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Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.

Brenda GerullAndreas Brodehl
Published in: Current heart failure reports (2021)
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.
Keyphrases
  • genome wide
  • copy number
  • signaling pathway
  • oxidative stress
  • heart failure
  • stem cells
  • bone marrow
  • epithelial mesenchymal transition
  • induced apoptosis