Arrhythmogenic Cardiomyopathy

Arrhythmogenic cardiomyopathy (ACM) is an inherited myocardial disorder characterized by progressive fibrofatty replacement of the myocardium, predisposing affected individuals to ventricular arrhythmias and sudden cardiac death. Pathogenic variants in desmosomal genes, most frequently PKP2, are the predominant genetic basis of ACM. Genotype-positive individuals demonstrate marked variability in penetrance and phenotypic expression, influenced by several modifiers, including intense exercise.