Tiffany Brazile, MD, Human Internal Medicine Resident, Post-Doctoral Associate, University of Pittsburgh, talks about heart diseases and how her team is studying new ways to detect it early,
I wanted to ask you a little bit about congenital heart disease just for our viewers who have heard of it but may not have the context. What are we talking about when we’re talking about congenital heart disease?
BRAZILE: Congenital heart disease congenital refers to the fact that it’s something that somebody is born with. And so this is a defect in the structural anatomy of the heart. And so it may affect the heart valves or it may mean that there are some areas of the heart that didn’t form properly. And so that there might be a connection between the atria, the upper chambers of the heart, or between the ventricles, the lower chambers of the heart, which changes the flow of blood different from what would be the normal anatomy.
Is this something that’s picked up early on right away or not necessarily?
BRAZILE: Sometimes. It depends on the severity and whether or not it can be picked up on the ultrasound when a baby is in utero, or if in childhood there are a lot of symptoms, because of the severity of the defect, it might be picked up earlier. However, some things do not become significant in terms of a patient having symptoms until they’re older and things progress over time as their body grows and, they’re starting to put their body through different stresses. Sometimes the existence of a different illness allows the congenital defect to also present itself later in life.
What kind of symptoms could someone in their 30s or 40s or 50s be having that could point toward a congenital heart disease?
BRAZILE: One of the most common symptoms is feeling shortness of breath sometimes at rest but more common with physical exertion. This can often be mistaken as asthma or some other form of lung disease, particularly if somebody is a smoker or has severe allergies or has a family history of other sorts of lung problems. Another common presentation that somebody feels lightheaded and like they’re going to pass out and so because they are very nonspecific symptoms, the differential diagnosis, all of the different conditions we might consider in an evaluation for a patient can be quite large.
Tell me a little bit about what studied and what you presented.
BRAZILE: The study comes from patient cases and so a patient that I had cared for on a team in the cardiac critical care unit had presented initially with fevers, shortness of breath, feeling like she was going to pass out and extremely low blood pressure. And prior to coming into the hospital, the patient had been recently evaluated just for shortness of breath and feeling like she was going to pass out but not on the scale of severity as during the hospitalization. Through an evaluation in the outpatient setting, they did notice that she had elements of pulmonary hypertension, meaning the pressure in the arteries that lead to the lungs was elevated. And that was attributable to her symptoms. Unfortunately, because this patient didn’t have health insurance, the full evaluation was deferred because she just couldn’t afford it. So she actually was enrolled in a clinical trial to be on an experimental therapy so that it would be at no cost to her but to provide her with some relief and hopefully buy some time to be able to do the full evaluation of her condition to understand why she had the pulmonary hypertension and these symptoms in the first place. Unfortunately, it was an I.V. medication, so she had an indwelling line. It got infected and that’s what led to her hospitalization and so when she was there, we did some imaging of her chest and found that she not only had a pneumonia, an infection in her lungs, but as a result of what was discovered on the chest imaging where we found the pneumonia, it gave us a different view of the anatomy of the heart than in the outpatient setting when we used a transthoracic echocardiogram, which is an ultrasound through the chest to look at the heart. That showed that there was an abnormal vein connecting and also a defect called an atrial septal defect. The septum that separates the two atria, the upper chambers of the heart, allows blood to flow freely but when normally it would not do that. So that was something that had not been evaluated yet in the outpatient setting. As a result of this infection, she also ended up with an infection on her heart valve and that infection ended up sending out emboli to her brain, to her fingers and toes and also to her kidneys. So she was extremely ill.
How important is it to be able to pick up these defects early so that it’s a matter of preventive care, maybe, rather than reacting to a lot of situations?
