Maria Mountis, DO, a cardiologist at the Cleveland Clinic, talks about a rare heart condition that only about 300 people have ever been documented having it.
Interview conducted by Ivanhoe Broadcast News in April 2017.
Brenda has this rare condition, this Idiopathic Giant Cell Myocarditis.
Dr. Mountis: Myocarditis, yes.
Let’s start by talking about what that is and just how rare that actually is.
Dr. Mountis: Idiopathic means we don’t exactly know what causes it. She had something called Giant Cell Myocarditis and Myocarditis is an inflammation of the heart muscle. This particular type of Myocarditis is very rare. We see about maybe three to four cases per year that we know of. How the final diagnosis is made is you need tissue. You need a piece of tissue of the heart to make that diagnosis. If someone has a very high clinical suspicion that this is Myocarditis, we do a heart biopsy in our catheterization laboratory or at the time when someone receives a heart transplant when that heart goes to the pathologist and they actually do their test on it. They will tell us that was the diagnosis of Giant Cell Myocarditis. If you have a high clinical suspicion you know these patients tend to be very sick very quickly, they have a lot of abnormal heart rhythms and they go in to cardiogenic shock. Their heart just becomes very weak, it’s not pumping out enough blood flow to the rest of their body and they may have a lot of abnormal heart rhythms that you can’t really figure out why. It takes someone trained specifically in cardiology and in heart failure to really have a high suspicion of that diagnosis. With Brenda that is what was her diagnosis and it wasn’t something that we originally thought of. I’ll be very honest with you. It didn’t cross our minds. It is rare. Here at the clinic at least tissue diagnosis wise it may be a handful of patients a year.
I think I read that there have only been hundreds of cases even documented.
Dr. Mountis: Yes, documented because unless you have a tissue diagnosis, that is really how it’s diagnosed. Now interestingly our imaging technology is becoming very amazing. MRI, there’s lots of imaging that we can get a sense of what is going on in the heart muscle without an actual biopsy. It really comes down to again having that biopsy or having a tissue diagnosis. It is very rare. There are probably more cases than we realize that someone may pass away and someone said it was just a heart attack and it’s unfortunate. Those numbers that are quoted may be under estimating how often we see it.
Is a transplant the only cure for it?
Dr. Mountis: Yes. Depending on the patient’s age and whether or not they qualify for a transplant, transplant is the recommended therapy. Certainly we can try other therapies. We can try something called immunosuppression. Using steroids and other immunosuppression medications to help calm down the inflammation. Ultimately transplant will really be the cure for this patient. Interestingly though is that the Myocarditis sometimes can actually be found again in the transplanted heart. Part of the arteries, the surgeon has to sew on part of the native vessels to the transplanted heart so there has been documentation that Giant Cell may reoccur in the transplanted heart. In these patients we will always keep them on some immune or obviously continue the immunosuppression but always some extra prednisone as well to help make sure that they don’t have reoccurrence of that Giant Cell in the heart. If someone came to me with that diagnosis I would say this patient has to be evaluated for transplant if they are in that particular age range and they meet qualifications for a transplant. We recently had an individual who was an elder gentleman and he was not a candidate for other reasons for transplant. I believe he was in his mid-eighties but that patient was treated for a period of time just with immunosuppression medication and he was able to survive to a period of time for him to meet a family get together. But yes, transplant is the treatment of choice for these patients.
One of the things that stuck with me about Brenda’s story, besides the fact that she was otherwise completely healthy, was that she was never a heart patient before. Was that her initial symptoms when she first started to get ill? She said she thought she had asthma. She had shortness of breath and wheezing, typically that’s not something we would associate with the heart. Could you talk about that?
