Mutations in desmosomal protein genes and the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.

摘要

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary disease of heart muscle associated with serious arrhythmias and/or sudden death that may occur early in the disease before significant structural remodeling and contractile dysfunction develop. It typically affects the right ventricular free wall, although left dominant and biventricular forms are being recognized increasingly. The characteristic pathological features are degeneration of cardiac myocytes and replacement by fat and fibrous tissue, but the extent of this change can be quite variable and it is not necessarily conspicuous in patients who die suddenly.