Heart Failure Specialist at the MedStar Washington Hospital Center, Mark Hofmeyer, MD talks about a dangerous heart condition that is overlooked.
Interview conducted by Ivanhoe Broadcast News in 2023.
What do you do here? What would you say you do? What you have found is that sometimes it’s idiopathic and the myopathy and sometimes they’re getting it from their parental unit, so to speak. What’s the first sign that they need help?
Hofmeyer: Many times it can be very gradual. The onset of what we call the syndrome of heart failure. There can be many different symptoms. The thing that probably is the most common symptom is shortness of breath with activities which can be very nonspecific. Many times it can take years for a patient to actually be diagnosed properly with heart disease.
What is shortness of breath?
Hofmeyer: That’s a great question. Many times patients don’t even notice that they’re short of breath. They might notice that it’s more difficult to walk as far as they were able to previously, or have to walk more slowly because they feel limited and they might not necessarily have that specific symptom of not being able to get enough air when they’re doing activities.
Does it hurt? Does your heart hurt when it’s overgrown?
Hofmeyer: It depends. Patients can present in many different ways. Chest pain, as we traditionally think of it many times is a sign of coronary artery disease. But that’s a separate, distinct disease process from what we’re talking about today, idiopathic dilated cardiomyopathy.
Can you define that term in layman’s terms?
Hofmeyer: Idiopathic is a fancy medical term to mean we don’t know. Dilated means the heart is enlarged, and cardiomyopathy means heart muscle weakness or heart disease.
How does that trigger?
Hofmeyer: We don’t know. There are various different ways that the heart will change over time to accommodate for some stressor or insult. And what we were discussing before, in coronary artery disease, it’s usually an inciting event of someone having a heart attack. Meaning one of the arteries gets blocked off and the muscle downstream from that artery dies. But that’s usually a pretty easy diagnosis to make because it’s usually a pretty dramatic presentation. That’s about 40 percent of the patients who develop dilated cardiomyopathy. They will have what we call it ischemic cardiomyopathy or heart disease related to coronary artery disease. The other 60 percent of people, it can be a wide variety of different causes that slowly, over time, the heart will accommodate and gradually enlarge and weaken. In portion of those cases, we do exhaustive studies trying to figure out what’s causing the heart to weaken and in the end we don’t know, and that’s why we call it idiopathic. If you do a family history, you might have thought that there could be something related to running in the family. We call that familial dilated cardiomyopathy. Regardless of whether you do see a pattern in the family, you should consider doing genetic testing in these patients.
If somebody suspects, if they know, for example, that their parents had it and they suspect that they might, they should go in for genetic testing or do they go through the process of primary, cardiologist, and you ordered the testing, right? What’s the process?
Hofmeyer: So for patients who have first-degree relatives with dilated cardiomyopathy, regardless of whether we think it’s familial, they should get screening. The guidelines are clear that you need to get an echo and an EKG every 2-3 years until the age of 50. If you haven’t developed any heart disease by the age of 50, you can start spreading that screening out to about every five years. Similar to other more common diseases like breast cancer and colon cancer, where you’d get a mammogram or you’d get a colonoscopy periodically, those patients that we know are at higher risk should get routine screening every few years with an echocardiogram and an EKG. In addition to that, they should be considered for genetic testing. You should always do genetic testing in the known affected family members. And then if you identify a gene, you should look for that gene in first-degree relatives. And then do what we call cascade screening. If you find it in that group of family members, then move on to the next generation, etc.
Will it eventually stop as it goes through the generations or do you see it all the way throughout?
Hofmeyer: Well, unfortunately, what usually stops is the family members might no longer be alive. We know that genetic cardiomyopathy can be severe and can lead to more progressive forms of heart failure. Many times there’s gaps in that family tree because patients have died, sometimes the first manifestation can be sudden cardiac death as opposed to developing symptoms of heart failure. So it’s critically important that people get screened up front to avoid progression of disease to severe forms or dying suddenly.
Can you explain to the people who are watching this, because if anything’s wrong with your heart, you know you don’t have much time to get it seen about. All the other organs and stuff, you can waste some time. On the heart you can’t. Because you said like with the older generations, they’re gone. What are they looking out for? And describe to us physically what you’re seeing with this cardiomyopathy.
