Here you will find cases in which physical examination played a key role in making the diagnosis. Try to work through the cases one step at a time and see if you arrive at the correct diagnosis.

The presence of de Musset’s sign (to-and-fro head bob) is consistent with your hypothesis. So you look for more evidence.

And you find it in the form of Corrigan’s pulse. You continue to evaluate the peripheral pulses and find more evidence to support your hypothesis. 

This should make it easier to appreciate. 

Next you look at the patient’s fingernails. What do you see? 

The patient is having trouble seeing what you see in his nail bed. So you use a light source to help him. 

You continue to evaluate the peripheral pulses, finally reaching his foot: 

Before you even listen to the patient’s heart, your diagnosis has all but been made. And when you listen, you know exactly what to listen for. “The ears can’t hear what the mind doesn’t know” 

You have just diagnosed severe aortic insufficiency with your eyes, your ears, and a Q-tip. 

This should generate a hypothesis. 

With your hypothesis in mind, you listen to the patient’s heart. You anticipate what you might hear. “The ears can’t hear what the mind doesn’t know.” 

An additional diagnosis has now been made.

Based on the holosystolic murmur at the apex that you anticipated you would hear, you diagnose the patient with mitral valve endocarditis. Two days later, his heart sounds change. Take a listen. 

Two days later, you no longer hear the pericardial friction rub. In fact, his heart sounds are difficult to hear at all. He develops hypotension and pre-syncope and his neck looks like this: 

This should generate a hypothesis. 

 You confirm your hypothesis with a bedside maneuver (video features a different patient with the same diagnosis): 

You have diagnosed infective endocarditis of the mitral valve with pericardial involvement, evolving to pericardial effusion with cardiac tamponade. All with your eyes and ears. 

A middle-aged man walks into your clinic complaining of weakness. You take a moment to observe his gait. What do you notice?

This should generate a hypothesis. 

You reference your framework for weakness and try to determine the location of the lesion to narrow your differential diagnosis. The patient’s gait has already provided a clue (spasticity). 

So you check his reflexes next. 

The hyperreflexia suggests an upper motor neuron lesion. Next, you check for Hoffmann’s sign, which if present, would suggest a cervical lesion.

You have just diagnosed cervical myelopathy. Using only your eyes and a reflex hammer. 

A middle-aged woman presents with progressive dyspnea. You start with her hands. What do you notice? Does it generate any hypotheses in your mind? 

Could these small erythematous lesions be telangiectasias? Let’s see if they blanch and refill by pressing on one of them.

Indeed, they do, confirming your suspicion. What condition comes to mind? Perhaps you are thinking about hereditary hemorrhagic telangiectasia (HHT). Can it cause dyspnea? Yes, via pulmonary AVMs. What other condition can present with telangiectasias that may involve the lungs? 

Your new hypothesis leads you to examine the hands further, discovering that the patient has a hard time completely straightening her fingers. You ask her to make the universal sign of prayer.

You search her skin for other signs of the condition that is now at the forefront of your mind. What is this hard, white nodule on her elbow? Does it further advance your hypothesis? 

So what about the dyspnea? How does the condition you have in mind affect the lungs? You look for evidence of pulmonary hypertension on exam. You start with the jugular venous pulse. What finding is present? 

Then you auscult the heart. What finding is present? What is your ultimate diagnosis?

This patient has scleroderma with systemic involvement (SSc). Typical cutaneous manifestations include telangiectasias, sclerodactyly (+ Prayer sign), and calcinosis cutis (nodule on her elbow). SSc can cause pulmonary hypertension, leading to Kussmaul’s sign and loud P2. 

A standardized test would provide all of these clues on a silver platter. Any machine can synthesize them and make the diagnosis. The clinician must not only synthesize, but gather these clues at the bedside. Your search must be hypothesis-driven or you might miss them. 

Anticipation is key in medicine. The eyes can’t see what the mind doesn’t know. The ears can’t hear what the mind doesn’t know. 

