About the Fetal Heart Program

Doctors and nurses talk about the Fetal Heart Program at The Children's Hospital of Philadelphia. From referral and diagnosis, planning and delivery to treatment and the future, doctors and nurses at CHOP are making great strides in the diagnosis and treatment of congenital heart defects.


Diagnosis Before Birth

Thomas L. Spray, MD: The Cardiac Center at The Children's Hospital of Philadelphia was created in about 1997 as a way of bringing together all of the areas of specialty dealing with children with congenital heart defects.

Unknown Speaker: We as a center have the privilege to take care of a very large number of patients with congenital heart disease.

Denise D. Donaghue, RN: We have families coming into this really complex continuum of care, and we weren't beginning it early enough. We were starting it when they came to the intensive care unit.

Jack Rychik, MD: And that's where we come in with the Fetal Heart Program. Our objective is to make these diagnoses of heart disease as early as possible.

Denise D. Donaghue, RN: To assess the fetal heart, the function, the structures

Jack Rychik, MD: To provide information to these families

Denise D. Donaghue, RN: And to have them avail themselves of all the other resources that we want them to meet.

Michael W. Bebbington, MD: So when they do come to the time where they're going to deliver, they can still celebrate the birth of their child and also know that that child is going to be cared for in the best way possible.

Denise D. Donaghue, RN: It's devastating for families to learn that they are carrying a baby that has congenital heart disease. This impacts the way they envision the future.

Jack Rychik, MD: And here, with this devastating news of realizing that there's a birth defect of the heart in their fetus, all of that comes shattering down.

Kim Persick: You're stunned, you know. You're shocked.

Lynne Ramsay: The word really is shocking. It was just impossible to believe.

Donna Lamborne: You're sitting there going, "What?"

Andrea Thrush: What do you mean there's something wrong with my child?

Lynne Ramsay: We felt so helpless and overwhelming. It was very scary.

Thomas L. Spray, MD: We identified that families who knew about a child with a congenital heart defect in advance, before delivery, first, had the ability to get more information and be more comfortable about their child, but in addition, would enable us to have these children come in and be stabilized better before their surgical procedure or their other intervention that is necessary for their heart defect.

Jonathan J. Rome, MD: We recognize that heart disease doesn't start at birth. In most of these circumstances, it starts in the developing fetus. And so the concept of a fetal heart program is the idea of trying to diagnose the problem before a child is born, and then at very least you can prepare parents for what they're going to face.

Robert E. Shaddy, MD: Now we can look at the fetus at a very young age and be able to diagnose when there's a problem and then be able to track that fetus throughout pregnancy.

Denise D. Donaghue, RN: We introduced the Fetal Heart Program at Children's Hospital in May of 2001, so it's really not that old. And even that's come a long way.

Sarah Tabbutt, MD: From just being able to diagnose heart disease before the baby is born to actually being a program that can support parents with education and expectations.

Jack Rychik, MD: We provide a complete educational process, complete educational experience.

Susan C. Nicolson, MD: To plan with that family the remainder of the woman's pregnancy, all the way through to delivery and postnatal care of the baby.

Jack Rychik, MD: The earlier you can make this diagnosis the better is the outcome going to be for these families.

Anthony Ramsay: A lot of babies that aren't diagnosed early, like we were actually, have a lot of problems because they think the baby is OK, and they go home, and they start having ... they start turning blue, right, and then the baby is under stress. And then they bring them back, and it's actually a very difficult operation at that point.

Sarah Tabbutt, MD: The beauty of the Fetal Program is that the diagnosis is made in advance. The parents have an expectation about what's going to happen, and we can keep the baby from getting sick. So you have a much better patient going to the operating room for their surgery.

Referral and Diagnosis

Denise D. Donaghue, RN: The whole point of this program was to make this easily accessible, to make the resources of the Cardiac Center easily accessible to families and patients and to referring physicians.

Peter J. Gruber, MD: Most of the kids that come through an outside physician's office do not have these complex diseases, so they really provide the first line and one of the most difficult things, and that is to identify these kids, to begin with, and get them into the program.

