Why Choose Us for Single Ventricle Heart Care?

Beth Daddario: Hi, my name is Beth Daddario. I am part of the Family Advisory Council for Children's Hospital of Philadelphia. I'm excited to be here at Cardiology 2022 and even more excited to be here with Dr. Jack Rychick.

Jack Rychick, MD: Hi, my name is Jack Rychick. I'm a pediatric cardiologist at the Children's Hospital of Philadelphia. I wear a couple of different hats.

I am the Associate Chief of the Division of Cardiology. I am the Medical Director of our Fetal Heart Program. More recently, last few years, play the role of Medical Director of our Fontan FORWARD Program, a dedicated clinic for individuals with a Fontan circulation.

Beth Daddario: Perfect. Thank you. As someone who has been involved with the cardiac world for 30 years, both of us, that would be.

Jack Rychick, MD: Correct. Yeah.

Beth Daddario: And we both have seen lots of changes throughout the years, and fortunately, a lot of progression. What would you say has been the greatest challenge caring for a child with single ventricle?

Jack Rychick, MD: 30 years ago, we did not have the prevalence of prenatal diagnosis that we have today. More times than not, the detection of a complex form of congenital heart disease, like single ventricle was a sudden shock to a mom who was trying to celebrate and the family trying to celebrate the birth of a newborn. Sort of having your world turned upside down and trying to grapple with that information and learn what you needed to learn and begin this forced, violent entry into this world of surgical correction and a need for intervention, and then ultimately an accommodation and a learning process that would then shepherd you along. Today things are quite different, and through 30 years of experience, not only have we improved the technical aspects of what we do, but even more so now through the advent of fetal imaging, we do something that, might seem pretty minor, but is I think critically important and that is prepare families. And have them aware of what they're going to be facing. And to help support them in those challenges that we know the family's going to face. Help shepherd the delivery of that child, help educate families, again, for families who in most circumstances are not familiar with the world that we deal with on a day-to-day basis of congenital heart care, intensive care units, echo labs, frequent outpatient visits, et cetera, et cetera. So that's a major shift I think that's happened. When I started out doing this as well, just as a reflection of the strategy, we didn't know that we needed to do a bidirectional glenn, for example, to improve outcomes as part of the overall strategy. I remember very well as a fellow in 1990 when we had our group conversation with our surgeons about the outcomes going straight from a initial staged operation, stage one, to a Fontan, were not very good.

What can we do to try and improve that? And it was Bill Norwood at the time, and Marshall Jacobs, who were brainstorming on this and said, no we're gonna do half of a Fontan first. Other centers was similarly doing that at the time but I think CHOP was probably one of the very first centers to systematically bring that into the care for these patients, so a lot has changed. Prenatal diagnosis, changing the strategy of how we do the operations themselves, improvements in the technical aspects of the operations. And now we have the blessing of a generation of individuals who have gone through that, survived it. And we could not have imagined 30 years ago of the question of now what?

But the question is, now what? Now what can we do to improve the quality and duration of life of these individuals? And here's the answer to your question. That's the challenge at the moment is how do we get to not just survive, but to thrive. To have these individuals thrive and achieve our next objective, which is to provide them with the best quality and duration of life that we can.

Beth Daddario: So you're responsible in so many different ways, from the fetal heart aspect. Then you have the single ventricle, and then you also have the PLE population. All of them have their own challenges. All of them have their own conversations with parents and with families. Which segment would you say is almost the hardest to have the conversations with the families?

Jack Rychick, MD: So there, there are three domains. There are three interesting domains Beth, and the way I look at it is, two of them are linear in the sense that what happens in the fetal world has its own challenges. What happens in the Fontan circulation world is what happens next, from a time perspective. We're following our single ventricle prenatally diagnosed patients forward.

PLE is a bit of a diversion that not all of our patients fortunately fall into, but some do. Ten percent of our patients with single ventricle that we now know end up with some degree of lymphatic insufficiency, either protein losing enteropathy or plastic bronchitis. And in the current era, we are beginning to develop more effective strategies for management. I think prior to perhaps the last three to four years, we were still struggling with that. So when it comes to having conversations with families, PLE is a complication. It's a diversion. It's an unexpected side road that a subsection of our patients take.