Dr. Mountis: Sure. In medicine we always come across patients who we will remember forever. We will remember how we met them, we will remember their diagnosis, and we remember everything about them. Brenda is one of those patients. My first visit with her as you’ve met her she’s a very striking lady. She’s a beautiful lady both inside and out. Maybe her beauty was a determent to her because I don’t think people thought this fit lady in her early fifties was unwell. I specifically remember everything about her case. Brenda was in her early fifties and she came to me as a consult from the emergency room the night before. It was fortuitous I happened to have an opening that day for a new patient and she had driven about three hours away, I believe in her RV. She came with her husband in their RV and wanted another opinion because she didn’t feel comfortable with the opinion that was given to her at her local hospital. Her symptoms were, “I’m short of breath, I was short of breath I wasn’t feeling well.” This lady exercised, she was working, and she just didn’t feel well. She was found to have a weakened heart muscle and eventually found to have a very leaky heart valve. There wasn’t a consensus at the other hospital as to how to treat her. One person said you need mitral valve surgery, another person said you just need medications, another person said you may need surgery but we may need to do a heart pump as a backup. She was just confused and her gut feeling was telling her this is not right, I need another opinion. She was told by someone, you need to go to Cleveland Clinic and you need to get a second opinion there. The easiest way may be to go right to the emergency room. I remember specifically her telling me she went to the emergency room and they said, “Well what are you doing here, what are we going to do for you here?” They made the appointment and I met her that next day. I’m really happy and I really think that in a way this saved her life by meeting her in the clinic. I took one look at her and yes she looked pretty good. She was thin and her hair was done and her makeup was done but there was still this fear and uncertainty in her voice and this feeling of overwhelming and she was very scared. On exam there was something that wasn’t right. You could tell there was just something that wasn’t right. It was her heart. This was not a symptom of asthma, this was not COPD, and this was not a lung issue. I admitted her that same day. I said we’re going to bring you in to the hospital; you need a heart catheterization, we need to sort out what exactly is going on. Interestingly in a way we failed her because she was discharged within twenty four hours. They adjusted some of her medications and she was discharged. She had a follow-up appointment with me that following week and I started over again. We’re going to bring you back into the Hospital, and I sent her immediately for that heart catheterization that same day. I said, we’re going to bypass something is not right here. Her heart catheterization showed us that she was in cardiogenic shock. Her pressures in her heart were very high. The amount of blood flow leaving her heart was very low. We were starting to see its effect on her kidneys, on her liver. Everything was just not getting good blood flow; she wasn’t being pro-fused appropriately. Thankfully then that landed her in the intensive care unit. Honestly shortly thereafter she ended up on a balloon pump, on medications to help with the pumping function of her heart and we quickly did a transplant evaluation and she eventually got transplanted. The beginning symptoms were not classic for heart disease. That’s important to realize. Not everyone shows up with chest pain, not everyone shows up with shortness of breath. It varies from patient to patient. It’s important to find someone who listens to you and for you to know what your body is telling you when something is not right.
You made a really good point. She talks about that as well, the importance of meeting to tend to be an advocate for yourself when you receive a gut feeling that something is wrong. About not being afraid to go and get that second, maybe a third opinion.
Dr. Mountis: Absolutely. I actually welcome if someone tells me l wouldI like to go for a second opinion. That’s important because we all make mistakes. It doesn’t matter what our training is or how many years we’ve been in practice, we all make mistakes. Going to a larger center, a center that sees more of a particular condition, or if you come from a center where there’s disagreements or arguing about, why I think this is what we should do versus this is what we should do. Then maybe you just need to go to someone as a tiebreaker and say, I think for you this is not the right thing. That’s what happened with her. I still to this day believe that. Brenda may not have made it if she didn’t come here for a second opinion. She is a very thoughtful person, and a very spiritual person. She knew that there was something not right. Her husband believed her and she took that inclination and that feeling and said I’m just going to go three hours away and get another opinion. I’m glad she did.
So the transplant happens. It sounds like it was in the nick of time.
Dr. Mountis: It was not days it was weeks. She was keeping active on a blog. She wrote everything on the blog. I was privy to be able to read that blog and I think not until after the fact did I realize how much fear there was and how much anxiety. She has a very big family as well too and the family would come in and every day, I would come in and say I did take care of her the entire time in the hospital, the waiting and the waiting for the perfect match. For her, we were fortunate, she’s a small lady and her blood type, if I recall correctly, was favorable. The wait, we knew statistically speaking, the wait was not going to be months. She was deteriorating. She ended up on a temporary, mechanical heart pump. She was lucky that, that was also on top of everything and able to keep her going. She was a trooper throughout that but it did happen very quickly, within weeks. If you can imagine in August or September that we made the diagnosis and then within a few weeks getting a heart transplant. A major open heart surgery, new medications, adjustment to something completely different is remarkable and how well she’s done it’s very remarkable.
