Hope For a Lifetime - Advancing Care for Single Ventricle Heart Defects

Introduction

Narrator: Jason is 12 years old. Like many boys his age, he's preoccupied with grades and sports and music. But unlike most kids, Jason has lived his entire life with a congenital heart condition known as a single ventricle defect. Thirty years ago, single ventricle defects were almost universally fatal. Babies died within days of birth. Twelve years ago when Jason was born, care had advanced to the point that many children would survive the three open-heart surgeries required to treat the condition. But whether and how they would grow up was still a question. Stosh is 6 months old. He too was born with a single ventricle defect. As his parents take joy in watching his first year milestones — sitting, standing, speaking his first words — they can also expect that Stosh will have a much more optimistic outlook. This is the story of two boys, one program and years of medical progress. It is a story of discovery, dedication and hope.

Jack Rychik, MD: A single ventricle type of congenital heart defect is one in which, in essence, there is only one functioning pumping chamber from the lower parts of the heart.

Jonathan J. Rome, MD: And you and me and most of the people we see on the street, we have two pumping chambers. One of them is responsible for pumping the blood to our bodies, and the other to our lungs.

Stephanie Fuller, MD: So the right side of the heart that pumps blood over to the lungs is essentially blood that your body has already used that comes back to the heart as blue blood. Once it goes and circulates through the lungs, it gets oxygenated. We refer to that as red blood or oxygenated blood. And that's what comes back to the left side of the heart that then pumps it out for your body to use again.

Marie M. Gleason, MD: And when a valve inside the heart doesn't form or a pumping chamber doesn't form, that is what is considered to be a single ventricle abnormality. So by the time of birth, the baby really only has one functional pumping chamber to pump blood to the body or to the lungs.

Jack Rychik, MD: It's not a single anatomic lesion. It includes a constellation of a variety of very, very different types of anomalies, all of which essentially share the common finding of only a single functioning pumping chamber.

A Changing Landscape

Narrator: A generation ago, the future for children with single ventricle defects was uncharted territory. Today, doctors can give families a roadmap of what to expect from before birth to adulthood. It doesn't mean everything will go smoothly, but it does mean the medical team and the family are better informed and better prepared to deal with whatever comes along.

Jack Rychik, MD: There was a period of time in the 1970s and 1980s where in fact there was no hope whatsoever for these children, with the vast majority not surviving beyond perhaps even the first few days of life.

Chitra Ravishankar, MD: In the early part of our experience with single ventricle heart defects, survival was our main goal.

Jack Rychik, MD: Today, our focus is a different one. It's to not just create survival, which in essence is expected in the vast majority of cases, but to create a sustainable quality of life and to create a normal duration of life.

Chitra Ravishankar, MD: There's more focus on trying to prevent problems and trying to anticipate them.

Robert E. Shaddy, MD: To be able to give families a roadmap so that they can have at least an idea of what to expect over time.

Chitra Ravishankar, MD: Overall, our expectation is that these kids will not only survive, but survive with a good quality of life.

Narrator: Part of the ability to better treat single ventricle defects is simply knowing about them earlier. Jason's condition was not discovered until after he was born and had gone home from the hospital.

Fayrouz Azer (mother of Jason): When the visiting nurse came, she said, "You need to call 911 right away." And that's when I panicked. So the ambulance came, they took Jason. And you feel — I just felt so sad and I felt so overwhelmed, like — and so helpless. Like here is my firstborn, my beautiful baby boy, we got him out of the hospital, and now they're telling me that he's having these major, major heart problems.

Robert E. Shaddy, MD: Before fetal ultrasound was something that was fairly routine, it was not uncommon at all for babies to come in deathly ill, very acidotic, very poor blood flow to their body, with damage to their kidneys, damage to their liver, damage to their brains very often, damage to their lungs and all their organs, because we did not know that they had this problem and it was unanticipated. And when one starts with that as the starting point for trying to go into a very complex series of operations, it's not surprising that the outcomes are not nearly as good.