But overall, the way I look at combining those three areas, which you've outlined, have sort of been my areas of interest and focus, is that I think we're now in the realm of thinking about what we can do prenatally to optimize the lifespan course for individuals with these types of complex conditions. And that narrative, that mindset, didn't exist previously 30 years ago. If we connect the dots there, it is connecting okay, what do we need to do to improve prenatal health, get a better understanding of placental function, do things that we know are going to be an investment, that can modify some of the complications, like PLE, for example.

It's a model. Might we learn something about modifying the prenatal state that can reduce or eliminate the complication of PLE, protein losing Interpathy, or some of the other complications? Liver fibrosis or learning issues that we now know is very much intertwined with single ventricle.

And I'll take that as an incredible example. There are some thoughts now that may be improving upon some of the placental dysfunction that exists. Can improved nutrition and oxygen delivery to the developing fetal brain, and thereby improve and invest in a better outcome in that first grader and young adult who we know is at risk for neurodevelopmental challenges?

But here's a way that we can begin to modify that at the outset. All of this is still expanding. All of this is still lots of gaps in knowledge, if you will. But this is how I see connecting those dots. People often say you're quite a fetal doc. You take care of patients in the fetal program, but yet you're still seeing my 18 year old and now I'm old enough where I'm seeing that 18 year old.

And it's the same patient who was fetus, who's now 18 years old. But my own experience in connecting those dots, I think gives me insight into knowing that there are things that we can do now prenatally as an investment for the next generation of patients who are gonna be growing into adulthood. A lot of exciting things that we're contemplating, and I think there's a very bright and optimistic future as it comes to changing the outcomes for these individuals.

Beth Daddario: Absolutely. I know I was very excited and sitting in on the Fontan lectures that were going on, and I know part of the objectives had to do with the solutions that are most helpful, in addition to the ones that you have shared as far as things we look forward to, are there any other solutions and caring for the Fontan that have been nuances for you to ponder?

Jack Rychick, MD: Yeah, couple of very, concrete things that are ongoing right now that are things that concurrently improve on outcome and things that we know will be an important investment for future outcomes. So right now, exercise. We used to think, you have a heart condition, take it easy. Don't push yourself, make your own limits and that sort of thing.

I certainly remember that being my own recommendation to many families years ago, but it was wrong. It was actually wrong. What we now know is that many of our patients are deconditioned, in particular, those with single ventricle and Fontan circulation, and that in fact, conditioning them, exercise, increasing heart rate, improves vascular tone, improves cardiac function, improves overall wellness for these individuals, and is something that we need to promote. There is a concern, we heard another talk the other day about sudden deaths, sudden events in athletes and we have mistakenly extrapolated from that and brought that sentiment to our single ventricle patients.

Dr. Jonathan Dresner had talked about this. The athletes who are having these events, they don't know they have this problem ahead of time. Screening EKGs might help and that sort of thing. My goodness, our patients with single ventricle are known. They've had their echoes, they've had their EKGs, and these sudden events, by and large, do not occur in this population.

So there's no reason to be restricting them. We have inadvertently been, I think, harming some of our patients with those recommendations. It is interesting. There has to be a culture shift in the community because people are still, parents are wary. Healthcare providers are still somewhat wary, but the data's beginning to emerge that's making a difference.

So exercise is critically important. There are some medications that are specific for Fontan physiology that are still undergoing testing. There's a particular agent in front of the FDA and they're asking for more data as it relates to the efficacy of this particular agent. I think that's, not an unreasonable thing to do because if we're gonna make a recommendation for a specific drug we wanna have the data that supports its utility because there are many, many agents that are being used now where there is no data.

