Scott Webb (Host): Hypertrophic cardiomyopathy or HCM, is a genetic heart condition that can affect our quality of life and even lead to death if we aren't diagnosed and treated by experts who specialize in treating HCM. And I'm joined by one of those experts today. Dr. Dan Musat is here. He's the Associate Director of Electrophysiology at the Valley Hospital and Director of Electrophysiology Research for the Valley Health System.

 Welcome to Conversations Like No Other, Heart Care, presented by the Heart and Vascular Institute of Valley Health System in Paramus, New Jersey. Our podcast goes beyond broad everyday cardiac topics to discuss very real and very specific subjects that impact your heart health. We think you'll enjoy our fresh take. I'm Scott Webb. Thanks for listening.

Doctor, it's great to have you here today. I've been excited to learn more about this. So let's start there. What is hypertrophic cardiomyopathy and how does it affect the heart?

Dan Musat, MD: Hypertrophic cardiomyopathy is a genetically transmitted disease found in about one in 500 people. This genetic abnormality involving myocardial cells, leads to localized areas of thickening of the heart of the muscle in the left ventricle, the main pumping chamber of the heart and a localized thickness of more than 15 millimeters of any cardiac wall in the absence of other identifiable causes is diagnostic for hypertrophic cardiomyopathy. In the classic form of hypertrophic cardiomyopathy, the area of thickening is at the base of the septum in between the left and the right ventricle, and that's resulting in increased pressure in the lungs and impaired exchange of oxygen from the lungs to the blood, leading to symptoms of heart failure, like shortness of breath and dyspnea on exertion.

Host: Doctor, let's get into diagnosis. Maybe the process or the pillars, if you will.

Dan Musat, MD: So when the patient is diagnosed with hypertrophic cardiomyopathy should have an evaluation that includes like five pillars. First to define the hypertrophic cardiomyopathy phenotype, if obstructive or non-obstructive, that will define the future treatment. Second, evaluation for risk for sudden cardiac death, as these patients might have an increased risk for sudden cardiac death and discuss genetic counseling and genetic testing with the knowledge that this is a genetically transmitted disease.

Screening of patients diagnosed with hypertrophic cardiomyopathy is important. And, they should have a discussion about physical activity levels and if they should consider or not participation in athletic sports.

So let's discuss about each pillar. So the diagnosis of hypertrophic cardiomyopathy usually starts with an ECG that raises suspicion of this disease and the imaging of the heart, including an echocardiogram or cardiac MRI usually confirms the diagnosis. They also can find if the patient have the obstructions, or not.

There are two types of hypertrophic cardiomyopathy, obstructive hypertrophic cardiomyopathy and also non-obstructive hypertrophic cardiomyopathy. The treatment for patients with obstructions is geared towards the reduction of obstruction and the patients with non-obstructive cardiomyopathy, the treatment should be geared towards the symptoms of heart failure. Also, genetic testing should be offered to anybody diagnosed with hypertrophic cardiomyopathy.

This having implications in diagnosis of family members and the future family planning with the knowledge that the genes are transmitted to off springs. Family scaling. Also, it's important for patients who have hypertrophic cardiomyopathy, their family should be screened with an EKG, with or an echocardiogram periodically.

And regarding physical activity, always exercise is beneficial for all cardiac conditions, including hypertrophic cardiomyopathy. But patients who would like to get involved in competitive sports and the similar of exercise should have a discussion, thorough discussion with their physicians about risks and benefits before they consider this.

Host: All right, Doctor, so I feel like in doing my research that folks might mistake HCM symptoms for anxiety or maybe just being outta shape, right? So what are the warning signs we should be on the lookout for?

Dan Musat, MD: Scott, indeed, many patients with hypertrophic cardiomyopathy develop nonspecific symptoms like shortness of breath, dyspnea on exertion, dizziness. But there are some specific symptoms for patients with hypertrophic cardiomyopathy who have obstruction, that they should look for like, feeling fatigue and exhausted after a big meal, or getting short of breath while going up on an incline or even feeling dizzy or passing out while dehydrating or after drinking alcohol.

Also patients with obstructive hypertrophic cardiomyopathy, they have a specific murmur that is getting louder with some maneuvers like Valsalva maneuvers, while taking a deep breath and bearing down. Sometimes patient feels some jittery sensation, feeling anxious, like having a panic attack, chest flutterings.

Host: Yeah. And I know that hypertrophic cardiomyopathy can be a silent condition, if you will. So wondering, based on your experiences and expertise and all that good stuff, how can someone who feels fine still be at risk? And why is early diagnosis so important?

Dan Musat, MD: Unfortunately, sometimes the first symptoms of hypertrophic cardiomyopathy could be sudden cardiac death, especially in young people. Hypertrophic cardiomyopathy is the leading cause of death in young athletes. I think everybody remembers Reggie Lewis, an all star captain of the Boston Celtics, who while playing, at the Boston Garden on April 29th, 1993, he suddenly collapsed during a basketball game.

Then he woke up and slowly got off the court. He went on and had the cardiac evaluation. Was diagnosed with hypertrophic cardiomyopathy and he was told that he cannot play again. He could not believe this. He fought the diagnosis and found one of cardiologists who concluded that he has been suffering from benign fainting and allowed him to play.

Host: Mm-hmm.

Dan Musat, MD: Very sadly, only a few months later on July 27th, 1993, he passed out again during a practice game, but this time he never woke up. So it is never too early to make a diagnosis of hypertrophic cardiomyopathy. Many patients can live for many years without even knowing that they have hypertrophic cardiomyopathy. However, if it's any hint of symptoms or symptoms of hypertrophic cardiomyopathy, they should look into this as soon as possible.

