A 28-year-old man presents with sustained monomorphic ventricular tachycardia with left bundle branch block morphology and superior axis. Echocardiogram shows a dilated right ventricle with regional akinesia and fatty replacement on cardiac MRI. Which gene mutation is most commonly associated with this condition?

• A MYH7 (beta-myosin heavy chain)
• B LMNA (lamin A/C)
• C TNNT2 (cardiac troponin T)
• D PKP2 (plakophilin-2) ✓

Explanation

The presentation describes arrhythmogenic right ventricular cardiomyopathy (ARVC): RV dilation, fatty/fibrofatty replacement on MRI, and VT with LBBB morphology (originating from the RV). ARVC is predominantly caused by mutations in desmosomal proteins. PKP2 (plakophilin-2) is the most common gene, accounting for the majority of familial cases. MYH7, TNNT2, and LMNA are associated with hypertrophic or dilated cardiomyopathies, not ARVC.

Reference: Braunwald's Heart Disease, 12th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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