Denise D. Donaghue, RN: Most of our families are coming from their high-risk obstetricians or even being referred from pediatric cardiologists, locally or across the country.

Michael W. Bebbington, MD: When patients are referred here for an evaluation prenatally, they undergo a fairly intensive, usually one-day evaluation.

Jack Rychik, MD: Typically that's done through a Level II type ultrasound, an obstetrical ultrasound, where the fetus is scanned from top to bottom, looking at other organ systems besides just the heart itself.

Michael W. Bebbington, MD: That's to make sure that there aren't other abnormalities that co-exist with a primary cardiac abnormality.

Jack Rychik, MD: In many, many cases, congenital heart disease is isolated; it occurs on its own. But oftentimes it can occur within a context of some other type of problem. There are a number of chromosomal anomalies that can be associated with different forms of congenital heart disease, common things being Trisomy 21, or Down Syndrome. There can be other forms of trisomy diseases which, unfortunately, have a much poorer outcome.

Michael W. Bebbington, MD: They may or may not then also have a fetal MRI added to the evaluation, and then they have the extensive fetal echocardiography.

Thomas L. Spray, MD: The key to the Fetal Program is imaging, to be able to do ultrasounds and make the diagnosis of congenital heart defects very early in fetal life.

Jack Rychik, MD: We now have technologies that can allow us to look at the fetus as early as 10 to 12 weeks' gestation.

Denise D. Donaghue, RN: We actually have two dedicated fetal sonographers that this is all they're doing.

Zhiyun Tian, MD: We are very confident when we do the scan, so we make the patient also feel more comfortable.

Peggy McCann, RDCS: My job is to really get a full understanding, or as best of an understanding as we can have, for how these babies are going to behave after they're born.

Jack Rychik, MD: To analyze the structure of the heart, both from an anatomical and a structural standpoint and a functional standpoint, and to look at blood flow patterns.

Peggy McCann, RDCS: It's incredible, the things that we can see today. We can see almost everything. By the end of the pregnancy, we can really get a good understanding with what the baby's physiology is going to be.

Zhiyun Tian, MD: Every baby looks like a real baby to me because I can see baby's movement. I can see baby's hands; I can see baby's, you know, heart and the entire circulation.

Denise D. Donaghue, RN: If we didn't have the diagnostic images to track and trend, there's a lot that we would not be able to help anticipate with and for families.

Andrea Thrush: It's hard to hear it, but it was, for us, easier to accept and understand.

Kim Persick: Because then you can prepare yourself for when the baby is born and what needs to be done.

Jack Rychik, MD: I'm very pleased to be able to give you some good news today.

Denise D. Donaghue, RN: After they have their first scanning, they sit down with one of the physicians and the nurse coordinator, and they're told in extensive detail what the diagnosis is.

Anthony Ramsay: They explained what, you know, could happen, you know, how the heart, the make-up of the heart was a little bit different than other babies, just talk about, like, the way the blood flow is going to happen, talk about the different stages of the operation.

Jack Rychik, MD: Having this information upfront, knowing about these ... the spectrum of these anomalies upfront, can certainly help families in terms of decision making and can also be helpful in terms of preparation and knowledge about what needs to be done when these babies are born.

Andrea Thrush: Our outcomes are much better, we feel, because we knew and had time to plan and understand the concept of everything.

Fetal Monitoring

Denise D. Donaghue, RN: Any fetus that is diagnosed with congenital heart disease, we follow them at least every four weeks.

Jack Rychik, MD: We have families return for frequent evaluation in a serial manner, using fetal imaging, and that's an opportunity to communicate back to the patient but also an opportunity for us to provide updates to other members of the team as we go forward.

Donna Lamborne: We came each month for an ultrasound. Dr. Rychik personally came in and met with us each time.

Denise D. Donaghue, RN: Through the course of serial fetal echocardiography, we're able to follow that fetus' heart to see how it's developing, what changes are happening, because this is a very dynamic period.

Zhiyun Tian, MD: Every picture is a new story what the baby try to tell me.

Peggy McCann, RDCS: Things change during the course of a pregnancy. As a baby grows, things change. Not only do the legs and abdomen and brain fortunately grow, but the heart can change. And we want to know as close to delivery what to expect, how this heart is going to function.

