Transcription:

Melanie: Welcome to UAB MedCast. I'm Melanie Cole. And today, we're discussing the evaluation and management of hypertrophic cardiomyopathy at UAB Medicine, including medical management, catheter-based therapies and surgical strategies. Joining me in this physician round table is Dr. James Davies, Jr, he's a professor, Division Director in Cardiothoracic Surgery; Dr. Mustafa Ahmed, he's an associate professor and the Section Chief in Interventional Cardiology; and Dr. Riem Hawi, she's a cardiologist and an assistant professor, and they're all at UAB Medicine.

Doctors, thank you so much for joining us today. And Dr. Hawi, I'd like to start with you. Of the heritable heart diseases that involve structural changes in heart muscle, can you tell other providers about the difference between familial dilated and hypertrophic cardiomyopathies?

Dr. Riem Hawi: Well, Melanie, I'm really glad we're talking about this because hypertrophic cardiomyopathy is really having a moment in the medical world. So, I'd say that, you know, HOCM or HCM as it's called now is the most common genetic cardiac disorder that we see, and we're probably only seeing the tip of the iceberg. And it's also the most common reason for sudden cardiac death in the young population.

So the hallmark of this versus the familial dilated cardiomyopathy is really the very thick left ventricle. And, you know, traditionally, we were always thinking that it was like that, you know, basal septum that was thick and that was more of a localized thing. But we do know now a lot more about it and really it can affect any segment off the left ventricle. And it's literally that, you know, very hypertrophied left ventricle that's the hallmark of it all.

Melanie: So then Dr. Hawi, which physical findings are characteristic? So you mentioned the left ventricle. Can you tell other providers maybe even pediatricians that are working with these kids, what might signal a visit to the cardiologist?

Dr. Riem Hawi: So hypertrophic cardiomyopathy is actually very interesting because the initial markers, you know, that may raise your suspicion to diagnosis are very generic. So it could be as simple as a systolic murmur on a physical exam or just, you know, dyspnea on exertion. A lot of times these patients actually end up being misdiagnosed with asthma, and that's how they end up in the cardiology clinic.

Now, the definitely most, you know, fatal sign is syncope or cardiac arrest. And that's kind of what really makes it into the news when like, you know, a competitive athlete kind of collapses in the basketball court. But you know, other things that, you know, primary care providers could look out for is an abnormal EKG. And then certainly, you know, like a positive genetic test in a family member are things that should raise your clinical suspicion for that.

Melanie: Dr. Ahmed, tell us about any advances in radiologic imaging that really have augmented your diagnostic and therapeutic capabilities for hypertrophic cardiomyopathy. Speak about anything that's changed the landscape for you that you want other providers to know about?

Dr. Mustafa Ahmed: You know, I think the key here is to point out there's no single test, which is going to give you all the information needed. The key is to have all the tests available to make the different components of the diagnosis. And I'll give you some examples of that. The normal first way that this is going to be picked up is often maybe a murmur for the classic type of cardiomyopathy with those symptoms. And that would often lead to something called an echocardiogram. And that's an ultrasound scan of the heart.

And, you know, this field has advanced a lot. There's now advanced 3D type imaging. But ultimately, what it tells us is that the certain parts of the heart tissue are thick, sometimes the whole heart, sometimes just isolated areas. And we can take measurements with that also, which tell you that there's an obstruction. So that thick bits of tissue is often so thick that it gets in the way of the blood trying to leave the heart and puts the heart under more stress. So echo is where it starts. And going further than that, often some of the valves may be involved in that leads to a more advanced echo called a transesophageal echo, which is a echocardiogram, which is done by inserting a small probe down the esophagus where you can be close to the heart. And, you know, that field has advanced also with 3D imaging. And that tells us is the valve involved, how many levels of obstruction there are and adds further information.

And on top of that, we then go to modalities such as MRI scanning and CT scanning. Some places use CT scanning to maybe plan certain procedures of heart thickness and various components of the heart cycle, and even can look at the arteries, which is supplying the heart. And then MRI scan is excellent because it tells you the different areas of thickening, but then it also can tell you areas of potential scar and allows you to make very detailed measurements, which can be tracked over time. Because for many patients, we're going to be watching over time to see if there's changes. But also that accurate information is important because based on the function and the thickness of the tissue, we may need to get other specialists involved for treatments such as pacemakers and defibrillators. So those are the main imaging modalities used.

