Dr. Diala Steitieh, a cardiologist at NewYork-Presbyterian and Weill Cornell Medicine, outlines an innovative approach to treating patients with hypertrophic cardiomyopathy, the most common genetic heart disorder. As director of the Hypertrophic Cardiomyopathy Program , she’s implementing precise diagnostic tools and promoting new standards that aim to improve patient’s quality of life for those living with the condition.
On this episode of Advances in Care, host Erin Welsh and cardiologist Dr. Diala Steitieh discuss the current landscape of care for hypertrophic cardiomyopathy — or HCM — the most common genetic heart disorder. Dr. Steitieh outlines the advantages of genetic screenings for patients who have HCM, along with the symptoms and risks if the condition is left undiagnosed or unmanaged.
She expands on the importance of understanding obstructive vs. non-obstructive conditions and the importance of making a precise diagnosis to get a clear sense of each patient’s severity. Dr. Steitieh and her team recently implemented a new approach to their diagnostic imaging protocol called goal-directed Valsalva. With this emerging tool in the landscape of cardiology, they are able to get a better sense of an obstruction impacting blood flow, and ultimately offer a wider variety of treatment options.
Beyond diagnosis, Dr. Steitieh also shares her excitement about updates to the management of HCM, including recently approved drugs and new guidelines regarding sports & exercise. She and her team at Weill Cornell Medicine are in the process of becoming a designated Hypertrophic Cardiomyopathy Association Center of Excellence, a development that Dr. Steitieh hopes will improve access to care for patients in New York and beyond.
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Dr. Diala Steitieh is an Assistant Professor of Clinical Medicine, and the Director of the Hypertrophic Cardiomyopathy program in the Division of Cardiology at Weill Cornell Medical College and New York Presbyterian Hospital. She has a background in sports cardiology and also cares for patients with a wide array of cardiovascular diseases, including coronary disease and valvular heart disease. Dr. Steitieh also serves as an attending physician on the inpatient services at NewYork-Presbyterian Hospital, including the intensive care unit and cardiac units.
For more information visit nyp.org/Advances
Dr. Diala Steitieh: Hypertrophic cardiomyopathy is the number one cause of sudden death in young adults.
Erin: This is cardiologist Dr. Diala Steitieh. She treats patients with hypertrophic cardiomyopathy, or HCM – an unfortunately common condition in which the heart muscle becomes thickened and can obstruct blood flow.
Given the severity of the disease, developing an accurate diagnosis and treatment plan is crucial. To do that, cardiologists need to get a clear picture of the heart, to see how severe an obstruction is, which isn't always easy with traditional imaging techniques.
Dr. Diala Steitieh: Initially when we're looking for obstruction, you'll have a patient at rest. You'll get an echocardiogram with them just laying down and you'll see if there's an obstruction. But oftentimes at rest you may not trigger an obstruction. But the patient's telling you, I feel really short of breath anytime I'm walking around.
Erin: An echocardiogram with a patient at rest can sometimes obscure the obstruction, which prevents the patient from receiving life-saving treatment options. To improve the rate of accurate diagnoses, Dr. Steitieh and her team are implementing a new imaging protocol called Goal Directed Valsalva. The patient performs the Valsalva breathing technique, which changes the way that blood fills the heart and makes obstructions easier to see.
Dr. Stietieh: I can actually get you to that point where I can take better images. And so now the conclusion is, oh, you know what? You do have a massive obstruction, actually.
Erin: Goal Directed Valsalva is an emerging diagnostic tool for HCM, and it’s not widely used yet. But Dr. Steitieh and her team are leading the field in implementation and training. They’re also on a path to joining Columbia as an HCM Center of Excellence, becoming one of only 40 in the country.
I'm Erin Welsh and this is Advances in Care, a podcast about groundbreaking developments in modern medicine.
In this episode, I talk to Dr. Diala Steitieh, a cardiologist at NewYork-Presbyterian and Weill Cornell Medicine and Director of the Hypertrophic Cardiomyopathy Program, about the current landscape of care for HCM, and how she's promoting new standards for diagnosis and treatment.
Erin: Dr. Steitieh, thank you so much for joining me today.
Dr. Diala Steitieh: Thank you for having me. I'm very excited to be here.
