Heart Conditions

Down Syndrome Center at UPMC Children’s Hospital of Pittsburgh

Dr. Linda Russo, a pediatric cardiologist at the Heart Institute at UPMC Children’s Hospital of Pittsburgh talks about the prevalence of heart disorders in the Down syndrome patient. Some are minor while others are more severe.

Released: 1/16/14


Dr. Vellody: Hello everyone. Welcome back for our next Down Syndrome Center of Western Pennsylvania podcast. Today, we are going to begin a two part podcast on cardiac issues in Down syndrome. My guest today is Dr. Linda Russo who is a pediatric cardiologist here at Children’s Hospital of Pittsburgh. Dr. Russo, thanks for joining us today. Could you please share with us a little of your training background? Could you also share a little of your personal story of why you decided to become a pediatric cardiologist?

Dr. Russo: Sure. I did my medical training at Creighton University in Omaha, Nebraska. I also did my pediatrics training there. Then I came here to Pittsburgh to do my pediatric cardiology training. I got into pediatric cardiology most likely because my older brother has Down syndrome. He also had four heart surgeries. He had a combination of an AV canal and Tetralogy of Fallot. That combination is seen pretty much only in Down syndrome.

Dr. Vellody: Great. Thanks for that background. As a sibling to someone with Down syndrome myself, it’s always nice to see another person who got into the medical field because of their brother or sister with Down syndrome. Cardiac issues are usually one of the first things that people think about when thinking about someone with Down syndrome. Can you tell us a little bit about how common heart conditions are in Down syndrome?

Dr. Russo: About 1/100 live born children will have some kind of heart condition. It can anything from minor conditions to something major. In Down syndrome, however, its 45/100 or 50% of 100 that have some kind of heart condition. Again, some are minor and others are more severe.

Dr. Vellody: Thanks. Could you run us through some of the more common heart conditions that are seen in Down syndrome.

Dr. Russo: The child with Down syndrome can have any of the heart conditions that any other child would have but some are more prevalent. A complete AV canal defect which is also called an endocardial cushion defect by some of the older literature is one of the more common things that we’ll see in Down syndrome - almost 50% of heart disease. They can also have an atrial septal defect which is a hole between the top chambers of the heart or a ventricular septal defect which is a hole between the bottom chambers of the heart. Those are most common kinds of heart conditions that are a hole in the heart. There are also babies that have what we call cyanotic heart disease and they appear blue. The most common condition in Down syndrome that causes that is Tetralogy of Fallot. That’s also the most common cyanotic condition in any child.

Dr. Vellody: Thanks for that summary. You had mentioned that AV canal defects are more common. For our listeners, they can also be called an AV septal defects or AVSDs. Can you tell us what exactly those are?

Dr. Russo: An atrioventricular septal defect (or AVSD) . . . The core of the heart is made up of specific tissue and that does not develop normally. So the lower portion of the wall between the upper chambers of the heart doesn’t develop and the upper portion of the lower chamber of the heart doesn’t develop. This also involves the valves as well. There’s usually one valve that empties into the ventricles but there’s supposed to be two separate valves. So a valve repair is also necessary in this condition.

Dr. Vellody: Can you clarify something then for us? If you don’t mind, let me preface this question with a little review on the normal anatomy of the heart for our listeners. The heart is typically divided into four separate chambers, keeping the blood with oxygen separated from the blood that is low on oxygen. The low oxygen part of the heart pumps the blood to the lungs to get it new oxygen. The oxygenated part of the heart sends the blood to the whole body. Keeping things separate is important so the two sections don’t mix. Are you saying that there can be complete mixing of all the blood in the heart in someone with an AVSD?

Dr. Russo: Yes, the whole central core of the heart is basically absent and there’s no walls dividing things. If you think about a room that’s wide open . . . so there’s mixing of blood between the right and left sides of the heart.

Dr. Vellody: Ok. So in a baby born with one of these conditions, what kind of symptoms might they have?

Dr. Russo: In the case of an AV septal defect, ASD, or VSD, they often don’t have any symptoms right off the bat. Sometimes it takes a few months for that to develop. The absence of symptoms doesn’t mean that you’re out if the woods. They still need evaluation in the first month or so of life. If the condition is Tetralogy of Fallot, they appear blue or cyanotic. That is usually picked up much earlier, especially with Pennsylvania having testing requirements for oxygen saturations before they leave and go home. So sometimes that’s picked up earlier. The blue discoloration is the main symptom of that condition.