Hofmeyer: As I said before, many times patients get diagnosed relatively late in the disease process. Many times they feel that this is just associated with aging, that I’m feeling more tired, that I don’t have the energy I had before, that I’m getting more short of breath when I’m doing activities. They might not realize that this has anything to do with heart disease. Unless we’re screening patients earlier and finding the heart disease earlier, many times they’re presenting with severe forms. Then you need to see someone like me, who is a heart failure specialist, who deals with the potential for needing a heart transplant or other really advanced therapies, as opposed to getting on standard treatment early on where the prognosis may be better.
What are the treatment plans for this? What are some of the options?
Hofmeyer: The good news is we have really excellent therapies for patients with earlier stages of heart disease. Hypertrophic cardiomyopathy is a different type of cardiomyopathy. It’s also genetic.
It is?
Hofmeyer: Yes. The good news is we have excellent treatments for dilated cardiomyopathy, even in the earlier stages. The guidelines that came out a year and a half ago from the American Heart Association, American College of Cardiology, in conjunction with Heart Failure Society of America, are very clear. Patients should be put on a combination of four different medications in order to blunt the progression of the disease. If we get on good therapies early that mitigates the risk that the disease will progress to the point where patients need advanced surgical therapies like consideration for heart transplant.
On the medications, it’s a combination effort. What are they actually doing to slow the progression of the disease, physiologically?
Hofmeyer: These medications are what we call neurohormonal antagonists. What happens with chronic heart failure is the entire, what we call neurohormonal milieu of the body gets imbalanced, the sympathetic nervous system gets revved up. Something called the renin-angiotensin-aldosterone system gets revved up. This causes the heart to work harder over time. What these medications do is they decrease the signaling in the sympathetic nervous system and in the renin-angiotensin-aldosterone system, allowing the heart to rest, work more efficiently. In some cases, the heart will actually get better over time. The heart size can shrink back down to a normal size and the pumping function can increase.
That related to anything to do with regulation of hormones by pituitary or thyroid or did they all come rolling back?
Hofmeyer: These are different types of hormones. Hormones in general are ways that the organs of the body signal to each other. These are different types of hormones, as I said, mainly the sympathetic nervous system and what’s called the renin-angiotensin-aldosterone system.
What is the statistical comparison between idiopathic and genetic cardiomyopathy?
Hofmeyer: That’s a great question. The answer is we don’t know, because the vast majority of people with idiopathic dilated cardiomyopathy never get genetic counseling and never get genetic testing. As you know, knowledge is power. It’s incredibly important to get that information to understand your risk better. Because there are dozens and dozens of genes that can cause idiopathic dilated cardiomyopathy and right now, we’re trying to figure out which ones have a worse prognosis and which ones have a better prognosis; which ones are more responsive to these neurohormonal treatments? Which ones put patients at a higher risk of having the electrical disturbances we call arrhythmias that put patients at risk for sudden cardiac death.
I’m sort of reading between the lines and the idiopathic cases might actually be inherited cases, genetically inherited.
Hofmeyer: Correct. If we do genetic testing on these patients, about 30 to 50 percent of the time we do find genetic cause. For those that we don’t find a genetic cause, it doesn’t mean that it’s not hereditary, it might just mean that we don’t know what gene we’re looking for. Over time, we’ve discovered more and more genes that are causative for dilated cardiomyopathy.
How is that tendency inherited? Because I think people say, well, I got cancer and my mom had it, my dad had it. This is a sophisticated operation that’s going on where the heart is like, ooh. How is that passed along from generation to generation?
Hofmeyer: As you said, we have two copies of each gene, one from our father, one from our mother. Those two genes will work together. Many of these pathogenic variants we find for genetic diseases are what we call autosomal dominant. Meaning that they will express the abnormal phenotype or the abnormal protein they’re making more often than the normal gene. Depending on a term we call the penetrants, depending on the penetrants, sometimes patients will present with the dilated cardiomyopathy much earlier in life than others. It’s really just a matter of how much the one gene versus the other gene is expressed. For those that the pathogenic or abnormal gene is expressed more, the disease presents much earlier in life.
What is the prognosis for people with those? If you get to them with medication soon enough much better. Overall, what would be their prognosis compared to someone who comes in not late enough for a transplant but pretty late?