Fayrouz Azer (mother of Jason): I think it was 10 days before they were able to operate on him. So to stabilize him for these 10 days, to make sure that no major organ damage had occurred to him. All this could have been avoided had we known ahead of time.

Answers Before Birth

Narrator: Stosh's mother, Katrina, learned her baby had a single ventricle defect just 16 weeks into her pregnancy.

Jack Rychik, MD: Care for our patient with single ventricle type of heart disease begins at the moment of diagnosis. And today that's as a fetus. And the care strategy starts exactly at that point in time, as early as 16 or 18 or 20 weeks’ gestation.

Katrina Frydlewicz (mother of Stosh): They start prepping you from the minute you walk in the door, your first appointment. They kind of lay it all out, the plan. But they keep you in the moment, which is really helpful. They don't let you get too far ahead of yourself. So you know it's coming, but emotionally you stay connected to the spot that you're in with your child, and that helps.

Jack Rychik, MD: The development of ultrasounds in a particular fetal echocardiography has revolutionized and changed the entire landscape of how we diagnose single ventricle type of congenital heart disease.=

Stephanie Fuller, MD: The imaging quality is just amazing, especially when you think about the fact that the heart is constantly beating and it's constantly moving. Some of these hearts, they're as small as a hummingbird it seems like. That people can capture not only the delicate anatomy of the heart, but also be able to give us valuable information about the physiology is something that's very helpful to us.

Katrina Frydlewicz (mother of Stosh): And they would go through it every week. And if there were any changes, they would talk about the changes that had happened and how they would deal with that. And as scary as it was, at least we were mentally ready for when it happened.

Marie M. Gleason, MD: At the time of birth when there still will be some stress, it will be a different degree than what it would've otherwise been. They'll be more prepared and more educated about what's going to be happening to the baby after birth.

Fayrouz Azer (mother of Jason): For the parents of a child that is going to have that surgery, if they know about it before the child is born, again, the situation would be completely different.

A Special Delivery

Narrator: Today at The Children's Hospital of Philadelphia, there is a special place for babies like Stosh to be born. This is the Garbose Family Special Delivery Unit, the world's first birth facility created exclusively for pregnancies complicated by birth defects. Almost half the 400 babies born here each year have congenital heart disease.

Jack Rychik, MD: Not only can these families obtain accurate diagnosis and appropriate counseling and management before birth, but we can facilitate their delivery at the very same site where they're going to be getting their care after birth.

Jonathan J. Rome, MD: So the parents are surrounded by this whole host of caregivers who are looking after their baby from the moment the baby is born.

Woo! Chunky monkey.

8:21. There he is. Yay!

Do this, do this. There you go. Look at you.

Jack Rychik, MD: And this is a rarity, to have a delivery unit on-site at a children's hospital where you can begin to mix and marry the best of care for the neonate and for the mother.

Stosh Andrew, 8:21.

Narrator: Not every baby needs immediate medical intervention, but for those who do, the team is ready. Stosh receives a breathing tube and then goes for a visit with mom.

Can we come in? Here we come.

Stosh is here.

Marie M. Gleason, MD: One of the biggest advantages of our special delivery unit is that it provides a high degree of stability for the infant after birth, but it also allows the family to be in a much more stable situation.

In the Intensive Care Unit

Narrator: From the Special Delivery Unit, the newborn is taken to the Cardiac Intensive Care Unit just steps away from his mother's room. The CICU at CHOP is among the largest and most sophisticated in the world.

Katrina Frydlewicz (mother of Stosh): It's so nice to know that I could deliver, you know, I could be in the same hospital, he would be right down the hall, we could go visit him within hours, you know. As much as we wanted, we were able to come and go to see him. And that was — yeah, it was really, really nice.

Stephanie Fuller, MD: Care in the ICU is the big thing that's really evolved over the last 10 years in terms of managing these patients.

Robert E. Shaddy, MD: It's staffed by intensive care doctors. It's staffed by cardiologists. We have surgeons coming through, anesthesia, an extraordinary nursing staff.

Fayrouz Azer (mother of Jason): The fact that we lived here for a good 17 days, we got to meet a lot of the nurses.