And in fact, some of the data says it's probably not helpful. So we do need to do our due diligence. I think that's on the near horizon. One thing that's very exciting, is in order for us to best understand what needs to be done for patients with single ventricle, that we need to collaborate across centers and that creating large registries and databases and learning from each other is going to be key to improving overall outcomes. So something called the Fontan Outcomes Network has now formed. Many of us are involved in the leadership of this organization, the goal being to recruit, in the next three years, 10,000 individuals with the Fontan circulation across the United States, and to catalog their lives and simply by understanding what's been done, how they're doing, and looking at events in their lifespan, we'll be able to map out why it is that a particular individual patient does spectacularly well. And in fact, many are doing spectacularly well. Why aren't all doing spectacularly well? What is it that's leading to why a particular individual patient might be doing well early on, but then fail?

Why might they develop PLE and fail or have heart failure or severe liver fibrosis, which again is rare, but does occur. Fibrosis is present in all patients, but significant severe liver fibrosis, quite rare. But it does occur. What leads to those particular outcomes? By cataloging large numbers of patients, will be able to answer those questions.

So I'm very excited about the developments of this registry.

Beth Daddario: I was excited as one of the presenters were sharing information on the FORWARD Program and acknowledge that failing Fontan team to get a lot of the attention, but they're really more well Fontan. Yeah. And I think that's an exciting truth of where we've gone in medicine.

In addition to coming up with the collaboration and the national registry, what would you think would be the greatest accomplishment in caring for that patient with a Fontan circulation?

Jack Rychick, MD: If we can map out a particular course that we know optimizes an outcome and then replicating those directions to others, I think that would be one of the most important achievements and goals. In the same way now, that if I need to get from Place X to place Y, I put it into Google Maps or MapQuest or what have you. I get directions. If I put it into Waze I can find out how much traffic there is. So to a similar degree, we need to be doing that, to map out the lifespan recommendations for individuals with single ventricle, because we know what the destination is. The destination, again, as close as possible, a normal quality and duration of life. And many individuals with single ventricle will achieve that sort of randomly.

But if that is so, and that is a fact, how do we direct more individuals to take that path? Similarly, we know that some. Will end up requiring a transplant or some additional therapies. In the converse way, understanding who's heading in that direction, as early as possible, I think will be important as well.

Either to divert them from that path or to optimize their outcomes on that path. And there was a discussion earlier today also about the general reluctance to think about transplantation and to almost consider, it to a degree, of failure in some way. And it's not the optimal path at the outset, but yet if that's where reality is taking a patient, how do we best make that patient have the best optimal outcome possible on that route. And it starts with earlier identification and initiating strategies to improve their state.

Beth Daddario: Absolutely. As we finish up our visit today, what do you think is the best advice you can give to a family member?

Jack Rychick, MD: Seek out proper healthcare providers that one can build a relationship with. I think in the pediatric cardiology realm, that's more of the common rule than an exception because as providers we're all in this because we're pediatricians. We love kids and those of us who are doing cardiology, we love kids.

And we wanna care for the kids who are potentially the sickest, so we can make the biggest difference. It's easy to find passionate people who you can partner with, but I think for families it is identifying that they're a partner. So the old thinking of, there's the doctor that you go to and that's on a pedestal that may or may not deserve to be on that pedestal and, you come to see them, once or twice a year.

I think that's history. The most effective and most satisfying for a healthcare provider, I think most satisfying for a patient encounter is, when there's a sense of partnership, because there are so many other things besides just prescribing a medication or looking at an echocardiogram, reporting it, or getting an ECG that is helpful to the patient and to the family.

The best advice is for families to, again, identify the right partners, to see themselves as partners, to confirm that their providers similarly respect that partnership. And within that setup of partnership, ask questions. Something's not clear, ask it again in a different way. Seek out additional educational materials.

Having single ventricle congenital heart disease is a lifelong condition that is not restricted just to one organ or one person. It does affect the entire person and the entire family. And I think as time is progressing, we are beginning to appreciate the need for a team effort on the part of providers and if a cardiologist, and again, most of the time a cardiologist can't fully provide all the services that are necessary, I would encourage families to seek out teams where there might be additional resources available. So mental health providers? Psychologists, nutritionists, other specialists that are knowledgeable in the liver or growth or other Fontan-related challenges. We live now in a totally different world of information.

