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Cardiomyopathy in Children: What Pediatricians Need to Know · Pediatrics in Practice: A CME Podcast

• 0:03
  Dr Mike Smith (Host): Welcome to Pediatrics in Practice, A CME podcast.
• 0:07
  I'm Dr.
• 0:07
  Mike, and joining me today is Dr.
• 0:09
  Brian Burnbaum from Children's Mercy, and today we'll dive into
• 0:14
  an important topic, cardiomyopathy in children, what pediatricians.
• 0:20
  Need to know.
• 0:21
  Dr.
• 0:22
  Birnbaum, welcome to the show.
• 0:24
  to start off, how do cardiomyopathies differ in adults versus kids and why is
• 0:32
  it important for general pediatricians to kind of think about these differences?
• 0:38
  Dr Brian Birnbaum: Yeah.
• 0:38
  Thanks for having me, Mike.
• 0:40
  so, cardiomyopathies in kids, I think the biggest difference is the presentation.
• 0:47
  As well as the underlying cause.
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  in adults, a lot of cardiomyopathies are caused by ischemic heart disease
• 0:53
  and develop over time in kids.
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  The issue really is that it can develop a little bit more rapidly, or at
• 1:01
  least the symptoms can come about more rapidly than what we see in adults.
• 1:06
  One of the really important things to realize when we talk about
• 1:09
  cardiomyopathies is that there are a lot of different cardiomyopathies, or
• 1:12
  I really think of it as three different cardiomyopathies, and because of that,
• 1:16
  the symptoms differ between the three cardiomyopathies And the presentation,
• 1:21
  differs between kids and adults for each of those three cardiomyopathies as well.
• 1:25
  Dr Mike Smith (Host): I wanna get into some of the early signs of
• 1:29
  cardiomyopathy in kids, but before we do that, you know, since you
• 1:33
  mentioned there's different types of myopathies here, cardiomyopathies,
• 1:38
  how do you explain each one of those three to patient's and parents?
• 1:42
  Dr Brian Birnbaum: Yeah.
• 1:43
  So really it's based upon which one of those cardiomyopathies the
• 1:47
  child has or which one of those cardiomyopathies is present in the
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  family, that we're screening for.
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  And so when we think about it, really, there's dilated
• 1:56
  cardiomyopathy, which means the heart is enlarged and not squeezing.
• 1:59
  Well, there's hypertrophic cardiomyopathy, which means that the heart is really
• 2:03
  thick, and sometimes squeezing too well and blocking that blood flow
• 2:07
  coming out of the left ventricle.
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  And then there's restrictive cardiomyopathy, which I usually
• 2:12
  think of as, more of an issue of getting the blood in, to the pump.
• 2:15
  So you have a, a pump And the pump isn't working, not because it
• 2:18
  can't effectively pump blood out.
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  Because it can't get blood in the way that it's supposed to.
• 2:23
  And so I tried to explain based upon which of those cardiomyopathies the patient or
• 2:27
  the family has, what symptoms And what signs the patient needs to look for.
• 2:32
  Dr Mike Smith (Host): Do you use a lot of pictures and images to
• 2:35
  help you explain this to parents?
• 2:38
  Dr Brian Birnbaum: Yeah.
• 2:38
  We do typically try to, show 'em a, a diagram of a normal heart or a model
• 2:42
  of a normal heart And then a model of.
• 2:45
  Their child's heart, so they have some idea of kind of what's different about
• 2:50
  their child's heart And what we're trying to, help prevent from, progressing or
• 2:55
  worsening, or what we're trying to treat Sometimes with surgery, for example.
• 2:59
  Dr Mike Smith (Host): What are some of the early signs or red flags of
• 3:02
  cardiomyopathy that pediatricians might notice in primary care settings?
• 3:10
  Dr Brian Birnbaum: Yeah, so I think the most important sign to look for,
• 3:14
  which is possibly present in all three of those cardiomyopathies.
• 3:17
  Would be, syncope or near syncope.
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  and it presents for different reasons in each of those cardiomyopathies, but it's
• 3:25
  often related to an arrhythmia that can be present in those cardiomyopathies.
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  So patient's who have, syncope, especially with exertion, is gonna be something
• 3:33
  that we're gonna wanna hear about or have, referred to cardiology because
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  that's a, a definite red flag for us.
• 3:39
  For our dilated cardiomyopathy patient's, a lot of times if they're not presenting
• 3:44
  with syncope, they're in fact more frequently, they're not presenting with
• 3:47
  syncope, but rather they're presenting with fatigue and tiredness and really
• 3:52
  not keeping up with their peers.
• 3:55
  I usually try to explain that to parents that your child is sort of
• 3:59
  falling off from where they were at.