Dr. Vellody: Thanks. Could you explain to our listeners why the children not only may have no symptoms but even their doctors, even their cardiologists, may not detect a heart murmur when listening with their stethoscopes?

Dr. Russo: Well, in the first couple of months of life, the blood pressure in your lung arteries is high and it’s supposed to be that way before you’re born. Sometimes it doesn’t drop. That can mask the symptoms and mask the mixing of blood. An absence of symptoms doesn’t necessarily mean there’s no problem. The other thing with a patient with Down syndrome is that there’s a little bit higher incidence of pulmonary hypertension compared to children without Down syndrome. We think that an unrepaired hole in the heart can make that worse faster. We would want to see a patient earlier and would even consider repairing somebody sooner with Down syndrome if we thought that the hole was big enough to be causing what we call volume overload or enlargement of the heart.

Dr. Vellody: Thanks. If there are no symptoms in many of these heart conditions, especially in the beginning, what is the recommendation for how to find out about them early in life? I mean, you wouldn’t want to have a baby at home with a heart condition if you didn’t know about it.

Dr. Russo: We recommend that all children with Down syndrome have an echocardiogram in the first month of life for sure. It doesn’t necessarily need to be in the first couple of days of life unless that’s something that’s possible to do. All children should have an echocardiogram by a pediatric cardiologist.

Dr. Vellody: You mentioned something right there that I think is important to clarify. You said that a pediatric cardiologist should do the echocardiogram. For many families, there may not be a pediatric cardiologist easy available. What do you recommend in those situations?

Dr. Russo: We definitely want someone who reads pediatric echocardiograms to do the reading, especially a sonographer who is trained in pediatric echocardiograms. However, we are developing a strong tele-cardiology program, especially with a lot of the hospitals in the western Pennsylvania area. They can actually do the echo at their hospital and send it to us digitally. We review the studies. If further imaging is needed, then you can make the trip down to Pittsburgh.

Dr. Vellody: That makes sense. Thanks. Now, most pregnant mothers will have had at least one ultrasound during the pregnancy. If the heart looks okay on that ultrasound, do they still need the echocardiogram after they’re born?

Dr. Russo: There are several levels of sonograms that can be done prior to a baby being born. The obstetrician has several that they do. They check for making sure there’s four chambers of the heart, making sure they don’t see any major abnormalities. But a pediatric cardiologist can actually do a fetal echocardiogram which just looks at the heart if there’s a concern. A fetal echocardiogram is not enough. We still recommend an echocardiogram after the baby is born because a fetal echocardiogram is good at picking out big problems. A small hole in your heart before you’re born may be something that we have to deal with after you’re born. We can only tell after delivery whether it’s clinically an issue.

Dr. Vellody: Ok. So now walk us through the next steps. If an echocardiogram shows a heart condition like an AVSD that needs to be surgically repaired, what are the next steps? Do the kids need to have emergency surgery right then and there?

Dr. Russo: The good news is that it’s pretty rare to need emergency surgery or anything suddenly, especially in an asymptomatic child. Most of the time, if the surgery is needed, it will be at a couple months of age (often between 4 and 6 months of age). It depends on the condition as well. The surgery for an AVSD is typically done at 4-6 months of age. That’s when the surgeons prefer. They believe they can do what they believe is their best surgery with that condition.

Dr. Vellody: Got it. Thanks. Now, not all babies with a heart condition found at birth need surgery at all. Could you please run us through a general idea of which cardiac conditions need to have surgery and which ones likely do not?

Dr. Russo: There’s some conditions where . . . say for example and atrial septal defect. Just because you have an atrial septal defect doesn’t mean you need surgery. In fact, they can get smaller and sometimes close on their own. That’s the same with a ventricular septal defect. An AV canal, however, is almost always going to need a repair if it’s the typical type of AV canal that we see in Down syndrome. There are variations on that that sometimes avoid surgery, but most do need a surgery if they have an AV canal. Tetralogy of Fallot, likewise, always needs a repair at some point but again it is usually deferred until 4-6 months.