Erin: So to start us off, let's get the basics of HCM. Can you give me a brief overview of the prevalence of this disease, you know, who it affects, and what exactly is happening in these patients’ hearts?
Dr. Diala Steitieh: Yeah. You know, when we think of hypertrophic cardiomyopathy, it is the most common genetic disorder of the heart. The prevalence is estimated to be between one and 200 to one in 500 people who are impacted by it. Within cardiology, sometimes when you think of cardiac disease, you might think of older folks, but something like hypertrophic cardiomyopathy heavily impacts younger folks.
And we know that it is a genetic disease. From a, kind of, genetic basis, you end up having increased thickness of the heart muscle. In most people, that's about 1.5 centimeters. And so you make the diagnosis and then from there, because of that thickening, you can have a multitude of different things that happen.
Erin: Yeah, what are some of the riskiest outcomes for someone who is living with this and not knowing that they have it?
Dr. Diala Steitieh: When we talk about risk, I think really the big thing that you don't wanna miss is sudden death. Not everyone in HCM is at high risk for it, but if you don't know, haven't been diagnosed and therefore haven't undergone the evaluation to figure out what is your risk of sudden death, that's really the big thing that we all worry about.
Erin: Right, of course. So I’m curious about how you provide this life-saving care to your patients. Tell me about your program at NewYorkPresbyterian and Weill Cornell Medicine. Who is on your team and what makes it unique?
Dr. Diala Steitieh: We are a large team because it's a very multidisciplinary disease, hypertrophic cardiomyopathy, we do have a lot of different folks who are a part of the center. If you have advanced heart failure, we have an advanced heart failure specialist who focuses on HCM with advanced heart failure. If you need surgery for your heart, then we have a cardiothoracic surgeon who's part of that center. We also have an electrophysiologist, in case you need procedures related to abnormal heart rhythms. We also have a go-to physician who's part of the catheterization lab who can do our diagnostic procedures, and a geneticist, and a pediatrician and some nurse practitioners in there as well.
Erin: Yeah, that is quite multidisciplinary… which I imagine helps you ensure that you’re giving each patient, you know, very personal, comprehensive care plans. And to have a geneticist in particular seems like it would be a big advantage since this is often a genetic disease. So I’m wondering how much do these genes determine the way this condition manifests for patients. Does the thickening of their heart muscle wall change over time or is it based on what allele they have?
Dr. Diala Steitieh: So whatever allele you have is the one that you have for HCM. However, there is, you know, vast majority of cases, progressive thickening over your lifespan. Different people will plateau at different ages. But yeah, you do kind of tend to thicken over time.
Erin: And what is its inheritance pattern?
Dr. Diala Steitieh: Autosomal dominant. And so if you are diagnosed with hypertrophic cardiomyopathy, you have about a 50% chance of passing it on to your kids. And if you have it, presumably from your parents, your siblings should also therefore be screened, 'cause they would've had a chance of getting that same allele from their shared parents.
Erin: Right, so it sounds like genetic testing can be really beneficial because if you find that specific gene, then you can detect the disease in the rest of the family.
Dr. Diala Steitieh: Yeah, especially if you have, let's say, three, four kids and you have these siblings and they have kids. We have cases where, you know, let's say unfortunately a family member has passed away, and you actually find, okay, there's two or three of the kids ages 10, 11, 13, who actually have the disease that didn't develop symptoms yet. So that's kind of one way that you can capture patients early.
And the other way is symptoms. You know, there are people even at very young ages who can develop symptoms. From my perspective as an adult cardiologist, I'll, you know, see them 18 and beyond. But certainly when I diagnose an adult with HCM, whether they're in their thirties, forties, fifties, one of the very first questions is, do you have kids? How old are they? And let's get them seen by a pediatric cardiologist to screen for that disease.
Erin: Right, and of course the risks of not catching it are so severe. So I know that once you’ve made the diagnosis of HCM, you have to determine if they have obstructive HCM or non-obstructive HCM. Can you help me understand the difference between these two types?
Dr. Diala Steitieh: Yeah, great question. So if you actually do have an obstruction of flow and blood leaving the heart, then that puts you in the obstructive category. And the non-obstructive essentially is saying that blood can exit the heart without an obstruction. However, these people still have very thick walls. They still have elevated pressures within the heart. And so therefore they can still have symptoms. It's just that the pathophysiology is slightly different.