Denise D. Donaghue, RN: We want families to have an opportunity to learn as much as they can about the baby's heart and the defect and what the plan for management is going to be. And we find that we're able to build on our discussions every time we see a family.

Andrea Thrush: We went from a huge, powerful, you know, diagnosis to a plan.

Jack Rychik, MD: Families will meet with the surgeon. They'll meet with intensivists.

Sarah Tabbutt, MD: The families also can tour through the ICU so they have an idea of where the baby is going to come. And if they'd like, they can meet with any of the practitioners who will be taking care of the baby.

Peggy McCann, RDCS: So by these last visits, these families, they really come to know us well. We know them well. We know the other things that they're dealing with, other children, travel, things like this, and we make it as easy as we can.

Sarah Tabbutt, MD: Some families are really worried about the surgery itself. Some families are worried about is the baby going to be able to eat by itself, or is it going to need a feeding tube? Some families are worried about, you know, the 3-year-old sibling, how is that child going to do? Some families are worried about the logistics of getting back home. So everybody has got different concerns, and we have people to help with all that stuff.

Denise D. Donaghue, RN: We have a social worker that works specifically ... who's dedicated to the Fetal Heart Program, and she's able to meet with families before delivery of the baby, but she's going to be an important person to them in the ICU. So that's continuity of care.

Jack Rychik, MD: It's important for other siblings to be brought into the circle of knowledge, and that's where child life specialists come into play.

Denise D. Donaghue, RN: To make them feel important and know how they can help contribute to the baby getting well and make sure that they do OK through this entire process with the family.

Sarah Tabbutt, MD: We do provide a lot of support for the mothers who want to provide breast milk.

Denise D. Donaghue, RN: A lot of moms come to us thinking, "I'm just not going to be able to breastfeed my baby." That's absolutely not true.

Sarah Tabbutt, MD: Not only are the nurses at the bedside very facile and educated in this, but there's also a whole lactation support system.

Denise D. Donaghue, RN: We have a lactation specialist that's going to work with those mothers, and then that lactation specialist will work with the mother after the baby is born in the ICU. So again, it's that continuity of care.

Donna Lamborne: The experience was unbelievable. We felt as though we could call anybody here at any point to get information, ask any kind of question.

Jack Rychik, MD: We want to be able to create a situation where as much information can be conveyed, knowledge can be transmitted, and the hands of these families held as they go through this process.

Special Delivery Unit

Denise D. Donaghue, RN: So many families believe, once they have a diagnosis of congenital heart disease, that they're going to have to have a C-section, and that's just not the reality.

Michael W. Bebbington, MD: There's very few situations where it is intrinsically necessary to deliver by a Caesarean section.

Jack Rychik, MD: A vaginal delivery is safe, and the mother can go through that normal process.

Denise D. Donaghue, RN: The fact that we're able to deliver babies within our own system in the Special Delivery Unit with our own team of high-risk obstetricians working with us as part of the team is invaluable.

Lynne Ramsay: There was a team for the baby and a team for, you know, monitoring everything that was going on. It was a little overwhelming, but it made ... it was comforting to know he was here right away.

Shane Thrush: That was tougher. That's when it really kicks in, that this is not going to be a normal delivery.

Jack Rychik, MD: For most circumstances, we do have an opportunity to have perhaps dad hold the baby for a moment, for mom to look at the baby. But in the vast majority of cases, there will be a need to perform these various procedures, and the baby will then be transferred to the intensive care unit for management. And it's really in the intensive care unit where families will have their best, most valuable time with the baby.

Anthony Ramsay: Once they did their assessment, you know, then I was at least able to go see him, which was good. He was pink, you know, and everything. So, you know, he looked healthy, you know, from our standpoint, but it was still a joy.

Denise D. Donaghue, RN: It's a huge benefit for mothers and fathers to be able to be geographically close to their babies.

Michael W. Bebbington, MD: What frequently happens in other institutions is that mothers are cared for in separate hospitals from babies.

Unknown Speaker: The Special Delivery Unit enables the entire family unit to be on site at CHOP.