Dr. Vellody: Thanks. Now, I’ve seen some babies who clinically cannot wait until the 4-6 month period to get their repair. Could you run our listeners through what types of symptoms might arise that would make an earlier surgery necessary?

Dr. Russo: In the case of an AV canal, a VSD that’s large, or even an ASD, the symptoms are usually what we call “heart failure.” What heart failure means is that the heart can just not efficiency pump blood to the body. It’s squeezing fine. It’s just not efficient. The symptoms you get are the symptoms of too much blood going to the lungs so they will breathe faster. They will have difficulty eating because it’s difficult for an infant to eat and breathe at the same time. Eventually it could lead to poor weight gain and even weight loss. We don’t want to let a baby struggle with poor weight gain and failure to thrive. We would fix it sooner if we couldn’t medically manage that.

Dr. Vellody: And what about for a baby with a cyanotic or “blue” condition like Tetralogy of Fallot? What symptoms might they have to suggest a need for earlier surgery?

Dr. Russo: Well, Tetralogy of Fallot tends to not have any feeding problems but over time the cyanosis or the blueness of the baby will get worse. That blueness is an indication that the oxygen level is dropping. We don’t want that to get too low. If we notice the blueness is severe, we would fix it sooner rather than later.

Dr. Vellody: Thanks for that information. I think our listeners now have a good sense of the cardiac issues that can develop in the newborn period. What cardiac issues can develop later in life? There’s no guideline statement that says that an echocardiogram needs to be repeated really at any point after the newborn period. What are your recommendations to families?

Dr. Russo: There are reports of mitral valve prolapse and aortic valve insufficiency developing later in life in Down syndrome. We do recommend a follow-up. There’s no exact time that this should be done. I do recommend for my personal patients that maybe when they’re deciding on the transition from pediatric to adult care that a follow-up echo be done. Of course, any time there’s symptoms of concern, it should be considered to repeat the echo as well.

Dr. Vellody: Ok. Can you tell our listeners what those conditions are and how they might present?

Dr. Russo: Mitral valve prolapse can lead to leaking of the mitral valve. Of course, aortic regurgitation is leaking of the aortic valve. Again, those can cause inefficient blood flow, exercise related symptoms, shortness of breath, a new murmur, a click on exam can sometimes indicate mitral valve prolapse. There are several things that could suggest that there is a problem. Any changes in the physical exam over time should be evaluated – consider a new echocardiogram.

Dr. Vellody: That’s helpful to know, thanks. Now, one last question that often comes up. There is a recommendation for some of the patients for something called spontaneous bacterial endocarditis prophylaxis (SBE prophylaxis). Can you explain to our audience what that is and who needs to be treated for it?

Dr. Russo: Sure. Bacterial endocarditis is an infection of the bloodstream that ends up causing an infection of the heart so that the bacteria stick to the valves or something in the heart. In 2007, the recommendations changed so not as many people need SBE prophylaxis as we gave it in the past. In general, if you haven’t had a heart surgery, you don’t need SBE prophylaxis at this point. If you’ve had surgery and there’s a patch material in your heart or an artificial valve or some other piece of material that’s been placed, you may need SBE prophylaxis. If you’ve had endocarditis (an infection of your heart), you will need it for the rest of your life. The most important thing to know about endocarditis is that we’re feeling more and more that good dental hygiene is more important or just as important as your underlying heart condition. Many endocarditis cases, the people have normal hearts. So good dental hygiene is really important. It may be a challenge sometimes, my brother included, to get a dental exam and really take care of the teeth. It’s key – it’s very important to protect the heart.

Dr. Vellody: That’s really important information for our families. Thanks. Well, Linda, that ends our time for this podcast today. I know we covered a lot of topics that our families frequently ask about regarding heart conditions in Down syndrome. Thank you so much for joining us today!

Dr. Russo: Thank you very much for having me.

Dr. Vellody: I’m sure we’ll ask you to join us again in the future if there are more questions from our listeners on cardiac issues . Thanks again. And thanks, as always, to our listeners. Please be on the lookout for our next podcast on cardiac surgeries in Down syndrome. Until then, bye bye.

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