Genome Editing for the Understanding and Treatment of Inherited Cardiomyopathies

Int J Mol Sci. 2020 Jan 22;21(3):733. doi: 10.3390/ijms21030733.


Cardiomyopathies are diseases of heart muscle, a significant percentage of which are genetic in origin. Cardiomyopathies can be classified as dilated, hypertrophic, restrictive, arrhythmogenic right ventricular or left ventricular non-compaction, although mixed morphologies are possible. A subset of neuromuscular disorders, notably Duchenne and Becker muscular dystrophies, are also characterized by cardiomyopathy aside from skeletal myopathy. The global burden of cardiomyopathies is certainly high, necessitating further research and novel therapies. Genome editing tools, which include zinc finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs) and clustered regularly interspaced short palindromic repeats (CRISPR) systems have emerged as increasingly important technologies in studying this group of cardiovascular disorders. In this review, we discuss the applications of genome editing in the understanding and treatment of cardiomyopathy. We also describe recent advances in genome editing that may help improve these applications, and some future prospects for genome editing in cardiomyopathy treatment.

Keywords: CRISPR/Cas9; Cpf1 (Cas12a); Duchenne muscular dystrophy; arrhythmogenic right ventricular cardiomyopathy (ARVC); dilated cardiomyopathy (DCM); dystrophin; genome editing; hypertrophic cardiomyopathy (HCM); left ventricular non-compaction cardiomyopathy (LVNC); restrictive cardiomyopathy (RCM).

Publication types

  • Review

MeSH terms

  • Animals
  • CRISPR-Cas Systems / genetics
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / therapy*
  • Gene Editing / methods
  • Genome / genetics*
  • Humans
  • Transcription Activator-Like Effector Nucleases / genetics
  • Zinc Finger Nucleases / genetics


  • Transcription Activator-Like Effector Nucleases
  • Zinc Finger Nucleases