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New Medications Changing Care for Rare Heart Conditions · Meaningful Medicine with Novant Health

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  Nolan Alexander (Host): Meaningful Medicine is a Novant Health podcast,
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  bringing you access to leading doctors who answer questions they wish you would ask.
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  From routine care to rare conditions, our physicians offer tips to navigate medical
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  decisions and build a healthier future.
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  I'm Nolan Alexander.
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  And today, we're speaking with Dr.
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  Zachary Garrett, a cardiologist, and Tucker Johnson, a nurse practitioner,
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  to discuss rare heart diseases.
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  First, though, gentlemen, how are you today?
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  Zachary Garrett, MD: Doing great, Nolan.
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  Thanks so much for having us on.
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  Tucker Jonhson, FNP: Yeah.
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  Nolan, it's a balmy 95 degrees here in Wilmington.
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  So, it's good to be inside doing this.
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  Host: Don't worry, this podcast will stay inside the entire time.
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  Hopefully, you don't break a sweat.
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  Dr.
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  Garrett, many listeners, they're familiar with some of the more
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  common heart concerns, right?
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  Like blocked arteries or rhythm problems such as AFib.
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  I understand, though, you focus on rare diseases.
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  What are some of those issues that you treat?
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  Zachary Garrett, MD: So, there's two issues we predominantly focus on.
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  The first of which is called cardiac amyloidosis, and the second is something
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  called hypertrophic cardiomyopathy.
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  We could spend hours talking about both of these, but kind of giving an overview
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  of these with cardiac amyloidosis, this is a problem in which our body
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  creates these abnormal proteins.
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  Our body creates all kinds of proteins naturally, but what can happen is
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  that that process can go awry and you get these proteins that are mismade
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  and they can stick to one another.
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  And then when they do that, they can start to build up in our body where
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  the body can't break them back down.
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  They can start to build up in the heart, the nerves, joints,
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  and different locations.
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  And so, that's where it can really start to cause problems
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  and heart-related issues.
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  The second of which we manage is something called hypertrophic cardiomyopathy.
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  This is something that tends to be genetic and causes the heart to
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  become thickened and can start to cause issues with the heart because
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  of this thickening and everything.
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  And so, even though we call these rare, they're more or less uncommon
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  than what we really thought they were.
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  And so, they're just not something that we typically see on a day-to-day
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  basis within your normal clinic or normal cardiology clinic.
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  And so, what we really did is about three to four years ago, Tucker and
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  I created this rare disease clinic, and then added a third physician
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  assistant, Carolyn Crocker, last year.
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  But we created this clinic to really help streamline the identification,
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  the diagnosis of patients with these more uncommon issues, and also
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  help improve the quality in which they're treated and then managed.
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  And a lot of these patients that, you know, beforehand probably would've
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  been referred elsewhere to specialists that they would have traveled
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  long distances to see and had the complications of having to travel and
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  to be able to see specialists, get the treatments and everything else.
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  And so, it's really been helpful to be able to focus these patients and
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  see these people with these more rare conditions and everything.
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  So, a couple of things that we do within this clinic as well, is provide a lot
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  of education to our partners and help them identify these patients that need
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  further testing and further screening, and also helping them to understand what
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  new treatments are available and what's out there for these patients and really
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  kind of what we can offer and everything to improve their quality of life.
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  Host: So, what I'm understanding there, local access, more screening,
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  more knowledge of treatment options?
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  Zachary Garrett, MD: Absolutely.
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  Especially over time, as we've really learned more and more about
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  these conditions, particularly something like cardiac amyloid.
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  This was something that we 10, 15 years ago did not know very much about.
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  And you see the amount of research and the amount that we've actually learned and the
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  knowledge that we have of this has really exploded within the past several years.
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  Previously, over the past five to 10 years, we've had one treatment for this.
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  Now, we have three FDA-approved treatments with more that are
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  probably, hopefully, on the horizon within these next couple of years.
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  Hypertrophic cardiomyopathy itself has also had significant advancements in
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  treatment to where before really we had to focus on surgical interventions
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  for a lot of these patients in order to improve quality, and now we have
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  new medicines and everything too.
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  And so, there's really been a lot of expansion of knowledge and
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  everything within these conditions.
