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Mid-40's female nurse seen yesterday for a Boy Scout physical.  During course of hx. review she gives me an interesting story.

Hx. of heart murmur as small child that was noted to "go away" as she got older.

Later in life (adulthood) she develops DOE with associated cyanosis.

Pulse ox values consistently read in the low 90's at rest.

ETT unremarkable.

Has heart cath and reported to be normal.  Normal LV function and EF.  No hypertrophic changes or dilation.

PCWP normal to exclude suspected pulmonary HTN.

Only one test remains which coincidentally gives the diagnosis.  What's the test and the diagnosis?

 

Hint:  No contraindication to participation in any activity and situation now resolved.

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Mid-40's female nurse seen yesterday for a Boy Scout physical.  During course of hx. review she gives me an interesting story.

Hx. of heart murmur as small child that was noted to "go away" as she got older.

Later in life (adulthood) she develops DOE with associated cyanosis.

Pulse ox values consistently read in the low 90's at rest.

ETT unremarkable.

Has heart cath and reported to be normal.  Normal LV function and EF.  No hypertrophic changes or dilation.

PCWP normal to exclude suspected pulmonary HTN.

Only one test remains which coincidentally gives the diagnosis.  What's the test and the diagnosis?

 

Hint:  No contraindication to participation in any activity and situation now resolved.

Are you saying the test was done and problem was resolved since you saw her yesterday? Or is this historical information?

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Nope.  Condition "resolved" since early 00's.  I just happened to hear the long story dating from early adulthood through early 00's yesterday during her visit.  This was the first time that I had seen her and it was part of her medical hx. that I reviewed before clearing her to participate in Boy Scout supervision activities.  Once dx. is revealed I suspect that most would apply the brake pedal and say "wait, that isn't consistent with the PE", but it is if one thinks about the physiologic process.  We have our brains configured to think that with this diagnosis we should be expecting a different PE finding.

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Where's the cyanosis?  lips? extremities?

 

 

i think an emergent open heart surgery with a heart transplant, in the office of course, is the next step

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Thinking back to peds cardiology, a patent ductus arteriosus is in the differential.  Thoracic CT might see this better than the other modalities you've mentioned, however I would expect it to have been evident on the transthoracic echo. 

 

I'll be interested to hear the answer.

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TEE r/o VR or VS,

 

assumed EKG normal and rest of PE and CXR normal , no current murmur?

 

if cardiac ruled out then the zebras, like some weird thyroid or heme or even coagulopathy crap

 

it's never lupus except when it is

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I know you are looking for zebras, but some non-zebras could be an outflow obstruction such as Coarctation of the aorta, but that is not a zebra. Aortic valve stenosis is another. I didn't see an echo in your work up. But again, I wouldn't consider those as zebras.

 

 
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I'm thinking peripheral pulmonary artery stenosis as a kid that is rearing it's head again. But, tests aren't quite equaling it. Pulmonary angio?

 

I am siding with jmj11 for the echo.

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You have excluded pulmonary HTN with a normal PCWP.

I couldn't provide this statement last night due to the app being down.  Remember the most important medical proverb taught (arguably), "Look for common problems with an uncommon presentation before one looks for an uncommon problem with a common presentation".

 

The question one needs to ask is what organ is most commonly associated with a resting hypoxic/activity induced cyanosis?

 

jmj11/south are on the correct track.  Sometimes the most useful test is the most basic (and least profitable).

 

For myself, the most important proverb is "keep it simple, stupid".

 

BTW, "horns down" for our normally highly thought of folks at UT-Southwestern.  They almost missed this one (per the pt.).

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WELL DONE!  Leave it to a dog lover to get the diagnosis.  Here's a dog treat for you.  Now, answer the question of "Where's the murmur?" since this is significant enough to result in objective cyanosis.

 

BTW, especially for students, why didn't the heart cath show the ASD?  Hint:  you have to understand the actual procedure of a heart cath being performed for vascular/functional assessment.

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Thanks for that. I like to shake the dust off my old medical stuff now and then to think about things. While I didn't get it, I enjoyed the challenge.Even in headache work, certainly had to order a lot of Echos and bubble test in the early 2000s when ASD were claimed to be associated with migraine. It was a passing fad.

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My brain is not awake this morning.  Obviously you wouldn't see it on a heart cath.... that is looking at coronary perfusion and EF......  you aren't looking at the atriums at all. 

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I agree.  The contrast is injected within the ventricle and the os of the coronary arteries so with an intact MV there would be no contrast to reflect the flow defect, thus the heart cath wouldn't show it.

 

Folks, where's the murmur associated with such a flow defect to allow for cyanosis?  Hint:  you have to understand the mechanism of what produces a murmur

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It is going to be a right sided murmur due to increase blood volume.  You would have increased flow across both the tricuspid and pulmonic.....  I'm going to go with a pulmonic murmur. 

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I kept reading it as "where is the murmur?".... but clearly you said in your first post that the murmur disappeared as she grew older.... like I said...brain is not awake today (my poor patients).   Large enough ASD to cause equal mixing so that there is no increased blood flow on either the left or right side of heart would eliminate any potential murmurs.....

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BINGO, again!  You win a case of Frosty Paws frozen treats for the dogs!  The cardiologists almost missed it because they didn't take into consideration that the ASD had progressively deteriorated over time causing the  wall to break away.  No obstruction or reduction in flow compared to a normally narrowed space with a typical ASD (think of pursing lips to whistle versus straight talking without a whistling noise) will create a murmur.  She was L->R shunting without restriction and circulating only partially oxygenated blood, thus the activity induced cyanosis and reduction of her resting pulse ox..  Following her patch, problem solved and no murmur still.  The cardiologist confessed that since the echo was the lone remaining test to run that they didn't expect to find a root cause.  Now the question becomes does she need prophylaxis for dental cleaning/surgeries?  Answer is dependent on proximity of patch to valve leaflets (per AHA guidelines).

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