• 4:00
  A lot of children, you know, they'll have good days or bad days, and
• 4:03
  there's always kids that are faster and there's kids that are slower.
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  But if you see where your child typically falls, in a group of children, and all
• 4:10
  of a sudden they're starting to fall behind, that's when we start getting
• 4:13
  more worried about something like dilated cardiomyopathy where maybe their heart's
• 4:17
  not efficient enough at pumping blood.
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  For the hypertrophic cardiomyopathy patient's, again, arrhythmias and syncope
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  are one of the bigger presenting signs, but, a lot of those patient's are, are,
• 4:28
  generally healthy and, and if they're not having syncope, or chest pain, is
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  another, not uncommon presentation.
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  they're often presenting with a heart murmur that's, appreciated by the
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  pediatrician and it's usually a very harsh systolic, ejection murmur.
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  And so, you know, if there's a change in that murmur, especially, we'd
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  want to have that patient seen by cardiology and evaluated by cardiology.
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  And then our restrictive patient's are, are actually one of the tougher groups.
• 4:53
  They, tend to be a little bit slower in terms of their presentation and much more
• 4:58
  gradual in terms of developing symptoms.
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  often they'll be a little bit more fatigued or a little bit more tired
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  with activity than what they had been.
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  But again, it's very, very gradual.
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  many of those patient's do develop a wet cough that comes from basically those
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  pressures that are elevating in their left ventricle and their left atrium
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  transmitting back to the lungs and causing some component of pulmonary edema.
• 5:23
  Dr Mike Smith (Host): Are there specific symptoms of pediatric
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  cardiomyopathy that are often subtle?
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  Like you've mentioned, the murmur getting worse, syncope.
• 5:31
  aren't that subtle, but are there some things that maybe the primary care
• 5:35
  doctor's not gonna recognize right away as a potential cardiomyopathy?
• 5:40
  Dr Brian Birnbaum: Absolutely, and especially when we talk about fatigue
• 5:43
  and, that tiredness component, that's something that a lot of families don't
• 5:47
  recognize when it initially starts, and it, happens over time, or the pediatrician
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  may not recognize it over time.
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  the other real subtle signs I would say would be the heart sounds
• 5:58
  during the physical examination.
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  Which, I think it's really hard for a pediatrician in the office to have a
• 6:05
  real clean examination sometimes, or a real clear examination when you're
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  listening for very subtle changes such as a sharp S two that occurs with
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  restrictive cardiomyopathy, for example, or occasionally a Gallup that'll occur
• 6:17
  with the dilated cardiomyopathy patient's.
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  So, a lot of times there are things that are much more subtle.
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  and it, comes down to sort of putting the whole picture together, and
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  realizing when you have a patient that maybe is a little bit more
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  tired, that their parents are noticing things, maybe has that new murmur.
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  and just, having a high index of suspicion that, cardiomyopathy
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  could be one of the causes.
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  Dr Mike Smith (Host): You mentioned before that in children, you know,
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  symptoms, tend to develop or they'll present with symptoms a lot sooner
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  than say, adults with cardiomyopathy.
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  What kind of timeframe are we talking about here between the development of a
• 6:53
  cardiomyopathy and symptom presentation?
• 6:58
  Dr Brian Birnbaum: So that, can really be anywhere from, days to.
• 7:03
  what's really, I think, difficult with, kids is there's, in terms of
• 7:08
  diagnosing cardiomyopathies, is that they're so resilient and they work so
• 7:11
  hard and they will do everything they can to keep up with their friends.
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  And so a lot of times they are able to minimize their symptoms or
• 7:19
  they're able to kind of push beyond what they were normally doing before
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  to keep up with their friends.
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  It's not uncommon that our patient's are first diagnosed with a cardiomyopathy when
• 7:29
  something, what we call tips them over.
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  And so in our babies, a lot of times that's, for example, a viral infection.
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  So they'll have a dilated cardiomyopathy and they do great for months or
• 7:42
  years And then they get a viral infection and they just can't keep up
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  after getting that viral infection.
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  So a lot of times it is a matter of.
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  when you're asking your body to do more than it's previously capable of doing.
• 7:55
  Dr Mike Smith (Host): Now, when should a pediatrician consider
• 7:58
  further workup versus say, referral to a specialist like you?
• 8:04
  and when you do see the patient, what are gonna be some of those
• 8:07
  initial tests you might perform?
• 8:09
  Dr Brian Birnbaum: Yeah, so I think it's is very nuanced in terms of whether to a
• 8:13
  workup or refer to cardiology, and it's really never wrong to refer to cardiology.
• 8:19
  we, on the cardiology side, certainly any patient where there's a, strong family
• 8:23
  history or any of those, more concerning symptoms such as syncope or chest pain,
• 8:28
  would wanna see those patient's and, rule out cardiomyopathies in them.