Hofmeyer: So we don’t have great studies to answer that question well, but we can extrapolate from the information that we have, in that if you put patients on medical therapies earlier in the disease process, it’s likely the prognosis is better because it’s much higher likelihood that you can blunt the progression of the disease. It’s hard to say that from one gene to another because as I’ve said, we’re noticing that certain genes respond better to medical therapy. And other genes are less responsive to the current medical therapy that we have. The other issue I mentioned is that some of these genes are also causing problems with the electrical system of the heart, which can lead to worse prognosis.
And the triggers for them, are they environmental? I know they’re inherited to begin with, but what gets that one protein revved up to goof everything up?
Hofmeyer: So that’s a fantastic question. We don’t know. But certainly, the aging process seems to be related to it. So whether it’s developing new stressors to the heart, like developing high blood pressure or getting some degree of coronary artery disease, not severe, but even small amounts could be related to it. Other stressors, we’ve seen that pregnancy can sometimes bring out the- the heart disease earlier than not. When we do genetic testing on people who were diagnosed with cardiomyopathy around the time of pregnancy, we see many of these same genes and the same frequencies of those who never got pregnant. So it could be different medical issues that are stressors on the heart that can bring this phenotype out or the expression of that gene out earlier.
So what I’m hearing there is that anything that’s out of the norm for the human body and certainly pregnancy is one of those, could just set this thing off and although I’m assuming in pregnancy, those that have that sometimes it goes away at the end of the hormonal surge?
Hofmeyer: Right. So what we see sometimes with cardiomyopathy associated with pregnancy is not being pregnant, the heart can get better over time. But what we also see is with subsequent pregnancies, the heart many times gets worse and even worse than the previous pregnancy. So in patients that have been diagnosed cardiomyopathy associated with pregnancy, the recommendation is to avoid future pregnancies if the disease is severe.
We know so much more now than we did, used to hear about pregnancies back in the ’50s and ’60s. Well, they’d say maybe she’s got a bad heart or she shouldn’t have any more kids because whatever. You have so much at your fingertips. What is the most valuable part of all of that knowledge to you as a physician?
Hofmeyer: Understanding the risk and being able to risk stratify patients early on in their disease process to help them to understand where they’re going with the disease. The other thing that’s critically important is the family. Patients with idiopathic dilated cardiomyopathy are not in isolation with their disease. The other first-degree family members are at significant risk and need to be screened. And if we aren’t screening those patients, we’re doing them a disservice. The issue is they feel fine. So just like why should I get my colonoscopy? I feel fine. Why should I get my mammogram? I feel fine. The real worry that I have every day is the patients that I don’t know the first-degree relatives of my patients and getting them in early to get them screened and diagnosing their disease early before they have a problem is what I think will make the biggest impact moving forward on heart failure.
Totally agree. So when my mom had it, I arbitrarily went in. I was in my 40s and had a bunch of workups done and echo, and stress tests, are those going to uncover that first-degree relationship?
Hofmeyer: So that’s exactly why we do that. In certain types of genetic cardiomyopathy, we actually see subtle changes on EKGs before we see any abnormalities on echocardiogram. Now with better imaging modalities in research we’re doing right now, we’re looking for abnormalities on MRI which you might not see before you see abnormalities on echocardiogram because every different testing modality has a certain sensitivity for what we’re looking for. So as I have already stressed getting screening and not only screening but recurrent screening is really the key.
So when you’re saying you’re recommending screening, is there anything I should tell them? Particular tests they need to get? Just an EKG?
Hofmeyer: EKG and echo, the guidelines- the guidelines are clear. There’s 2018 guidelines from the Heart Failure Society of America. That for patients with idiopathic myopathy that they should get screening done periodically with echocardiogram and EKG. And as I said, for those under the age of 20, it actually should be every year. Once you’re adult age, then you can get it every two or three years.
As the danger one?
Hofmeyer: Until the age of 50 and then spread it out further. Those guidelines are also in the 2022 Heart Failure Guidelines from the ACC, AHA, and Heart Failure society. That it’s a class 1 indication for family members to get referral for genetic counseling and testing. And get phenotypic screening with echo and EKG. And it’s also two a recommendation for patients with idiopathic dilated cardiomyopathy to get genetic testing.
Did I miss anything that you wanted to relay that I should have asked you?
Hofmeyer: I think everybody already knows that heart failure is common. I think everybody already knows that heart disease is common. I don’t know that we need to talk about epidemiologic statistics. I don’t think those are.
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:
So Young Pak
Sign up for a free weekly e-mail on Medical Breakthroughs called First to Know by clicking here
