Friday, May 13, 2011

What's the Diagnosis May 13, 2011

What is the most common genetic mutation associated with this condition? (just trying to be a pain in the rear-end, like the FP boards, this is the type of question they'll ask, not what's the diagnosis of the slide)


  1. Not a single guess on this?? Ok, let's start it simple.

    1) What organ is this?
    2) Is it normal or not-normal?

  2. hello, im interested in pathology. it seem ur question was far advance and out of my league. is that any entry from the previous one that teach the basic one. so for this question let me guess

    1) striated cell, no interecalated disk, so my guess is smooth muscle organ probably uterus

    2) there was some discontinuity of cell with some infiltration of cell so i guess it not normal thing.


  3. Appeared like myocardium with increase extracellular guess though...

  4. Alright, we have some brave souls. I wonder where Vosbeck is....

    Anyway, nice thoughts all the way around.

    Conan, you're thinking right. It's muscle, and it's not your run of the mill skeletal muscle. But it's not smooth muscle either. It's the third type of muscle: myocardium. Myocardium is a special type in involuntary striated muscle. The smooth muscle of the uterus would be much more spindle-shapped than this. So, Tulan, you've got it.

    Now, you are correct it's not normal. There is 'stuff' in between the muscle fibers. And look at the fibers themselves, do they look normal??

    When backed into a diagnostic corner, take a breath and think about the process in front of you. There are only a few disease patterns in the human body. Think of a possible diagnosis for each one, and there is your differential. Every organ in the body is affected by:

    1. Infection
    2. Inflammation
    3. Autoimmune
    4. Neoplasia (benign and malignant)
    5. Trauma
    6. Congenital malformations/inherited diseases

    Now, what do you think?

  5. Let me try again...there's myocyte disarrays and collagenous fibers in between. Some nucleus is rather biggish. Huh...where do I shoot??? Hypertrophic cardiomayopathy associated with Tcap gene mutation.....(hit anything???)

  6. Sweet. It is indeed HCM. There is myofiber disaray and fibrosis, which are the tip off. Interestingly, (and I had a case of this recently) sometimes the heart weights can be normal. There are over 14 genes and 150 mutations associated with HCM. The most common involve beta myosin heavy chains. By chance I came across an article in the Am J Forensic Med Path that was worthwhile (yes, I did look at this journal, it was in my bag and I had nothing to read on the train, so I thumbed through it) reviewing some aspects of sudden cardiac death, it is worth taking a look at! 2011;32(1):1-14.

    New case tomorrow. Sorry to be slow this month, it's been crazy.