Kathryn M. Dodds, RN, MSN, CRNP: To be an Intensive Care Unit nurse who's taking care of post- operative cardiac patients requires a special level of expertise.

Jack Rychik, MD: They are the glue that holds the family together at times. They play a role in education. They can make, with some families, a much closer connection and offer a rounding out of care to our patients.

Kathryn M. Dodds, RN, MSN, CRNP: There is the clinical care of the infant and the child in the Cardiac Intensive Care Unit, and then there is the developmental care of that infant and child in your Intensive Care Unit as well. The importance of lighting and noise, the importance of skin-to-skin contact, the importance of realizing that positioning might make an impact on this baby in the future.

Marie M. Gleason, MD: It is a great thing to be able to walk through the ICU and see babies who are doing all the normal baby things that you would expect, and yet are going to open-heart surgery in a very short period of time.
And that's because their prenatal diagnosis allows them to be managed without getting sick like in the old days when diagnoses were made after birth.

Narrator: Care in the CICU extends to the entire family.

Stephanie Fuller, MD: It's very nice to see normal family bonding, whether it be a mother having the ability to breastfeed at her baby's side or whether it's siblings coming in to visit in the ICU. And that really helps to try and preserve as much of a normal experience for them that you possibly can during this very stressful and very difficult time for families.

Robert E. Shaddy, MD: An example of that is our patient-centered rounds, our family-centered rounds, where the family is there, is present with the nursing staff, with the physicians, with the entire team, and they will join us on rounds. They'll have a discussion about what's going on and have a discussion on what the plans are going forward.

Jack Rychik, MD: If necessary, social work services are available. There's child life available for other members of the family, other children who are obviously going to be curious about what the baby's going to be all about and what stresses there might occur thereafter.

A Specialized Surgical Team

Narrator: Surgery for single ventricle defects is among the most complex of cardiac procedures performed on the smallest of hearts. The first of three planned operations occurs within the first few days of life.

Jonathan J. Rome, MD: Children with single ventricle, by definition, only have one pump, and of course we have to use that pump to pump the blood to the body. So the question is, how do we get blood flow to the lungs?

Jack Rychik, MD: Their circulation mimics normal, but is still not a normal one. The blue blood makes its way to the lung and the pink blood makes its way to the body, but in a very different way than what one would expect if you had two pumping chambers.

Stephanie Fuller, MD: So what we try to do is basically take what we have and make it work. The Fontan circulation is basically taking the blood supply that's returning to the heart as blue blood and putting it into what we call a cavopulmonary connection, which is that blood averts the heart completely and instead the blood flows directly into the pulmonary arteries and into the lungs. It's not an operation we can do all at once. It's a three-stage process that usually starts with the first operation around the time of birth, the second operation around 4 to 6 months of age, and the third operation usually around 2 years of age.

Jack Rychik, MD: And we now know that that allows for survival and a relatively good quality of life.

Chitra Ravishankar, MD: It is an amazing place, the cardiac operating room, and it's all about teamwork.

James M. Steven, MD: There's nobody that has a finer team, I think, of surgeons than we have here. Their outcomes are remarkable, their skill set is remarkable, and they’re also remarkable individuals

Marie M. Gleason, MD: They're all working with the goal of taking care of this little, tiny heart that's on the operating table. And I always find it such a privilege to be able to see the heart moving, to see the surgeons doing such delicate work in a very, very small field.

Jonathan J. Rome, MD: It's vitally important that you have an anesthesia team that really understands their physiology and can care for them as they undergo multiple procedures.

James M. Steven, MD: It's worked best for us to have a small, cohesive team that are very focused on this subspecialty. And there's a lot to-- there's a lot to learn, there's a lot to master, and it's constantly evolving over time.

Chitra Ravishankar, MD: Not only do the anesthesiologists bring the usual technical abilities to the table, they also have this unique understanding of cardiac anatomy and physiology.

Marie M. Gleason, MD: And that's so important to having successful outcomes with their procedures. And they are a very integral part of our team.