Peter J. Gruber, MD: To really integrate the care of these kids from before birth, through the birth process, into whatever palliation or operation they may need immediately after birth.

Robert E. Shaddy, MD: What this does is allow us to have instant access to these babies who need immediate care, whether it be cardiac care or other care.

Jonathan J. Rome, MD: The space is contiguous use with the cardiac operating rooms and catheterization laboratories, so a baby could literally be born in one room and go to the next room for a treatment, and the mom is right there. And she's right there before delivery and after delivery.

Sarah Tabbutt, MD: So it provides a continuity of care. If there's a problem with the baby in the delivery room, the cardiac intensivist who's going to be taking care of the baby could participate

Jack Rychik, MD: To assess the baby's cardiovascular system, to place lines into the belly button of the newborn to act at IVs where we can administer medication.

Robert E. Shaddy, MD: Often, it's a very shocking situation for families to see their child like this. Now, fortunately, we have the ability to take the families to the ICU beforehand, so I think the shock value, based upon what we can do with the Fetal Heart Program, is actually much less.

Andrea Thrush: She was immediately given IV lines and monitors in her belly button to watch her heart function and give her medicine.

Denise D. Donaghue, RN: These kids are really stable, and that's a good thing, to be able to work with families about that. Very rarely is there an emergency that you need to take a baby to the operating room urgently, unexpectedly. More often than not, it really is an uneventful birth, if you will, with medication started. And the baby goes to a cardiac intensive care unit instead of a newborn nursery, but it's a baby who we're able to keep relatively stable for even a few days until surgery needs to happen.

Life in the CICU

Sarah Tabbutt, MD: If you come to the Cardiac ICU, it is always moving. It's always ... there's always a huge energy there, and the group of people that work in there all have this incredible pride of taking care of these really sick kids, providing emotional support for the family.

Denise D. Donaghue, RN: Once the baby gets to the intensive care unit, all of these weeks and months of planning and anticipation, and now here the baby is in front of us, and we have real information to deal with. We have a real plan. It's not theoretical surgery. The baby is going for surgery. You have a date; you have a time. It's a very different level of stress for families.

Sarah Tabbutt, MD: So when the family walks in and sees their child, if the baby has been born uncomplicated and just started on its medication, it's gotten its lines and come over, it looks actually very comfortable. And I think that that transition is pretty easy. If the baby has gotten sick, then the family has been told by phone, or they've been there, about the baby needing a breathing tube. But they may not have seen that, and that's a much more difficult transition. And we're very sensitive to that.

Shane Thrush: To see her there, all that stuff plugged into her, it was overwhelming. But, I mean, once they let us hold her, it changed it back to more of a normal situation.

Anthony Ramsay: You know, it is overwhelming. Such a little, you know, it's a little baby laying there.

Andrea Thrush: She was comfortable and not in pain of any sort, so it was okay in that respect.

Sarah Tabbutt, MD: The nurses are incredibly good about transitioning the family to life in the ICU.

Lynne Ramsay: We got to know so many nurses because we were always there, you know. We really didn't leave.

Anthony Ramsay: Yeah, a couple times, they were like, "Look, you guys go. I'll hold him. I'll sit in a chair. I'll rock with him, you know, go down and get something to eat. Go get a cup of coffee."

Shane Thrush: She was in good hands. Like you didn't feel like you had to be at the bedside every minute because you just kind of had a sense of they know what they're doing.

Sarah Tabbutt, MD: The nurses try to provide consistency, so if they're working several days in a row, they always try to have the same patient. They try to have the same patient before surgery and after surgery. Each child has one ICU attending that's kind of keeping an eye out for that particular baby, so they know, you know, who sent the baby here. They know the parents. They do the most, you know, most of the conversations with the parents. They know the social situation for the family. You create a bond with the family, so to speak. There's a lot of camaraderie between parents. Once they've sort of adjusted to being in the ICU, you'll often see them getting coffee with another set of parents, and I think there's a connection that they make with the other parents at that time which is pretty strong.

Trai Lamborne: Concerned for yourself; you're concerned for other families.