Folks can go online, find good information, if they go to the right sources. So a little bit of digging, but I think, it's not too hard to find. And really look at establishing a partnership with your providers as you move forward. I think that's probably the most important thing.

Beth Daddario: Perfect. I wanna thank you for being my partner and thank you for joining us today.

Jack Rychick, MD: Thanks. Thanks, so much for the opportunity.

Beth Daddario: Hi, my name is Beth Daddario. I'm part of the Family Advisory Council for the Children's Hospital of Philadelphia, and I'm very excited to be at Cardiology 2022. I'm happy today to be with Dr. Liz Rand. Would you mind introducing yourself?

Elizabeth Rand, MD: Yes, thank you. I am Liz Rand and I am a pediatric gastroenterologist, but particularly my specialty is in liver disease. With respect to cardiac children, my role is in the multidisciplinary Fontan Clinic, the Fontan FORWARD Program. Many of these children, in particular, develop liver problems over time, and I help to try to prevent that and take care of it, if necessary.

Beth Daddario: Can you go into a little bit more detail and share why liver health is so important and demands attention in the Fontan circulation?

Elizabeth Rand, MD: Absolutely. Liver is, of course, a very important organ. It is one of the vital organs, without which you cannot survive. But in general, the liver has a few major roles. One thing is that it processes nutrients, makes them more available or more usable by the rest of the body. It also detoxifies anything that has been eaten or drunk that might be harmful to the body.

And so it's very necessary for everything that we eat and drink. In addition, the liver makes a lot of stuff. It makes albumin, the principal protein in the bloodstream and clotting factors, just to name a few. And furthermore, it cleans the bloodstream. So it's filtering the bloodstream continuously and removing waste products, breakdown products, that are formed elsewhere in the body.

Although these are discarded, they're used in a clever way. The liver forms these components into a digestive juice called bile, which then travels into the gallbladder for storage and is released into the intestine when we eat to help dissolve the food. But then whatever's left over and not reabsorbed just ends up in the poop.

So it's a nice way to get toxins out to exit outside of the body.

Beth Daddario: Very good. As a liver specialist, how did you get interested and involved with cardiology and especially the patients with Fontan circulation?

Elizabeth Rand, MD: Well, I believe that it was Dr. Rychik and Dr. Goldberg, together with Katie Dodds, who first approached me about, the issue of liver disease in children with Fontan and their interest in forming a multidisciplinary group to look at these children, to care for them more expectantly and better over time.

And we met as a group together with some other organ specialist, I should say and kind of helped to develop the idea of the single ventricle survivorship program. And I've been really thrilled to continue to be part of that, over many years and participate in multiple discussions and expansions, and I think I've learned a lot about Fontan physiology myself. And I've learned a lot about what happens to the liver in Fontan physiology and how we can mitigate those things. It's been really fun for me to be able to participate. And in large part, that is because I think it's been really successful at helping children and young adults with these unique physiology.

Beth Daddario: Absolutely. What do you feel, from your perspective, has been the most significant advancement in the care of the Fontan patient?

Elizabeth Rand, MD: I was thinking about this earlier, that really, of course, the most significant thing was the development of the process of making the Fontan circulation. And it's such an incredible leap, the idea of doing that.

And especially, I think, as a liver doctor coming from the outside, I'm constantly marveling at that. You know, that all of these children and young adults that we see in the survivorship program, they are very healthy and happy looking members of their communities. And these are children, that before Fontan would easily have died in the first days of life.

So I think we can never get away from the brilliance of that and importance of that intervention. But then I think all of these little nuances, for example, what I do in liver or what's also done by the endocrinologist and immunologist and nutritionist and exercise physiology people. These are each of them equally important finesse points, if you will, that are going to continue to not only extend the life, but improve the quality of that life going forward.

And so it's hard for me to put one over the other, although, of course, I lean towards the liver enhancements.

