Genetics in the Congenital Heart Defect Community (Remastered)

Congenital heart defects, the #1 birth defect, affect at least 1 in 100 babies born throughout the world yet when asked what causes heart defects, most doctors have had to admit they don’t really know. Many doctors tell parents that their children’s heart defects are “flukes of nature.” Occasionally heart defects are linked to particular diseases mothers were exposed to while pregnant, drugs they took or common to a family, but most of the time, doctors have had no clue what has caused complex congenital heart defects . . . until now. Finally, thanks to the advent of new tests and dissatisfied with vague terms like “flukes of nature” doctors are delving deeper into the actual causes of our world’s #1 birth defect – heart defects. Listen to Episode #5 of Heart to Heart with Anna to find out what kinds of genes can cause heart defects, who should seek genetic counseling and how genetic counseling can save a person’s life in this show: Genetics in the Congenital Heart Defect Community.

Transcript

spk_1:   0:00
welcome friends to heart to heart with Anna. This is your host damage Dworsky and I'm very excited about today's show. The Genetics of Congenital Heart Defects. This is the fifth episode of Season one, and it originally aired on December 12th 2013. Today's guests are Heart Mom, Jennifer Reed, Dr Angela Shirley from Tessa Rate Genetics, CHD Survivor, Benn y's book from the Heart Hope Foundation and Dr Woody Benson from Children's Hospital of Wisconsin. And we will be discussing what new genetic tests are available to assist with the diagnosis of congenital heart defects and other problems. Who should have genetic testing and how genetic testing can save lives.

spk_3:   0:42
Welcome

spk_4:   0:48
to Heart to Heart with Anna featuring your host Anna Dorsey. Our program is a program designed to empower the CH D or congenital heart defect community. Our program may also help families who have Children who are chronically ill by bringing information and encouragement to you in order to become an advocate for your community. Now here is Anna Gorski.

spk_2:   1:17
Heart, heart, Anna, a shell for the congenital heart defect community. Our purpose is to empower members of our community which resource the support and add, because the information to George Plateau Edwards analogy OH syndrome will do all of these finger on pat in common. They are all chromosomal disorders that have a 75% for higher incidence of congenital heart defects is gonna be a day with them. There are, in fact, 15 different recognized chromosomal disorders that have a 25% incidents or higher oven associate a congenital heart defect For some of these syndromes, heart defect is not the major source of concern because so many other factors are even more worrisome. Thanks to the Human Genome Project, we are finally discovering how changes at the chromosomal level may be the cause of heart defect. What those changes at the molecular level due to the human body and hopefully, in the future, we'll be able to use science to combat these disorders before the afflicted babies are even born. Today, our topic is genetics. In the congenital heart of that community, PhDs effect at least one in 100 births, according to the Children's Heart Foundation. Some researchers believe this may be a very conservative estimate. Our guests today are Jennifer Lied and her geneticist, Dr Angela Shirley Benn Y's Book of Heart Hope Foundation and professor of pediatrics and director of pediatric cardiac research at Children's Hospital. With constant structure would have been, too. Jennifer Reed is a coordinator at Manda. Little Hard to Dallas, Texas Jennifer Reed is currently a senior at the University of Texas at Tyler and a special education instructional aid, a camp in high school in Canton, Texas. She's a mother of two girls. Attlee, five years old and healthy, and Olivia, 18 muscles with hyper classic left heart syndrome. Quotation of the aorta. Bilateral superior Vena cave. Well, good of goodness. I knew I was gonna stumble over this, but I'll have her tell me about later. This is one of her birth defects. It's very complicated. Scoliosis, gastropub Stop the Geo Reflects disorder, also known as scourge. The active airway disease, chronic lung disease and 22 to 11 points to distill delusion. Jennifer geneticists have been working hard with her to establish a genetic connection between her daughter's heart defect and a genetic condition in her family. They're criminal duration is extremely rare, and doctors surely is working on determining if there is a genetic connection between Hypo Classical start syndrome and their birth defect. Dr. Angela Shirley is a pediatric clinical geneticist. Cheese out in love with genetics, is a sophomore in high school and never looks back. She received her bachelor's degree from the Wani, the University of the South, in her M d from the University of South Florida College of Medicine. Dr. Angela surely completed a pediatric residency in Cincinnati and Genetics Fellowship at Baylor College of Medicine in Houston. Her board certifications Aaron pediatric Clinical Genetic Molecular genetics. She also completed an Essex Fellowship at the University of Chicago. Dr. Angelou. Shit Really Practice is a Test Right Genetics in Dallas, Texas, and his adjunct faculty at University of Texas Southwestern. She helped care for persons of all ages with birth defects, intellectual disabilities and genetic conditions. Just works in public health. Genetics at the state and national level, including the process to expand screening of enabling the genetic diseases and birth defects. Will meet Ben Wise, Book of the Heart Hope Foundation and Dr Woody Benson, professor of pediatrics and director of pediatric cardiac research at the Children's Hospital, with Constant. Later in our show, welcome to the fifth episode of Hart to Hart with Anna, Jennifer and Dr Angela Surely Thank you. So, Jennifer, you told me that you have a family history of How do you pronounce it on?

