A 35-Year-Old Man Is Evaluated for Progressive Fatigue and Shortness

A 35-year-old man is evaluated for progressive fatigue and shortness of breath.  Recently, he has noticed bilateral leg swelling and abdominal distension despite overall weight loss.  He does not use tobacco, alcohol, or illicit drugs.  Despite treatment, the patient dies several weeks later.  Autopsy reveals significant endocardial thickening with dense fibrous deposits around the tricuspid and pulmonary valves as well as moderate pulmonary valve stenosis.  The left-sided cardiac chambers and valves are normal.  Measuring the levels of which of the following substances would have helped in diagnosing this patient?

A) Plasma cortisol
B) Plasma homocysteine
C) Plasma phenylalanine
D) Urinary 5-hydroxyindoleacetic acid
E) Urinary porphobilinogen
F) Urinary vanillylmandelic acid

Correct Answer:

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