, as well as references are available@ohioacc.org. Where you can also provide feedback and suggestions for future topics. The podcast will also be available for download wherever you access podcasts, and we encourage you to subscribe, to receive updates on future sessions I'd like to welcome everyone to episode five of our cardio Ohio podcast. We have a very special episode today. We're gonna be in the next two episodes giving some, updated information on hypertro for cardiomyopathy, including some of the new trials that were just released at the ACC meeting. Last month, we have a very special guest doctor Desai from the Cleveland clinic. Who's a thought leader. and one of the top clinicians in the world in treating this disorder. But before we get to Dr. Desai, I wanna introduce a very special guest, Mike Popel, Mike is a, advocate for patients with hypertrophic cardiomyopathy and he has a Very nice personal story to explain why this became his life mission. He's, the author of the book, a big heart. And he's also the founder and CEO of the nonprofit organization in a heartbeat. I don't want to give away too much of Mike's background because I'd rather have him tell his story himself. But Mike, welcome to our podcast.

Mike 1:43

Yeah. Thank you so much for having me. I'm excited to, have the convers.

Kanny 1:47

so, we have an audience of cardiologists, but also cardiac nurse practitioners, fellows in training and other students who are undergoing training. Of course, on the cardiology side, a lot of us are familiar with hypertrophic cardiomyopathy. It's a condition that we all have been taught about. It's something we look for in a lot of our patients. And of course, many of us have patients with that condition that we. On an ongoing basis, but I always think it's helpful to get the patient perspective. And I thought we could just start by having you kind of talk about your story and, and how you came to be an advocate for this disease.

Mike 2:24

Yeah, I guess before I talk about, my initial diagnosis, you know, growing up, which, which I think is an important part of it is, is that I. like, like a lot of these stories that you hear. I, I was a really healthy young athlete. I was, in really good shape. I, I went and saw like a pediatrician every year. and so there was nothing that really stuck out to him or stuck out to my parents, for them to potentially get my heart checked. And, I didn't really ever have signs or symptoms of, heart disease. and. You know, if I did, I didn't really associate them as symptoms, I guess I would say, you know, and, and like looking back now, because I'm so aware of what those symptoms are, it might have been different, but when you're, when you're 15, 16, 17, and, and you're just kind of living your life and, training at a high level, you, you kind of associate some potential symptoms with maybe I'm. Pushing myself to be really, really good. I was, I was getting recruited to play basketball in college. And, at the end of the summer, between my junior and senior year of high school, I was a camp counselor at my dad's basketball camp and my hometown. So it was the last week of summer before school was about to start and on Wednesday. My brother and I, he was 13 and I was 17. At the time we decided that the next morning we were gonna wake up early and go do a basketball workout, prior to going to work at this basketball camp. So, the next morning, August 24th, 2006, we woke up, one of our friends came and picked us up at our parents' house and we, we hopped in his car and drove over to. a local prep school where we, got in the gym and, and did a basketball workout for about an hour and a half. And, you know, I, I can remember the workout still today. It was completely fine. completely normal, nothing really, stood out to, to think anything would be different that day. but after the workout ended, we drove over to the parks and reparation center in town where, the camp was being held. it was like eight o'clock. I walked in and said hi to my dad and, and ordered some lunch for the day. And after that, I, I don't remember anything that happened for, the next two days, actually. So, two and a half hours went by of me, you know, refereeing games, coaching kids, you know, hanging out with kids, being a typical. Camp counselor. And at 10 30, I was sitting on the bleachers and my best friend was sitting next to me and my brother was refereeing the game on the, on the court. And I just kinda face planted, outta nowhere onto the ground and, and went in the Southern cardiac arrest. And I, I got really lucky because, you know, I was agonal gasping and, The, one, some of the people that were trained at the camp and CPR actually did not do CPR on me because of those agonal gas thinking that, you know, the noises I was making, actually meant I was breathing, and the building, which again was a parks and reparation center that hosted camps, workout classes for adults. you know, anything you could think about activities in town did not have, an a E D in the. so obviously those two factors, put my odds of survival, much lower. but I got really lucky because, you know, they, they were smart enough to call 9 1 1 and in the building next door, there was a guy sitting at his desk and he was a volunteer EMT. So he, he got the 9 1, 1 call. It came through to his pager. He recognized the address and wandered over, and he found me and, and again, continuing the agonal gas and changed colors. and he did CPR on me for a significant period of time before the ambulance arrived. And the EMTs were able to use the defibrillator to shock my heart. They were able to get a, a normal rhythm back, and then, sent me off to the hospital and, then to another hospital in Hartford, Connecticut, and, I don't remember anything for two days, but they told my parents the first night, they sat with the cardiologist, who, who I'm still very close with. but they told my parents that I had heart disease and, they most likely. It was something, that was wrong in my heart that caused a cardiac arrest. And, you know, my parents were just so shocked because we didn't think heart disease could affect a young, healthy person. i, I went through a bunch of tests once I became aware of everything going on and was, eventually diagnosed with hypertrophic cardiomyopathy and, it was definitely a day. Changed my life significantly, moving forward.

