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Arrhythmogenic Left Ventricular Cardiomyopathy: Genotype-Phenotype Correlations and New Diagnostic Criteria

Giulia Mattesi1, Alberto Cipriani1, Barbara Bauce1

  • 1Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, 35128 Padua, Italy.

Journal of Clinical Medicine
|June 2, 2021
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) involves inherited heart muscle disease with fibrofatty replacement. New criteria address left-sided variants, crucial for diagnosing this condition in athletes and young individuals.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease.
  • Characterized by fibrofatty replacement of ventricular myocardium, leading to arrhythmias and sudden cardiac death.
  • Traditionally focused on right ventricle (RV) involvement, ACM can also affect the left ventricle (LV).

Purpose of the Study:

  • To review current knowledge on the genetic basis of ACM.
  • To describe phenotypic expressions, focusing on left-sided variants (biventricular and left-dominant).
  • To highlight updated diagnostic criteria for the full spectrum of ACM phenotypes.

Main Methods:

  • Review of existing literature on arrhythmogenic cardiomyopathy.
  • Analysis of genetic associations, including desmosomal and non-desmosomal mutations.
  • Emphasis on cardiac magnetic resonance (CMR) in diagnosing left-sided ACM variants.

Main Results:

  • ACM involves fibrofatty replacement, predisposing to ventricular arrhythmias and sudden death.
  • Left-dominant and biventricular forms of ACM are increasingly recognized.
  • Non-desmosomal mutations are linked to these left-sided variants.

Conclusions:

  • The 2010 International Task Force criteria require re-evaluation due to their focus on RV manifestations.
  • The Padua Criteria, incorporating CMR, offer an updated approach for diagnosing the spectrum of ACM phenotypes.
  • Accurate diagnosis of left-sided ACM variants is essential, particularly in young individuals and athletes.

Keywords:
arrhythmogenic cardiomyopathydifferential diagnosisgeneticsleft ventricular arrhythmogenic cardiomyopathymutation

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