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  And when we have this type of a clinic that specializes and focuses on these
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  things, allows us to really take that time, spend the time educating
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  patients, take the time for them to make sure they understand what we're
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  looking for, and then if we found it, how we're treating this and what things
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  look like going forward for them.
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  And then, providing them access to treatments that they otherwise would
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  not been able to get; working, you know, within our clinic, working
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  specifically with our pharmacists in kind of really a multidisciplinary
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  fashion to get these patients treated.
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  Host: So Tucker, tell me a little bit more about what Dr.
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  Garrett just said there.
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  What are some of the treatment options that are available?
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  Tucker Jonhson, FNP: Treatment options are very disease specific.
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  So within our cardiac amyloidosis space, it really depends on the type
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  of cardiac amyloidosis the patient has will determine their treatment path.
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  So, our job in this clinic is to identify what type of cardiac
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  amyloidosis we believe the patient has, nail the diagnosis, and then
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  get them on the appropriate therapy.
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  So, a lot of the current therapies, at least the mainstay of cardiac
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  amyloidosis treatment, is a drug called tafamidis, was FDA approved in 2018.
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  And this drug in particular was aimed at, you know, stabilizing these proteins.
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  What happens, as Zach alluded to earlier, is this TTR is
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  a protein your liver makes.
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  Everyone's liver makes this protein.
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  It's a carrier protein.
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  What happens in the disease state is it becomes unstable, breaks down, and
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  then stacks up in an unusual form.
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  And so this drug was aimed at keeping that protein stable.
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  It's an oral drug.
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  You take it once a day.
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  Because it's so disease specific, there's essentially no drug-drug interactions
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  and very few if no side effects.
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  And it really helped improve quality of life and longevity for patients.
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  So, following tafamidis in 2018, another stabilizer was given FDA approval in
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  2024, a drug called acoramidis, also oral.
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  You take it twice a day.
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  Very similar, treatment response, very similar sort of pharmaceutical profile
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  as far as its mechanism of action.
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  And then, there kind of is another sort of mechanism of action in
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  what we would call gene silencers.
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  So, cardiac amyloidosis, once diagnosed, if you have true TTR, which is these
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  abnormal proteins coming from the liver, there is what we call silencers.
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  So, it helps to tell the liver, "Hey, let's just not make this protein."
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  And so, what happens is, you know, for folks that have either a hereditary
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  type cardiac amyloidosis because there is a sort of hereditary expressive
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  phenotype, for folks that have that, this drug was already available,
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  if you have that and what we call polyneuropathy, which is a kind of a
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  secondary expression of amyloidosis.
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  These are injections that people get.
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  Depending on the formulary, there's now two different drugs
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  sort of in this space that sort of treat down this similar pathway.
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  One is an infusion every three weeks.
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  So, a lot of options in the amyloidosis sort of space,
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  specifically with TTR, which is great.
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  And a lot of new exciting things coming down the pipeline.
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  Current therapies really target disease stabilization, and kind of just holding
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  folks where they're at, which is great, because before there was nothing.
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  But coming down the pipeline, there's some kind of cool potential options
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  that are sort of getting fast-tracked from the FDA as far as research goes.
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  Outside of amyloidosis, if we think about hypertrophic cardiomyopathy, like Zach
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  alluded to, typically, we would sort of borrow from the heart failure space
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  and some of those meds that we would use to manage, really mostly targeting
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  that lowering heart rate and helping to reduce the heart's contractility,
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  because the symptoms from hypertrophic cardiomyopathy usually come from the
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  sort of hyperdynamic state, and just the disruption of hemodynamic flow from the
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  heart's pumping function out to the body.
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  And so, now we have some medications that do a much better job at that.
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  And so, that's pretty exciting for patients that aren't good surgical
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  candidates, for folks that wouldn't tolerate open heart surgery well,
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  because, you know, that was essentially the gold standard for these folks.
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  But now, there's medication options so people can kind of get that care local.
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  They don't need to travel to academic centers or out of state to sort of
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  see these, you know, specialists.
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  Some of them still do, and some are still appropriate for that,
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  but we're able to take care of them locally, which is really cool.
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  Host: What else is important with how you work in the clinic to support
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  patients in these rare issues besides the treatment options that you just laid out?
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  Tucker Jonhson, FNP: Yeah, really, you know, that's a good question, Nolan.
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  Thanks.