Kanny 6:45

Yeah. That's certainly a remarkable event. what are some of your first memories about waking up in the hospital and what were some of the thoughts that started swirling through your head as you realized what had happened?

Mike 6:55

Yeah, the first memories really are going through all the, the different tests that. I had to go through the determine. So the, you know, cardiac catheterization and the cardiac MRI, which for me, was a, a rough, a rough experience just because I don't, I don't sit still all that well, which isn't good for, for an MRI. and, but, the real moment when my doctor came in and, and kind of explained everything to me that, I had this diagnosis, explained cardiac arrest, explained the statistics along with cardiac arrest and. and then explain my personal situation of, not having CPR immediately and not having an AED in the building and how low a chances of survival when those two, when those are the two factors in place. And, and in kind of in the same sentence said, you know, you're, you're lucky to survive, but, you know, the bad news here is you're, you're never gonna play basketball again. And for. You know, a young 17 year old guy. I wasn't really well rounded. I didn't have a whole lot of other hobbies. Didn't really, have any sort of purpose other than being this young basketball player, at the time. And, so there's a lot of a mixed emotions, I would say at first, because of course. You know, when a doctor says, you know, you were lucky to be alive, statistically, maybe you shouldn't be, based on the amount of time that went by. so I was obviously felt lucky for that, but also, you know, feelings of anger and sadness and depression of like, I, this was my goal in life, was to play Kyle's basketball and, and that was all taken away from me. and, and I kind of felt like my purpose was, was pulled away. So. There were definitely mixed emotions at that time. And, I was lucky to have some good people around me to, to kind of, to help me, help me get through it.

Kanny 8:34

Yeah. I was gonna ask you that because obviously a lot of us deal with survivors of arrest. But even when you have a positive outcome, sometimes there's still, changes in your mood, your, your self worth, and it can lead to a lot of negative thoughts. But in going through your book, Obviously you were able to kind of transform all those emotions in, into positive energy. Do you think that was because of your own personal constitution? Do you think it was because of your family and support structure and friends or a combination of those

Mike 9:05

so of course, like the support of just having family and friends around me was. But like for me to really like move along with my life, I had two cardiologists that I was seeing, my one in Hartford and one in Boston and, and, they really helped me kind of, kind of move forward because like you mentioned, like you get this diagnosis and. I, I think a lot of times the first thought is like, oh, like my life is, quote unquote over, like, it's never gonna be the same. what am I gonna do? What's like, how am I gonna move on from this? I went through my senior year of high school, really struggling with like, People, everybody knew what happened. So people looking at me differently, my parents kind of being extra worried about me at a time in my life where you kind of like want some independence when you're, you're 17, 18 years old. And then kind of like still like hanging on worried of course that's something else is gonna happen. And, so there was a whole lot going on, but meeting with my doctors and, and having them really. Tell me that if I was patient and as time went on, I just trusted my defibrillator, trusted medication, trusted their guidance that I could get back to living a normal life. I mean, that. That was huge for me and, and, and just having that feeling that I'm gonna get my life back to normal was, was huge. And, you know, 16 years later, I'm proud to say that I, I really do have a normal life now.

