Arrhythmogenic cardiomyopathy is a heritable condition characterized by ventricular arrhythmias and progressive dysfunction, with pathogenesis driven by a combination of genetic variants and environmental factors such as exercise.
Genetic testing is crucial for the management of affected individuals and predictive testing in family members with arrhythmogenic cardiomyopathy, which may follow a threshold model of inheritance.
Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden cardiac death is elevated in ACM patients and can be the presenting symptom particularly in younger individuals and athletes. This review describes current understanding of the genetic architecture of ACM and molecular mechanisms of ACM pathogenesis. We consider an emerging threshold model for ACM inheritance in which multiple factors including pathogenic variants in known ACM genes, genetic modifiers, and environmental exposures, particularly exercise, are required to reach a threshold for disease expression. We also review best practices for integrating genetics-including recent discoveries-in caring for ACM families and emphasize the utility of genotype for both management of affected individuals and predictive testing in family members.
James et al. (Tue,) conducted a review in Arrhythmogenic Cardiomyopathy. Arrhythmogenic cardiomyopathy is a heritable condition characterized by ventricular arrhythmias and progressive dysfunction, with pathogenesis driven by a combination of genetic variants and environmental factors such as exercise.
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