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  I think what's probably most important is the education piece, you know,
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  helping them to understand the disease state, things that they can do from
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  a lifestyle perspective that can help modify the disease state and then,
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  also just longitudinal care, kind of tracking them through the disease state.
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  So, I think that's really beneficial, having those patients
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  sort of siloed under our care.
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  We're able sort of to kind of see some of these other things that are
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  pretty common with these disease states and kind of help catch them
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  early and get them in front of the right subspecialists, you know.
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  I think specifically with our amyloid patients, high risk for conduction
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  disease, needing pacemakers, high risk for arrhythmias like atrial fibrillation, and
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  they tend to have more issues with those other problems, meaning more symptoms,
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  higher risk for stroke with AFib.
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  So, kind of by us knowing them, identifying them, we're tracking
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  these things and kind of addressing those other issues a bit,
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  more urgently as they come up.
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  Zachary Garrett, MD: I think the other thing too is that, a lot of these
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  conditions we kind of talked about, both of these do have some degree
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  of inheritability within families, particularly with, something called TTR
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  amyloidosis, which can be hereditary.
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  One form of it can just happen just because in older age, usually
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  beyond the sixth decade of life.
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  But there are people that can have hereditary variations of this.
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  And then, also with hypertrophic cardiomyopathy, it does tend to
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  be genetic and run in families.
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  Within this clinic, we do offer genetic testing, and we're able to
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  help identify gene mutations that may cause these issues to where we
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  can help family members get screened.
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  And that way, we're not just taking care of the patient themselves, but we're
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  taking care of families and helping identify these patients and help them
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  find family members that may have the potential to develop this and get them
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  identified much sooner in that way that we're able to get them on appropriate
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  treatments and everything and watch for the things that we need to be doing before
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  they even may develop full, complete, you know, clinical development of the disease.
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  That's another big part of, I think, what we do is the
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  genetic testing is a big help.
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  Host: So building off of that, Dr.
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  Garrett, what are some other risk factors and even prevention methods
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  that are available for some of these uncommon diseases that you see?
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  Zachary Garrett, MD: Unfortunately, there's not really much that can be
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  done to prevent any of these diseases.
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  As of right now, there's not a lot from an environmental perspective or
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  something extrinsic to what someone can do or something that they do
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  that will cause these type of things.
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  At this point, most of them can be genetic or inheritable.
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  Some of them just happened for unknown reasons at this point.
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  We've not identified things within that would increase the
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  risk of it developing in someone.
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  Now, certainly living a healthy lifestyle, making sure that, you know, someone is
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  maintaining a good diet, regular exercise, healthy weight, and all these type of
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  things are helpful and beneficial just in general, but would not necessarily
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  prevent from one of these things from happening or one of these conditions.
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  Really, the focus is that if someone were to develop symptoms and things that would
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  go along with these, cardiac amyloidosis, the problem with cardiac amyloidosis
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  is that it tends to cause a multitude
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  of different symptoms that are pretty common, especially when we're talking
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  about people that are in their 60s to 80s, things like carpal tunnel syndrome, back
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  disease like lumbar stenosis, neuropathy, heart failure, atrial fibrillation.
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  These are pretty common things to happen as we advance in age.
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  But it's really all these things get tied together, and it's not really
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  until you kind of take ten steps back and look at everything as a whole
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  that you say, "Maybe amyloid actually links all these things together."
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  Whereas with hypertrophic cardiomyopathy, it can present
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  at many different times of life.
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  It can present very early in life, it can present very late in life.
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  And it also can create different spectrum of symptoms.
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  And so, there are people that are very young, 15 to 20 range, that
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  have the development of hypertrophic cardiomyopathy and be very symptomatic.
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  Shortness of breath, dizziness, abnormal heart rhythms or it may be
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  something that we find incidentally in somebody that's 80 years old
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  and never had a problem with this.
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  And so, it can be a very wide spectrum than what you see under a thing.
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  But ultimately, what it comes down to is there's not a lot that people can
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  do to really prevent it or anything.
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  But if they were to have such type of symptoms, seeing your provider,
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  making sure that they're, you know, being assessed for things and
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  particularly if having some of these things that kind of go along with
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  this is having that high suspicion and proceeding with appropriate testing.
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  Host: So speaking of that, you know, we've been educated for heart attack symptoms
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  for years, but what are the symptoms of one of these more rare heart diseases?
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  Zachary Garrett, MD: Yeah.