And initially when we're looking for obstruction, you'll have a patient at rest. You'll get an echocardiogram with them just laying down and you'll see if there's an obstruction. But oftentimes at rest you may not trigger an obstruction. But the patient's telling you, I feel really short of breath anytime I'm walking around. And so the question becomes, how does their heart deal with activity, deal with changes in filling, et cetera, and do they actually mount a response or an obstruction to those types of triggers?
Erin: Right, if you’re not triggering an obstruction during an echo then you could miss it, potentially. And I know that’s part of the aim of this new diagnostic tool, Goal Directed Valsalva, to improve visibility of those obstructions. Tell me about this development and what you’ve seen since you and your team have implemented it?
Dr. Diala Steitieh: Yeah so, it's not formally part of the guidelines yet in terms of like the formal recommendation to do this.
But I will say since we've been using a protocol like this over the last few months, there's been many examples where we're able to pick up much higher gradients for patients. So I would say it's a really exciting kind of development.
Erin: Yeah, I mean, a big step forward to be able to offer this novel sort of test that not all centers have yet. So, how exactly does it work?
Dr. Diala Steitieh: So the idea of Goal Directed Valsalva is you have them kind of blow into this tubing that's connected to a pressure gauge. And you can actually tell them to blow out and hold it to a particular pressure. For the most part, we use 40 millimeters of mercury. So the echo technician, you may ask them to bear down, the patient will bear down, you'll take an image.
Erin: And you're watching a measurement of pressure while the patient is doing the Valsalva breathing technique, blowing into this tube, all while you're taking imaging with an echo?
Dr. Diala Steitieh: Correct. And what’s the whole point of Valsalva is you want to get to the point where when you do a Valsalva maneuver, whether it's bearing down or blowing out, to the point where we wanna trigger an obstruction by decreasing filling to the heart. If you're looking at the gauge, you know exactly what you're seeing. I can actually get you to that point where I'm decreasing your filling and I can take better images.
Erin: Right and so when the filling of blood decreases you can see some of those obstructions that you wouldn’t be able to see with the traditional approach, with the patient at rest – especially patients who up until you had this tool, didn’t appear to have an obstruction.
Dr. Diala Steitieh: Yeah, we just finally were able to capture it with this imaging protocol. And now you have a number of different treatment options that might not have been available to you.
Erin: And if you can get that more accurate diagnosis of obstructive HCM, it’s clear that the patient is facing more serious complications, then they qualify for different treatments... So what are some of the treatment options that you offer patients?
Dr. Diala Steitieh: The main treatments, which include beta blockers, calcium channel blockers, one of the methods in which they help is when we think of hypertrophic cardiomyopathy, not only do you have kind of really thick muscle, but that muscle is kind of working in overdrive. It's squeezing extra hard. And therefore if you squeeze really extra hard, you're also a little more likely to obstruct, 'cause your walls are gonna come closer to one another. And so they'll reduce that excessive contractility of the heart and therefore allow for, you know, a little bit easier flow exiting the heart. And then there are newer medications, primarily an actin myosin crossbridge inhibitor. The FDA approval came out not too long ago. So different mechanism. It also helps with reducing that excessive contractility, but it even kind of targets the underlying reason for that thickening as well.
Erin: So this is an entirely new treatment option for patients who have that obstructive HCM diagnosis. Do you see that potentially being used to treat individuals that have non-obstructive HCM, who don’t have quite as many treatment options?
Dr. Diala Steitieh: Yeah, there's a lot of trials going on at the moment trying to answer that exact question. Unfortunately, present day, we can't quite use it for non-obstructive. But hopefully very, very soon that'll change.
Erin: I mean, that seems like it would not only prevent adverse events but also open up a lot more doors for people.
Dr. Diala Steitieh: A hundred percent because when you look at the rates of obstructive versus non-obstructive, two thirds are obstructive, one third aren't. I have to say from clinical practice, it feels a little more like 50/50. But even, you know, let's say the lowest statistic of a third are non-obstructive, that's, you know, a third of patients who may not have good treatment options available to them today.
