A 35-year-old man presents with progressive dyspnea and palpitations. Cardiac MRI shows fibrofatty replacement of the right ventricular myocardium. Genetic testing reveals a mutation in plakophilin-2 (PKP2). What is the most likely diagnosis?

• A Hypertrophic cardiomyopathy
• B Dilated cardiomyopathy
• C Cardiac sarcoidosis
• D Arrhythmogenic right ventricular cardiomyopathy ✓

Explanation

Arrhythmogenic right ventricular cardiomyopathy (ARVC), now termed arrhythmogenic cardiomyopathy, is characterized by progressive fibrofatty replacement of the right ventricular myocardium causing ventricular arrhythmias. It most commonly results from mutations in desmosomal proteins, with plakophilin-2 (PKP2) being the most frequently mutated gene. Hypertrophic cardiomyopathy involves sarcomere protein mutations. Sarcoidosis shows non-caseating granulomas. Robbins 10th ed, Chapter 12.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.