Category Archives: Sleuth It

Sleuth-It Diagnosis: Bicuspid aortic valve

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Safe bicuspid

What counts in the heart? The number of parts to each valve counts. In this case, the number of parts (leaflets) of the aortic valve was important.

You stopped counting after seeing two aortic valve leaflets. Normally there are three.

Two aortic valves rather than three is an inherited condition called “bicuspid aortic valve.” It affects 1-2% of the population.

Bicuspid aortic valve can be associated with aortic aneurysm and rupture, typically in late middle age among males with the condition.

The inheritance is not well-understood but does not have to affect every family member.

Once this diagnosis is suspected, family members can get tested. If any family member has the condition, they can be monitored for disease progression and treated (with blood pressure medicine, surgery if needed, and so on).

Knowing the diagnosis can save the lives of the affected family members.

The autopsy helped with the family’s closure; but also did much more than that by alerting the family to an inherited genetic condition.

Here’s more information about bicuspid aortic valve.

Sleuth It — What Counts in the Heart?

Aortic aneurysm imageYou perform an autopsy on an elderly man who died suddenly at home. The gentleman was stoic, somewhat distant from his family and never sought medical care. There are four adult children who call you to perform an autopsy. They would like to know what happened.

During the autopsy, you find that the sac around the heart is full of blood. Your first thought is to consider either a heart attack with rupture of the heart muscle; or an aortic aneurysm with rupture of the aorta.

The coronary arteries are whistle clean (no significant blockage by plaque) and the heart muscle is healthy. There was no heart attack. But the aorta coming out of the heart is twice as wide as normal and there’s a half-inch tear in it close to the heart. It’s the aorta that has ruptured.

You consider high blood pressure as a common cause of aortic aneurysm. But if there were many years of high blood pressure, the heart should be bigger than normal and the kidneys should have a rough surface. The heart is normal size and the kidneys are smooth. It doesn’t look like there was high blood pressure.

You wonder about the inherited condition, Marfan syndrome, which goes along with a stretched out aorta and aortic rupture. But patients with Marfan syndrome tend to be tall and this gentleman is short. Marfan syndrome is unlikely.

You continue a systematic assessment of the heart, continuing with the heart valves. First you assess the valves on the right side of the heart: Tricuspid valve. “One, two, three leaflets. All thin and pliable. No problem there,” you think. Now the pulmonic valve. “One, two, three leaflets. All thin and pliable. No problem there.” You move on to the left side of the heart, looking at the mitral valve. “One, two leaflets, no problems.” Then you look the aortic valve, “One, two….”

Suddenly you realize you better call the family in. The autopsy results may save their lives.

What did you see?

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Sleuth It – The Case Without Findings

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A 44 year old man dies suddenly after a night of “partying.” The coroner has made her evaluation but declined to perform an autopsy. The two sons request an independent autopsy, which you perform. The body is thin, but well nourished. There is no evidence of trauma and the autopsy exam is entirely normal. You save some blood for toxicology, even though the family has not requested testing.

Afterwards, you meet with the sons. They explain that their father was drinking beer and doing “shots” of hard liquor, but wasn’t really “that drunk.” You talk though the pluses and minuses of testing the blood for alcohol: the sons already know their father was drinking, so the test wouldn’t add that; but the test might give a clearer sense of how much alcohol was “in the system.” The sons don’t want any toxicology testing, saying they know “how hard” their father partied.

Suddenly, they turn to one another, whisper, and then turn back. “Oh, yeah, our father also ….”

Which of these disclosures would help in this case?

Their father:

a. Had high blood pressure
b. Was depressed and took the antidepressant Zoloft
c. Did cocaine
d. Had a serious family history of high cholesterol
e. Just started taking Coumadin (blood thinner) for a problem with his heart rhythm.

Stay tuned next month for a discussion of the case.


January 9, 2016 Update:
Case Discussion.

It would help to know that the father used cocaine (choice c.). Cocaine can cause spasm (clamping down) of normal coronary arteries, block blood flow in the artery and cause a heart attack that way. It could certainly have caused the death.

It may also help to know if the father had an abnormal rhythm (choice e.). That might be explored more to see in what way the abnormal rhythm might have been a risk factor for sudden death.

Coumadin is a risk factor for bleeding into the head — but you performed the case and there was no bleeding. So the part of option e. that is helpful is the mention of an abnormal heart rhythm, not the use of Coumadin.

High blood pressure is a risk factor for a large heart and an abnormal rhythm — but you performed the case and the heart was normal.

Family history for high cholesterol is a risk factor for high cholesterol and blockages — but you performed the case and there were no blockages.

Zoloft is not commonly a drug that causes overdose.

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Sleuth It: Case of Tendon Repair (Part 1)

Tendon writst

A family calls to request an autopsy. They complain that a recent surgery “killed their mother.” The patient had a history of heart disease, high blood pressure and diabetes and lived alone. The surgery was a tendon repair of the wrist and took place three days before the patient died. The surgery reportedly went fine and recovery was going well — just with some pain at the surgical site, but no swelling or infection. The family visited regularly. On the third day in the evening, the family was with their mother when she passed out.

What questions do you have for the family now?
At this point, what do you think could have made the mother pass out?

Submit your comments here and stay tuned for Part 2.