So you hear an extra heart sound. Now what? First: Is the extra sound near S1 or S2? Each scenario is associated with a different differential. Listen to this clip. Is the extra sound here near S1 or S2? 

Not sure you hear three sounds? To orient you, listen to normal S1 and S2. There are two sounds here.

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This is a persistently split S2. (S1 is also split.)

What about the the opening snap? It occurs further from S2 than the split S2, but closer to S2 than the S3 gallop and pericardial knock. It is best heard with the diaphragm and closer to the apex. Take a listen in this patient with severe mitral stenosis: 

What about the the pericardial knock? It occurs outside the range for a split S2 and the OS of mitral stenosis, but not as far from S2 as an S3. It is best heard with the diaphragm over the LLSB/apex. Take a listen in this patient with constrictive pericarditis: 

So back to our patient. What is the extra sound? Orienting yourself to the cardiac cycle is critical. Is the sound near S1 or near S2? How far from S2 is the sound? Is it high- or low-pitched? Is it best heard over the base or apex? 

Our patient has an S3 gallop. 

Never forget importance of history and associated findings. The exam is not practiced in a vacuum. Is pt from a country where rheumatic heart disease is prevalent? Does the patient have sharp and deep X/Y descents indicative of constriction? Other signs of heart failure?

You hear an extra transient heart sound near S1. Now what? 

Not sure you hear three sounds? Here is normal S1 and S2 to serve as a control.  

There are two sounds. Listen to this clip and then re-listen to the above clip. When you do, you will hear three sounds. Two near where S1 should be, followed by S2. 

So what’s the differential for extra transient sounds near S1?  

DDx:  

Split S1  

S4 gallop  

Ejection click 

Split S1 and S4 gallop can be challenging to distinguish because both are best heard over the APEX area. However, the split S1 sounds are closer together than the S1-S4 interval. And the S4 is best heard with the BELL of the scope. Listen to this split S1: 

Now take a listen to this S4 gallop: 

Notice that the S1-S4 interval is longer compared to the split S1 above. And while we are listening over the same area of the chest (apex), the bell is being used rather than the diaphragm. 

What about the ejection click? It is perhaps the easiest to distinguish because it is often heard over the BASE of the heart – very atypical for the split S1 and S4. The click is best appreciated with the diaphragm of the scope as it is higher pitched. 

So back to our patient. What is the extra sound? 

It is heard over the base of the heart with the diaphragm. This is an ejection click. (It was picked up on routine exam and led to the diagnosis of a severely dilated aortic root.)  

Remember that the exam is never performed in a vacuum. You will also have the benefit of the history and other findings. Does the patient have longstanding HTN (S4)? Does the patient have a giant a wave with an RV heave suggestive of pulmonary hypertension (click)? 

A 50-y/o man presents with exertional dyspnea. The two main systems responsible for dyspnea are the heart and the lungs.

The jugular venous pulse can serve as a pivot point. It can take you toward or away from the heart. With this in mind, you evaluate the patient’s neck. What do you notice? 

Not only is the JVP elevated, but it appears to rise with inspiration. This is known as Kussmaul’s sign.

In the above video, you may have also noticed a mark on the patient’s skin, just below the “a wave” in our logo. Here is the mark up close:

What is it? 

You ask the patient when he had radiation therapy to his chest, and he gives you a surprised look. “How did you know?” 

“I haven’t thought about it in 30 years. I had Hodgkin’s lymphoma when I was 17 years old. They shot radiation at my chest. Why does it matter, doc?” 

Next, you listen to the patient’s heart, anticipating what you might hear. “The ears can’t hear what the mind doesn’t know”.

You hear an extra transient sound near S2. Your differential is split S2, S3 gallop, opening snap, and pericardial knock. The location, pitch, distance from S2, and the associated history and JVP findings make this sound most likely to be a pericardial knock. 

You diagnose this patient with radiation-induced constrictive pericarditis. With your eyes and ears. The effects of radiation therapy can show up decades later, when patients have all but forgotten they even had it. 

A man presents to you with the clinical syndrome of heart failure (weight gain, orthopnea, elevated JVP, etc.). BP is 144/48 mm Hg.

