Nicolette: 0:01

Welcome to the Health Pulse, your go-to source for quick, actionable insights on health, wellness and diagnostics. Whether you're looking to optimize your well-being or stay informed about the latest in medical testing, we've got you covered. Join us as we break down key health topics in just minutes. Let's dive in.

Mark: 0:24

Ever go to the doctor for something that seems pretty minor and it turns out to be like way more than you expected.

Rachel: 0:30

Oh yeah, All the time.

Mark: 0:34

Yeah Well, today we're diving into a case just like that. It's a 42-year-old guy who came in with some new heart symptoms. But the real story it's like this decades-long medical puzzle.

Rachel: 0:42

Wow. So he was already dealing with congestive heart failure, high blood pressure and chronic kidney disease.

Mark: 0:49

He was.

Rachel: 0:50

Okay, so these new symptoms? They must have been a real curveball.

Mark: 0:53

They were. But what made this case really fascinating and this is where it gets interesting is how his past surgeries he had way back when he was a kid, for a, a bowel obstruction and then a heart problem, and then you throw in some really unusual physical traits. Well, it all started to kind of connect in this surprising way.

Rachel: 1:12

Okay, I'm intrigued. What kind of physical traits are we talking about here?

Mark: 1:15

So think heterochromia, you know, where someone has different colored eyes.

Rachel: 1:18

Right.

Mark: 1:18

And then hearing loss, but only in one ear. On their own, you know, maybe not a huge red flag, but put it all together and that's what this deep dive is all about.

Rachel: 1:27

These seemingly totally random pieces they pointed to this rare genetic condition, a hidden story basically unfolding for years.

Mark: 1:37

Decades. It's like one of those moments in medicine where something small all of a sudden becomes super significant.

Rachel: 1:43

I see Well, let's start with what brought him in then.

Mark: 1:46

Okay. So he was having shortness of breath even when he was resting, plus some weird discomfort right in the center of his chest.

Rachel: 1:53

Okay.

Mark: 1:54

And then, to top it off, palpitations too.

Rachel: 1:57

All right. So those are definitely things you want to check out, but maybe not classic heart attack symptoms, right?

Mark: 2:02

Not your typical presentation and the physical exam? Well, that just added more layers to the mystery.

Rachel: 2:08

Oh really, how so.

Mark: 2:09

So his blood pressure was high, which wasn't unexpected given his history Right and his heart rate was way up there 124 beats per minute.

Nicolette: 2:16

Okay.

Rachel: 2:22

Then there was this S3 heart sound, you know, which can be a sign.

Mark: 2:24

The heart's having to work harder to pump. Yeah, I know that sound. His lungs sounded clear at least that's good. But then surgical scars on his applet, a separation of his abdominal muscles called diastasis recti.

Rachel: 2:32

Okay.

Mark: 2:32

And then those really striking features His eyes, different colors, remember.

Rachel: 2:38

Right right.

Mark: 2:39

And the hearing loss just in his left ear. It was one of those things you just couldn't miss.

Rachel: 2:44

So it's all these little things that start to add up, huh.

Mark: 2:53

Exactly. And then we got the EKG results back and it showed a fast but regular heartbeat with some extra beats coming from the lower chambers, plus some signs that his left ventricle was strained. It's amazing how a routine checkup can turn into this whole diagnostic challenge.

Rachel: 3:03

I can imagine.

Mark: 3:05

But it wasn't just the physical stuff that caught my attention. There was this sense of anxiety from him, almost this stillness, that made me think there was something more going on. You know what?

Rachel: 3:15

I mean Absolutely. Sometimes it's that intuition, that feeling you get, that can be so important.

Mark: 3:19

Totally, and while we were busy ruling out anything life-threatening with his heart, there was this feeling that these symptoms, they were just part of a much bigger story.

Rachel: 3:29

And then I'm guessing this is where the medication history comes in.

