Science and practice of arrhythmogenic cardiomyopathy: A paradigm shift

Abstract

The clinical, genetic, and molecular paradigm of arrhythmogenic right ventricular cardiomyopathy (ARVC) has markedly progressed through the last three decades, shifting from the classical ARVC as a progressive condition characterized by fibrofatty replacement of the right ventricle,2,3,4 into a wider spectrum of arrhythmogenic cardiomyopathy (AC),5 which covers ARVC with its various clinical phases (occult, electric, right heart failure and late stage biventricular heart failure), biventricular arrhythmic cardiomyopathy, left dominant arrhythmic cardiomyopathy, Naxos and Carvajal syndromes. Epidemiologically, the disease was first associated with the Mediterranean basin (mainly Italy and France), however further studies have reported AC in many races and ethnic backgrounds6,7,8. Moreover, with regard to the pathoitiology of the disease, dysplasia was originally assumed as the disease mechanism. Other mechanisms were later postulated, such as inflammation and transdifferentiation. However, more recent animal models have established that dystrophy, either by myocyte necrosis or apoptosis, is the founding pathological process of AC

Syncope and recurrent ventricular tachycardia with a newly-identified desmosomal gene mutation

“…PKP2 gene (plakophillin-2) is a desmosomal gene which encodes for PKP2 protein 10 ( Figure 9 ). The most common form of ARVC, or Type 9, is caused by a mutation in this gene.…”

“…Binding of these proteins tethers desmin intermediate filaments to the plasma membrane in cardiac myocytes and adheres adjacent myocytes together. 10 …”

Arrhythmogenic right ventricular dysplasia / THE DARK VOYAGE OF THE FEARLESS EAGLE /Case presentation and review of the literature

“…Right ventricular contrast angiography, is not routinely performed, only if we still miss the exact diagnosis by other imaging. It may provide valuable information about the RV structure and function [33] . Findings include: hypertrophic trabeculae aligned transversely and detached by deep fissures; coarse trabeculae in the apical region; increased RV volume.…”