Arrhythmogenic right ventricular cardiomyopathy (ARVC)
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A 25-year-old athlete has palpitations and sustained VT with LBBB morphology. MRI reveals RV dilation with fatty infiltration and wall motion abnormalities. Family history reveals a cousin who died suddenly.
AD (reduced penetrance); desmosomal genes
- PKP2 (plakophilin-2) most common
- Also: DSP, DSG2, DSC2, JUP
- RV fibrofatty replacement
- Ventricular arrhythmias (often LBBB morphology VT)
- Sudden cardiac death (especially athletes)
- Progressive RV failure (later LV involvement)
- ECG: T-wave inversions V1-V3, epsilon waves
- 2010 Task Force Criteria combine major and minor findings across six categories: imaging (echo or cardiac MRI showing RV dilation, dysfunction, or aneurysm), tissue (fibrofatty replacement on biopsy), repolarization (T-wave inversion V1-V3), depolarization (epsilon waves, late potentials on signal-averaged ECG), arrhythmia (LBBB-morphology VT/PVCs), and family history or a pathogenic variant
- Cardiac MRI is the preferred imaging study for RV structure and fibrofatty infiltration
- Genetic testing of desmosomal genes confirms the diagnosis and enables cascade screening of at-risk relatives
- Activity restriction (no competitive sports), ICD for high-risk, antiarrhythmics
Arrhythmias vs cardiomyopathies: Arrhythmias are mostly due to ion channels; cardiomyopathies are mostly due to sarcomere or structural protein mutations. ARVC is due to desmosome dysfunction (PKP2 and other desmosomal genes)
ARVC pathway: Desmosomes fail --> cardiomyocytes detach and die --> fibrofatty replacement of RV myocardium --> substrate for ventricular arrhythmias --> triggered by exercise