Host: Yeah, it's rare Doctor that I have an expert on, whether we're talking about the heart or cancer, whatever it is. You know, it's rare that they ever say that delaying diagnosis is a good thing. It's always about early diagnosis, prevention, those kinds of things. And I remember all too well, unfortunately, the Reggie Lewis story. So let's talk treatment options, and how do you manage the condition?

Dan Musat, MD: Treatment for hypertrophic cardiomyopathy is multifaceted, very complex and should be individualized for each patient. Patient with hypertrophic cardiomyopathy should be referred and evaluated and treated in centers with expertise in treating patients with hypertrophic cardiomyopathy and has been shown that patients, treated in this centers including multiple specialty teams, with cardiac imaging, heart failure specialists, cardiac surgeons, electrophysiologists and interventional cardiologists have a better outcome than, treated in other centers.

We are lucky to be in an era with new developments for treatment of hypertrophic cardiomyopathy. We have many options for hypertrophic cardiomyopathy treatment, including medical treatment, surgical treatment, interventional treatments with a goal of, septal myocardial reduction.

About two thirds of the patients nowadays can be treated with medication. Of course, if, patients cannot tolerate or do not respond to medical treatment, surgical myectomy for hypertrophic cardiomyopathy, is an option.

And it is a complex and challenging surgery. And for that, the recommendation is this should be performed by surgeons familiar and specialized in hypertrophic cardiomyopathy. If patients, uh, have significant comorbidities, elderly people, and are not deemed to be a good candidate for surgery, another interventional procedure can be considered is alcohol septal ablation, where some alcohol is injected into an artery at the septal bulge there. And, it actually results in a supervised heart attack, which in time will decrease the thickness of the septum and improve the symptoms.

Some patients deemed at high risk for sudden cardiac death will benefit from ICD therapy. And with adequate evaluation and treatment, the life expectancy of patients with hypertrophic cardiomyopathy is similar to people without hypertrophic cardiomyopathy.

Host: Interesting. Yeah, I always like hearing that, the experts, the doctors, the surgeons, whomever, has a lot of tools in the toolbox. And so you're talking about frontline treatment, medications, potentially surgery. Lots to take in here today. And you touched on earlier exercise and physical activity. So I wanted to give you a chance to talk about maybe some of the lifestyle changes so that folks can live well with HCM.

Dan Musat, MD: Indeed, like for all cardiac conditions kind of everything in moderation is recommended with a healthy lifestyle, including a good sleep at night, over at least like six hours. Adequate hydration, adequate maintenance of weight, and the good balance of the diet, maintaining good weight.

Also exercising regularly helps people a lot with hypertrophic cardiomyopathy and they should have a regular, follow-up with a hypertrophic cardiomyopathy specialist. Take the medications required to treat the condition, and should have also regular evaluation, periodic evaluation of progress of disease and risk for sudden cardiac death.

It is always better to do prevention and treat the earlier phases of disease. And people who have family members with hypertrophic cardiomyopathy, then should be proceeding with a screening protocol to evaluate and uh, detect early stages of diseases.

Host: Yeah. As you mentioned, there is, uh, basically a genetic disease, right? So, all the points to underscore today of prevention, early diagnosis, early treatment, and speaking of treatment, I'm sure things have changed a lot, Doc, you know, there's a lot of advancements, of course, I don't need to tell you.

So when we think about the advancements in medical technology, just how has the understanding and treatment of HCM evolved over the years?

Dan Musat, MD: You are very right Scott. Nowadays, we are witnessing a revolutionary advancements in evaluation and treatment of all cardiac diseases, including hypertrophic cardiomyopathy. In the past few years, we have a new class medication, as I mentioned before, that is specific for the hypertrophic cardiomyopathy disease, which we never had this before.

And we are witnessing new developments in surgical techniques with a surgical device that is capable of doing the septal myectomy on a beating heart. And, the patient has more effective surgery with much better results. And the recovery is remarkable. And as AI has become ubiquitous in the medical field, nowadays we have possibility to have AI algorithms to screen 12 lead EKGs to identify hypertrophic cardiomyopathy patients that are not aware of the this disease. And, this could lead to further screening and evaluation. And also, there in developments, new AI algorithms for, uh, long-term monitoring for the progression of the disease. So we are living in a really exciting era for developing and the treatment of hypertrophic cardiomyopathy.

Host: Yeah, I've been learning a lot lately from experts Doctor, about AI and how it's being used in medicine and surgeries, and that would be maybe an entirely separate podcast, but it's very exciting and it does sound to me as we wrap up here, Doctor, that folks can live well with HCM. Right? Again, early diagnosis, treatment, all of that.

So if you had one piece of advice that you want to share with folks who have yet to be diagnosed, recently diagnosed, or living with HCM, what would it be?

Dan Musat, MD: One piece of the advice is that if you have symptoms concerning of hypertrophic cardiomyopathy, do not ignore them. Go and be evaluated and investigate further. And if they are diagnosed with hypertrophic cardiomyopathy should go to specialized centers, that are treating hypertrophic cardiomyopathy for further management.  

Host: Yeah, that's great. You know, I feel like, especially with a topic like this, we're only really going to scratch the surface here in a podcast, but hopefully we've given folks the headlines, the inspiration, especially if they have a family history to, you know, speak with a provider, experts like yourself. So really appreciate your time, your expertise.

Thanks so much.

Dan Musat, MD: Thank you much, Scott.

Host: Thanks for joining us on this episode of Conversations Like No Other, Heart Care. We hope today's discussion on cardiovascular health has been helpful. Remember, your heart is at the center of your overall well-being, and it's never too early to start taking care of it. Don't forget to subscribe and share this episode with loved ones. For more resources on heart health, visit valleyhealth.com/heart.