This should generate a hypothesis. Yoo you look for other specific physical findings. What do you notice in this video?

Quincke’s pulse is consistent with your hypothesis, so you look for more evidence in his neck. And you have found it.

You then listen to the patient’s heart in anticipation of hearing a decrescendo diastolic murmur and confirming your suspicions.

But there is no decrescendo diastolic murmur. Further, his echocardiogram is totally normal. There is no aortic valve pathology. There is no systolic dysfunction.

Wide pulse pressure, Quincke’s pulse, and Corrigan’s pulse are not specific for aortic regurgitation. They are physical manifestations of a hyperkinetic state from ANY cause.

The combination of high-output physiology and HF should generate a new hypothesis. You test your hypothesis with right heart catheterization.

You have diagnosed the patient with high-output heart failure. What’s causing it?

Retrospective history reveals the consumption of 3-4 glasses of wine daily. Hypothesis-driven laboratory investigation is pursued.

You have now diagnosed the patient with high-output heart failure secondary to thiamine deficiency (wet beriberi).

Alcohol leads to thiamine deficiency through a variety of mechanisms, including poor diet and decreased absorption of thiamine in the GI tract.

Why is the diagnosis of wet beriberi so critical to make? It is curable. Take a look at BP and PP over time with alcohol cessation and thiamine replacement:

The risk here would have been to diagnose the patient with heart failure with preserved systolic function and then call it a day. “This is a very common diagnosis, take these diuretics and you’ll feel better”.

The observation of the physical findings changed everything.

This patient was cured without need for diuretics or other long-term meds.

The observation of wide pulse pressure and other signs of high-output physiology can provide a pivotal clue to the diagnosis of high-output heart failure, particularly when echo is uninformative.

A young man comes to your clinic for evaluation of rapid weight gain. He has heard “diet and exercise” several times before he sees you.

The driver license photo was taken ~9 months prior.

You make some observations, leading you to generate a hypothesis.

Based on your hypothesis, you examine the patient further. And you make several more important observations, increasing the likelihood of your hypothesis.

You 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.)

You now have a clinical syndrome that is consistent with Cushing’s syndrome.

A confirmatory test is your next step.

Urine free cortisol (confirmatory test): 7,960 mcg/24H (!)

You have now confirmed the diagnosis of Cushing’s syndrome. The next question is, is it ACTH-dependent or ACTH-independent?

A plasma ACTH level is necessary to make this determination.

Plasma ACTH level is 496 pg/mL (normal <50)

Where is that ACTH coming from? The pituitary gland (ectopic) or elsewhere (ectopic)?

To determine this, inferior petrosal sinus sampling is necessary.

IPSS shows a ratio <3, confirming an ectopic source of ACTH.

Chest imaging ultimately reveals the presence of a bronchial carcinoid tumor.

You have diagnosed ACTH-dependent Cushing’s syndrome from an ectopic source using only your eyes and hypothesis-driven laboratory and imaging tests.

You are rotating on the Procedure Service and your team is asked to perform a routine “therapeutic” paracentesis on a patient with cancer. You walk into the room to meet the patient and this is what you see. This finding should generate a hypothesis.

A “diagnostic” paracentesis wasn’t requested, but the underlying cause of ascites in this case has never been questioned. You consult your framework for ascites: The first question you want to know is whether the process is driven by portal hypertension or not.

Serum albumin is 3.1 g/dL and ascitic fluid album is 0.8 g/dL, yielding a serum-ascites albumin gradient (SAAG) of 2.3 (>1.1), which is consistent with a portal hypertensive process.

Next you wonder if the cause of portal HTN is prehepatic, hepatic, or posthepatic. For this you return to the cornerstone of diagnostic medicine, the history and physical examination. You recall the hypothesis generated by the dilated forehead veins and you evaluate the JVP.

The patient is upright in the video. What do you think right atrial pressure is? High? Low? Normal? It is markedly elevated. Pointing you in the direction of posthepatic causes of portal hypertension.

