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Arrhythmogenic Cardiomyopathy: A Disease or Merely a Phenotype?

Alexandros Protonotarios1,2, Perry M Elliott1,2

  • 1Institute of Cardiovascular Science, University College London, London, UK.

European Cardiology
|March 18, 2020
PubMed

Insights

Arrhythmogenic cardiomyopathy (AC) has evolved, revealing diverse phenotypes influenced by genetics and acquired factors. Identifying these AC phenotypes and causes is key for personalized cardiology treatments.

Area of Science:

  • Cardiology
  • Genetics
  • Personalized Medicine

Background:

  • Arrhythmogenic cardiomyopathy (AC) is a complex cardiac condition with evolving diagnostic criteria.
  • Recent advances in cardiac imaging and genetic testing have significantly impacted AC understanding.
  • AC presents with multiple phenotypes, influenced by both genetic predispositions and acquired factors.

Purpose of the Study:

  • To summarize current approaches for identifying arrhythmogenic cardiomyopathy phenotypes.
  • To outline methods for determining the underlying causes of AC.
  • To highlight AC as a model for personalized medicine in cardiology.

Main Methods:

  • Review of recent advancements in cardiac imaging techniques.
  • Integration of genetic testing in clinical practice for AC diagnosis.
  • Phenotypic analysis correlating genetic and acquired factors with AC presentation.

Main Results:

  • AC encompasses diverse phenotypes, not a single disease entity.
  • Genetic and acquired factors play crucial roles in AC development and manifestation.
  • Improved disease stratification is achievable through comprehensive phenotyping.

Conclusions:

  • Arrhythmogenic cardiomyopathy serves as a paradigm for personalized cardiovascular medicine.
  • Accurate identification of AC phenotypes and causes is essential for targeted therapies.
  • Enhanced disease stratification will facilitate the development of mechanism-based treatments for AC.

Keywords:
Arrhythmogenic cardiomyopathydiseasegeneticsphenotypetreatment

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