Mark: 3:32

You got it. So it turned out he wasn't taking his meds for his heart failure and high blood pressure regularly.

Rachel: 3:38

He just forgot, or?

Mark: 3:40

Not just forgetting. He seemed to think he only needed to take them when he wasn't feeling well.

Rachel: 3:44

Oh wow, so not really understanding that they're meant to prevent problems down the line, not just treat symptoms in the moment.

Mark: 3:53

Right Like a Band-Aid approach instead of addressing the root cause.

Rachel: 3:56

Yeah, that's not good.

Mark: 3:57

And his pharmacy records back this up showed no refills for over six months.

Rachel: 4:03

It's a good reminder that just because you feel OK doesn't mean everything's fine underneath Right.

Mark: 4:08

Absolutely A lot of these chronic conditions. They can progress silently.

Rachel: 4:11

Right, and then boom, you're dealing with something much more serious.

Mark: 4:14

Exactly so. We've got the new cardiac symptoms, his existing heart and kidney issues, those childhood surgeries and then the heterochromia, the hearing loss. It starts to look like we might be dealing with a syndrome right.

Rachel: 4:27

Yeah, it's definitely starting to paint that picture.

Mark: 4:30

So for our listeners can you explain what we mean when we talk about a syndrome in medicine?

Rachel: 4:35

Sure, so in medicine, a syndrome is basically a collection of signs and symptoms that consistently show up together.

Mark: 4:41

Like a package deal.

Rachel: 4:43

Right, and they usually point to a common underlying cause. So in this case, the pattern we were seeing, it pointed towards something called Wardenburg syndrome.

Mark: 4:52

Wardenburg syndrome. Okay, can you break that down for us a little bit?

Rachel: 4:55

It's a group of rare genetic conditions. They mainly affect hearing and pigmentation, you know, like the color of your skin, hair, eyes.

Mark: 5:03

So that would explain the heterochromia.

Rachel: 5:05

Right, Exactly the different colored eyes. That's a pretty classic sign, and there are different types of Wardenburg syndrome. For this particular case, we zeroed in on type V, which is also called Shaw-Wardenburg syndrome. Okay, so why was type IV or Shawsprung's disease? It's a condition where a part of the large intestine it's missing those nerve cells that help things move along. So you often need surgery pretty early on in infancy.

Mark: 5:44

Ah, so that explains his bowel surgery as a baby.

Rachel: 5:46

Exactly, it starts to all connect.

Mark: 5:48

Wow, okay, so we have all these seemingly different issues and now they're all tied to this Shaw-Wardenberg syndrome. So what's the common thread, the underlying connection?

Rachel: 5:59

It all boils down to problems with what we call neural crest cells. Neural crest cells yeah, these cells. They're like the body's construction crew during embryonic development. They help build all sorts of important stuff.

Mark: 6:10

OK.

Rachel: 6:11

But if their blueprint is messed up, you can end up with problems in seemingly unrelated areas like the inner ear, which affects hearing.

Mark: 6:19

Right.

Rachel: 6:19

And those pigment producing cells which give us our skin, hair and eye color. And then there's the enteric nervous system that controls the gut.

Mark: 6:26

And that ties back to the Hirschman's disease.

Rachel: 6:28

Exactly, and here's the kicker.

Mark: 6:35

Neural crest cells. They also contribute to certain parts of the heart. Oh wow, so a problem with these cells during pregnancy?

Rachel: 6:38

it can have effects all over the body Exactly A real domino effect. And to add to that, Shaw-Wardenburg syndrome usually follows an autosomal recessive inheritance pattern, meaning someone needs to inherit two copies of the messed up gene to develop the condition, one from each parent. Oh, okay. And remember how his brother also had heterochromia.

Mark: 6:58

Right, but in the other eye.

Rachel: 6:59

Yeah, that was a huge clue for us. It really pointed toward a genetic condition running in the family.