A young woman presents with progressive dyspnea. You walk into the room and this is what you see. What finding is present?

Central cyanosis indicates the presence of hypoxemia. SPO2 by pulse oximetry is 80%. ABG on room air shows PaO2 of 40 mm Hg and PaCO2 of 30 mm Hg. We reference our framework for hypoxemia to begin the process of narrowing our differential diagnosis.

The first thing we want to know is the A-a gradient. A (from the alveolar gas equation) = 112 mm Hg a (from the ABG) = 40 mm Hg A-a = 112 – 40 = 72 mm Hg. Elevated

Next we revisit the physical examination for more clues. There is profound peripheral cyanosis. But what else do you notice? If you don’t specifically look for this finding you might never notice it. “The eyes can’t see what the mind doesn’t know.”

Clubbing indicates that we are likely dealing with an anatomic shunt.

The patient’s precordial movement shown here is suggestive of an intracardiac shunt. Chest can move in this way when blood travels from a higher pressure chamber to a lower pressure chamber. In this case, from the right to the left.

Our diagnosis is confirmed with an echo with agitated saline contrast. Bubbles appear in the LV within 3 beats. Bubbles are normally filtered by the lungs. They only appear in the L side of the heart if there is an intracardiac (few beats) or intrapulmonary shunt (>5 beats).

We diagnosed an intracardiac shunt with our eyes, a Q-tip, and a few specific hypothesis-driven tests. Physical exam plays a critical role in diagnosis.

A 60 y/o man w chronic systolic HF is admitted with increasing dyspnea on exertion, orthopnea, and fatigue. Says his weight hasn’t changed much recently. We perform a quantitative assessment of the jugular venous pulse. Video starts w patient at 60 degrees and then reclines.

The pulse is visible just above the clavicle at 60 degrees. We estimate RA pressure to be mildly elevated at ~12-14 cm H2O (9-10 mm Hg). Are you surprised? Do symptoms seem out of proportion to RA pressure? Next we perform a qualitative assessment. What do you notice?

Based on the patient’s history and our exam, we predict mildly elevated RA pressure with markedly elevated wedge pressure. Let’s see what right heart catheterization shows.

We are correct. Mean RA pressure only 11 mm Hg but mean wedge pressure 34 mm Hg. Oh and by the way, that Kussmaul’s you observed in his neck? Here’s what it looks like on RHC. See how the RA pressure (bottom tracing) rises and falls with the respiratory cycle?

Why is this interesting? Typically R- and L-sided pressures are concordant in patients with L-sided HF. In this case, there is discordance. Wedge pressure >> RA pressure. This occurs in a minority of HF patients.

Does this matter? It goes back to the Starling curve. Top graph is a typical HF patient. Diuresis can improve cardiac function. Bottom graph is our patient. The curve is shallow. Diuresis will achieve little.

There is still some room to fully optimize RA pressure with diuresis here. But the focus should be on afterload in these patients with L>>R discordance. And, if available and appropriate, workup for advanced HF therapies (inotropes, LVAD, transplant) should commence.

We used history and physical exam to diagnose discordant L>>R filling pressures, an atypical scenario in HF patients. This has implications for treatment. Reference used: Drazner et al. J Heart Lung Transplant. 1999;18: 1126 –1132 

A 55 y/o man presents for evaluation of chronic diarrhea. We walk into the room to meet him. We have an opportunity to make an “augenblick” diagnosis – one that can be made in the blink of an eye.

We listen to his heart to help confirm our hypothesis (best with headphones). There is a holosystolic murmur over the LLSB. Notice that the intensity of the murmur seems to vary in a regular cycle? It gets louder/quieter/louder/quieter. What is the significance of this?

The augmentation of the murmur during inspiration is known as Carvallo’s sign, and indicates that the abnormal heart sound is coming from the R-side of the heart. Here is a more dramatic example in a different patient with tricuspid stenosis:

Let’s get back to the chief complaint of diarrhea. Is there a tie-in with tricuspid regurgitation? We consult our framework for diarrhea:

The diarrhea is chronic and non-bloody, making infectious (and other inflammatory) causes less likely.