spk_6:   5:09
Yes. Are tall grass houses that's

spk_2:   5:11
finally got it right. Couldn't do it any extra. But our thread proposes, which is a condition I never heard of before I met you. So can you tell us what it is? And who in your family has been infected with it and also how it's treated

spk_6:   5:24
well, our telegraph posts is the meaning of that. Word actually means crooked or stuck joint. So basically, ours is a distal form of Arthur Kopassus, which effects the outer limbs like our hands and feet. Elbows, knees hit. And we can go back as far as my great great grandfather to find evidence that he had our program hostess as well. It goes along my father's side. My father has it. He has a sister and a brother that has it in each of them have one tile that shows symptoms of possibly having Arthur proposes. And then my sister and I both have it and more the only Children that my father has. So both of us got it. And then I have two girls and only one of my daughters has it.

spk_2:   6:13
Wow, that's just amazing. So, having that treated

spk_6:   6:17
my father and back, they were never treated for it. We first started having treatment with my sister. She was a patient at Texas, got a shot hospital for Children as well as I, starting at two weeks. Once they discovered that we had the condition and I've had six ankle surgeries to reconstruct them, and my sister has had cosmetic reconstruction surgery on her hand. But basically there's not really a lot other than bracing or cosmetic type surgeries that you can do with the particular form that my family has taken really only go and try to reconstruct the joint toe remedy. That doesn't always work.

spk_2:   6:58
That's an amazing situation. So I'm guessing that since your grandfather and your father and it sounds like a bunch of uncles were affected by it, that they were looking at that as a possibility with you and your sister.

spk_6:   7:12
Yes, they didn't actually diagnose any of us with it until I was close to being a teenager. I may have actually been a teenager when they did They just knew we had something. And I was actually the one that went through all the testing. Actually get that diagnosis, which included some shock therapy in needles to see how our muscles moved with everything. So there wasn't ever really a diagnosis for it until I was about a teenager.

spk_2:   7:37
Wow. Wow. You know, it amazes me how far we've come in our knowledge of the human body just in the last several decades. It really is amazing. So were you surprised to discover that your daughter had hypoplastic left heart syndrome in addition to this other birth defects? Well, we were very

spk_6:   7:55
surprised by both. We actually saw a period biologist during my pregnancy because we wanted to rule out whether or not Olivia was going to have our program poses. If they did show times that she had it, they needed to have some specialists there at her delivery because

spk_1:   8:14
it could be

spk_6:   8:14
hard being born with the art program poses. So it was ruled out when I was pregnant with her, and they did fetal echo on her heart to see if there was anything there and her apple plastic left heart syndrome actually developed after 31 weeks of pregnancy. So we didn't find out until about 10 hours after she was born in May of 2012 that she had either the Hubble plastic or the art program poses.

spk_2:   8:43
Wow. Well, you have your geneticist along with Dr Angela, surely, And so I'd like to turn some questions to her and ask her doctor, Shirley, can you tell us what kind of testing you've done with Jennifer's family? She said that there wasn't even a test available until she was a teenager. So can you tell us what kind of testing is available today?

spk_1:   9:01
Sure, but you need

spk_6:   9:02
to remember is that genetic testing and genetics in general has undergone a revolution starting in 1989. The Human Genome Project started a couple of years later, but the first gene that was found by the process we now typically do with Gene for cystic fibrosis, and then it's snowballed from there. So it's not at all concerning that someone who is more than 25 years old would have had no genetic testing at any time because the test simply didn't exist. Uh, the testing that we do today even has made obsolete testing. We did as recently as five years ago, so it changes all the time. The test that we do today in a child born with a congenital heart defect, is a test called a chromosome micro array. The way I explain it is that if looking at the genetic material through a microscope and you can see chromosomes through a microscope is like looking at the city from an airplane, I can tell you a big stuff. But I can't tell if my mailman's come. Doing the chromosome Micro array is like knowing what mailbox have mail in them. Oh, and okay, so it's much more detailed, but it's still not the same as reading the alphabet of a gene. Looking at a specific gene to stay with my analogy is like going to my mailbox pulling out my water bill and seeing what I oh, it's looking for a specific piece of information in a specific place. What we start with now is the chromosome micro array, the mailman test Mom. That is now pretty much the standard test we do in any child who's born with a birth defect, but in particular with congenital heart defect. As you mentioned at the top of the show, we're looking for things like the DeGeorge syndrome and other changes that we know are associated with heart defects. So that's the first half. But with any medical condition, including birth defects, we always start in the same place, which was with a history and a physical exam. And that's where we started with Olivia, Just like we start with every other patient is tell me the story of the patient. Tell me about the pregnancy. Tell me about the family. Tell me about how the child has done since she's been born. And now we do a physical exam in addition to the heart defect. What else is going on? And you've already heard in this case there was the Arthur If I post this, but we have but unusual combination. I have a child with Arthur Cry Post, which is obviously something that has run in the family but with, in this case, a congenital heart defect. As far as I know, far as any of us know, Olivia's the only person in the family who has a heart problem. So that's the process. History, physical exam and then we start with general testing. And then if there's anything else that that story so far tells us we go for more specific

