Introduction to Adult Congenital Heart Disease with Dr. Joanna Ghobrial

Podcast Transcript

Dr. Brateanu: 

Welcome to the Medicine Grand Rounders Podcast, a platform dedicated to exploring key topics in internal medicine. Highly relevant to the medical community. This podcast is made possible through the generous support of a grant from the Cleveland Clinic Education Institute. However, the views and opinions expressed here are those of the speakers and do not necessarily reflect the the official position of the Cleveland Clinic. Each episode brings together world class experts and distinguished physicians from Cleveland Clinic to share their knowledge, experience and perspectives on issues that impact healthcare professionals and patient care. Our discussions aim to promote learning, advance professional development and inspire meaningful conversations with the medical community. Today's episode is hosted by Dr. Nitu Kataria, Internal Medicine Physician at the Cleveland Clinic, and me, Dr. Andrei Brateanu also in Internal medicine. We invite you to join us as we delve into today's thought-provoking topic.

Peter Chin:

Hi everybody. I'm Peter Chin. I'm a fourth-year medical student at Case Western Reserve University School of Medicine. It is a great pleasure to introduce our speaker today, Dr. Joanna Ghobrial. Dr. Joanna Ghobrial is the medical and interventional director of the Adult Congenital Heart Disease center (ACHD) and staff cardiologist in the Robert and Suzanne Tomsich Department of Cardiovascular Medicine and the Sydell and Arnold Miller Family Heart, Vascular and Thoracic Institute. She earned her medical degree from Wayne State University in Detroit, Michigan. She completed her internship and residency at Boston Medical Center, followed by a fellowship in cardiovascular medicine at the University of Washington or UW in Seattle, Washington. At the same time, she earned a master's degree in Epidemiology from UW and then went on to complete a fellowship in interventional cardiology at Beth Israel Deaconess Medical Center at Harvard, and a fellowship in adult congenital heart diseases with a subspecialty in intervention at the Ahmanson/UCLA Adult Congenital Heart Disease Center. Dr. Ghobrial's particular interests are in congenital heart defects and valve disease, and she has co-authored numerous publications on congenital heart disease, heart attack and related topics in peer reviewed medical journals. She has contributed chapters on non-surgical cardiac interventions to several cardiology textbooks, and she has presented at medical conferences on the latest techniques for heart valve repair and replacement. 

Dr. Ghobrial, it's a pleasure to have you on the show today. 
Is there anything else you would like to share about yourself?

Dr. Ghobrial:

Thank you, Peter. Now that you've taken, it's taken you like five hours to just kind of go through how many fellowships I've done. One, I feel really old, but, but I will say it takes a lot of passion and really wanting to get into the field of Adult Congenital Heart Disease to get three fellowships back-to-back. So no, thank you. That's a great introduction. 

Peter Chin:

Awesome. Well, again, it's great to have you here. One thing that I find very helpful for educational kind of podcasts like this is to kind of summarize some learning objectives for the content that we'll cover today. 

So today, we'll focus on highlighting the common symptoms and physical exam findings indicative of congenital heart abnormalities, or in the case of patients that have had those repaired or replaced, when those aren't working as well, or if they're starting to fail, or if they've never been optimized. Along those lines, we’ll also characterize the diagnostic workup of such conditions or abnormalities. And then we'll also discuss the management approaches to these situations, and then we'll also discuss the dynamic between surgical and catheter-based interventions to repair these abnormalities as they arise. 

Dr. Ghobrial: 

I love it, so let's do it!

Peter Chin:

Awesome. So, we put together a hypothetical case vignette that kind of summarizes a very classical presentation of something that Dr. Ghobrial sees very frequently. So, we'll go ahead and get started. This will be a 28-year-old man who presents to the clinic, and he's concerned that he can't run as well as he used to. On further history gathering, he says that he got heart surgery when he was young, but he can't explicitly recall for what reason, and he has not seen a doctor in years, and currently takes no medications.