Donna Lamborne: You start to bond with people pretty quickly, and you spend a lot of time together, you know, in the waiting rooms, sitting at the bedside of the different

Trai Lamborne: Days of surgery.

Donna Lamborne: Right, days of surgery.

Anthony Ramsay: The amazing thing was how many kids were in the ICU when we were here. Like, almost every room was full, you know. It really looks like you're not in this alone.

Sarah Tabbutt, MD: The amount of time the babies have to stay in the ICU depends on what their heart problem is. I usually tell parents that if the baby is not a premature baby that's been diagnosed without getting sick, that the expectation is that they will probably be in the Hospital somewhere between 10 days and two weeks. That's our average. But I always mention to the family that it could be longer because you tend to put the two weeks in your head, and then two weeks and one day is, like, terrible. But it could easily be two weeks and one day.

It's not like every day your baby gets better. Some days are a little setback, and that can be really hard because you kind of have a goal when you're going to go home, and something sets you back. That can even be more difficult than the baby's surgery itself.

Denise D. Donaghue, RN: And this is where the social worker works very closely with the nursing staff in the Cardiac ICU. This is the team caring for the baby before surgery, preoperatively in the ICU, so these are the people that know the baby right from birth, have been with the family right from birth. For them to be interfacing with the social worker who's been working with the family, again, brings that team together around that family. She also is a key person in just helping families sort out logistics, the real concretes of, "Where am I staying when I get here?"

Donna Lamborne: I had a room. You know, you can ask to stay and just put in ... you have to fill in a little slip every night to see if they can allow you to have a space there, and fortunately, I was able to stay.

Anthony Ramsay: There's actually showers on the floor, so even just taking a shower, you just feel refreshed and, you know, a little more energized.

Sarah Tabbutt, MD: One of the great things about working in the ICU is the patients and their families. The families are ... no matter what they're struggling with, if it's the baby, if it's something at home, you know, they're always a pleasure to work with. They really are. And it is such ... it's so rewarding to see kids get better and go home.

Why a Specialized Center?

J. William Gaynor, MD: When you have a child with any type of problem, particularly congenital heart disease, you want to be at a place that has expertise in all aspects of their care.

Sarah Tabbutt, MD: The number of babies that, or children or adults, even, that come through our Heart Program with congenital heart disease is huge.

Jack Rychik, MD: We have a breadth of experience here at the Fetal Heart Program that really is second to none simply because of the volume.

Susan C. Nicolson, MD: To be good at what we do, you have to have exposure to this group of patients on a routine and customary basis.

Sarah Tabbutt, MD: Because so many patients come through, we have the luxury of being able to provide cardiac-specific support systems.

Robert E. Shaddy, MD: We have a program here called the IMPACT Program. This stands for Immediate Postpartum Access to Cardiac Therapy. This program was developed to deal with that small subset of fetuses who need immediate care after birth. We are able to martial the entire forces of the Cardiac Center — interventionalists, anesthesia, nursing, surgery, whatever is necessary — in these infants who immediately need access to care.

Denise D. Donaghue, RN: Our Cardiac Intensive Care Unit, Cardiac Step-Down Unit, Cardiac ORs, they're only taking care of children, infants and children with heart disease.

J. William Gaynor, MD: You have to have expertise to know when to vary the management for a particular child.

Sarah Tabbutt, MD: So there's the usual stuff you'd read about in a textbook or that you would learn in your training, but every child is at risk for something happening that's not quite usual. Every child is at risk for having something on their echo, some part of their heart that isn't exactly what you would have expected. And those unusual things, if they're missed, can be a big problem for the baby and, if they're identified, can make the hospital course for the baby much better.

J. William Gaynor, MD: As much as we would like to think that medicine is a true science, experience and learning is very important in how you take care of these kids.

Jonathan J. Rome, MD: In the traditional hospital structure, all of these different people work in different departments or silos. But what we recognized is we really all have to come together as one group to give the kids and their families the best care we can.

Thomas L. Spray, MD: Having a team that works together to deal with children with congenital heart problems is a huge advantage.

Susan C. Nicolson, MD: It's a group the specialists in all the areas that are needed to take care of these patients.