spk_2:   11:57
Wow, it's very involved then. So this is not the kind of testing that just anybody would have who should seek genetic counseling?

spk_6:   12:06
Well, you have to understand that I have a biased opinion about this, Um, but the general suggestion is that anyone to have a family member of a birth defect or anyone who has a problem that seems to run in the family deserves a chance to talk to someone who's an expert in that field. And that's sort of where I come from. There certainly are genetic conditions, which pediatricians and internist are incredibly comfortable dealing with the involvement of a geneticist, maybe a touch base with this person, and then go back if there are questions. But it doesn't need to be an involved process. And the easy example in Pediatrics is down syndrome, Um, which is very common, and there are good practice, management's and recommend testing and management of those kids. And most of the pediatrician's these days are very comfortable having Children with Down syndrome and their practice you know you don't need a geneticist after the chromosomes, other than to talk about after the chromosomes are back with more involved or more unusual conditions. Having genetics involved is basically having a diagnostician involved. But

spk_1:   13:14
you have to remember,

spk_6:   13:15
is that the heart doctors are looking at the baby's heart, and the orthopedic doctors are looking at the baby's hands. And then I'm going to just make stuff up. The eye doctor is looking at the baby's eyes, and different doctors are looking at different pieces of the patient, like the pediatrician, the geneticist, just one of those people that tries to tie everything together. And our goal in general is, too. If we can put enough clues together, the puzzle pieces together to see what the picture on the top of the box?

spk_2:   13:48
Absolutely. It's like you're a detective

spk_6:   13:50
gets done precisely.

spk_2:   13:53
Wow. Well, I hope I can do some more shows later that deal with genetics, because this is a fascinating subject to me, and I can see you have a lot more that you could share with our listeners, but unfortunately we're going to have to go to a commercial break. I want to thank Jennifer Reed and Dr Angela surely being guests on the show as appreciate your sharing your experience in your expertise with us, we will go for a short commercial break, and when we return, you'll get a chance to meet Ben Wise book, find out how he faced death repeatedly and why he thinks genetic testing is so important that he's willing to put his money where his mouth.

spk_4:   14:36
Anna Dworsky has written several books to empower the Congenital Heart Defect or C H D community. These books can be found at amazon dot com or at our website www dot baby hearts press dot com. Her best seller is The Heart of a Mother, an anthology of stories written by Women for Women in the CHD community. Ana's other books, My Brother Needs an Operation, The Heart of a Father and Hypo Plastic Left Heart Syndrome. A Handbook for parents will help you understand that you are not alone. Visit baby hearts press dot com to find out more. Anna Dworsky has spoken around the world at congenital heart defect events, and she is available as a key note or guest speaker for your event. Go to heart to heart with anna dot com to learn more about booking Anna for your event. You can also find out more about the radio program. Keep up to date with CHD Resource is that information about advocacy groups as well as read Ana's Weakly Blawg. Anna wants you to stay well connected and participate in the CHP community. Visit heart to heart with anna dot com. Today you are listening to heart to heart with Anna. If you have a question or comment that you would like addressed on our show, please send an email to Anna Gorski at Anna at heart to heart with anna dot com. That's Anna at heart to heart with anna dot com Now back to heart to heart with Anna Welcome back to our show. Heart

spk_2:   16:17
to Heart With Anna. A show for the congenital heart defect community. Today we are talking with Jennifer Reed and her geneticist Dr Angela Surely Ben Wires Bucks of the Heart Hope Foundation and professor of pediatrics and director of pediatric cardiac research at Children's Hospital of Wisconsin. Dr. Woody Benson. We just finished talking with Jennifer, Read a matter who thought genetic counseling for her family and her gin at a counselor, Dr Angela Charlie. Now we will turn our attention to Ben Wise Book. On July 18th 2000 and 10 Ben Wise book suffered his first episode of sudden cardiac arrest, or S T. A. His wife, Miranda, saved his life, then spent five days in a coma and underwear hurt surgery, but managed to walk out of the hospital under his own power over the next three years, then survived over, AH, 140 separate episodes of S. T A. He came close to death several times, suffering sepsis, kidney and liver failure and six heart surgeries. One night, a rabbi prayed over Ben, expecting him to die. Genetic testing and research helped save Ben's life. It also reassured Ben and Miranda that their son would not have the same genes that caused Ben's SDA. Armed with this information, Benham around up were able to have more Children without fear of F D A. In 2000 and 13 Ben and Miranda cofounded the Heart Hope Foundation. They wanted to provide other families with the same access to the best genetic ater and preventative medicine available. They wanted to fund genetic cardiac research to eventually eradicate SDA will also made. Dr. Webb is, um, professor of pediatrics and director of pediatric cardiac research at Children's Hospital, Wisconsin. Later in our show, they're welcome to heart to heart. With Anna been