Dr. Ghobrial:

Thank you, Peter. And this first beginning of that vignette is super important for the realm of patients with adult congenital heart disease, because it's so typical, and we see it all the time. If you like, understand the congenital heart disease patients, oftentimes they're it's all happening in when they're pediatric, right, at pediatric age range. So their parents are taking them to the doctor, and then once they turn 18, let's say they go to college, there is this big transition where they either are able to kind of okay, I do need to see a doctor regularly, but a lot of them, one may not have insurance, may not know that they need to see a doctor regularly, and are usually lost to follow up. This is like a big problem in ACHD, is patients being lost to follow up and not knowing that they have to be regularly seen. Also, there is this false conception that, well, I got surgery and I'm fixed. And the thing is, it's, it's most of the time in palliation, it is never fixed and done. It's the patient group needs to be followed for the rest of their life. ACHD now is essentially a chronic disease that needs to be followed long term. So, this is a very typical beginning of that vignette.

Peter Chin:

And yes, I have also seen like, as you were just saying earlier, this is oftentimes it's more a palliation as opposed to curative. 

Dr. Ghobrial: 

Very true. Yeah. 

Peter Chin:

Definitely underscores the importance of like long term follow up. 

So, on intake, the patient's vitals are within normal limits, and then physical exam is significant for a left thoracotomy scar and a median sternotomy scar. On cardiac auscultation, there is a diastolic decrescendo murmur that is most appreciable at the left sternal border, the s2 splits at baseline, but widens with inspiration, and there is a right ventricular heave. So, with all of this kind of clinical presentation, vitals and physical exam, what is your kind of approach to the next steps in the diagnosis and the management of a patient such as this one?

Dr. Ghobrial:

Yeah, it's this is also very typical where us as ACHD physicians kind of have to work out the puzzle of what was your diagnosis that you were born with. Because, again, I mean, when I was an 18-year-old, am I going to really keep up all the operative records with me and take them with me wherever I go? Half the time, patients will say, ‘No, I don't have any records’. Sometimes the records are lost in back in the day, these were paper records, right? This is not even electronic medical records. We have to piece it together. So, the fact that he has a left thoracotomy scar makes you think, okay, was this a Coarctation repair, for example, or a BTT shunt? That's a Blalock-Taussig-Thomas shunt, right? And then immediate sternotomy scar. Then he obviously had a second part. So, you've already had two surgeries, one of them being immediate, sternotomy as a probably the second one. But the murmur you're describing is a diastolic murmur. So, I'm thinking already, and it's also you're describing a split S2 that increases with inspiration. So, then you're thinking, okay, is this a bundle branch block increases with inspiration? Means it's a right sided heart lesion. A decrescendo diastolic murmur means this may be PR, right? And the story, if I put all of this together, then, could this have been a, for example, a Tetralogy of Fallot patient that initially had a BTT shunt as a palliation until he grew a little bit older, then got a complete Tetralogy of Fallot repair at slightly an older age, which is not an atypical presentation at all, and then after that, he was lost to follow up. And now he's coming in with PR, severe pulmonary regurgitation, which is a common sequela of the Tetralogy of Fallot complete repair with RV dilation. And they did and that you can feel also the RV heave as well, right? So, one kudos to whoever did the physical exam, because they did a good job, right? Oftentimes, you don't even, like, you know, look at the back of the patient, see that they had and left thoracotomy scar. But this is extremely important, and we have to do that with all our patients, is actually do a full physical exam, everything, every step of the way, right?

Peter Chin:

Exactly, yeah, in my position as a not even resident yet, it's, it's still like at the top of my list of making sure to be as thorough as possible on physical exams, because oftentimes these things get missed.

Dr. Ghobrial:

Because, you know, nowadays, we are so dependent on, well, I'm going to get the echo right, I'm going to see what's happening, and I'm told what's happening. But the truth is, what if this patient, let's say, gets admitted to the hospital, and you're the first person seeing them, and it's, let's say it's midnight or two o'clock in the morning, and you're admitting them, right? It's actually your physical exam that's going to tell you exactly what you need to do with this patient. So, it's so important to emphasize in ACHD, and really, in any patient that comes in, how important is your physical exam skills when you first meet the patient?

