Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy

Summary

This review focuses on advances in clinical risk stratification, genetic etiology, and pathophysiological concepts. The desmosome is the central part of the disease, but other intercalated disc and associated structural proteins not only broaden the genetic spectrum but also provide novel molecular and cellular insights into the pathogenesis of ACM. Signaling pathways and the role of inflammation will be discussed and targets for novel therapeutic approaches outlined. Genetic discoveries and experimental-driven preclinical research contributed significantly to the understanding of ACM towards mutation- and pathway-specific personalized medicine. © 2021. The Author(s).

Authors Gerull B, Brodehl A
Journal Current heart failure reports
Publication Date 2021 Dec;18(6):378-390
PubMed 34478111
PubMed Central PMC8616880
DOI 10.1007/s11897-021-00532-z

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