Additional history reveals that the diarrhea occurs up to 15 times per day, and persists even during periods when he does not eat. These features suggest a secretory cause.

Is there a cause of secretory diarrhea in the framework that can be associated with tricuspid valve regurgitation? Yes there is.

Vasoactive substances released by carcinoid tumors can damage the heart valves, leading to stenosis and/or regurgitation. Left-sided valves are spared in most cases because the lungs inactivate the vasoactive substances before they reach the left side of the heart.

Octreotide scan shows areas of normal radiotracer uptake (bladder, kidneys, spleen), but there is a focus of increased uptake in the region of the small intestine (the primary tumor site), and multiple globular foci of increased uptake in the liver (mets).

First, we diagnosed TR with our eyes only. An augenblick diagnosis. Next, we used the diarrhea framework to identify a connection to TR, leading to hypothesis-driven confirmation.

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.

Our hypothesis takes us to the patient’s mouth.

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.

Here is a real example. I took this photo of an arrowslit inside a famous castle in Syria (Qala’at al-Hosn or Krak des Chevaliers) when I visited in 2010. There is an ogival arch right above the slit.

Now we must ask, how can Marfan’s syndrome lead to dyspnea? Before we auscultate, we anticipate what the heart will sound like. “The ears can’t hear what the mind doesn’t know.” Take a listen. (Best with headphones.)

He has a systolic murmur and a diastolic murmur. Classic for aortic insufficiency (the systolic component is like a “flow” murmur related to the large SV generated by the extra end-diastolic volume). So we revisit the hands. What finding is present in this video?

With our eyes and ears only (and with the benefit of a brief tour through Syria), we diagnosed this patient with Marfan’s syndrome complicated by aortic valve insufficiency. I hope you enjoyed the journey.

This patient presents for evaluation after family noticed he’s been “slowing down” recently. We walk in to meet him. How old do you think he is? Perhaps there is already a clue to the underlying diagnosis.

After speaking with him, our clues are starting to add up.

We take a look at his hands to further test our hypothesis. (The hands are often a rich source of diagnostic information.)

A classic finding is present. We move on to evaluate his gait, anticipating what we might see. And we see it

A classic freezing and festinating gait is observed. As the French say, marche à petits pas (“walking in little steps”). The patient has difficulty getting started, as if the feet are glued to the floor. We diagnosed Parkinson’s disease with our eyes only.

By the way, this patient is older than 70 years. The expressionless “masked facies” of Parkinson’s can possibly make patients appear younger than they are.

A young Lebanese man presents with several days of chest pain. Let’s remind ourselves where Lebanon is on the map. It may prove valuable “down the road”.

Now let’s deal with his chest pain. It can be helpful to think of chest pain as either cardiac or noncardiac in nature. The history and exam will point you down one “road” or the other

.

Our patient’s pain is substernal, sharp, and worsens when he breaths deeply. We auscult the heart with a hypothesis in mind, anticipating what we might hear. “The ears can’t hear what the mind doesn’t know”.

The quality of the pain does not sound like angina, but let’s look at his EKG to help us rule out ACS and confirm our hypothesis. We anticipate what we might see. “The eyes can’t see what the mind doesn’t know”.

Indeed, diffuse ST elevation, diffuse PR depression, and PR elevation in aVR are consistent with our hypothesis of acute pericarditis.

But why does our patient have pericarditis? Let’s review the main causes.

Additional hypothesis-driven history reveals joint pain and stiffness, especially in the morning. This points us toward a rheumatologic cause of pericarditis (connective tissue disease).

The skin and mucosa can be rich sources of clues to particular rheumatologic conditions. We start with the lower extremities and find these tender erythematous nodules on both shins.

We ask the patient if he has any other painful spots on his body. He pulls down on his lower lip and shows us this painful lesion, which he says shows up from time to time in his mouth and on his scrotum and penis.