Thriving Between Surgeries

Narrator: In the period between the first and second stage operations, babies continue to be at risk for complications, even death. When Jason had his surgeries, his family could only watch and wait. Not so for Stosh.

Jonathan J. Rome, MD: Over the last several years, there's been an effort across the centers that look after these children to try to make a difference and try to prevent that sort of problem.

Jack Rychik, MD: We're part of a national collaborative effort to begin to tease out the variables that may influence outcomes in the very first few months of life. Our Infant Single Ventricle Monitoring Program has been established in order to perform regular assessments and collect data of these patients to share it with other centers so that we can look at what factors influence how these patients are going to do in their very first early days of life.

Kathryn M. Dodds, RN, MSN, CRNP: Families are discharged with a scale so that they can weigh their baby at home. They're discharged with a pulse ox so that they can measure their baby's oxygen saturation at home. And then they are seen by their pediatrician and by their cardiologist weekly, alternating, so that every week you're being seen by a physician, either the pediatrician or the cardiologist.

Katrina Frydlewicz (mother of Stosh): And you have the nurse practitioner that calls you weekly, keeping tabs on, you know, his weight, his pulse ox, his oxygen levels, as well as follows you to each of your appointments. And she's the go-to person with everything. So you have that contact person and it's so helpful. It's so reassuring to have her.

A Roadmap for Childhood and Beyond

Narrator: When Jason was born, a successful outcome for a child with single ventricle was surviving surgery. As he grew from infancy into childhood and adolescence, the focus of his care was understandably his heart. But today, just surviving is not enough. The focus is now quality of life over many years. After decades of treating these patients, doctors have found that children with congenital heart disease are likely to face other long-term challenges, apart from the health of their hearts.

Robert E. Shaddy, MD: We have the good fortune of having these children now survive their surgeries and often a series of three or more surgeries. But now we're finding out new problems as they go into teenage and adult years.

Marie M. Gleason, MD: As our children have grown up and gone to school, we've been learning that they're more prone to school problems.

Chitra Ravishankar, MD: Children with complex congenital heart defects are at higher risk for having problems with ADHD, learning problems, behavioral issues, and certain specific issues with their language and writing as they progress through the school systems.

Jack Rychik, MD: We want to improve their quality of life and begin to address the specific challenges that relate to being a survivor of single ventricle. That's where programs such as the NeuroCardiac Care Program and the Single Ventricle Survivorship Program come into play.

Stephanie Fuller, MD: The NeuroCardiac Clinic was really established to help follow these patients not only anticipate what their needs are, but also establish a type of intervention very early for patients. It's a very multidisciplinary clinic that comprises of the cardiologists and neurologists, people from physical therapy, occupational therapy, often speech therapy, many social services are combined. And really the effort is to have the parents come into one place where they can get a group assessment on how their child is doing throughout various stages of their development.

Katrina Frydlewicz (mother of Stosh): To pick up on that at each developmental milestone is great, because you don't know going into this. You know, it's a different experience, different care, different problems. And it's great to have that from the beginning and going forward.

Marie M. Gleason, MD: The clinical research that's been done at CHOP and at other institutions about neurodevelopmental outcomes in children with congenital heart disease has been very important. And we're proud to say that we were in the forefront of starting clinical programs to address some of these developmental issues at The Children's Hospital of Philadelphia based upon the outcomes of this research.

Robert E. Shaddy, MD: We feel it's really our responsibility to continue to find new ways to anticipate problems that could develop, and when problems do develop, to find new ways to treat those problems. Here at CHOP, we've actually set up a Single Ventricle Survivorship Program, which focuses clinical efforts, and even a major part of our research focus is in this area as well.

Jack Rychik, MD: It has two aspects to it. One is to begin to manage and care for some of the challenges that we are seeing our children face as they get into their school age, teenage and adult years.

Robert E. Shaddy, MD: There are endocrinologic issues that may show up, sometimes gastrointestinal issues that show up. So it really does require building teams that can manage these problems at every stage throughout these patients' lives.