Mark: 7:05

So it wasn't just a coincidence.

Rachel: 7:07

No, not at all.

Mark: 7:08

So now let's bring it back to the heart issue. We know he had surgery for a heart problem as a child. How does that tie into all of this?

Rachel: 7:16

So heart problems aren't a main feature of Schau-Wardenberg syndrome, but they have been reported in some cases. And when you remember that neural crest cells are involved in building those outflow tracks of the heart, the ones that carry blood away Right Well, it makes you think there could be some congenital heart anomaly involved, especially in cases like this where the syndrome is showing up in different ways.

Mark: 7:37

So that childhood heart surgery it becomes another piece of this complex puzzle.

Rachel: 7:41

Right. We may not have all the details, but it definitely fits the bigger picture.

Mark: 7:46

So looking back at his whole history through the lens of Schall-Wardenberg syndrome, it starts to make a lot more sense, right? It does the bowel surgery as a baby, probably Hirschbrunns.

Rachel: 7:56

Most likely yeah.

Mark: 7:57

Then the heart surgery as a kid, possibly linked to this neural crest cell issue.

Rachel: 8:03

Could be.

Mark: 8:04

The lifelong hearing loss, the different colored eyes and now these problems with his heart and kidneys in adulthood.

Rachel: 8:12

It's all connected.

Mark: 8:13

What's wild is that he's probably lived with this his whole life without ever knowing what it was.

Rachel: 8:18

Yeah, it really highlights how important it is to look for these connections, these patterns.

Mark: 8:23

Absolutely. Now let's dive a bit deeper into his surgical history. That bowel surgery when he was an infant that's pretty classic for Hirschsprungs, isn't it?

Rachel: 8:31

It is the timing, the need for surgery so soon after birth for a bowel obstruction that really points to Hirschsprungs and remember that's a key part of Shaw-Wardenburg syndrome.

Mark: 8:42

Right. And then we have the heart surgery from his childhood. We don't have all the details about that one, unfortunately.

Rachel: 8:47

Yeah, it's a bit of a blind spot. We don't know exactly what the issue was or how it was fixed.

Mark: 8:53

But knowing what we know now about neural crest cells and heart development, it's hard to ignore the possibility of a connection there.

Rachel: 9:01

Definitely. Even without all the pieces, it's still a significant part of the story.

Mark: 9:05

And it's like the syndrome has been revealing itself gradually over the years First the hearing loss, then the different colored eyes and now, as an adult, all these problems with his heart and kidneys.

Rachel: 9:18

Yeah, it's almost like it's unfolding in stages.

Mark: 9:21

And remember how we talked about his brother having heterochromia in the other eye. That really solidifies the idea of a genetic link, doesn't it?

Rachel: 9:28

It's huge. It basically confirms that something's being passed down in the family.

Mark: 9:32

So it's not just a bunch of random things happening.

Rachel: 9:33

Nope, it's all connected. You also mentioned something earlier about variable expressivity in genetic syndromes. Can you explain what that means, maybe give an example?

Mark: 9:43

Sure, so variable expressivity. It basically means that even if people have the same genetic mutation, they might experience it in different ways. Like two people with Shaw-Wardenberg syndrome one might have severe hearing loss, while the other only has mild hearing loss.

Rachel: 9:59

Even though they have the same genetic problem.

Mark: 10:01

Exactly, and their other symptoms might be different too. Like with the brothers, one had heterochromia in one eye, the other in the opposite eye.

Rachel: 10:08

Different expressions of the same underlying issue.

Mark: 10:10

Exactly so, shifting gears a bit. Let's talk about his heart. Those EKG findings, the fast heart rate, those extra beats, the strain on his left ventricle and that S3 heart sound All pretty concerning stuff.

Rachel: 10:24

Definitely red flags.

Mark: 10:26

Now we know his high blood pressure and not taking his meds regularly played a big part in this. But could it be more than that? Could Shaw-Wardenburg syndrome itself be contributing to his heart problems?