Kanny 10:22

I know we've had a chance to talk. I've heard about how you, you coach your own kids in basketball and, and you're active in other ways. And by the way, in Mike's book, he really gives a very detailed account of the patient perspective of going through, the various procedures, the, I C D implant, even the MRI and how you got anxious about, being constricted in there. So I would encourage all of our listeners to. To read that book because I think it really gives a different perspective than what we see every day as clinicians. But at one point, as you were recovering and starting to get back to your normal life, did you realize that you could become an advocate for this condition or, or contribute even more, beyond just your own personal journey to, other patients and providers who, who have been dealing with this disease?

Mike 11:05

Yeah. So the, my first, experience. Advocating and giving back was with the American heart association, who I'm still very close with today. And, you know, we, we got connected with them right away and, you know, I was able to go around, share the story. We helped them. We went in lobby for legislation, for AEDs and schools in Connecticut. And we did all these really cool things. and, and, and that was really kind of what, what helped me understand that and, and doing, giving back and then as time went on, it took a couple years I would say, but I started to exercise again. I started to kind of like, just in general, take control of my life back and feel like confident living every day, which is, is really important. and then I started to kind of develop a passion for like, the importance of patient, being able to. Connect and learn from other patients. So, I, I, I just have a, a big feeling that obviously your doctor is out of first and foremost, most important people that you need to learn and, and from, and trust. And then I think a huge part of the treatment process is connecting to other patients and just learning from people that have gone through some similar things that you're gonna go through. so that that's really what, what motivated me as I started kind of getting healthier and, and living. What I thought was more normally, that I could have an impact on other patients going through, you know, what I was going through as well.

Kanny 12:29

So, I'm a sports cardiologist myself. in the past we had very black and white recommendations about activity restriction, what a athlete can or can't do with a given condition. And we've tried to move in the last few years to this shared decision making concept where this never really black or white it's really, taken the. Information and evidence you have about it given patient's condition and then talking to them about, restrictions and risk going forward. Do you feel like you're cardiologist over the years also kind of engaged you in those conversations to help get you back to the activity level you're at now where you're active and coach and do other activities?

Mike 13:08

Oh, definitely. I mean, it, it has been 16 years, so I've seen. Change, which is, which is, which is amazing. I mean, if, if, if the opportunity exists and presents itself for, for someone to participate in sport that they love and, and, the, the risk is understood and, and, and they wanna move forward and do it. I, I think they should be able to do that. you know, there was a, turning point for me, which was, a conversation that I, had with, an electrophysiologist about my I C D, which really helped me. And that was, one of the stories early on that I always tell people is I, I was afraid. Of dying. When I left the hospital, I was afraid that I was gonna die in my sleep and that my ICD wasn't gonna shock me. And, the, the electrophysiologist she made a comment. That it's interesting. You say that you were afraid to go to sleep because when I put an I CD in a patient, I sleep better. and it just really put it in perspective for me and just hearing her confidence and technology and confidence in keeping me safe. And so, yeah, I, I mean, having those conversations with my doctor is, is what really allowed me to be comfortable and, and exercise knowing that, you know, I can do this and still be safe. so I guess my, my biggest thing would be just, just, just to be open and, and just help, patients believe that, you, you can, right after diagnosis, it's not gonna happen overnight. You have to be patient. You have to listen to your body. You have to take some time, but you are gonna get back to living this, this normal life. And you're gonna have a very fulfilled life living with heart disease.