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  but for patient's that maybe the symptoms are a little bit more subtle
• 8:36
  and they have a little bit more fatigue that say it could be related to a
• 8:40
  cardiomyopathy or it could be related to.
• 8:42
  Some other cause.
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  I think that Those are, times that continuing the workup as a
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  pediatrician with, basic lab work and, that we usually think of as,
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  looking at end organ function, A BMP, LFTs, you know, CBC to make sure
• 8:55
  that they're not anemic as a cause.
• 8:57
  And then adding on an N NT Pro BNP or A-A-B-N-P that's brain ntri tic peptide,
• 9:03
  can be helpful in kind of delineating could there be a cardiomyopathy or a
• 9:06
  cardiac cause to their symptomatology.
• 9:10
  Dr Mike Smith (Host): What about genetic testing?
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  how has that changed things for you?
• 9:14
  Dr Brian Birnbaum: I'll tell you, genetic testing's been a, an absolute
• 9:16
  game-changer, and we're still, learning a lot about how best to utilize it,
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  and it's definitely a moving target.
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  the tough thing with genetic testing is that it's not perfect if you don't
• 9:27
  have a gene identified in the family.
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  So in our patient's who don't have any family history of a
• 9:34
  cardiomyopathy, who have a definitive cardiomyopathy themselves, only
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  around 50 to 60% of them will have a gene that we're able to identify.
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  And what that means is that if we don't have that gene identified in somebody.
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  Beforehand, and a patient comes in or you're screening a family member and they
• 9:53
  test negative, you may not know whether or not they have the disease or have that
• 9:58
  gene or whether you just have a false negative because we don't have all the
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  answers when it comes to genetic testing.
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  Um, the genetic testing.
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  The other thing that's really interesting about it is that I mentioned
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  that there's, Really three types of cardiomyopathies that we look at.
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  And sometimes the, genes that cause one cardiomyopathy and one
• 10:16
  person in the family can cause a different cardiomyopathy and a
• 10:20
  different person in the family.
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  So we're still learning a lot more about how these genes function.
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  And so we have some patient's that, will have a parent that was a
• 10:28
  hypertrophic cardiomyopathy patient, And the patient themselves is a
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  dilated cardiomyopathy patient.
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  And that doesn't even get into kind of some of the other,
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  genetic syndromes that go with cardiomyopathy, such as nonan syndrome.
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  Dr Mike Smith (Host): it is fascinating, isn't it?
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  And I think we're learning more and more just about how personalized
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  disease is, you could take the same gene in two patient's, you
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  have a cardiomyopathy, but that cardiomyopathy can act very differently.
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  And in those two individuals.
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  So learning not just the genetics or the genes involved, but those
• 11:04
  subtle changes in those genes, how they can actually, impact, diagnosis,
• 11:08
  prognosis, treatment, all that.
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  it's absolutely fascinating and I'm sure, like me, you're excited
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  to see where all This is gonna go.
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  Dr Brian Birnbaum: it is very exciting.
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  And you know, the other component to the genetic testing, which really
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  hasn't, made its way quite down yet to.
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  More the typical genes that cause those cardiomyopathies in kids, would be
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  genetic therapies and gene therapies
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  themselves specifically, looking at, for example, the Duchenne muscular
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  DYS reading population where there's gene therapy that's available.
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  Um, we very well could have gene therapies coming down the line to treat some of
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  these cardiomyopathies in the future.
• 11:43
  Dr Mike Smith (Host): absolutely fascinating.
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  I'm gonna ask you again about kind of what advances you're interested in,
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  but before we do that, I do wanna ask about lifestyle, environmental factors.
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  how do they influence cardiomyopathies in kids?
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  Dr Brian Birnbaum: I think the biggest challenge with lifestyle factors in
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  kids with cardiomyopathy actually has been something that, we as medical
• 12:08
  professionals maybe didn't do a great job of previously, and That
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  is that we're very risk adverse.
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  and some people still are very risk adverse and have promoted sort of
• 12:19
  a sedentary lifestyle because of the risk of sudden cardiac death
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  in many of these cardiomyopathies.
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  And I think we've hopefully swung the pendulum a little bit to where we wanna
• 12:30
  encourage at least moderate physical activity in most cardiomyopathies.
• 12:35
  There are certainly a subgroup of patient's that are at high-risk of sudden
• 12:38
  cardiac arrest with physical exertion, but that's not the majority of patient's.
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  and we've had a lot of patient's, I think unfortunately, that we've restricted from
• 12:47
  physical activity over the years, that now we're seeing those health problems
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  as adults that come with restricted physical activity and, have obesity and
• 12:55
  have coronary artery disease, when they probably didn't need to be restricted.