spk_0:   18:04
that's my pleasure. And thank you for having me.

spk_2:   18:06
Well, it's my pleasure to talk to you because I've never met anybody who has endured so many separate episodes of S t A. When did you suffer your first episode? And can you tell us what you remember? It

spk_0:   18:18
was July 18 2010. At that time I was 37 years old. What I can remember, my wife and I had just returned from our honeymoon. We arrived late at night. We were so tired. I left my keys in the front door. We went to bed literally dreaming about our love and our life future together. I woke up on a lawyer, so I started to text a client and in the middle of tax I felt sleepy and I decided to give myself a nap. I lay down on the bed and I woke up five days later in the hospital. My wife, fortunately she had gone downstairs and then she decided to come back up in the bedroom and she saw me fall. I gasp for breath. My eyes rolled back into my head. In some point, she said, I stopped breathing. She picked up my cell phone, which I had dropped on the bed. She called 911 in about three or 45 minutes. They arrived at our house. They pulled me off the bed. They shot me six times, and fortunately they put me into hypothermic coma. And in about five days I woke up to my wife's voice saying that there was a problem with my heart and that they didn't know if I had suffered brain damage. And I fear that, of course, and that should get Pan, she says. But you're a lawyer, Ben. You had brain damage going into the hospital, so not to worry. After that, they took me to a different hospital in Ohio. They implanted at that time, which was an experimental internal defibrillator, and I think at that point was the 14th person in the country to receive the device 200 in the world. The device malfunctioned over next year and 1/2 to the point that one night I had 91 firing in six hours. There's so much energy that I actually had burn marks on my back and chest from the inside out. They implant two different defibrillators, none of which seemed to stop the current. So my life and I thought out experts across the world. We spoke to geneticists in Italy. Finally, a geneticist in Ohio, Doctor Peter Moeller, and a genetic counselor, Amy Sturm. They evaluated my DNA, and they decided that they had never seen what I had. They couldn't diagnose exactly what was causing my sudden cardiac arrest. They match my entire genome, the first time that the Ohio State University Medical Center has mapped the genome of a heart patient. All three billion base pairs. They found one letter, 11 protein, one mutated protein out of place. They then tested the DNA of my family. My mom died of sudden cardiac arrest 10 years ago, and they definitively diagnosed that this mutated gene had caused the irregularities in my heartbeat. The discovery led Ben to understanding of my own personal biology and help myself transfer potassium and sodium and calcium across the membrane on the cells this has led to new treatment, drug treatment, using an orphan drug use for an entirely different disease. This is the first time I have been told that this drug has been used for a heart patient. So essentially, I'm in a trial of one across the country, and this seems to have quelled the sudden cardiac arrest episodes.

spk_2:   21:11
Wow. So

spk_5:   21:12
you're a

spk_2:   21:13
pioneer. Who, me? Yes. You

spk_0:   21:16
know, I'm just the lucky guy who is too stubborn to die

spk_1:   21:20
and the parents

spk_0:   21:21
of pioneers. All the credit is owed. And due to the incredible researchers and brilliant scientists and genetic counselors and the lucky few of us to survive sudden cardiac arrest is, you know, 95 to 97% of people who suffer sudden cardiac arrest died before they get to a hospital. So I'm not a pioneer. I'm just lucky. Well, I

spk_2:   21:41
think you're more than just lucky. I think God has a plan for you. And I think what you're doing with the Heart Hope Foundation is part of that plan. I love how you've taken something that could have just been totally devastating. And instead of letting it traumatize you, you turned it into the vehicle for doing good. Why don't you tell us a little bit more about what you're doing with this Heart Hope Foundation?