Peter Chin:

Exactly, yeah. And I think especially like in those situations where there's, like, only one very limited number of eyes that can get a look at this kind of patient, that kind of information is, like, especially crucial, and things can fall through the cracks. 

So, we already talked a lot about, like, the most pertinent history and physical exam findings. Before we move on to further diagnostic workup. Is there any other like, details in the history and physical that you'd want to underscore?

Dr. Ghobrial:

So, I mean, you do a complete physical exam you'd want to check for, is there any hepatomegaly? Is there lower extremity edema? What's the JVP? Is he decompensated? I guess you have check venous distension. You want to listen to the lungs, and then you know, after that, other than this physical exam findings, I think you got the most of it.

Peter Chin:

Well, great. So, we have this picture. We've had, we've gotten the history and the physical exam at this point in time from a lab or an imaging standpoint, what are your kind of next steps in approaching the diagnosis of this patient?

Dr. Ghobrial:

So, with labs, you want to get the usual stuff. You're gonna get a CBC and a CMO, but an NT-pro- BNP is very helpful, and these are numbers that we tend to trend in these patients. It may not necessarily be very elevated, right, but it's the trend that kind of helps you follow the patient long term. And EKG is very helpful, because oftentimes these patients will also present with atrial arrhythmias. It's not unheard of that actually, my electrophysiology colleagues call me when they're actually doing an atrial flutter ablation on a patient. They're like, oh, by the way, this patient clearly has congenital heart disease of some sort, and they're coming to us for atrial flutter ablation, while clearly, maybe you have to look at the plumbing first before fixing the electricity, because that's what's driving the atrial arrhythmias. So, it's really important to get that EKG at baseline right. But you said his vitals were normal, so he's not tachycardic, which is very helpful. We always get a chest x ray on everybody all the time, right? And then after that, yeah, then we go straight to echo. 

Peter Chin:

Exactly, yeah, bringing up things like arrhythmias from my experience, and seeing and learning about conditions like AFib or atrial flutter. Initially, like, my understanding was that it was more like its own diagnosis. But like, the more that I've seen it, and the more that I've especially like in the ED, some of the people that I've worked with have, like, kind of reeducated me that it's more like a symptom of something else that's underlying.

Dr. Ghobrial:

So true in in the realm of ACHD or congenital heart disease, we always say, look at the plumbing first, right? With any arrhythmia, whether it's non sustained VT, VT, atrial arrhythmias, look at the plumbing first, because it's oftentimes driving the arrhythmia. That being said, can these patients get an arrhythmia on its own without having any significant valvular regurgitation? Yes, absolutely right. If you think of the Tetralogy of Fallot repair, it oftentimes actually involves a ventricle automate so they have a scar in their RV muscle, and that can drive VT, and there's actually an increased risk of sudden cardiac arrest or sudden cardiac death in this patient population. So, it's important to understand that. And then when you have severe PR for a long time, and you have RV dilation, and you may have some TR, a lot of these patients can get moderate or even severe TR with the RV dilation depends on how dilated it is, and you can get atrial enlargement as well, and then that drives atrial flutter. Or if they've had for any other congenital defect, some of them will actually have scars in their atria, right? And if they have scar in their atria, that can then be a focus of a primary arrhythmia, not necessarily as a sequela of a hemodynamic problem.

Peter Chin:

So yeah, that actually is very good point in that it's more it's, if anything, it's like a picture of both. It can be its own thing, but you can also be an indication.

Dr. Ghobrial:

So, we always say, look at the plumbing first.

Peter Chin:

Exactly.

So, we have, let's see. So, we've gotten some history physical, and now we've kind of gone down the road of the lab and imaging findings, and we kind of ended with the echocardiogram and the EKG. Is there any other data that you would consider at this point, if any?