Jack Rychik, MD: The second role of the Single Ventricle Survivorship Program is in fact to function as a program that can clinically screen patients who have made it through surgical reconstruction. Because we don't yet fully understand the extent of some of the challenges that these children are going to face, we think it's now important to try and head off some of the unexpected and some of the unknowns and begin to test and look at different organ systems after the Fontan operation.

Narrator: Stosh will be followed in CHOP's programs well into his school years.

Leaders in Heart Transplantation

Narrator: Despite extraordinary advances in care and steadily improving outcomes, some patients with a single ventricle will eventually experience heart failure and require transplantation.

Robert M. Shaddy, MD: The Heart Transplant Program at CHOP is a program that's been in place now for over 20 years. Patients are seen initially in our Heart Failure Cardiomyopathy Program as a group that works
specifically on dealing with heart muscle problems and working on medications and trying to optimize medications to avoid heart transplant. However, sometimes despite all of our efforts, there is a subset of patients who finally reach a point where the only option really is cardiac transplantation. And that is a very good option for these families and for these patients.

Narrator: As patients await transplantation, some like 2-year-old Myzay will need the Cardiac Center's expertise with assist devices to help the heart continue pumping.

Jack Rychik, MD: A heart transplant is the commencement of a new journey. It's a way to transition from care in which management has been focused on single ventricle and all the circulatory limitations of that to a potential new life.

Growing to Adulthood

Narrator: Thanks to advances made in the ྌs and ྖs, Jason is one of the steadily growing number of patients with complex congenital heart disease who will need to transition from pediatric to adult care providers. These patients are literally pioneers, some of the first to reach adulthood living with single ventricle defects.

Jack Rychik, MD: More human beings with congenital heart disease that are over the age of 18 than those that are under the age of 18. And that's not because there are less babies being born with heart disease. It's simply that by virtue of our success, we've created a huge and growing population of patients, adults, who are survivors of the rigors of surgery for congenital heart disease.

Robert E. Shaddy, MD: Adult congenital heart disease has now become a specialty in and of itself.

Marie M. Gleason, MD: Your endocrinologist who's an adult doctor can take care of diabetes just as well as a pediatric endocrinologist. Your adult pulmonologist can take care of asthma as well as a pediatric pulmonologist. But adult cardiologists are not trained at all in congenital heart disease, and it's a completely different world to them.

Robert E. Shaddy, MD: We have really partnered with the University of Pennsylvania in building a program that allows patients with adult congenital heart disease to either be managed here at CHOP, depending on their age and their heart lesion and whether they have other problems outside of their heart, or to be managed at the adult hospital.

David Drajpuch, RN, MSN, CRNP: Our specialty is looking at people who are born with heart defects, who are born with congenital heart disease and who've been put back together, who have things like conduits and reconnections of the heart to blood vessels. And certainly we have patients who are struggling and whose repairs have had unintended sequelae. And when they reach their second, third, fourth, even fifth decade at this point, they're running into problems where the heart isn't pumping as strong as it should, and they need the help of our team.

Chitra Ravishankar, MD: These children as they grow older, they are likely to require other specialists such as a liver specialist, and a bone specialist, an endocrinologist.

Marie M. Gleason, MD: It's best for all those specialists ideally to be in one location and that type of coordinated care is really only available in a few locations throughout the country.

Jack Rychik, MD: That's where the field of adult congenital heart disease comes into play and is an integral part of the seamless continuum of care that we offer — from our Fetal Heart Program to the NeuroCardiac Care Program to our Single Ventricle Survivorship Program and onto adult care.

A Comprehensive Center

Narrator: The care of children with single ventricle defects requires many disciplines working together and facilities designed to support an interdisciplinary approach.

Jack Rychik, MD: The uniqueness of the Cardiac Center of the Children's Hospital of Philadelphia is that we have a expert service that's available to the patient with complex heart disease at every phase of their life.

Kathryn M. Dodds, RN, MSN, CRNP: The Cardiac Center has always been 10 steps ahead from a facility perspective.

Stephanie Fuller, MD: We have some of the most enviable facilities probably in the world. We have two operating rooms and two cath labs with a hybrid room that are exclusively for the Cardiac Center, an MRI, and a CT scanner. We have unlimited resources as far as technology with cardiac intervention and cardiac catheterization as well as with our electrophysiology suite.