Absolutely. Since the transplant about two years ago, what is different for her going forth now with getting a new heart? Are there some restrictions that come with that?
Dr. Mountis: Someone like Brenda, she was otherwise a very healthy female. Very healthy very fit, already exercising and taking very good care of herself. But now she undergoes this open heart surgery where she does have a new heart and with time and with exercise training and cardiac rehab, most patients can get to a pretty good quality of life in terms of their function. Now some people are different than Brenda, they’ve been sick for fifteen, twenty years with heart failure. They’re already a little bit more de-conditioned. They may be older; they may have a different quality of life. Typically folks get back to pretty much everything they want to. We give them some guidelines in terms of a warm-up period and a cool down period just because of their resting heart rate is different, the nerve innovation to the heart is different. Many with the appropriate exercise training they can get to a pretty good quality of life. They are on a regimen of immunosuppression medication. Typically, it’s three medications Tacrolimus, cellcept and prednisone. Brenda’s on just a little bit prednisone again because we don’t want that Giant Cell to come back to her heart. These patients can because they are immuno-compromised; they are at high risk of developing infections or cancers, malignancies in their lifetime. We keep a very, very close eye on them in terms of all their general screening, so her mammograms and her pap and pelvic and skin, cancer screening and colonoscopy. In terms we’re very cautious with that. In general I try to tell my patients, this is a second chance of life and I don’t want you restricting everything. I want you to still do everything you’d like but just be extra cautious. Don’t expose yourself to too many infectious issues. I want you to still travel, I want you to still work if you want to go back to work, and I want you to enjoy your family. We really try and get patients back to as best quality of life as possible and to what they want to do.
Not knowing where this came from. Not knowing how she picked this up or how it came about. There’s not really a warning that you give to people like don’t do this or you’re going to get Giant Cell. Is there anything you can speak to in terms of maybe like you were saying a little bit earlier some symptoms that are not your typical heart symptoms. Things that people if you notice something don’t ignore it.
Dr. Mountis: Even though it’s an inflammation of the heart muscle, it still leads to heart failure. A very enlarged heart muscle, a weakened heart muscle that doesn’t perfuse the body appropriately. Heart failure is just a combination of symptoms. Increasing shortness of breath or worsening shortness of breath. A palpitation is a sensation that is a pounding in your chest. Sometimes people describe it as a fluttering in that the chest or a little hummingbird in the chest, swelling in the legs. Not able to breathe, so you’re able to lay flat, now you need a few pillows to prop yourself up to breathe appropriately, waking up very anxious and very short of breath. Those are all symptoms of heart failure. We have fancy names for them in medicine but those are very common symptoms of heart failure. If you have those symptoms one or many of them it doesn’t mean you have heart failure. The body gives us so many symptoms that it’s our job to try and tease out from the patient other findings and trying to make a diagnosis. Other symptoms weight gain, your belly is bloated, and my pants don’t fit anymore and I’m not overeating. As a matter of fact, I’m not eating as much. I eat a little bit and I get full quicker. Most patients know they’ve had these symptoms but they are scared to say something. They are afraid and they think the worst. In something like this, this is the worst. Confide in someone whether it’s your family doctor or your gynecologists or your urologists, a physician who then can get you to the right person. If that person doesn’t see anything abnormal but you still have that feeling that there’s something not right you need to go to another physician, because we all have different training. She was lucky that she ended up on our heart failure team. If there’s this knowing feeling that something is not right along with symptoms of the shortness of breath, chest discomfort and anxiety, that you can’t understand why or knew that you’ve never had anxiety before. Swelling of the legs, swelling of the belly, again, that shortness of breath, then that’s very important to not wait. People have a tendency to wait. You see them there holding on to fifty pounds of fluid and you’re like what happened? Why are you just coming in now? Take that fear and know that there are people out there that can help you. That’s what we’re there to do.
Anything else you would like to add?
Dr. Mountis: How patients that receive a transplant despite what type of transplant it is can still have a fantastic quality of life. It is a different life, a life that will always have to be monitored by physicians. But it’s a very good quality of life and that I think just goes to show that we still have to push individuals to consider organ donations because everyone can be an organ donor and I think everyone can offer the gift of life to lots of individuals. That’s my parting words I want to just make sure that everyone considers being an organ donor.
END OF INTERVIEW
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