Beth Daddario: You have to have your favorite, right? What would you like to see in the future care model for the Fontan patients?

Elizabeth Rand, MD: I do think that it's really important, the multidisciplinary approach. And it's really important for the physicians that are involved, because you really do have to gain some expertise in this field.

And it's not for the completely inexperienced hepatologist to just see a child with Fontan every once in a while. So that's really important for the care and for the physicians that are involved or clinicians of all kinds. And working as a group as we do in our now Fontan FORWARD program, it makes it fun and educational for the providers and better care for the patients and their families.

So all of those things together is what really makes it a successful program. And I think that's the most important thing really in all complex disease, not just fun tan physiology, but in all of them.

Beth Daddario: Right. I think you bring up a very good point, though, because it is such a complex diagnosis that unless you've invested time to be able to understand what's involved and understand the patient and the family's perspective, it really isn't a place that somebody could just jump in and substitute.

So I respect you a lot for your thought and bringing that forward because I think that's very, very true, especially in this population.

Elizabeth Rand, MD: Yeah. And one other thing that kind of spins off from that, that I think is important for young adults and families to understand. This is not a separate disease.

I don't want people to kind of walk away thinking, Oh, now my child also has liver disease. It's all part of the same process. And so the fixing of it is also kind of part of the same process. So I think that's really important. Otherwise, it becomes overwhelming for the cardiologists and the families.

And I think it's an impediment sometimes for cardiologists to even refer children because they're worried that it's gonna be frightening or overwhelming to the families. And that there may not be anything much that can be done. But there are things that can be done right. But you may not know that as a cardiologist.

And similarly, as a hepatologist or immunologist or endocrinologist, you may not really understand the to and fro between the organ systems. So that discussion among the providers is especially important in this situation.

Beth Daddario: So you bring up a good point. I'm not sure if we were both in the same session, but one of the physicians today talked about really changing the way we word the communication, you know, instead of surveillance, you know, just changing that into a more positive setting.

And I think what you're saying is true, especially from the family's perspective, is how do we hear that and how do we say it, that it's not another diagnosis. It's not another thing wrong in my situation, but it's just more of a complication that we need to work together to provide the best outcome. So that's very important for families to hear and to understand.

Elizabeth Rand, MD: Yeah. And it's a funny, two way, situation that sometimes the very success of the Fontan physiology, with respect to cardiac output obscures the need for the surveillance of the liver. Because liver congestion can occur even if cardiac output is very good. And so it seems counterintuitive that there could be a problem going on the liver and those.

Those, those two ends, the systemic circulation and the hepatic congestion are independent. And so really you have to go and check for it or you won't notice it. It's asymptomatic. And that's typical of many liver diseases, but I think it's especially difficult to understand for some people in this case.

Beth Daddario: Absolutely. As we close and the last question I'd like to ask is, what advice would you give to the families that you're caring for, especially in the Fontan world?

Elizabeth Rand, MD: One of my most common piece of advice for people in general, is don't freak out. So whatever is going on, we're going to address it, try to prevent development of problems, or if there is a problem, we have a way of dealing with it most likely, right?

And if we don't have a way of dealing with it, we're going to figure one out. That that's kind of what we like to do. A lot of people are worried about diet and other things that they can do to protect the liver and certainly protecting from excessive use of alcohol in the young adults is an important thing, but otherwise there really aren't particular dietary or supplements that I would recommend.

I like to be, keep things simple. But with respect to the liver issues and Fontan, these are manageable things that happen very gradually, so it shouldn't have to be a surprise, and it should be things that we can intervene and prevent some of the difficult outcomes that we might have had, 10 and 20 years ago before this was anticipated.

Beth Daddario: Absolutely. Well, on behalf of the families, I will say they're very lucky to have you on the team, especially on the FORWARD Program. And I want to thank you for taking time out of your busy schedule to join me today.

Elizabeth Rand, MD: Thank you. It was absolutely my pleasure as well.

Beth Daddario: Thanks.