And then heart catheterization, which is another one to add on there is a diagnostic type test done where some small tubes are placed into the heart and can look at the arteries, but also make pressure measurements across the valve of the heart, where the thickness of tissue is beneath and help make the diagnosis also.

Melanie: Well, thank you for that. So I'm going to give you each a chance to discuss your portion of this as far as medical management, catheter-based therapies and surgical treatments and strategies. So Dr. Hawi, why don't you start with what's involved in medical management and the goals of your treatments?

Dr. Riem Hawi: So I think the goal of treatment is probably the easiest to start with because it's a highly treatable condition. And the goal of treatment is really symptom relief and, with that, like a good quality of life. So if we understand the patient correctly and understand which type of HCM we're dealing with. We can actually tailor the therapies appropriately.

So it all starts really very simple with lifestyle modifications, and most of the time that includes like hydration and some exercise modification. And then, you know, we move on to like pharmacologic treatment depending again on the patient's underlying pathophysiology. So let's say the patient has a really high outflow tract gradient that we discovered during the testing that Dr. Ahmed just went over, well, you know, in that case, you know, we really want to ultimately bring that gradient down. But it's not the number that we're treating, it's really how the patient is feeling and what his overall, you know, functional capacity really is. And it starts like usually with beta blockers and then calcium channel blockers. And if those are not very effective in, you know, relieving symptoms, then we go to things like disopyramide.

Now, I think it's a good time to kind of mention mavacamten, which is going to be a new drug in our armamentarium that's FDA approved and will be hopefully available in January of next year, which kind of is a new class of medication that hopefully comes with a lot of promises based on the recent randomized control trial, the Explorer HCM.

If all of these, you know, are like implemented on the patient and he's still symptomatic, that was where we would move on to invasive strategies where, you know, Dr. Ahmed and Dr. Davies are probably the experts to talk about.

Melanie: Dr. Ahmad, why don't you take it from there and speak about the catheter-based therapies that might come next in this treatment?

Dr. Mustafa Ahmed: Sure. I'm going to kind of break this up a little bit. And so for the first part, Dr. Hawi just mentioned many exciting and new treatments, the components of seeing a patient, many of the patients we see come from other cardiologists. And the reason they are sent is one is treatment. The second is risk. What these people that have this want to know is, firstly, "If I feel bad, can I feel better?" And many of the treatments we just mentioned are associated with improving quality of life and symptoms.

The next thing is, "Am I at risk? What's going to happen? How do we reduce that?" So much of the process, and Dr. Davies, and I'm working very closely with him, and you'll hear from him shortly. Many of the patients who were sent, firstly, we're doing, you know, we're taking a step backwards. It's not that a patient is sent for treatment necessarily or an operation or a catheter-based approach, really they're sent for a full evaluation. Well, the doctors, for example, the three of us on here would get together and discuss. And often an electrophysiologist and genetics and many components to say, "Okay, does this patient need a pacemaker or defibrillator to reduce that risk? Does that patient need to modify their activity? Do we need to do exercise testing to see how much activity that patient can do before we tell them whether they can go to a gym or not?" And much of the process involved is what we call risk stratification.

And so then we'll move on to the next bit, which is the treatment, and I'll tell you, since I've worked at UAB, it's been incredible to work with someone like Dr. Davies and here's why, very rarely do you have a center where you have people that specialize in very complex operations to provide a treatment. And why is that so important? Because when we talk about cathethers, when we talk about medicines and we talk about treatments, really what you want to do is not provide an option for a patient, which says, "Hey, this is what I do. So let me talk to you about it." Really, what you want to say is, "This is what you need. Let me get you to the person that does this the best."

And so when we see a patient, there's no patient I see at all which Dr. Davies will not see when it comes to a hypertrophic cardiomyopathy treatment plan. And many times I'll talk to Dr. Davies about patients sent to him and really, it's, "Okay. What's best for this patient? Is it a 90-year-old or an 80-year-old where we may not want to operate, and then use of alcohol or catheter base." And then it's the options such as surgical and, you know, I'll kind of hand over to that surgical bit and I'm happy to touch on the catheter bits afterwards.

