Chapter 2 - Arrhythmogenic Cardiomyopathy: History and Pathology

Abstract

Arrhythmogenic right ventricular cardiomyopathy is a life-threatening morbid entity, which drew the attention of the scientific community being a significant cause of premature death. In the modern era, it has been first reported in the late 1960s and 1970s as a cause of right ventricular hemodynamic impairment and electrocardiographic abnormalities (epsilon wave). Soon after, autopsy studies demonstrated that young people, especially athletes, may die suddenly and instantaneously because abrupt lethal cardiac arrhythmias, namely ventricular fibrillation, precipitated by exercise. A heredofamilial background was then demonstrated, opening the door to the genetic discoveries of mutations of genes encoding mostly for desmosomal proteins, so that it is now also termed “desmosomal disease.” Major advances have been achieved in terms of diagnostic criteria and imaging tools to detect the pathognomonic features of the disease, that is, the fibrofatty replacement of the ventricular myocardium due to progressive cell death leading often to wall thinning and aneurysms. Genotype–phenotype correlations clearly showed that the disease should not be considered anymore a cardiomyopathy of the right ventricle, but a biventricular disease (arrhythmogenic cardiomyopathy). The present chapter will deal with some aspects of the disease: history, terminology, biological background, pathology, and morphological criteria for diagnosis, endomyocardial biopsy, and recapitulation of the disease in transgenic mice.