Jonathan J. Rome, MD: And it's one location where we bring together the cardiac operating rooms, the cardiac cath labs, and even the delivery unit. It's all together.

Stephanie Fuller, MD: And then our ICU is on the same floor as well as our step-down unit. So families can come in and get every service that they need, provided for them not only in the same hospital, but also on the same floor.

Jonathan J. Rome, MD: It allows us to develop all sorts of innovative procedures. It allows us to minimize the amount of time that's necessary, minimize transport for these children.

Narrator: Excellent care also requires a partnership between the Cardiac Center and the cardiologists who provide ongoing primary cardiac care.

Stephanie Fuller, MD: For me, the collaboration with referring physicians is almost as important as the collaboration or the relationship I establish with the families. It takes an incredible amount of trust as a cardiologist, especially one that's been potentially following a child for several weeks or several months or even years, to be able to select a surgeon and trust them to operate on a child whose family you've known and whose family you have assured time after time that probably everything's going to be okay.

Jack Rychik, MD: We fully understand the very close and intimate relationship that does take place between a primary cardiologist and a survivor of single ventricle surgical rigors.

Robert E. Shaddy, MD: We function as a consultant with the intention of having the patient then return to their cardiologist for follow-up care, but to be available to them if and when issues come up.\

Fayrouz Azer (mother of Jason): They're always so willing to work with other doctors and take their advice or take their feedback. So I was really happy to have that nice relationship between the two doctors working together to make sure that Jason is getting the best.

A Future Without Limits

Narrator: Challenging questions — Why congenital heart disease occurs? How it can best be treated or even prevented? What patients can expect throughout their lives? — continue to drive the CHOP professionals who care for these children.

Stephanie Fuller, MD: For so many years, people with heart disease were told, "You can't..." You can't lead a normal life. You can't go on and have a family. You can't go to college. You can't, you know, work full time. And instead we have patients who are not only doing what they were told they can't do, but they're doing everything they want to do.

Kathryn M. Dodds, RN, MSN, CRNP: We want the future to be as bright and as limitless as possible. And there may be some issues that we need to deal with, but we can't be afraid of them. We have to embrace them. And we have to answer those difficult questions.

Jonathan J. Rome, MD: The way that we make improvements is by continually learning from the patients we're caring for. Trying to take our knowledge and bring it back to our patients to see if we can continue to improve their outcomes.

Jack Rychik, MD: Those of us that are here at Children's Hospital have an obligation, because we have the knowledge that we have, to continue to expand that knowledge and to continue to offer hope to our children with single ventricle heart disease.

Fayrouz Azer (mother of Jason): The way the science is advancing, the way the research is advancing, we believe that there will be some things that 10 years ago we didn't think were possible.

Robert E. Shaddy, MD: We're due for a major breakthrough. And maybe it's going to be in mechanical support of some kind that's more long-term support. Maybe it's going to be in stem cell therapy where we can actually build a new ventricle. Maybe it'll be in new medications that we can use. Maybe it'll be just in terms of how we reroute the circulation. I think the future is bright. There's a lot of work going into this, a lot of very smart people.

Stephanie Fuller, MD: Expert clinicians, amazing researchers, people who are thinking about what's coming next.

Fayrouz Azer (mother of Jason): A good team that does everything they can to find more, to know more, to give families hope for the future.

Robert E. Shaddy, MD: That's what really drives me and drives our group here.

Marie M. Gleason, MD: To see all the research that we've done actually implemented.

David Drajpuch, RN, MSN, CRNP: The fact that those very first repairs done at Children's Hospital are now into adulthood is phenomenal.

Katrina Frydlewicz (mother of Stosh): We're so happy to have him be a part of that, because as they keep collecting data they'll be able to help him and other children as they go forward from this. It's amazing and we're very happy to have him be a part of this program.

Fayrouz Azer (mother of Jason): We do believe that here at Children's Hospital you only get the best of the best. So I do have a lot of hope for the future.