spk_0:   22:01
Thank you. The mission off the Heart Whole Foundation is to eradicate inherited and cardiac diseases through genetic testing and innovative research. And the way we pursue that is we provide subsidies to individuals to offset the out of pocket costs that they need to get their genetics tested. As you know, it's very expensive in some cases to get genetics tested and a lot of people most people don't have the out of pocket funds to pay for those out of pocket costs, the Heart Whole Foundation book And on the other side, the second program is funding micro grants to the best ideas in game changing research for cardiac diseases such as two researchers who don't always get the limelight don't always get the funds, and the game changing ideas can go to medical researchers that can go to genetic counselors. They also can go to software engineers and other people for proposing game changing ideas to read, find the finding solutions for inherited cardiac diseases. If I could give a plug to our website, and I don't appreciate being able to do that. Absolutely. Hartal Foundation can be found at www dot heart hope foundation dot org's Just Like It Sounds Hard Hope foundation dot org's We can be found on Facebook and that is at facebook dot com. Flash Heart Hope Foundation. We currently taking donations and we would be happy to speak to anyone who is on the same mission as we are to eradicate heart disease is using genetic research, and I can't thank you enough for having me on the show today.

spk_2:   23:35
I'm so excited to learn that the hard help foundation exists and it will be only to it on the Boys America Heart Mom, It's channel page that has a heart to heart with Anna Show on it. So there's a variety of places that people will be able to find you, and I'm so happy that my show can be one of those vehicles to get the word out about what you're doing. I'm stunned at what she's gone through and that it seems like a very rare Hopefully this is very rare incident that has happened to you. I've heard a belong to T syndrome, which I now is genetic, and that has problems with arrhythmias, which can cause somebody to die. That you're sounds different. But a long T T syndrome.

spk_0:   24:13
Yes, it is different. In fact, it's different than any known disease. After about a year and 1/2 my electric cardio physiologists and my cardiologists sat me down and they said, We don't know what you have And I said, Well, how many people United States do you know, have what I have? And they said nobody. And I said, Well, surely somebody in the world you've seen what my electrocardiogram looks like Surely somebody across the world And they said, We really don't know that sparked us. Look for the genetic cause. I have something that, like a lot of people out there, have a unique genetic makeup would mind of. These people just don't survive. So you asked about the meaning. What's important to me personally is to prevent what happened to me and my wife, who spent about 30 days not knowing if she would be a widow or a newlywed from happening to anybody else and then to give to others Well, the opportunities that we have had they have spent hundreds of thousands of dollars on me personally and dedicating entire laboratories to figuring out what has caused my disease. I'm not sure if they're going to name the disease after me or the researcher

spk_2:   25:16
researcher. Yeah, we could maybe have a hyphenated name for it once they finally important exactly what it is. So it is very rare, thankfully, because it sounds like it's a terrifying disease. It took your motherly. It almost took you if your wife had not been right on top of things. It sounds to me like you probably would not be here talking to me today. It sounds like up until this point, you were leading a totally normal life. He became a lawyer. Nothing like this happens when you were in your teens, which is when a lot of changes take place in the human body or even when you were in your twenties. You you a mid to late thirties before just happened. So what kind of sign should people look for to know whether or not they should get genetic testing?

spk_0:   25:56
Well, I had no warning. I played hockey internationally. I've been an athlete on my life and absolutely no warning. As I said, my mom died of sudden cardiac arrest him at the time. No one told me to go test the genetics. I would advise others who have a history of any heart disease in their family to approach a genetic counselor. Genetic cardiac counseling is a very new field. It's been around seven, maybe 10 years. I would absolutely, by someone to get tested and to approach a counselor. That's what the heart Whole foundation is, therefore, to help bridge the gap between the cost to pursue this, but absolutely 100% would advise family members to take proactive preventive steps to test themselves. There's a story of a family in Dallas whose father was diagnosed with long Qi t syndrome, and he almost died. He survived, his daughters were tested, and one of them had long TT syndrome. She took the preventive step of having an eye CD and planted the next week. She's dribbling a basketball and she falls over and has a sudden cardiac arrest. She was saved, and the point is that she survived. I survived. I have Children. Bill's Children will have Children and the thousands and thousands of hundreds of thousands of lives that will be spared from the technology that exists, especially getting genetic test. It is, it's overwhelming. It's unbelievable until that already, families in Europe have been diagnosed with my genetic mutation. So I advise people to take the step, believe their voices in their head when they say there might be something wrong and take active steps to prevent their sudden cardiac or other genetic heart disease is

spk_2:   27:28
Well, then you've been such an inspiration to me sharing your story. Thank you so much. Unfortunately, I have to take a commercial break

spk_0:   27:35
my legs. Your Honor, thank you so much

spk_2:   27:36
for having me. Oh, absolutely. This is so informative. When we get back, we'll be talking to the world Katie Dane, geneticist and find out what he thinks the future of genetics and a congenital heart defect community is and how it has been changed over time. Thanks. We'll be back forever by the baby

spk_5:   28:09
blues sound collective. I think what I love so much about this CD is that some of the songs were inspired by the patient. Many listeners will understand many of the different songs and what they've been inspired by our new album will be available on iTunes amazon dot com. Spotify effect that the proceeds from that TV are actually going to help those with heart defects Enjoy the music Tonight forever takes his heart into street. We're offering us a mechanical hot and he said, now that I've had enough to give it to someone who's worthy My father promised me a golden dressed world held my hand and asked me where I wanted to go. Whatever stripe for conflict that we experienced in our long career together was always healed by humor. Heart to heart With Michael Please join us every Thursday at noon, Eastern as we talked with people from around the world who have experienced the most difficult moments,

