Arrhythmogenic cardiomyopathy is primarily driven by pathogenic variants in desmosomal genes like PKP2, with disease penetrance and expression significantly influenced by intense exercise.
Arrhythmogenic cardiomyopathy is primarily driven by desmosomal gene variants (e.g., PKP2) and its phenotypic expression is modified by factors such as intense exercise.
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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.
Zhubrina et al. (Sun,) reported a other. Arrhythmogenic cardiomyopathy is primarily driven by pathogenic variants in desmosomal genes like PKP2, with disease penetrance and expression significantly influenced by intense exercise.