Ask Us Anything About… Adult Congenital Heart Disease

A man lays down on his back. His shirt is off, and a medical professional holds a stethoscope to his chest.

When we think of congenital heart disease, we may think of someone who’s diagnosed and treated as a child.

January 7, 2020Penn State Health News

But sometimes, that heart condition may not be caught until the adult years.

And even if it is caught early on, congenital heart disease is, in many ways, a lifelong condition.

We learn more from Dr. Anisa Chaudhry, a cardiologist at Penn State Health Milton S. Hershey Medical Center.

View full transcript of video


Description: The video begins inside the Penn State Health Milton S. Hershey Medical Center. Two people are standing next to each other inside a conference. Standing from left to right are Dr. Anisa Chaudhry and Scott Gilbert.

Scott Gilbert – Thanks for tuning in to Ask Us Anything About adult congenital heart disease from Penn State Health. I’m Scott Gilbert. Now when we think of congenital heart disease, we think of someone often who’s diagnosed and treated as a child, but sometimes that heart condition may not be caught until the adult years. And even if it is caught early on, congenital heart disease is, in many ways, a lifelong condition. We’re going to learn a lot more about it today with the help of Dr. Anisa Chaudhry. She’s a cardiologist here at the Milton S. Hershey Medical Center. And we welcome your questions for Dr. Chaudhry throughout the course of this interview. Dr. Chaudhry, thank you for being here today.

Dr. Anisa Chaudhry – Absolutely. Thank you for having me.

Scott Gilbert – You bet. Let’s start with a general kind of definition. We’ll start broad and get more specific. But when we talk about ACHD, as we’ll call it, it really is not just one disease, it’s actually dozens of illnesses, correct?

Dr. Anisa Chaudhry – Yep, certainly. So adult congenital heart disease comprises about 40 to 50 conditions. And when we say “congenital,” congenital heart disease is something that somebody is born with, as opposed to acquired heart disease, which occurs later on in life. And the majority of our patients have had surgeries when they were younger. Most of them have had maybe two or three surgeries or interventions and are showing up later to see us in adulthood. The minority actually are presenting for the first time. But the important thing to realize is that these patients, there’s often a misconception that they are “cured,” when in fact they have complications, they can have recurrences, new problems later in adulthood. And lifelong care cannot be re-emphasized, hence our specialty, adult congenital heart disease.

Scott Gilbert – Right. So it’s not like somebody is typically treated as a child for congenital heart disease, it’s fixed, they move on their way and they never speak of it again. It’s actually something they have to keep monitoring. And they may need follow-up surgeries down the road, right?

Dr. Anisa Chaudhry – Oh, certainly, yeah. So many of these patients we’ll see, you know, at least once a year, sometimes a couple times a year. But we think of, you know, the old-school way of thinking about adult congenital heart disease or congenital heart disease is that their surgeries were curative. In fact, they’re truly palliative. And, you know, certainly surgeries, interventions may be needed. Many will need medications. But some sort of intervention or medical therapy often needs to be adjusted later on in life.

Scott Gilbert – And you mentioned it is the minority of cases, but there are some in which adults are actually diagnosed with congenital heart disease, a heart condition they were born with for the first time as an adult. And are they often surprised to learn that they’ve lived so long with such a condition undetected?

Dr. Anisa Chaudhry – Absolutely. You know, as I said, the minority will be diagnosed for the first time later on, but many of them are surprised. And some will present with symptoms, which prompts the test. The most common of which being an echocardiogram. But often we’ve seen cases where an echo is done, picks up a fairly rare, you know, complex congenital heart condition. One example is something called congenitally corrected transposition of the great arteries. And, you know, if they go out in the community, often it’s an internist or an ER physician or a general cardiologist, which thinks it’s, you know, a more common acquired heart condition. You look closely and you realize it’s a rare congenital heart condition. Some of them will be even more surprised when they find out, hey, you need surgery now. And they’re thinking, I thought I was feeling fine all my life. Or they realize, you know, once they get the surgery, I was not feeling as good as I thought I was. Once they get the surgery, they have 10 times more energy.

Scott Gilbert – So it’s really that scan of the heart it sounds like that gives a lot of answers to physicians like you?

Dr. Anisa Chaudhry – Yes, absolutely. The test that probably reveals the most and is sort of, you know, our basic building stone test is an echocardiogram. But that’ll often lead to more nuanced complex tests such as cardiac MRIs, cardiac CTs, cardiac catheterizations, or a more invasive echo called transesophageal echo. But really echo’s the building block of our testing. And then that leads down the road to, do we stop at just monitoring these patients once a year? Do we use medications? Or do they need something like surgery or an intervention?

Scott Gilbert – You’re watching “Ask Us Anything About” adult congenital heart disease from Penn State Health. This is your chance to ask questions of a doctor. Not often you can ask directly questions of a physician here. And in this case, you have a chance to do just that with Dr. Anisa Chaudhry. She’s a cardiologist here at the Milton S Hershey Medical Center. So feel free to add your questions in the comment field below this Facebook post. And if you find this information valuable, as we hope you do, we hope you’ll share it on your Facebook page as well to help this information reach even more people. Statistically, when we talk about congenital heart disease, whether it be in children and adults, how common is it? What percentage of the population do we know is perhaps living with one of these illnesses?