Kanny 14:39

Well, I think those are good reminders for our clinicians. so what are some of the future goals for your foundation and your personal work as an author and advocate

Mike 14:47

for you? Yeah, I mean, I, you know, obviously the, the big goal, I think, with what we do within a heartbeat, you know, we're, we're trying to, to prevent that from sudden cardiac arrest. So over the course of time, something that would make me really happy is to see less people dying. I know. You know right now from a statistical standpoint, survivor rates and cardiac arrest, I believe are still right around or right below 10%, out of the hospital. So the hope is that those numbers go up, and then that's of course, done by, by people being prepared and having AEDs and emergency action plans. You know, we're, we're working on primary prevention with some ECD screening. So, just, just, just seeing less people die from cardiac arrest and heart disease is, is, what our goals are and what we.

Kanny 15:34

Yeah, that sounds great. I know at the advocacy level, and of course it's state by state, but we are seeing a lot of bills now. There's been one in Ohio that mandates CPR training for all high school students. And of course, we're also advocating now to have AEDs at every site. So I think there's multiple. Ways we can, collaborate, and work with other healthcare organizations to try to reduce that burden because it really is still a burden for sure. What we've been, talking to Mike, who's the author of the book, a big heart. We're gonna put a link to that book. In the, information for this, podcast episode, as well as his foundation. Mike, once again, we just really appreciate you taking a few minutes to give us your perspective and kind of remind us, what the focus really is, which is the patient's experience.

Mike 16:21

Thanks so much for having me.

Kanny 16:24

For the rest of this episode, we have a very special guest as we continue our discussion on the clinical diagnosis and management of hypertrophic cardiomyopathy. Before we proceed. I want to introduce my co-host. I'd like to introduce everyone to Ben Allen cherry. Ben's a third year fellow in general cardiology at the Cleveland clinic, and he'll be continuing his training in cardiovascular imaging. He's also gonna be the co-chair of the fellows in training council of our Ohio chapter in the upcoming year. So he has a strong interest in education, social media, and he's, gonna. Not only co-hosting today's podcast, but helping with some future podcasts as well. Ben, welcome to the show.

Ben 17:10

Thanks Dr. GU all excited to be here.

Kanny 17:13

And I'd also like to introduce our very special guest. we're really honored to have Dr. Melin Desai. Who's professor of medicine at, at the Cleveland clinic and also a clinical cardiologist. He is. Very interested and has devoted a lot of his career to our understanding of hypertrophic cardiomyopathy, including some important recent studies. And we're really delighted to have him join us to talk about not only the, clinical presentation and diagnosis of the condition, but of course, the recent valor HCM study, which he presented at the ACC just a few weeks ago. Dr. Desai welcome. Thank you very much

Dr Desai 17:52

for having me here. It's a pleasure.

Kanny 17:54

Dr. Desai, before we get into a lot of the clinical information about HCM, Ben and I both thought it'd be very interesting if you just could kind of summarize your journey as a clinician, how you, went from your training in general cardiology to having an interest in HCM and how you proceeded to end up being what we consider a clinical leader in that field. Yes.

Dr Desai 18:17

So I was originally hired at the Cleveland clinic in 2005 to do multi-modality imaging. Actually, I was one of the first ones to actually have a joint appointment in radiology, in CT MRI, along with echo and at the clinic, you are expected to be a, a clinician also on top of everything. as I walked in here, we had a large practice of eight cm, and, and a good surgical program, but there was not much by way of research productivity. So we started. Asking interesting questions. The initial set of research questions were all driven by imaging because that's where my, original con sort of footing was. And then, you know, once we started unraveling those questions and answers, we start, I started moving into larger scale outcome study, and now we are doing a multicenter trials and we are also dabbling a bit in artificial intelligence. genetics, gene therapies, et cetera, et cetera. So it, it meandered in a good way towards where we are right now, but, but the bottom line is once you get an opportunity, you gotta run with it.