BRAZILE: Certainly. It’s really important to not necessarily just go chasing something and rule it out in everybody. The general prevalence of congenital heart disease is less than 1 percent in the entire population. However, we are noticing that with improved diagnostic capabilities, we’re able to pick up on these more than perhaps we did in the past. And approximately one out of 150 adults may have some form of a congenital heart disease, but not all of them are clinically significant. They might not have symptoms or ever have symptoms.
You had mentioned in this one particular study that pulmonary hypertension seemed to be a label that connected some dots. Can you tell me a little bit about that?
BRAZILE: Most definitely. So pulmonary hypertension can be caused by multiple things, some dealing with the heart and some with the lungs. There’s five different categories to describe the cause of pulmonary hypertension, and the treatment depends on which of those causes leads to that outcome. In a patient, particularly patients who are on the younger side, it’s always important to consider whether they do have congenital heart disease that was missed earlier in life because they weren’t having symptoms yet. Sometimes on a physical exam when somebody is younger, you might hear a heart murmur. You might hear some difference in their blood flow. That gives you a clue is there something we might want to investigate and monitor over time. Secondarily, I think that if somebody is presenting with things like exertional shortness of breath, it’s easy to say that maybe it’s asthma, particularly in somebody who’s young and otherwise healthy. It may also make you consider; do we need to evaluate whether this patient has a congenital heart defect and not just treat with a medicine, but make sure that we’re doing a thorough evaluation if there is that suspicion.
I’ve kind of asked this question but I’ll ask it in a different way. Is there a takeaway that you would want people or physicians to know from what you and your colleagues studied here?
BRAZILE: Most certainly. I think there’s two things. First of all it’s very important to always consider whether or not there’s a congenital heart disease that might be underlying another heart condition, since it can manifest in a lot of different ways. As patients get older, it might be something that’s not necessarily in the back of a patient or even some clinician’s minds so making sure that that remains in the differential, I think, is very important. Secondarily, the guidelines for evaluating pulmonary hypertension, imaging wise, are slightly different than those for congenital heart disease, if it’s not considered, the correct imaging may not be ordered and therefore, again, it might be missed and further delayed. I think the other important point from this study was how disparities in health care and people who are part of vulnerable populations due to a lack of resources, a lack of health literacy, transportation, these sorts of things can limit their ability to get a timely diagnosis. I think it’s really important to consider those aspects in caring for patients to make sure that we’re doing what we can to ensure that we are trying to limit these adverse effects when a diagnosis is delayed and therefore treatment is delayed.
So for patients if you are having those – that shortness of breath, asthma symptoms, and you’re not getting relief, it may not be, would congenital heart defect be something, you know, perhaps, to bring up to your doctor? Is that an accurate way to say it?
BRAZILE: Most definitely. I think anytime that somebody is on a therapy that is not providing them with relief, I think it’s worth having that discussion and if they are symptoms related to the heart, to physical exertion, exercise, to how well somebody is breathing, or somebody feels like when they are in their daily life that they feel like they are, you know, going to pass out, you know, these are all signs that there might be something going on in the heart and lungs that warrant some further evaluation.
Anything I didn’t ask you, doctor that you would want people to know?
BRAZILE: I think it would just be really important to have open discussions between a patient and a doctor, anything that’s a concern, anything about family history that’s relevant, to not be shy in asking those questions. There are no dumb questions and I think it’s really important to feel comfortable expressing any concern so that they can be thoroughly evaluated and a patient can be armed with the information they need to advocate for themselves.
Interview conducted by Ivanhoe Broadcast News.
END OF INTERVIEW
This information is intended for additional research purposes only. It is not to be used as a prescription or advice from Ivanhoe Broadcast News, Inc. or any medical professional interviewed. Ivanhoe Broadcast News, Inc. assumes no responsibility for the depth or accuracy of physician statements. Procedures or medicines apply to different people and medical factors; always consult your physician on medical matters.
If you would like more information, please contact:
SHEILA DAVIS
412-313-6070
Sign up for a free weekly e-mail on Medical Breakthroughs called First to Know by clicking here
