A 70 y/o man presents with new exertional dyspnea, orthopnea/PND, wide pulse pressure (~100 mm Hg), and elevated JVP. A physical finding is identified (video). Echo: preserved systolic function, no valvular disease. Thoughts? What would you do next? #PhysicalExam#cardiotwitter
Incredible discussion. Like many here I questioned the echo. Then realized Quincke's pulse = high-output state (not always AR). Sent for RHC to confirm high-output HF. Sure enough, CO was 12.5 L/min (CI 4.8 L/min/m2). Workup for cause underway. #PhysicalExam led to diagnosis.
Physical exam was pivotal in this case. Without it, most of us would have concluded that this was "just another case of diastolic heart failure" and stopped there. Without seeing Quincke's pulse, there is no question that I would have unknowingly marched down the wrong path.
At this point thiamine deficiency (beriberi) and AV shunt are highest on my differential. Patient drinks ~2 glasses of wine/day. EtOH causes thiamine deficiency via several mechanisms, so even if patients consume a normal diet and don't appear malnourished, it is still possible.
Thanks @DocRock54 for asking for follow-up. The thiamine assay won't result until 12/22. If negative, then next step will be to look for shunt. I have corresponded with the authors of the excellent review below, who offered some advice about shunt workup (see image). More soon.
UPDATE. This patient has wet beriberi. Thiamine replacement should result in total cure. Heinrich Quincke is still helping patients nearly 100 years after his death. Is that not immortality?
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1/9 A 70-year-old man presents with dyspnea. What do you notice when you first meet him?
This finding should generate a hypothesis, which we will circle back to eventually.
2/9 Before we do, let’s talk about dyspnea. The two main systems responsible for dyspnea are the heart and the lungs.
3/9 The jugular venous pulse can serve as a pivot point. It can take you toward or away from the heart. With this in mind, let’s evaluate the patient’s neck. Here, he is in the upright position. (Sometimes the jugular venous pulse is better seen on the left.)
1/8 A young man comes to our clinic for evaluation of rapid weight gain. He has heard "diet and exercise" several times before he sees us.
The driver license photo was taken ~9 months prior.
We make some observations, leading us to generate a hypothesis.
2/8
Based on our hypothesis, we examine the patient further. And we make several more important observations, increasing the likelihood of our hypothesis.
3/8
We remember that skin thickness can be an important sign in this condition, from Lynn Loriaux's 2017
@NEJM review.
(Examiner's hand is shown above, patient's below.)
1/8
A young man presents with dyspnea. We start with his hands.
My hand is gloved in the second photo (for frame of reference, I can palm a basketball).
Our patient has a finding that should generate a hypothesis.
2/8
Our hypothesis takes us to the patient’s mouth.
3/8
A high-arched palate. Otherwise note as an “ogival” arch. These arches are pointed at the top and are a key feature of Gothic architecture, beginning in the 12th century.
1/11
A 35 y/o woman presents with numbness and paresthesias in her feet and legs, imbalance, and frequent falls, progressing over a period of months.
Your astute med student notices high arched feet and bent toes. What do these findings suggest?
2/11
The history along with the presence of pes cavus (high arch) and hammertoes (toes bent at middle joint) suggest peripheral neuropathy (eg, polyneuropathy). Let’s perform a hypothesis-driven exam. What would we expect the reflexes to be like in a patient with polyneuropathy?
3/11
Our pt has brisk upper extremity reflexes and absent lower extremity reflexes. Polyneuropathy is usually length-dependent, beginning in the legs before affecting the arms.
Next, we’ll test sensation, starting with pain and temperature (small fiber, anterolateral cord).
1/11
A young woman presents with bleeding from her nose and gums and the following skin rash.
2/11
Petechiae are pinpoint hemorrhages <2 mm in size, purpura are 2 mm to 1 cm, and ecchymoses are >1 cm. Our patient has all three. These lesions are the result of extravasation of blood from the vasculature into skin/mucosa and do not blanch, as shown in this video:
3/11
A platelet disorder could explain these symptoms and physical findings.
But is the platelet issue qualitative (platelets are normal in number but abnormal in function) or quantitative (platelets are normal in function, but abnormal in number)?