Thomas L. Spray, MD: And that is not just surgery. That is cardiology. That is respiratory therapy. That is genetics.

Susan C. Nicolson, MD: Cardiac anesthesiologists, dedicated team of cardiac nurses

Jack Rychik, MD: Social worker, lactation specialists, child life specialists

Susan C. Nicolson, MD: And the entire support system that's necessary to provide anything that is medically or surgically needed to take care of a child with congenital heart disease.

Jonathan J. Rome, MD: Sometimes, fortunately, I think, the only treatment a child with a very serious heart disease needs is catheter therapy.

Robert E. Shaddy, MD: The Children's Hospital of Philadelphia has a very long legacy of innovation and new strategies for dealing with all kinds of diseases in children.

Jonathan J. Rome, MD: Cardiac catheterization started very much as really the first way you could look at pictures of the heart and diagnose heart problems. But the real breakthrough actually occurred here in Children's Hospital. Doctor William Rashkind, who was often considered the father of interventional catheterization, developed a technique that could save blue babies with transposition who often died because they just didn't have enough oxygen in their bloodstream. And he was the first one to use a catheter to treat a heart problem in children.

Robert E. Shaddy, MD: This procedure now allows us to open up the hole between the upper chambers, allow mixing of red and blue blood, and allow stabilization of the infant until we can move towards surgery.

Jonathan J. Rome, MD: From that, the field has really blossomed over the years.

Robert E. Shaddy, MD: And this is the history that CHOP has in so many different areas where there have been pioneers in not only heart disease, but in all areas of children's health.

J. William Gaynor, MD: We're almost unique in the world in having a cardiac anesthesia team.

Susan C. Nicolson, MD: Patients with congenital heart disease have unique and different physiologies than children who do not have structural heart disease.

J. William Gaynor, MD: We couldn't do what we do without cardiac anesthesia.

Peter J. Gruber, MD: The anesthesiologists are responsible for all the peri-operative care of the child, that is, getting the child to the operating room, making sure the child is stable within the operating room, and then immediately after the operation, working with the intensive care unit team to make sure the child is stable.

Susan C. Nicolson, MD: We're able to safely take care of them for both their cardiac procedures as well as any other surgical or diagnostic procedures where patients need sedation or anesthesia.

Thomas L. Spray, MD: Basically, over 500 people are involved in the Cardiac Center.

Jack Rychik, MD: The ability to bring all of these services together with the focus on the fetus as a patient is what's unique about the Fetal Heart Program.

Denise D. Donaghue, RN: It's the way the care is delivered in the Cardiac Center, as well.

Unknown Speaker: Taking care of the whole family and the whole infant, not just, you know, the specific heart malformation.

Denise D. Donaghue, RN: It's incredibly compassionate. It's incredibly patient-focused. So these just aren't really smart people; they're really smart people who are working together with the patients in the middle of all the decisions that we're making.

Jack Rychik, MD: All of this in order to create this smooth continuum of care from fetal life, from life in the womb, to life after birth.

The Promise of Research

Jack Rychik, MD: Congenital heart disease, by definition, is related to genetics in some way.

Unknown Speaker 1: It's really on the cutting-edge of research right now to try to understand this disorder.

Unknown Speaker 2: These are complex lesions which are probably not caused by any single gene or any single thing.

Sarah Tabbutt, MD: Even though mothers know the facts, there's always this sort of feeling of guilt, like did they do something wrong during pregnancy, which isn't true. And the more we can pull along the genetic component to this, I think that will also help in the understanding of how congenital heart disease develops.

Peter J. Gruber, MD: Once we figure out the precise mechanism, that is, the precise molecular mechanism by which these occur, we can both predict how people will do as well as design therapies in order to try to cure these diseases before they occur.

Jack Rychik, MD: The heart is essentially fully formed by 6 to 8 weeks' gestation. The signals that determine the normal development, completion of development of the heart, are the genes.

Elizabeth Goldmuntz, MD: Our genes are what they call the blueprint for what we're going to look like. So the program for cardiovascular development is set once the genes are there to make the embryo, if you will. They direct how the embryo is going to develop. They direct how the fetus is then going to continue to develop.

