USMLE Step 1 - Question 29

A 34 year old male experiences shortness of breath with minimal exertion. Physical examination reveals elevated jugular venous pressure markedly worse with inspiration, a regular rhythm with an S4 heart sound and 2+ lower extremity pitting edema. Laboratory studies are normal. Cardiac biopsy revealed apple green birefringence with congo red staining. Genetic testing reveals a mutation in the transthyretin gene. Which of the following is the correct diagnosis?

A. Restrictive cardiomyopathy

B. Dilated cardiomyopathy

C. Constrictive pericarditis

D. Hypertrophic obstructive cardiomyopathy

E. Chagas cardiomyopathy

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