• 13:00
  Dr Mike Smith (Host): Yeah.
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  It's a tough one, right?
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  there's that blanket statement of, you know, limit your activity in these,
• 13:05
  cardiomyopathies, but at the same time, it just doesn't sound right to tell somebody.
• 13:11
  Not to get some exercise here and there, You know, but I understand
• 13:14
  there's some cases definitely.
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  Right.
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  And you mentioned that, but I'm glad to hear that you're, realizing many cases
• 13:19
  they can have some moderate, exercise.
• 13:22
  'cause that just makes sense to me.
• 13:24
  I.
• 13:24
  Dr Brian Birnbaum: Yeah, and you know, there's so many benefits to exercise
• 13:27
  beyond the cardiovascular system.
• 13:29
  our patient's are much happier when they're able to do more activities.
• 13:32
  Their mental health is much better.
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  their pulmonary health is much better.
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  they tend to eat healthier when they're more physically active.
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  So, it really is something that we need to focus on, promoting reasonable
• 13:44
  physical activity for these patient's, even if they do have a risk of adverse
• 13:48
  events with their cardiomyopathy.
• 13:51
  Dr Mike Smith (Host): Looking ahead And we kind of touched a little bit
• 13:53
  on advances, what other advances in treatment or long-term management
• 13:57
  are you most excited about?
• 14:00
  Dr Brian Birnbaum: we mentioned the gene therapies that are, hopefully
• 14:02
  coming down the line and some of them have, reached patient's with
• 14:05
  certain, you know, very specific.
• 14:07
  Cardiomyopathies are very specific genetic disorders.
• 14:11
  one of the things that we find really exciting in the pediatric world And
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  the adult world is about 25 to 30 years ahead of us on is, devices and
• 14:20
  specifically ventricular assist devices, these are devices that basically help.
• 14:25
  The heart pump blood out.
• 14:26
  sometimes they take over almost entirely for the heart in terms
• 14:29
  of pumping blood out to the body.
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  but the durable devices that are available, which again, are mostly
• 14:35
  for adults, but we've had children as small as, about 25 kilograms at our
• 14:40
  institution with one of these devices able to be outpatient and able to
• 14:44
  go to school and do things at home.
• 14:47
  And so having these technological advances.
• 14:50
  to help support patient's if they're awaiting a heart transplant,
• 14:53
  for example, is really exciting and it has been a game-changer.
• 14:56
  it's great to be able to have some of these devices available where kids can get
• 15:00
  out of the hospital as opposed to being in the hospital for months at a time.
• 15:03
  Dr Mike Smith (Host): Yeah.
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  And you have to assume that the research is probably showing these devices are
• 15:08
  gonna get smaller, better, more efficient, longer lasting, all that kind of stuff.
• 15:13
  Right.
• 15:14
  Dr Brian Birnbaum: I think what's been really great is the devices even, the
• 15:17
  devices that are available as we've gone through the years, we're finding out ways
• 15:23
  to minimize the complications with them.
• 15:25
  And that's been a game-changer as well, that we're able to prevent bleeding,
• 15:30
  prevent strokes, and, still have patient's supported well with these devices.
• 15:35
  Dr Mike Smith (Host): last question for you, when you look at all the advances
• 15:38
  that you've probably seen in your career, from diagnosis to treatment
• 15:42
  to long-term management, what kind of impact has innovation made on outcome?
• 15:48
  Dr Brian Birnbaum: I think it's been amazing what we've been able to
• 15:50
  accomplish the last, several decades in the world of cardiomyopathy and, being
• 15:55
  able to identify patient's that are higher risk through the, testing that
• 15:59
  we have, the genetic testing that we have, being able to screen families,
• 16:03
  even if the genetic testing is negative, be able to screen families with.
• 16:06
  Ultrasound and, echocardiograms and be able to guide families
• 16:11
  in terms of what patient's can do, what their, children can do.
• 16:15
  that sort of day-to-day stuff I think has been phenomenal.
• 16:17
  In addition to those bigger advances such as the devices that we talked about
• 16:22
  and being able to support children, and, young adults for a longer period
• 16:25
  of time while awaiting heart transplant.
• 16:28
  Dr Mike Smith (Host): Yeah.
• 16:29
  Dr.
• 16:30
  Brian Birnbaum, this has been fantastic information.
• 16:34
  Thank you so much for coming on today And the work that you are doing.
• 16:38
  For more information, you can visit c KC link slash CME podcast.
• 16:45
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  library For more topics, This is Pediatrics in Practice, A CME podcast.
• 16:54
  I'm Dr.
• 16:54
  Mike.
• 16:55
  Thanks for listening.