spk_4:   29:18
you are listening to heart to heart with Anna. If you have a question or comment that you would like a dress on our show, please send an email to Anna Gorski at Anna at heart to heart with anna dot com. That's Anna at heart to heart with anna dot com. Now back to heart to heart with Anna Welcome back to

spk_2:   29:42
our show Heart to Heart with Hannah, a show for the congenital heart defect community Today we're talking with Jennifer Reed and her geneticist, Dr Angela Surely Been Wise book as a Heart Hope Foundation and professor of pediatrics and director of pediatric cardiac research at Children's Hospital with Constant Doctor Woody Benton. Today, we have heard from Jennifer Reed and her geneticist, Dr Angela, actually about the need for certain families undergo genetic testing. We've also heard from Ben Warren's book Space Death and lived not only to share his joy but also create a foundation to help others in a genetic testing. And now we will talk with Dr Woody Benson. Dr. Benson is professor of pediatrics and director of pediatric cardiac research at Children's Hospital of Wisconsin Medical College of Wisconsin, and he attended medical and graduate school at Emory University. He obtained a PhD and bio mathematics and biomedical engineering at the University of North Carolina, Chapel Hill and then engage from Duke University. Pediatric residency and cardiology scholarship were completed at Duke Medical Center. Early in his career, he pursued interest in cardiac electrophysiology and introduce this discipline to pediatric cardiology. In 1986 he became director of cardiology at Children's Memorial Hospital Northwestern. In this career, under the auspices of an Ice Age senior fellowship. He trained to become an investigator in the molecular genetics of pediatric heart disease, subsequently pursuing patient oriented genetic research. Dr. Benson's investigations identified the role of mutations in pediatric heart disease and established bicuspid. Aortic valve is a complex genetic disorder. Dr Benson, you maybe wanted those pioneers who helped save a man's life. I'm gonna welcome to the show. It's just such an honor for me to be with you, but in reading this small paragraph about you. So I know there's so much more about you that I just don't have the time to get into. You could be one of the people because of the research that you've done that contributed to then wise. But being a lot today.

spk_7:   31:42
Yes, I think it's been a very exciting addition to medicine and proving our understanding of problems that were mystifying without genetic insight,

spk_2:   31:53
absolutely well into research for this episode, I was completely overwhelmed by the research that has been conducted in the field of pediatric cardiology regarding the willow genetics and how that may play a role in the development of congenital heart defects. You know, when my son was identified with a heart defect. That's one of the questions that my husband and I were wondering about what data gene caused this and the doctors at that time, which was 19 years ago, told us, Oh, no, it's a fluke of nature. I think that maybe the scientific world started to think it's no such a fluke anymore. So can you tell us what the current beliefs are regarding the role of genetics in possibly developing congenital heart defects?

spk_7:   32:35
Yes, I think in terms of the question that you and your husband had and my experiences Clinician, this is one of the most important questions that all families have eventually is what caused this to happen. And I think early in our discipline several decades ago, based on the experience to ravage ins and these would be maternal rubella, the mother gets German measles in. This would affect the fetus, the effects of high altitude on heart malformations and then really the unpleasant experience with the medication toe little mod in the 19 sixties, really, I think let physicians to focus on the role of environmental factors. So there were some very large epidemiologic studies done looking for environmental factors, and one of the more famous ones was the Baltimore Washington and Study. They didn't find any major environmental effects. A lot of small effects, but no no major ones. And at the same time, people were aware of an association of congenital heart defects with easily identified chromosomal abnormalities like down syndrome er trisomy 21. But it was only in the late 19 nineties that we developed the capability, and this was all a spinoff of the Human Genome Project developed the capability to identify single genes that costs heart defects. And at the same time there are other technical advances that led us to the fish test, the micro way that you heard mentioned earlier. And so I think now there's really been a major change in thinking that most of the congenital heart defects that we see do you have a genetic component to them. A major contributor is the genetic abnormality. We understand the genetics and some instances, but still, I would say largely in most cases we still don't know the cause. Although we're pursuing the genetic causes

spk_2:   34:48
well, I remember about 15 years ago there were some scientists who were saying that it's probably not something simple. It's probably not just genetic to explain all of the heart defects, and it's probably not just environmental, but that there's probably an interplay between the two that causes most of the heart effects. Would you agree with that?