Dr. Anisa Chaudhry – So it’s simple, it’s one in 100. In fact, when we had these congenital heart walks, there are shirts that state one in 100 — one in 100 live births. And that translates maybe to a little bit lower in adulthood because some of them are very sick and the numbers can go down. It is actually the most common congenital defect. But 1%.

Scott Gilbert – Okay. And it sounds like, oh, one in 100, that’s not — that pretty rare. But actually, in medical terms, that’s quite common.

Dr. Anisa Chaudhry – Yes, absolutely. You know, you take, for example, a condition that’s in a sense of more commonly known, hypertrophic cardiomyopathy, that’s one in 500. But 1% is, you know, by no means that rate.

Scott Gilbert – Sure. And so when an adult comes in, how dose that typically happen that an adult is diagnosed with a congenital heart disorder that has gone undetected for decades? What are some of the symptoms that typically would emerge that would cause him or her to come in and perhaps think it’s something else and then be diagnosed with ACHD?

Dr. Anisa Chaudhry – Sure. As I said, you know, some will get diagnosed incidentally by a test, if that had an echo for what was thought to be another heart condition or just a test they get along the way. But some of the more common symptoms are palpitations, shortness of breath, leg swelling, what we call heart failure symptoms — which can encompass the leg swelling, shortness of breath lying flat. Some will actually present pretty advanced in the sense that they’re blue or what we call cyanotic. But I’d say, you know, shortness of breath, palpitations, fainting spells, those are common ones.

Scott Gilbert – Do you find sometimes people have been living with these symptoms for quite some time before they seek help for them?

Dr. Anisa Chaudhry – Absolutely. And the term we have in congenital heart disease is sort of a self-limiting phenomenon. So many of these congenital heart patients, whether or not they had surgery or they didn’t know they had something, they’ve thought that their energy level or the symptoms they have are “normal.” And again, when you tell them they have this heart condition, and you do something to fix it such as medications or surgery, they realize, I feel twice as good as I used to. So many of them sort of adapt to their way of living and may not realize that they’re actually symptomatic.

Scott Gilbert – And you talked a bit about treatments earlier and I know it’s tough to say, what is the treatment for ACHD? Because it’s dozens of conditions. But I imagine it does, as you touched on before, ranges from medication to surgery to other things, right?

Dr. Anisa Chaudhry – Yes. Again, with 40 to 50 congenital heart conditions, there’s a whole myriad of interventions. The important thing is that when they get surgery, it should be done by a congenital heart surgeon. At Penn State, we’re fortunate to have two excellent congenital heart surgeons here. The same thing when they need catheter-based interventions or electro-physiologic procedures — which are for arrhythmias — with cardiologists that are familiar with their heart condition. But it can be anything from a pacemaker, ICD, to the catheter-based intervention and surgery.

Scott Gilbert – And what is it that distinguishes a congenital heart surgeon from other heart surgeons?

Dr. Anisa Chaudhry – Correct. So a congenital heart surgeon is essentially a cardiac surgeon that’s done a couple years extra in specializing congenital heart defects. Most of their surgeries will actually be on kids, but it also translates to doing the operation on an adult who has congenital heart surgery.

Scott Gilbert – Like we said, we welcome your questions for Dr. Anisa Chaudhry. She’s a cardiologist here at the Milton S Hershey Medical Center and she’s out guest today on Ask Us Anything About… adult congenital heart disease. A question from David who asks, is a shunt operation a higher risk of late mortality in general?

Dr. Anisa Chaudhry – Very good question. So one of the things I was going to say is that the most common congenital heart abnormality we have are shunts. What a shunt is is basically a connection between the left and the right sides of the heart. The left side of the heart typically pumps red blood. Whereas the right side of the heart pumps blue blood into the lungs. So the three shunts we have are something called ASDs — atrial septal defects — between the top two portions of the heart. VSDs — ventricular septal defects — between the bottom two portions of the heart. And what’s called a PDA — a duct between the two arteries. The most common congenital heart defect overall. But yes, if somebody has a shunt that goes unrepaired, then certainly the risk of morbidity — which is complications and sickness and mortality — is a bit higher. Most patients have already had their shunts repaired when they were younger. And most patients if they’ve had them repaired at an early age do well. But even those patients require lifelong monitoring. And there can be an increased risk of complications, like things of abnormal heart rhythms, high pulmonary pressures, etc. But again, most patients with simple shunts do pretty well.

Scott Gilbert – Are there risks, potential problems, that are unique to adults with congenital heart disease versus children? Certain things you look out for especially in the adult population that you treat?

