About the Fetal Heart Program

Transcript: The Promise of Research

Transcripts in This Video Series
Fetal Heart Defects Referral and Diagnosis Planning for Delivery A Special Delivery Life in the CICU Why a Specialized Center? The Promise of Research

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Unknown Speaker: Congenital heart disease, by definition, is related to genetics in some way.

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

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

Sarah Tabbut, 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 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 had come together, come together in a slightly off-kilter way.

Elizabeth Goldmuntz, MD: Early, early on, when embryo is first a cell and then divides and then divides some more, you get to a stage where they're 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 lungs.

Thomas L Spray, MD: So you can have a heart defect develop because of the partition between the two sides of the heart -- instead of forming at a certain angle, it 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. 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.

Unknown Speaker: 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 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 is not just the nurses, the physicians, the investigators, it's the families and the children that are an integral part of that team.

Unknown Speaker: 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.

Unknown Speaker: The families today are real pioneers.

Sarah Tabbut, MD: They're really engaged in the heart disease and moving the field forward.

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

Sarah Tabbut, 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 do 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 takes a lot of commitment on the part of families.

Unknown Speaker: One of the things that is crucial for our understanding of outcomes for children with congenital heart disease is our ability to follow patients over the long run.

Elizabeth Goldmuntz, MD: The Center for Applied Genomics was set up at CHOP and is a very high through put 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 Tabbut, 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.