spk_7:   35:11
Yes. And I think although we have found some single genes, you can also have genetic conditions where the inheritance is complex. So it takes more than one genetic abnormality. And I think the challenge is gonna be nailing down exactly what the genetic and environmental contributors are because I think it's with this information than that we were able to advise families about their risk, how to avoid risk and so forth

spk_2:   35:40
Absolutely well. When I was doing my research, I came across one particular defect. 22 Q 11.2 delicious syndrome. I don't know if that's how you scientists usually refer to it. It looks pretty complicated, but I actually found a fairly large group of people on Facebook who suffer from this, and they told me that there's premature death and adults who are afflicted with that chromosome mutation. So I was told that they're actually doing some research in Canada, where they're trying to identify adults who may have this criminal mutation. Do you know if the same kind of thing is happening here in the United States?

spk_7:   36:18
Well, I think this chromosome 22 Q. 11 syndrome really tells us a lot about what we know and what we don't know and sort of points in the direction of how we're going to go. So this genetic syndrome was known by several names to George Syndrome, Sprint since syndrome vill Oh, cardio facial syndrome, Kona Chuckle, Anomaly, Face Syndrome and so forth indicating that physicians around the world had recognized the constellation of abnormalities. But it was only in the 19 nineties that we identified what the genetic problem waas. And now the genetic test gives us a different kind of gold standard than we had clinically. And we've learned that if you're looking at infants with critical congenital heart defects, so infant to may need surgery early in life that the 22 key 11 dilation is pretty common. But we've also learned if you are looking at older Children or adults to have developmental disability, that they could also have the 22 cute elation, and they may not have any heart defect at all. So depending on the patient group that you're looking at, this could have a very high into the park defects. There's certain particular types of heart defects that have been associate ID. But I think if you look at a large number of patients with this genetic abnormality that the heart defects air quite buried our as our field has matured. Now we have survivors of surgery who are living into the 2nd 3rd 4th 5th decade that we're beginning to learn about aspects of the heart problem that we really weren't aware of 30 or 40 years ago. We didn't have really nearly as good a surgical result. And so a lot of our patients didn't really live long enoughto have the problems that we see in adult life. So I think this report from Canada is shocking that adult patients with this genetic abnormality, some of whom didn't have any congenital heart defect it all still seemed to have this risk for dying suddenly. And I think the thing that's sort of humbling to think about is that when somebody has a genetic abnormality like this, it affects every cell in the body has this genetic abnormality. Clinically, we're used to seeing the most obvious manifestations of the problem, but in some medicines is it may take many years for the full manifestations to become known. So I think, in regard to the problem of the concern about sudden death and people with the genetic syndrome we're still learning. So I think individuals have this condition need to learn about advocacy because they're learning about their problem, sort of at the same time that their position, because I think it's one of your earlier speakers pointed out. A lot of the genetic testing that we have today wasn't really available 20 years ago.

spk_2:   39:32
I know it's just amazing to me how much we're learning, and it seems like exponentially faster. We're learning things today than what we were just 20 or 30 years ago. So what kind of advice would you give to parents who are dealing with families that have more than one child who's affected with a congenital heart defect? Is that the kind of family who should definitely take genetic testing?

spk_7:   39:56
Absolutely. And I think still this is another situation where the families who are highly motivated to learn everything they can about their child's problems. They may actually gnome or than their physician if he trained more than 20 years ago. And so I think this is one situation where it's really the parents are leading the revolution, and they need to be reassured that it's perfectly OK to ask their doctor the hard question. You know, Doctor, we read an article in Time magazine last week that mentioned a gene that have been associating with a condition like our sun has. Have you tested him for that? And I think it's activities like your radio show that parents become better informed about things and know the questions toe ass. So I would say in that situation, the only thing that the parents have any control over is their own sense that they've gotten all the information that's available

spk_2:   40:58
While you're a very powerful speaker, Dr Benson, I really appreciate you giving us your time and helping us to understand this very complex subject of genetics. And thank you for the detective work that you've been doing to try to determine what the exact cause of congenital heart defects, maybe, and to give the scientists and opportunity to pinpoint where the problems lie. Because this is how we're going to find a cure. And I think you're right. It's going to take parents working with doctors and scientists. We all have to work together for this. Unfortunately. Now I have to take another commercial break. But I want to thank you. Dr Benson, you were an outstanding guests.

spk_7:   41:32
Well, thank you. And keep up your good work.

spk_2:   41:35
Thank you Are intent to We will take a quick commercial break in when we come back. We will have our miracle moment where we will be hearing a story of how one young woman who was born with a congenital heart defect herself decided to have a baby against her doctor's advice. And what happened to the baby?

spk_3:   41:52
Oh,

spk_5:   42:04
heart to heart with Emma is a presentation of hearts unite the globe and is part of the hug Podcast Network hearts unite. The globe is a nonprofit organization devoted to providing resource is to the congenital heart defect community to uplift and power and enrich the lives of our community members If you would like access to free resource is pretending to CHD community please visit our website at www congenital heart defects dot com. For information about CHD, the hospitals treat Children with PhD summer camps for CHD survivors and much, much more.

