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Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology

Xuehui Fan1,2,3, Guoqiang Yang2,4,5, Firat Duru6

  • 1Key Laboratory of Medical Electrophysiology, Ministry of Education and Medical Electrophysiological Key Laboratory of Sichuan Province, Collaborative Innovation Center for Prevention of Cardiovascular Diseases, Institute of Cardiovascular Research, Southwest Medical University, Luzhou, Sichuan, China.

Stem Cell Reviews and Reports
|September 21, 2023
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition causing sudden cardiac death. This review examines preclinical models to understand ACM

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is an inherited heart disease.
  • It involves fibrous fatty deposits in the ventricular myocardium.
  • ACM is a leading cause of sudden cardiac death (SCD) in young individuals.

Purpose of the Study:

  • To review and summarize preclinical models of ACM.
  • To assess the utility of these models in understanding ACM pathogenesis.
  • To evaluate their role in elucidating ACM genotype-phenotype relationships.

Main Methods:

  • Review of existing literature on ACM preclinical models.
  • Analysis of various models including gene-targeted and transgenic animals, hiPSC-CMs, and heterologous expression systems.
  • Assessment of model applicability for studying ACM mechanisms.

Main Results:

  • Significant advancements in genetic analysis have identified ACM genetic backgrounds.
  • Various preclinical models have been developed to study ACM.
  • These models offer platforms to investigate ACM pathogenesis and genotype-phenotype correlations.

Conclusions:

  • Preclinical models are crucial for advancing the understanding of ACM.
  • Further research using these models is needed to clarify molecular mechanisms and genotype-phenotype correlations.
  • Improved understanding will aid in predicting prognosis and guiding treatment for ACM patients.

Keywords:
Animal modelsArrhythmogenic cardiomyopathyDesmosomesHuman-induced pluripotent stem cell-derived cardiomyocytesPathophysiology

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