Arrhythmogenic ventricular cardiomyopathy is considered to be a primary cardiomyopathy. Over the last few decades, although being a relatively rare disease with its prevalence 1:2000 - 1:5000, there were numerous studies performed with the aim to elucidate the underlaying causes, pathogenesis, diagnostical aspects and possible treatment options of the disease. Arrhythmogenic ventricular cardiomyopathy is genetically conditioned disease where proteins of the cell-cell junctions are involved. Mutations of the myocardial intercalated dics proteins, mainly desmosomal proteins (e.g.plakoglobin), are held to be responsible for electromechanical instability of the myocardium which causes regressive changes in cardiomyocytes in most cases of arrhythmogenic ventricular cardiomyopathy. Subsequent morphological changes include fibrofatty replacement and inflammation of the myocardium. The condition results in structural changes of the heart hence arrhytmias and other signs of heart disease. There are 3 variants of this cardiomyopathy: 'classical variant with predominant right ventricular involvement, biventricular and variant with left ventricular predominance. Clinical findings in patients with arrhythmogenic ventricular cardiomyopathy suggested the most appropriate means of the diagnostics and helped to create Task Force Criteria for in vivo diagnosis of the disease. The major pitfall and significance of arrhythmogenic ventricular cardiomyopathy lies in its common presentation as sudden cardiac death affecting mostly young adults.
Keywords: arrhythmogenic cardiomyopathy - intercalated disc - plakoglobin - desmosome - sudden death..