MicroRNAs unlock mystery of arrhythmogenic cardiomyopathy

Abstract

Arrhythmogenic cardiomyopathy (ACM) is a rare heterogeneous disease caused by pathogenic alterations in genes encoding desmosomal and also non-desmosomal proteins. This entity is characterized by a loss of cardiomyocytes and fibrofatty replacement at an epicardial level, but can also present fibrofatty infiltration leading to malignant arrhythmias and sudden cardiac death, which can sometimes be the first symptom of the disease. The latest European Task Force criteria have proposed using the name ACM to cover a wider phenotypic range involving biventricular, left-sided and right-sided affection. Also, they included the advancement of cardiac magnetic resonance imaging and late gadolinium enhancement patterns to characterize the myocardial scarring so as to discriminate between other non-scar conditions as phenocopies, which increases diagnostic accuracy and sensitivity. In addition, novel left ventricle depolarization and repolarization impairment have been included under ACM, as also have arrhythmias.