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Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy

Carlos Bueno-Beti1, Angeliki Asimaki1

  • 1Molecular and Clinical Sciences Research Institute, St. George's University of London, London, United Kingdom.

Frontiers in Cardiovascular Medicine
|December 24, 2021
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition causing arrhythmias and sudden death. This review explores biomarkers in blood and buccal cells for non-invasive diagnosis and screening.

Area of Science:

  • Cardiology
  • Genetics
  • Biomarker Research

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease affecting approximately 1 in 5,000 individuals.
  • It is characterized by ventricular arrhythmias, sudden cardiac death (SCD), and fibrofatty replacement of cardiac myocytes.
  • Over 60% of ACM cases are linked to mutations in genes encoding desmosomal proteins, crucial for cardiac cell adhesion.

Purpose of the Study:

  • To review current and potential biomarkers for arrhythmogenic cardiomyopathy.
  • To discuss the impact of these biomarkers on ACM diagnosis, prognosis, and management.
  • To explore non-invasive diagnostic and screening alternatives to myocardial biopsy.

Main Methods:

  • Literature review of reported biomarkers for arrhythmogenic cardiomyopathy.
  • Analysis of diagnostic potential in surrogate tissues like blood and buccal epithelium.
  • Evaluation of biomarker applicability for risk stratification and cascade screening.

Main Results:

  • Desmosomal protein redistribution in intercalated disks is a potential marker but requires myocardial samples.
  • Biomarkers in blood and buccal epithelium offer a non-invasive, safe, and cost-effective alternative.
  • Several biomarkers have been reported, with ongoing research into their clinical utility.

Conclusions:

  • Non-invasive biomarkers hold significant promise for improving ACM diagnosis and cascade screening.
  • Further research is needed to validate these biomarkers for clinical application.
  • Effective biomarkers could revolutionize the management of arrhythmogenic cardiomyopathy and affected families.

Keywords:
arrhythmogenic cardiomyopathybuccal cellsdesmosomeshistopathologyintercalated diskplasma auto-antibodiesprotein markerssudden cardiac death

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