Dr. Anisa Chaudhry – Yes, most certainly. And having congenital heart disease is such a unique condition, hence the importance of being seen at an adult congenital heart center or by an ACHD specialist. But this translates particularly so for the complex patients, those who were born with cyanotic heart disease who were born essentially having blue skin, blue lips, etc. Patients with severe pulmonary hypertension, Eisenmenger syndrome — which is sort of end-stage cyanotic heart disease — Fontan operations — where patients are born essentially with half a heart or single ventricle. And that’s why it’s very important for physicians who are not familiar with congenital heart disease to refer them to see an ACHD specialist. Many the times our patients will land up at an outside ER and, you know, we’ll get a call saying, I don’t recognize this word, “Fontan,” for example. And we’re happy to advise physicians — whether it’s an ER specialist, an OB/GYN doctor, an internist — about how to manage these patients.

Scott Gilbert – You’re watching Ask Us Anything About… adult congenital heart disease from Penn State Health. Your questions for Dr. Anisa Chaudhry are welcome, just add them to the comment field. Whether you’re watching this video live or if you’re watching it on playback, we’ll make sure we get you some answers to any questions that you may have. You know, I’m curious about the causes of congenital heart disease. And again, we’re talking about dozens of conditions here. So it’s I’m sure tough to kind of lay out the causes of each and every one of those. But are there some similar factors involved in terms of risk factors and causes with a lot of these?

Dr. Anisa Chaudhry – Yes. So opening up Pandora’s box and a question that the congenital heart field is very much looking into. It’s different than acquired heart disease, which has causes of high cholesterol, smoking, diabetes. The majority of congenital heart patients we never find an underlying cause. Nevertheless, there are studies looking into potential environmental factors, genetics. When we look at genetics, there are certain syndromes — such as Down syndrome, DiGeorge syndrome, Alagille — which have a genetic predisposition and those conditions have a high incidence of having congenital heart defects. Congenital heart disease does run in the family. So I’ll often tell my patients, if you have a child, you probably have five to six times higher the chance of having a baby with a congenital heart defect as opposed to the rest of the population, which is 1%.

Scott Gilbert – Those are important risk factors then for potential parents to keep in mind.

Dr. Anisa Chaudhry – Yes, absolutely so.

Scott Gilbert – Is there a misconception that, well, if I had a heart condition as a child and it was repaired that I’ll just grow out of it?

Dr. Anisa Chaudhry – You’re touching on all the right points, yes. So there is often a misconception both by patients and families that a patient has been cured of congenital heart disease because they had surgery. And as we said, you know, we really think of this as a palliative operation, because recurrences can occur, complications, new abnormalities. You know, the conundrum is these patients, particularly the ones who had complex disease before 1970, some of them were not surviving more than a year. Now with surgeries, advance in technology, medications, they’re living longer and longer. So with the longer lifespan comes complications. And that’s why it’s so important again to see an adult cardiologist that specializes in congenital heart defects because of the prior recurrences.

Scott Gilbert – And so obviously treatment, as you just noted, for congenital heart disease has come a long way, no doubt through research. But I’m sure research continues to even improve these treatments even more.

Dr. Anisa Chaudhry – Yes. And our community is basically on a lifelong quest for research that’s going to help these patients.

Scott Gilbert – Like so many other conditions, again, it’s a vast variety of them. It’s not just one disease and we’ve cured it, it’s it’s a whole variety of them. And I’m sure that keeps researchers busy.

Dr. Anisa Chaudhry – Yeah, most certainly does.

Scott Gilbert – Well, what kind of resources are out there for patients or for people who think that they should look into this or they may have a family member who may have adult congenital heart disease? What are some resources for them?

Dr. Anisa Chaudhry – Sure. There are several resources. One excellent one that we embrace and we often give handouts, both paper copies and online copies, to is the ACHA And if we can get a link up.

Scott Gilbert – Sure, we’ll put those in the comment section, sure.

Dr. Anisa Chaudhry – Sure, excellent. So the ACHA is the Adult Congenital Heart Association, a national association that provides both patient support groups, physicians that often post webinars on different heart conditions. But a patient can often look up their particular heart condition and see what somebody else has gone through, the recommended treatments, importance of follow-up, etc. Things like, you know, what exercises can I embrace, what medication should I be taking, can I or can I not get pregnant, all those things.

Scott Gilbert – Important resources, and great information from Dr. Anisa Chaudhry, a cardiologist here at Penn State Health Milton S Hershey Medical Center. Thanks so much for your time today, Dr. Chaudhry. And thank you for watching Ask Us Anything About… adult congenital heart disease from Penn State Health.

Show Full TranscriptCollapse Transcript

More AUAAs

  • Ask Us Anything About… Midwifery
  • Ask Us Anything About… Children’s Outdoor Injuries
  • Ask Us Anything About… Living Organ Donation
  • Ask Us Anything About… Pelvic Pain
  • See all AUAAs

Read More

  • The Medical Minute: Many people born with congenital heart disease now living longer
  • Penn State Heart and Vascular Institute — Adult Congenital Heart Disease

Leave a Reply

Your email address will not be published. Required fields are marked *