Let’s come back to Lebanon. It is a country in the Levant, with Syria to the north and east, Palestine to the south, and the Mediterranean Sea to the west.

The territory of modern-day Lebanon was part of an ancient network of trade routes, known as the Silk Road, which extended from eastern Asia to the Mediterranean.

Silk Road disease, AKA Behçet’s disease, is a form of systemic vasculitis. It is more common in peoples whose ancestors inhabited the lands around the ancient Silk Road, including Lebanon. The pericardium is the most common site of cardiac involvement in Behçet’s disease.

We diagnosed Behçet’s with our eyes and ears and a little help from geography and ancient history. Genetic ancestry – and its imperfect surrogate terms – can provide an important clue to diagnosis. 

A man undergoes biopsy and plate/screw placement for a pathologic hip fracture and returns to the floor with new dyspnea and hypoxemia. Hypoxemia can be intimidating. Unless you have a system. Let’s go through the case. 

The first thing we want to know is the A-a gradient. The difference between partial pressure of oxygen in the alveolar space (A) and arterial space (a). 

Here is our patient’s ABG on room air. 

PAO2 = 0.21(713) – 17/0.8 = 129 mm Hg. 

PaO2 = 53 mm Hg 

A-a gradient = 129 – 53 = 76. It’s elevated. 

This narrows our differential considerably. We know we’re not dealing with hypoventilation from anesthesia. And now we can focus on the causes of elevated A-a gradient.

Our patient has clear lungs on exam and on CXR. 

The exam narrows our differential even further. Hypoxemia with elevated A-a gradient and clear would be incompatible with most causes of physiologic shunt and impaired diffusion. 

We have a patient who is hypercoagulable from an underlying malignancy and surgery and the hypoxemia is sudden in onset. These historical features should generate a hypothesis that leads us to his neck exam. What finding is present? (Turn sound on.) 

The elevated JVP and Kussmaul’s sign points to pulmonary embolism. We order an EKG, but while we wait we should begin to anticipate what electrocardiographic findings might be present in the setting of a PE. 

The eyes can’t see what the mind doesn’t know. 

Sinus tachycardia, new RBBB, R>S in V1, T wave inversions V1-3, and everyone’s favorite finding S1Q3T3. All indicative of right heart strain. Here is the preop EKG taken just 8 hours prior: 

Hypothesis-driven history led to hypothesis-driven physical exam which led to hypothesis-driven EKG, which has now led to hypothesis-driven CTA: 

And we have our diagnosis. (Either clot or fat emboli from orthopedic surgery.) 

For me, it would be impossible to practice medicine without the history and physical examination. And I use frameworks to organize my differential and workup in a hypothesis-driven way. 

A 35 y/o woman presents with numbness in feet and legs, paresthesias, 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? 

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?

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). 

Pain/temp deficits are present, but not severe. How about vibration and proprioception (large fiber, dorsal column)? 

Quite abnormal. 

How about Romberg? It evaluates proprioception (not cerebellum!). To maintain balance at least 2 of these must be intact: vision, vestibular function, proprioception. When proprioception is impaired, closing the eyes results in a loss of balance, seen here: 

 The vibration/proprioception deficits are more severe than the pain/temp deficits. And what about those brisk upper extremity reflexes? 

Does this pattern of involvement suggest any particular etiology in our differential? 

We can begin to narrow our differential almost immediately. Our pt has acquired this condition later in life, making hereditary causes unlikely. The absence of fever and other constitutional symptoms makes inflammatory polyneuropathy less likely (though still possible). 

Combo of cord involvement + peripheral neuropathy is known as myeloneuropathy.  

Corticospinal tract (brisk UE reflexes) and dorsal column involvement (vib/prop loss) = subacute combined degeneration (SCD). 

This leads to a hypothesis-driven test: 

Copper level is also low, which is likely contributing as well. Copper deficiency can present the same way as B12 deficiency, with myeloneuropathy/SCD. 

Additional history reveals chronic heavy alcohol consumption and poor diet, risk factors for the development of vitamin B12 and other micronutrient deficiencies.