Dr. Ghobrial:

Well, the I want to emphasize the echocardiogram, okay, because echos in congenital heart disease patients, if you think about your normal adult echo, the focus is mostly on the left heart right. We really get a lot of images of the LV. We even look at diastolic dysfunction, the aortic valve, mitral valve, and then your right heart gets, like, three pictures, right? It's the exact opposite for a congenital heart disease patient; you want to really look at the right heart. You want to get the RV in multiple views. You want to get the PR. You want to look at the CW and PW of the PR in more than one view, too. You want to look at is there branch PA flow reversal on the echo. And then you want to look at other things, like the TR we talked about, right? So, this is super important to actually have a thorough echo. That being said, at least it can be picked up on an initial echo. And then what we've sometimes done is that patient comes back for what we call a congenital echo, where the sonographers are actually trained extra, there's extra training to do a full on congenital echocardiogram, right, which is far more detailed, and they kind of go from A to Z in in the anatomy of a patient.

Peter Chin:

Well, that’s really cool. I didn't know that there was, like, its own separate field.

Dr. Ghobrial:

Yeah, yeah. It's even a different order. So, if you're ordering an echo, and you know, this patient has congenital heart disease, instead of typing ‘echo’, just type ‘cong echo’ congenital echo, and then that comes up with the order, and then the congenital sonographers are the ones that actually do it. Then it's like a much longer echo, obviously, much more detailed, but the focus is pick up all congenital lesions.

Peter Chin: 

Wow, that's super cool. So in addition to the echocardiogram, because I know it's as wonderful as it, as it is like as a first kind of imaging of the heart to look for plumbing abnormalities, I've also started to see some other imaging modalities become integrated in cardiac workups, including like CT angiography, or just like cardiac CTs or cardiac MRI. So, kind of with all of these imaging modalities at play, how do you kind of see those quote, unquote, newer imaging modalities like CT and MRI?

Dr. Ghobrial:

Yeah, MRI is literally the gold standard that we use in congenital heart disease when it comes to RV volumes and RV function, right? It's one of the. Best ways to actually assess the right ventricle. So, this is something that we use quite heavily. Actually, the guidelines for when to fix a pulmonary valve in the group of Tetralogy of Fallot patients is based partly on the RV volumes, the indexed RV volumes on an MRI. So that's how important of a study it is. So, for example, if your indexed RV volumes are greater than 150 or 160 then we're like, okay, this is clearly an indication that this PR is so significant, and the RV is dilated enough that we need to fix the valve right. Obviously, if the patient is symptomatic, then you know, you fix the valve. But if you're completely asymptomatic patient, then you actually want to look at the MRI to see the progression of the right ventricle over time. Another thing I do want to mention, and I want to just kind of go back, and we didn't really talk about that, is symptomatology in congenital heart disease patients. So this patient comes in with symptoms, which is actually a good thing, but I will tell you, from personal experience, is that oftentimes the patient may not actually have significant symptoms at all. And the thing is, if you think about it, they're born with this defect. They've lived with it their whole life, so they may not know that they're at they're actually limited. So, we depend heavily in clinic on metabolic stress testing, right? So it's a way of objectively identifying are they limited or not? by using this metabolic stress test, it gives you the peak VO2, it gives you how much they were able to run on a Bruce treadmill, etc. and then you can follow that over long term with a specific patient, for example. And you see, you know what, there's been a trend that you're actually getting worse and worse and worse. So, and even in the guidelines you'll use, is this a subjective symptom? or do they have objective evidence of a decrease in their functional capacity? And both are almost equivalent, right? Because they may not tell you, ‘Yeah, I feel bad’. Like sometimes the congenital patients, when they come and tell me, ‘I feel bad’, then it's really bad. That we waited a bit too long, right? MRI is extremely integral to the evaluation of congenital heart disease patients. 

