New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

概要

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The intercalated disc (ID) contains different junctional complexes, adhesion junction (AJ) and gap junction (GJ) that enable the myocardium to function as a syncytium. The AJ mediates normal mechanical coupling between cardiomyocytes and plays a key role in the formation and stability of GJ. Recent studies have linked arrhythmogenic right ventricular cardiomyopathy (ARVC) with mutation in proteins in cardiac desmosome. To determine whether alterations in the distribution of desmosomal protein can be used as a new diagnostic test for ARVC, we performed immunohistochemical examination of human myocardial samples. We tested myocardium from 3 subjects with ARVC who had desmosomal gene, desmoglein 2 or plakophilin 2 (PKP2) mutations. We also tested from 4 subjects with no clinical or pathological evidence of ARVC. All ARVC samples, but no non-ARCV formalin-fixed samples specifically showed a marked reduction in immunoreactive signal levels for plakoglobin and PKP2. These results suggest that the plakoglobin and PKP2 level were reduced diffusely in ARVC and these findings might be useful for a new diagnostic marker for ARVC.