Melanie: So Dr. Davies, we didn't forget about you. Why don't you tell other providers what you'd like them to know about surgical treatment, strategies and any technical considerations you'd like to share?

Dr. James Davies: So I think that surgical management of hypertrophic cardiomyopathy, which is normally with a surgical myectomy, which is basically removing or resecting a portion of the muscle specifically at the base of the heart that's right under the aortic valve. It's a standard open-heart procedure. It's been done very successfully in many centers and we do quite a bit of it. And I think the patients in general, the right patients for the procedure, have a great benefit from it. And I think both, all three of us are saying that the same thing is that having a team approach to really make sure that each patient is individualized and each patient gets the proper treatment for whichever their specific portion needs to be whether it's medical therapy, whether it's a catheter-based therapy, surgical therapy, whether it's simply a defibrillator, other issues and other teams that we can help manage these patients appropriately.

So the surgical management, once they get to me, I do think that the patients that we look at and really see that they have a significant and appropriate anatomy that they do very well from the surgical treatment, Dr. Ahmed and myself worked very closely together to see these patients because catheter-based and surgical treatment can both be used in a similar group of patients. And some patients, one is better than the other. And that's why we try to work very well together to make sure the surgical outcomes and catheter-based outcomes are very good. The risk of having any significant complications are very small. They're well below the 1% to 2% range. And it's something that we think that these patients that can really get better.

From a surgical standpoint, I can tell you that probably this is the one group of patients that after I operate on them, when they're in the hospital still, that they actually feel better and tell me they feel better right then walking in the halls, even before they go home. Those other patients are still recovering from the surgery, but this group of patients actually feels better almost immediately in most cases.

But I think the most important thing that we would all say is to get to the place that has a really good team approach and that you get a full evaluation to make sure you get the appropriate therapy for that individual patient, not just the appropriate therapy for whatever individual person or individual practitioner does.

Melanie: So Dr. Davies, just for a second, I'd love for you to expand for a minute about this multidisciplinary approach to let other providers know what they can expect when they're referring patients to the center at UAB Medicine, how do you all work together and what other providers are involved?

Dr. James Davies: So a lot of times, obviously most of the referrals that we get are directly from cardiologists, but they can be from general practitioners or internal medicine as well. And they get referred and they are seen. Very commonly, Dr. Ahmed and myself work together. Dr. Hawi also sees a group of patients with this as well. And a large number of these patients probably never make it to Dr. Ahmed and myself initially, because they're so well medically managed. But once as we go on and we see how these patients are developing or how their symptoms are developing, you have the three of us looking at them to see what's the best therapy.

Other groups as Dr. Ahmed said are genetics and cardiac genetics. We're looking at that and having the patients seen, because it's not only important for that patient, but it may be important for their family and familial areas to look at other family members. And then the other group that probably we work the most with, besides the ones on this call and genetics, are the electrophysiologists that can help with either the rhythm using as a pacemaker or defibrillator in certain sense to try to prevent sudden death in this group of patients, because this is one of the groups of patients, especially in young athletes that you can see sudden death.

Melanie: Certainly, that's a really important topic. We could do a whole show just on sudden death in athletes, sudden cardiac death. So I'd like to give you each a chance for a final thought. And Dr. Ahmed, I'd like to start with you. What would you like other providers to take away from the program at UAB Medicine? Any catheter-based therapies or strategies that you would like to share?

Dr. Mustafa Ahmed: No, I think I'd just like to double down on what's being said. The key to hypertrophic cardiomyopathy management is a multidisciplinary team. The management is so much more improved. The outcomes are so much more accountable and watched, and there really is a team approach into making sure that patient comes in, the correct diagnosis is made, the correct medical management is applied, the appropriateness of timing for any procedure required after that, the risk the patient has can be attenuated through careful evaluation and management. And then when the procedures are done, that those procedures are done by people that really do that procedure a lot, have technical expertise in terms of obtaining the best outcomes. And then after that, taking responsibility and accountability for following the patients up, making sure they do well. And you know, communicating back with the doctors that have to look after them back on the ground in their communities. And, you know, we have very good relationships with people that send patients in, not just, "Hey, we're going to take a patient and you're never going to hear us from us again, and we're going to do an operation." But really just how can we be of help and really helping take a complex problem, applying a team approach and then, you know, delivering people back, but also being accountable for followup in the future.