Now, you mentioned CT, which is also really, really important. Now, if you think of the lifetime management of a congenital heart disease patient, right, a lot of them will come to me as an ACHD provider having had at least multiple open-heart surgeries, right? At least one, if not the usual is two, right? And if I think about the patient, I'm like, I'm trying to get you to be to your 80s and 90s with the least amount of open-heart surgeries. And to be able to do that, I need to then figure out, what can I do in between each open-heart surgery to kind of almost bridge you to the next one. Because we know by data is that there is an increased morbidity with the number of reduced sternotomies, right? It may not necessarily be increased mortality, right, but there's definitely increased morbidity the higher you have the number of reduced sternotomies over time. So, a congenital CT, which is also, again, a specific order for congenital heart disease patients is really important because, for example, a Tetralogy of Fallot patient can be a candidate for chest catheter, pulmonary valve replacement, right? And that's what I would do for this patient. Because you want to see, can I bridge him with a TPVR first, and that will buy him several years, sometimes 15 years, until he needs another surgery, and maybe we can even do a valve and valve TPVR, right? Because I want to minimize the number of reduced sternotomies over a lifetime. So, it's something that we also definitely use. You want to have an indication to have to do a PVR, in general, whether surgical or trans catheter. And then if you look at the ACC/AHA guidelines, or specifically, even the ESC guidelines, both TPVR, so transcatheter procedures, in this group of patients is actually first line. You want to see if you can do that first before you consider surgery for that specific reason that I mentioned, which is minimizing reduced sternotomies.

Peter Chin:

Yeah, it seems already that like there's a big kind of relationship, or an interplay, between the roles of interventional cardiology and cardiac surgery in managing these patients. Not only on the acute setting, but also, like, as you transition to the more long term management, as you said, getting them to their 80s and 90s with, like, the least amount of cardiac surgery.

Dr. Ghobrial:

Yeah, which is honestly a beautiful thing for me to say, that I want to get my patients to the 80s and 90s, If you think about it, like way, way back, these patients didn't make it to their 30s, right, or 40s and whatnot. So, the lifespan and thanks to cardiac surgery, thank you to the advances in cardiac surgery that is getting these patients to such an adult age where we can get them to be old, right? So, we can actually prolong their lifespan with all these surgeries and transcatheter interventions. That's a beautiful thing to be able to say for ACHD patients, right? Things have changed. It's now a chronic disease. As I'm saying, it wasn't like that way back in the day, right?

Peter Chin:

Yeah, it's incredible to see, like all of these advancements. And as you were saying, I mean, I can't say it in any other way, aside from stealing your words, but the fact that it's now more a chronic condition where survivability is so much better, it's just super cool to see and learn about.

Dr. Ghobrial:

And you mentioned like the interplay, but it's a very multi-disciplinary field, right? So, for every ACHD patient that we're taking care of, it takes multiple specialties to be able to take care of them the best way. Now, obviously a patient like that needs to be followed by an ACHD provider. That's extremely important. And if there's one message from this entire podcast, I want to emphasize would be that is, if you see a patient with congenital heart disease, get them to the right specialty. Because it's been proven and shown in studies that their outcomes are much better when they're taken care of by an ACHD provider, that's super important. Because we know that we need to bring them a bunch of other specialties to take care of them, and we have a weekly conference about these patients, where we discuss what is the best way to take care of this specific patient. And we go through their entire history and details, and then you have the surgeon, and you have the cardiologist and the interventional cardiologist, and if you need other folks, like hepatology, nephrology, immunology, we bring in whoever we need to bring in, and everybody weighs in. And then we come up with a plan of this is the best way to kind of bridge this patient to whatever next he needs.

Peter Chin:

Yeah, it's incredible to kind of hear about all of these different fields and perspectives contributing to the care of basically one patient, on an individual basis, which is incredible. 

So, we were talking a lot about, like the dynamic and the interplay between cardiology, interventional cardiology, hepatology, like a ton of different services, from the initial to the lifetime management of these kinds of patients. And then we were also kind of getting into the subject about, like, the general treatment of patients, such as this. Is there anything else from that standpoint, just like in broad strokes, about the treatment of these kinds of patients that you want to share?