Rachel: 10:37

It's a good question and a tough one to answer definitively Right. I mean the uncontrolled high blood pressure and the inconsistent medication use. Those definitely did a number on his heart.

Mark: 10:46

Right Years of damage.

Rachel: 10:48

But we can't ignore those cases where people with Shaw-Wardenburg have had heart problems. And then there's that whole connection with the neural crest cells and how they're involved in heart development.

Mark: 10:58

There's probably a combination of things.

Rachel: 11:00

Most likely A perfect storm of factors.

Mark: 11:03

And then, on top of all that, he's dealing with chronic kidney disease, which we know can be a whole other can of worms.

Rachel: 11:08

Absolutely. And his kidney problems. They probably started because of the high blood pressure that wasn't being managed well.

Mark: 11:15

Right Makes sense.

Rachel: 11:16

But there's also this thing called cardiorenal syndrome, where problems with the heart can actually make the kidney problems worse and vice versa. It's like a vicious cycle.

Mark: 11:26

Oh, wow. So it's not just that they're both happening at the same time, they're feeding off each other.

Rachel: 11:31

Exactly.

Mark: 11:32

And the fact that he wasn't taking his meds regularly. That probably accelerated the whole process.

Rachel: 11:36

Definitely. It's a reminder that those medications, they're not just there to make you feel better in the moment. They're meant to protect your organs from long-term damage.

Mark: 11:47

It's like he was trying to control things by only taking his meds when he felt bad, but it ended up backfiring.

Rachel: 11:53

Right. Sometimes trying to take shortcuts can lead to bigger problems down the road. This whole case it's a lesson in the importance of seeing the big picture.

Mark: 12:01

Totally. It's about listening to the patient's story, paying attention to the details and putting it all together. It shows that even a routine checkup can lead to some pretty profound discoveries.

Rachel: 12:13

Absolutely. It reminds us that in medicine, no detail is too small, especially when you're trying to figure out if there's an underlying syndrome at play.

Mark: 12:21

It's like detective work, right, it really is. Like those different colored eyes, the hearing loss, those weren't just random things, they were clues, and when you combine them with his surgical history and what we learned about his family, it all pointed to this specific genetic condition.

Rachel: 12:35

It's also a good reminder that we need to think beyond just treating the symptoms.

Mark: 12:40

We. It's also a good reminder that we need to think beyond just treating the symptoms.

Rachel: 12:43

We need to understand the whole patient, their history, their genetics, everything Right. And sometimes it takes a bit of digging, a willingness to look beyond the obvious to find the real story.

Mark: 12:51

So let's recap. We started with this guy coming in for some heart symptoms and through careful observation, a thorough history and some good old-fashioned detective work, we uncovered this decades-long medical mystery. It's pretty incredible when you think about it.

Rachel: 13:06

It is and it shows that Shaw-Wardenburg syndrome, even though it's rare, it's recognizable. If you know what to look for. Those little clues, the heterochromia, the hearing loss, the history of bowel problems early in life, those can be really telling.

Mark: 13:21

So for our listeners out there, this case is a great example of why it's so important to talk to your doctor about your full medical history.

Rachel: 13:29

Absolutely, even those things that seem totally unrelated or insignificant.

Mark: 13:33

Like having different colored eyes or having hearing problems as a kid or needing surgery when you were little. Those could be pieces of a bigger puzzle.

Rachel: 13:41

You never know what might be connected.

Mark: 13:42

So the next time you see your doctor, don't hold back. Share everything, every detail, no matter how small it seems. It can make all the difference.

Nicolette: 13:54

Thanks for tuning into the Health Pulse. If you found this episode helpful, don't forget to subscribe and share it with someone who might benefit. For more health insights and diagnostics, visit us online at wwwquicklabmobilecom. Stay informed, stay healthy and we'll catch you in the next episode.