Thomas L. Spray, MD: If you think of all the billions of things that have to happen, one right after another, to have a baby develop to what we consider to be normal, it's just amazing to me that more things don't go wrong. And most congenital heart defects are because, as the heart is forming in the first month or so of pregnancy, certain parts that come together come together in a slightly off-kilter way.

Elizabeth Goldmuntz, MD: Early, early on, when the embryo is first a cell and then divides and then divides some more, you get to a stage where there are actually cells that don't look anything like a heart yet but that have committed themselves to becoming a heart.

J. William Gaynor, MD: It begins as a single tube which rotates and folds to form the four chambers that we see and then the blood vessels that come off, going to the body and to the lung.

Thomas L. Spray, MD: So you can have a heart defect develop because the partition between the two sides of the heart, instead of forming at a certain angle, forms at a slightly different angle. And that's all it takes to create one of the more common types of congenital heart disease called tetralogy of Fallot. When the artery of the body and the lungs form, they form and separate and they twist against each other. And if they don't twist just right, you can have several other types of congenital heart defects form. So since all of these things are interrelated, it's not clear that there's a specific gene defect that causes each one of these congenital heart abnormalities.

Elizabeth Goldmuntz, MD: Instead, there are going to be a lot of different genes and a lot of different changes in those genes that contribute to the risk of having a child with a heart defect.

J. William Gaynor, MD: Taking care of these children is a unique opportunity to learn why they have the congenital heart defect. What can we do to make them better, not just in the short-term but in the long-term.

Susan C. Nicolson, MD: One of the obligations as well as the privileges of having a Center like this is to identify the unanswered questions in all our specialties and to work collectively with the families and with our colleagues to get these questions answered.

J. William Gaynor, MD: The research effort, just like everything else, is a team effort.

Peter J. Gruber, MD: Everybody from clinical researchers who collect detailed data in the intensive care unit as well as outpatient clinics, to research nurses who look at all the intermediate type of information you can gather from an operating room, to people like myself who study these type of diseases in the laboratory, as well ...

J. William Gaynor, MD: And it's not just the nurses, the physicians, the investigators. It's the families and the children are an integral part of that team.

Peter J. Gruber, MD: I'm amazed on a daily basis of the strength and commitment of families, not only to their children but to the research at CHOP.

Sarah Tabbutt, MD: You talk to the families. It's just really amazing how they're really engaged in the heart disease and moving the field forward.

Andrea Thrush: She's as healthy as she is today because there have been other kids that have agreed to be in studies.

Sarah Tabbutt, MD: And so there are a lot of research projects. Some of them are very minor, just a small drop of blood so we can try and figure out why the children have heart disease. Some of them are more elaborate

Thomas L. Spray, MD: So that the child can be followed during their development. That's takes a lot of commitment on the part of families.

Robert E. Shaddy, MD: What we're doing now is a result of ongoing investigation, ongoing ability to try new things and looking at different ways to treat children with heart disease.

Elizabeth Goldmuntz, MD: The Center for Applied Genomics was set up at CHOP and is a very high throughput genotyping facility that gives us the opportunity to have insight into these diseases that very few places in the world will really be able to do.

Jack Rychik, MD: To identify specific genes and say gene X or gene Y is going to result potentially in a difference, and then observe that difference.

J. William Gaynor, MD: If we can identify a specific problem, then maybe we can treat you differently.

Elizabeth Goldmuntz, MD: So that the worst case scenario doesn't occur, but maybe something that's a little bit more amenable to therapy and to a good outcome could occur.

Thomas L. Spray, MD: I think we'll get to a point where we can identify certain genetic features of each individual child that will enable us to modify how we do an operation.

Sarah Tabbutt, MD: To really focus on protecting the brain through this vulnerable period.

Susan C. Nicolson, MD: To look at each anesthetic as custom-tailored.

Elizabeth Goldmuntz, MD: To try to take the most novel, far reaching, cutting-edge approaches to provide a wonderful outcome and future for the children and families.

Topics Covered: Congenital Heart Disease (CHD) in Children

Related Centers and Programs: Fetal Heart Program