And the reason followup and team and an interest in this is as with any field, we're learning something new every year. So it's nice to be at the cutting edge where if a new treatment is found, if a new reason to follow someone up, if a new operative technique. And I'll give you an example of that. Years ago, when we started doing this with the alcohol ablation, 3 or 4 cc of, you know, denatured alcohol we use. And what we've learned over the years is using just a fraction of that, often half a cc to one cc to maybe one and a half, we can get equivalent results by doing that. And that's something you learn by really taking an academic team approach to this. And same with the operation, same with how the mitral valve is handled in an operation. There's difference between someone just replacing a mitral valve and there's a difference between someone resecting the tissue, taking care of the valve and looking at the long-term outcomes of that. So really that's what I'd like to get across.

Melanie: I'm so glad you brought up follow-up Dr. Ahmed, because that was going to be the question that I was going to ask and how important that was. So thank you for that. Dr. Davies, next final thought to you, what would you like to summarize? And what would you like providers to take away from this episode on this team approach that you're all using, maybe any clinical indications when you come into the picture?

Dr. James Davies: No, I think it's more of the team approach as Dr. Ahmed and Dr. Hawi have said that we try to be available and we try to be responsive to see patients in a very timely manner. You know, these group of patients or patients a lot of times that have been suffering or been symptomatic for quite some time. And so we try to see them as a team and try to also as they travel to UAB, that if they travel from distance, we also try to see them in a way that makes it easy for them and makes it quick for them and for their families as well. And that we consider, they get to see several different experts in the field to really get all the options and to be able to pick the exact option that's probably the best for that patient at that time.

Melanie: And Dr. Hawi, last word to you. Please let other providers know when you think based on things that they found, whether they're in the medical home, when you feel it's the best time that they refer to the specialists at UAB Medicine and what you would like them to know about anything in the future that you see, anything in the horizon for hypertrophic cardiomyopathy?

Dr. Riem Hawi: So I do think that a lot of it already has been said, but I would like to just kind of also take a step back and just raise awareness for this disease. This is a very unique patient population. It's very complex in of itself. But if you have a patient that you think you've really treated well for asthma and has this weird murmur on exam, you know, have a low threshold to get an echocardiogram and to think about HOCM or hypertrophic cardiomyopathy. And then, you know, if there is any suspicion at all, then go ahead and refer them to the next level up, whether that's the cardiologists or if that happened at the cardiologist's office, you know, send them to like a multi-team center like UAB is.

I think it's important to understand that there's really no one-size-fits-all in these patients. So the purpose of sending them to like multicenter of excellence is really to understand that particular patient. And that's really where this team approach comes to play. It's very unique in a way or like hypertrophic cardiomyopathy is very unique in a way that it spans over all the subspecialties within cardiology. I mean, we've talked about, you know, the interventional, the surgical aspect, the medical aspect. You know, Dr. Davies touched base on electrophysiology and a lot of our electrophysiologists come in when it really comes to, you know, addressing high-risk patient populations with either like a pacemaker or defibrillator, if they need one. So, you know, all these pieces of the puzzle are really very important to understand that patient and then the treatment plan or the treatment strategy will be tailored to each individual patient. So, I do think though, it all starts with your clinical gut feeling and your suspicion, think about HCM.

We actually have data that suggests that currently there is about a 100,000 cases in the United States that, you know, patients that actually carry the diagnosis. But, you know, if you look at estimates of how many truly have the diagnosis, but kind of have gotten unnoticed, that number approaches 750,000. So that tells you, we are only seeing the tip of the iceberg. I think it starts really on the ground with providers, just, you know, having awareness of hypertrophic cardiomyopathy.

Melanie: Well, thank you all so much for joining us today. What an informative episode this was and how it really does span so many specialties. So thank you again. And a physician can refer a patient to UAB Medicine by calling the MIST line at 1-800-UAB-MIST or by visiting our website at uabmedicine.org/physician That concludes this episode of UAB MedCast. Please remember to subscribe, rate and review this podcast and all the other UAB Medicine podcasts. I'm Melanie Cole.