spk_3:   42:44
You

spk_4:   42:50
are listening to heart to heart with Anna. If you have a question or comment that you would like a dress on our show, please send an email to Anna Gorski at Anna at heart to heart with anna dot com. That's Anna at heart to heart with anna dot com. Now back to heart to heart with Anna Welcome back to heart, to heart

spk_2:   43:12
with Amanda and now for a miracle moment. Today's miracle moment is an excerpt from the book The Heart of a Mother and It's Burned, the chapter entitled Mothers With Congenital Heart Defects. This is Mom Becky LeBeau Beautiful essay entitled A Healthy Baby. The day after I learned I was pregnant, I called my cardiologists. I was born with a congenital heart defect called Transposition of the Great Arteries, and when I was 16 months old, I underwent the mustard procedure. The surgery was successful, and I have experienced cardiac symptoms such as occasional with me as fatigue and shortness of breath. I never had any problems. Still, because of my condition, I knew I should be monitored. So I called my pediatric cardiologists and asked for be full to a new cardiologists. I felt embarrassed being 23 years old, price bent and still going to the local Children's hospital for treatment. He gave me the names of the few cardiologists who specialized in the treatment of adults with congenital heart defects. We've been chatted both few minutes about my health, and he asked me what else was going on. I hesitated because I still have not told anyone about my pregnancy fixed up for my husband. But then I just blurted out, I'm pregnant. I will never forget the highlands where the words that followed you are not planning on keeping the pregnancy, are you? I felt as if I was going to be sick. Somehow I managed to express it. I wanted to have the baby I was carrying. My daughter immediately apologized for having been so abrupt. He explained to me that because of my condition, pregnancy might be very dangerous for me, possibly life threatening. He urged me to stay one of the specialist as soon as possible to determine whether or not I would be able to keep the pregnancy. When I hung up the phone, I began to wonder why no doctor had ever mentioned the possible dangers to me before. The excitement over by pregnancy transformed into silence between my husband and there were many heavy sighs and cautious stairs in our household. Finally, it was time to meet with my new cardiologists. I had grown accustomed to a very personal one on one relationship with my pediatric cardiologists. I was shocked when my husband and I were waiting in the examination room and three doctors and a nurse came in. One of the doctors began by telling me that they would not discuss my pregnancy until they had examined me. They also warned me that it was possible that they might recommend termination of the pregnancy dependent on my condition. They emphasized that to protect my own health, I needed to follow the recommendations regarding the pregnancy, whatever they may be. My husband and I looked at each other and then agreed. After an examination and an echocardiogram, they led me back to the examining room. I could hear them off the voices of the doctors discussing my case in the hallway when it came back into the room. It seems as though the tension had lifted somewhat, although the doctor's demeanor was still very serious. They important to me that based upon their examination, they believed I could continue to pregnancy. Then the doctors told me about something. I had not even considered the possibility that my child might have a congenital heart defect. All those DHD is generally not believed to be hereditary. There seems to be a slightly higher incidence of it among the offspring of people who had a PhD themselves, which warrants fetal testing. Fetal echocardiogram would be done between the fourth and fifth month of my pregnancy to determine the health of my child's heart. Again, the doctor told me that if they suggested an abortion at that point in the pregnancy, I should highly consider following the recommendations. With all of these things racing through my mind, I set up my next appointment, thank them and say goodbye as we walked out of the elevator toward the car. Christian May, If there is anything wrong with the baby's heart, I want you to abort. I can't even express how stunned I heard I was when I heard him say this. Did this mean he would not love a child of ours? That we're not perfect? I know he was just scared, but it hurt me so badly to think about a boarding my child, especially if there were a problem that could be fixed. I also began to wonder if my parents had known of my defect before I was born, would they have chosen to abort me two time limitations? I have to stop reading back his beautiful essay here, but I recommend you all get a copy of the heart of the matter and turn to page 262. Read Becky's essay. I won't leave you in suspense. I think Beckett's title A Healthy Baby, strongly hinted the outcome of your presidency. Lucky for Becky and Chris, their son was born without a heart defect, and Becky endured the birthing process successfully. In light of what we've just learned in our episode today, I would say that this indeed was a miracle moment that concludes this episode apart to heart with Vienna. Help you come back next week when our show will be called Chorus Law and why it's important. Until then, Please find and like us on Facebook, check out our website and remember, my friends, you are not alone.

spk_3:   47:47
Thank

spk_4:   47:52
you again for joining us this week. We hope you've been inspired and empowered to become an advocate for the congenital heart defect community. Heart to Heart With Anna with your host Anna Gorsky can be heard every Tuesday at 12 noon Pacific time. 3 p.m. Eastern time. We'll talk again next week.