Ben 19:29

Yeah. Dr. Desai, I, I just wanna say thanks. you know, I'll give some background. Dr. Desai is one of my staff attendings and I can attest to, he wears many hats, and he does what he does very well. One thing I wanted to ask is, when, when we look at history alone and now that you've seen so many different manifestations of HCM, both clinically and in the research realm, you know, what are the things based on, on history alone that per your ears up to a possible HCM diagnosis. And I'll just add that, you know, oftentimes at the Cleveland clinic, we, we get patients who are here referred sometimes already with a diagnosis or a diagnosis in question, but seeing all. Do you have any clinical pearls that can, that kind of perk your ears up, that, Hey, this, we might be dealing with the patient

Dr Desai 20:14

with HCM. Yeah. Thank you so much. But before I answer that question, I'm gonna take it a little bit upstream. so right now, there is about a hundred thousand HCM patients known in United States, but the prevalence is thought to be one in 500. Maybe somebody says one in 200. So that means there's about 700,000 patients walking around with potential HCM essentially means 85% patients with the HCM are either underdiagnosed, undiagnosed, or misdiagnosed. so keep that in context and I will tell you the three most common diagnoses before a diagnosis of HCM is made. Are you have a benign murmur? You have asthma, or you are crazy. These are the three most common things before a correct diagnosis is made. Having said that, what are some of the key factors? So of course, a young person presenting with symptoms. What could they be? It could be DYS exertion. So. somebody said I had a murmur all along and I was never able to keep up with sports. as I was growing up or I was always told I should not play sports. that perks up my ears or exertional dizziness. Some people may present with syncopy unexplained sympathy. So you hear about all these college student athletes who die on a or who have a cardiac arrest, playing sports. Angina is a common presentation sometimes. the only way you make a diagnosis is somebody, one of their family members gets, diagnosed, and then you, you screen first degree relatives and you do cascade screening, and then you end up identifying the problem in, in one of your patients. Or they may be genotype positive phenotype negative. Now that we are doing a lot of gene testing, the other occasional scenario is people may get diagnosed. With a pheno copy. So, they may be told, oh, you are hypertensive. And this is just manifestation of hypertensive, heart disease, more and more, especially in elderly folks, We are identifying people who have been told they may have amyloid and they are HCM and vice versa. So, so essentially at the end of the day, what matters is effective and good history taking.

Kanny 22:40

Yeah. And I would say that I, I feel like some of the underdiagnosis occurs more commonly in middle Asian elderly patients where maybe they have an echocardiogram show, increased wall thickness, and we attribute it to hypertensive disease. but we're kind of reluctant to give them that label of HCM, from echo findings alone, even though they can sometimes be very characteristic. So

Dr Desai 23:01

remember, one thing, an important. Is, if you look at most of the HCM databases that are published, from which the data is published the mean age is about 50, 60 in that ballpark. So what does that tell you is, I mean, HCM is ostensibly a genetic disease. So it has taken this long to, to come to a fruition of a diagnosis. So that is something that needs to be kept in, context. And to your point, you know, it's that overt ACM patient with systolic AMO and all that, that's easy to diagnose it's the, the harder ones are, that appear to be mild. So, you know, there's something to be said about, you cannot. I mean, you don't wanna over diagnose somebody because you are, you are messing up with their life and their recommendations of sports and genetics and all that at the same time, you should also not under diagnose because you are giving somebody a false sense of security.

Ben 23:59

You know, Dr. Desai, I just wanna say, after reading echo with you, that's, that's a big question that as fellows we see, not every thick heart is HCM and, and using not only the echo phenotypical, features such as. Just all anterior motion, et cetera, but also age, I don't know if you're 85 year old with hypertension who has thick walls is gonna meet those, those characteristics. But that's a discerning eye that, that in order to catch the ones that need to be caught and appropriately raise alarm, when you see someone who's inappropriately having thick walls. So that, that was an important Pearl.