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  So with hypertrophic cardiomyopathy, there are a couple different things
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  that can happen and cause symptoms.
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  The predominant symptom is typically shortness of breath.
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  The heart becomes so thick that it actually can either cause the heart to
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  become very stiff, or it can actually obstruct the blood flow out of the heart.
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  And by doing so, it can cause exertional symptoms, shortness of breath, dizziness.
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  Sometimes it doesn't really cause so much shortness of breath, but sometimes
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  it can cause abnormal heart rhythms or arrhythmias, which is really one
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  of the more concerning things that can happen with hypertrophic cardiomyopathy.
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  Now, a lot of times with those symptoms, it will tend to drive somebody to seek
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  assessment for those type of things.
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  And with testing like ultrasounds of the heart, where we take pictures of
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  the heart, look at the heart, it allows us to see this thickening and make a
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  diagnosis of hypertrophic cardiomyopathy.
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  Whereas amyloid, as kind of we've mentioned, amyloid's
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  a little more non-specific.
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  Amyloid, because it affects so many different parts of the body and so
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  many different organs, affecting joints, the nerves, the heart,
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  it's really hard to have one specific type of symptom that goes along with this.
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  When it affects the heart, it can cause things like heart failure, abnormal
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  heart rhythms, atrial fibrillation.
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  Sometimes it can cause problems with slowing of the heart rhythm,
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  where it can cause things like heart block and the need for a pacemaker.
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  When it affects the joints, it can cause things like arthritis, can
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  cause carpal tunnel syndrome, can involve the back and cause narrowing
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  of the back and lumbar stenosis.
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  A lot of times the more musculoskeletal type things that go along with this, the
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  arthritis, the back, the carpal tunnel, these things tend to kind of predate a
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  lot of the heart-related symptoms, usually about six to seven years or so beforehand.
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  And then, you really kind of start to see more of the heart-related
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  manifestations with these.
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  Host: Well, you're both so passionate about the topic today, and I can
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  tell this means something to you.
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  So as we prepare to close, I'm curious, how did this specialty
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  become a passion of yours?
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  Starting with you, Dr.
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  Garrett.
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  Zachary Garrett, MD: When, I was in training, again, there really wasn't
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  a ton known about this, and there wasn't a lot of great treatments
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  for a lot of these conditions.
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  And so, throughout that time, as things started to come in online where we
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  started having more treatment options and things to help people live better
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  and live longer, that's where it really started to become interesting
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  to where we were able to take something that before we had pretty limited
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  options in really both of these.
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  Either limited options that just we didn't have anything to help treat
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  with or the treatments just were very invasive and, you know, were things
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  that patients had to really go through a big process in order to treat.
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  And so now, with having treatments and everything else, and being able to
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  diagnose and with our learning of how to find these things and how to treat
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  these things, it's really where it became an interest of mine of, being able to
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  help these people and help patients that really before did not have much in
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  the way of options to where now we're able to really help with their quality
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  of life and really make an impact.
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  Tucker Jonhson, FNP: For me, early in my career as a nurse practitioner, I realized
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  I love solving clinical puzzles, and amyloidosis in
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  particular is a clinical puzzle.
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  And so, kind of being able to find what we would coin unifying diagnosis
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  to kind of help tie together a bunch of different clinical symptoms and
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  different disease states is really satisfying because then patients really
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  feel like, "Ah, it was that all along."
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  And so, I think being able to offer those answers to patients is really
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  fulfilling and being able to give someone a meaningful extension of
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  their quality of life and quantity of life through, "Hey, take this pill
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  once a day, and you will actually live longer and feel better," I think that's
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  incredibly satisfying as a clinician.
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  So, that's sort of what drew me into it, I guess, is the mystery
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  of the disease state, identifying the disease state, and then helping
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  people get on the right treatment.
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  Host: Well, I loved hearing your stories, and we learned so much today.
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  Gentlemen, thank you very much for your time and insight.
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  Zachary Garrett, MD: Thanks, Nolan.
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  Tucker Jonhson, FNP: Yeah.
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  Thanks for having us, Nolan
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  Host: That was Dr.
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  Zachary Garrett and nurse practitioner Tucker Johnson.
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  To find a physician, visit novanthealth.org.
• 18:50
  For more health and wellness information from our experts,
• 18:54
  visit healthyheadlines.org.