Erin: It sounds like the accuracy of this new Valsalva technique – because you’re diagnosing people whose obstructions were previously missed – is really what's allowing more patients access to those treatments. Can you talk about any success stories you've seen so far, now that you can better identify these obstructions?
Dr. Diala Steitieh: Yes. One just recent patient, you know, always been non-obstructive on a certain medication that wasn't really doing it for her. I kind of just met her saying, yeah, you know, I'm used to these symptoms. These are the symptoms I have. I've had them for years, you know. I've maxed out on my medical therapy. And that was kind of it. And I remember she was one of the first folks we initially did Goal Directed Valsalva for, and it made a massive difference 'cause we did find that she was indeed obstructive. It opened her up to that kind of newer medication that I was talking about. And so that's someone, she's now, you know, one month into therapy, already feeling a difference. And it's a really big, big achievement I think.
Erin: Yeah, that’s amazing. I’m curious to hear more about how you see the future of treating this condition. Are there any new developments in HCM care that you’re excited about?
Dr. Diala Steitieh: Yeah, the sports recommendations. The recommendation was no sports. Like you have hypertrophic cardiomyopathy, you know, quit any sports. And so if you imagine people diagnosed in their twenties, thirties, forties, telling them, okay, the rest of your life you can't really do sports. Leisurely walking is okay, but you know, don't do much more beyond that is absolutely life changing in the worst way.
And even as you're older, frankly, like everyone wants to be active. And so if you maybe aren't as familiar with the newer guidelines, there's a good chance you're probably saying something like that to your patients. But the data, especially over the last few years that has been coming out with regards to sports has been so much more reassuring than we realized.
There was a trial that looked at people who were active, including people with vigorous activity, division one athletes, who had the same outcomes as people who were sitting on their couch the whole day.
There are still some patients with hypertrophic cardiomyopathy who are truly high risk
but I have to say that is a very small subset of hypertrophic cardiomyopathy. And so, for the most part, unless you're a very high risk patient, we know that you can, you know, probably partake in sports. So that's a really big exciting change where if you were diagnosed maybe even 10 years ago, you were probably receiving very different advice.
Erin: I mean it seems really significant that you're able to give patients this kind of guidance on new developments in the field, through your center at NewYork-Presbyterian and Weill Cornell Medicine. And I know that you're in the process of applying to become a center of excellence in hypertrophic cardiomyopathy. What does that mean exactly?
Dr. Diala Steitieh: That's a great question. You know, being a center of excellence, you are a name that can be kind of shared with these patients who are seeking care, who might be living close to us, who need a center of excellence nearby them.
Within the US there's about 40 centers of excellence. And within New York City, there's two. When you think about the number of patients with HCM, 1 in 200 to one in 500, that is a very small number of centers.
I will say I think it also puts kind of the onus on you to really be even more cutting edge maybe in the research that you're participating in to even something as simple as train your echo technicians more extensively.
The biggest and simplest goal of the program is to be able to offer some expert opinion to these patients, especially if they maybe have a particularly challenging case so that we're able to offer that care for anyone within, generally speaking like New York, but you know, obviously within the Weill Cornell system and beyond.
Erin: Yeah, I mean between leaps in diagnostic protocols and thorough genetic testing, it sounds like you’re positioned to make big impacts in your field.
And – just as important – in detecting HCM in those who have those subtle signs and symptoms, and catching the disease early in their family members, which can save so many lives.
So, Dr. Steitieh, I really appreciate you taking the time to share all of these insights with me today.
Dr. Diala Steitieh: Thank you for having me, Erin. And I hope everyone listening leaves this a little more informed about hypertrophic cardiomyopathy and what our program has to offer.
Erin: Huge thanks to Dr. Diala Steitieh for taking the time to speak with me about hypertrophic cardiomyopathy and how she's promoting new standards of diagnosis and care.
I'm Erin Welsh.
Advances in Care is a production of NewYork-Presbyterian Hospital. As a reminder, the views shared on this podcast solely reflect the expertise and experience of our guests. To listen to more episodes of Advances in Care, be sure to follow and subscribe on Apple Podcasts, Spotify, or wherever you get your podcasts. To learn more about the latest medical innovations from the pioneering physicians at NewYork-Presbyterian, go to nyp.org/advances.