Dr Desai 24:32

And the other thing, important thing, and you, you know, Ben, you read enough echo with us, or hopefully, you know, you've been paying attention. I have. Yeah. So there's, it's not all, not all thick. And I put this in my slides, although not all thick walls are HCM and not all HC istic walls. One of the earliest research observations I made was. A lot of outflow tract obstruction, et cetera, is in patients with no significant basal sepal hypertrophy. So we started looking and then we stumbled upon the phenotype of obstructive ACM without the H so papillary muscles, and mitral valve and the interplay of anatomy in the subvalue or APAR. So. This is, it is a complicated endeavor to make a diagnosis, but, you know, once you go the full distance of testing, then it becomes relatively easy.

Kanny 25:29

The 2020 guidelines for HCM management, were released a couple of years ago. I think they really advanced. Our, practice and understanding I think all clinicians understand the role of echo in the initial diagnosis and some of the classic features. we also understand CVM R is really emerging now as a much more refined. Tool to look for fibrosis, confirm hypertrophy. I'm just curious in your practice, in a, in a big referral center, do you consider CVM R a frontline test in any patient who has a diagnosis at this point? Or is it still a test that can be reserved for, confusing initial cases or in a subset of patients where you need more information about risk stratification.

Dr Desai 26:13

So couple of things, there were a few things that, were packaged in that question. So. EV every HCM patient should have a high quality echo with all the bells and whistles, meaning pro provocation testing, Valsalva gradient measurements, strain measurements. We also Doel nitrate, to provoke. Patients if the patients are not that symptomatic or symptoms are not convincing enough, then we also offer stress echo, with looking for gradients, et cetera. Now having said so, so the first line diagnostic modality should always be echo, having said that CMR does have a, a very important adjunctive role and at the Cleveland clinic, Since 2005, we've offered CMR to every patient, that comes with a diagnosis of HCM. The reason is we always recognize the incremental value, not just for precision of wall thickness measurement, but also like you alluded to, quantification identification and quantification of myocardial fibrosis. And as you may or may not be aware, we published data, which has shown. That, quantification of, myocardial fibrosis in the setting of HCM provides incremental prognostic value. In addition to all the other things. So the guidelines do reflect, risk stratification, using CMR as, as an adjunctive tool. So we definitely offer it to everybody. The other thing we also started, you know, my recognition of all these papillary muscle. abnormalities was first made on CMR. I mean, it was not clearly apparent before when we started looking more and more CMR that's when we started identifying these. And then we went and looked back at the echo and now life has come a full circle for me, where I recognize most of my such atypical abnormalities. First on echo and our sonographers have gotten very good at pointing it out. when 10, 15 years ago. they were missing those things or they were not recognizing those things. So, so, you know, it's not this or that imaging. It is at the end of the day, what matters is how you take care of your patient. The patient should be at the center of everything, and then use whatever tool you have at your disposal. To, to create a, an imaging plan to help you create a management plan. One last thing I'm gonna say about the guidelines. You mentioned the guidelines. it is important for folks to who are listening on this call to understand guidelines are there to guide you. Take care of the patient when it comes to HCM guide. You have to remember. I mean, and everybody is fed on a diet of class one class, two class, three guidelines, et cetera. But in ACM, if you look at every guideline. indication. There's not one that is based on prospective multicenter, randomized controlled data, everything is observational or con consensus opinion. So when you are looking at the guidelines, you always have to be cognizant of that, especially in, in the day and age like today, where we have lots of prospective multicenter trials available.

Ben 29:41

And Dr. Desai, I think that's a, that's a great point. And just to put in a plug, those guidelines came out, I think about two years ago, but in February of 2022, I know you co-authored, a Jack review series, on HCM and diagnosis and management. And, and I think that has a lot of great information and it just for the listeners.

Kanny 30:01

We are gonna take a break now and wrap up part one of our interview with Dr. Desai. We'll be back in a few weeks with the remainder of our interview. I'd like to, again, thank my co-host Ben Allen cherry Ben. Thank you. Thanks a lot, Dr. Greenwell for the opportunity.

Ben 30:16

It was a pleasure.

30:18

Thank you for joining today's podcast. For more information about the speakers or the topics, please go to Ohio acc.org,