Dr. Ghobrial:

Yeah, I think I mentioned the main thing, which is get them plugged in in the right clinic with the right provider, okay, and then it's kind of streamlined from there. Now, with that being said, one of the main reasons why I'm doing this podcast is we need more of these kinds of providers. So, it would be great to actually get more of you interested in Adult Congenital Heart Disease or just even Pediatric Cardiology, because believe it or not, ACHD is a underserved population. There's actually a big lack of ACHD providers, especially in the middle of the country, like you have East Coast and West Coast, right? But in the middle, there's a lot of patients that have to see just their PCP and they don't even know what needs to be done. I mean, we're the Cleveland Clinic. We're lucky, right? We have patients that, the ones that can afford to come and visit us, come to visit us. They come and travel from far away. But what about the ones that can't afford to come and see you? What's happening to them? Right? So, we need more ACHD providers across the states, right? Not even to mention, you know, in the world. But let's just talk about the US for now, is that we need more and we need more people. And it takes, it takes a lot of love and passion to go into a field like that, because it's quite complex, but it's so gratifying. It's so gratifying, like, I will tell you, I've been doing this now for eight to nine years, and I've never had a day where I am bored, or I feel like it's routine. It is always a pleasure. Like, I love my job, right? And it's a great thing to be able to say that that many years out.

Peter Chin:

That's so inspiring, that’s awesome to hear. I really like that. So, I think you underscore really important detail, especially like with regards to accessibility and serving the underserved populations. And just kind of, like from what I've seen training in like academic centers, and seeing like, super research heavy institutions, those are super cool places where, like, all those super complex conditions come in. But then you kind of have to flip to the other side of the coin and realize that all of these other people are coming from areas where they don't have those resources. So, it's very interesting to kind of like, keep that in mind and get more people interested in this kind of field too. 

Dr. Ghobrial:

Yeah, and if you have to, like, as an ACHD provider, let's say you're in a state where you may not have the super advanced surgeries and complexity of the advanced care like, I mean, we have patients, obviously, transplant for congenital heart disease patients, whole other topic, and that's even quite complex, right? But if you don't have that, at least you know when to refer them, you know when to send them to that center, so they're still far better taken care of if they they're seeing an ACHD provider. And then they, we know when to get them to the right place, right so that's also critically important, is the timing couldn't be like as critical in such a population. Because I have seen the flip side of it, and it breaks my heart when you see a patient with you know, ACHD, and they come to you and it's so late that I cannot offer them anything, right? And that's the worst. So that's why I think timing is really important. Get them to the right provider. We're more than happy to even do virtual visits. I'll do them anytime. I'll do phone calls, whatever it takes. But I think the big message is, one, get these patients to ACHD providers. And two, I want more of you to love ACHD and get into it.

Peter Chin:

It's a super fantastic field, and so very interesting. 

So just to kind of summarize, we presented a hypothetical case of a young adult that had clinical features, lab findings, imaging findings, concerning for right heart failure in the setting of most likely a congenital pulmonary valve abnormality. In the case of this guy, he had surgical repair, and as a result, was kind of having some consequences from that. We discussed the interplay between cardiology services, interventional cardiology, cardiac surgery, and a bunch of other services in evaluating and managing patients, like this one. And we also talked about like extending the timeline from just the acute setting to the long-term setting, and from primary care to preventive care to like acute inpatient care. So, a lot of moving parts in patients like these are there. Any other pearls of wisdom that you'd like to offer to those listening to this episode today?

Dr. Ghobrial:

The two most important messages is one, if you see a patient with congenital heart disease or a young patient with a scar, sternotomy scar, you know, think ACHD, okay? Either get the right testing, which is just get an ECG and an echo, or get them to an ACHD provider. And two, I need more of you to love ACHD and get into that field. Okay, we have an ACHD fellowship. It's great. You have so much fun in that. It is two years. There's talks about maybe shortening it to some of you, but I think it's a great field to get into.

Peter Chin:

Wow, what a fantastic field. And thank you so much, Dr. Ghobrial, all for coming in and sharing your wisdom and expertise. Really appreciate it.

Dr. Ghobrial:

Thank you.

Dr. Kataria: 

To our listeners, thank you for joining us on this deep dive into this important topic. We hope you found this episode both educational and engaging. On behalf of the team, thank you to our special guests who joined us today. Thank you also to the Cleveland Clinic Education Institute for the educational support of this project. Until next time, please enjoy this and future podcasts from the Cleveland Clinic Medicine Grand Rounders.