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Updated: Aug 29, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Genotype-phenotype Correlates in Arrhythmogenic Cardiomyopathies

Brittney Murray1, Cynthia A James2

  • 1School of Medicine/Division of Cardiology, Johns Hopkins University, 600 N. Wolfe St. Blalock 545, Baltimore, MD, 21287, USA. Bmurray@jhmi.edu.

Current Cardiology Reports
|September 8, 2022
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) now includes various genetic heart conditions. Genetic testing is crucial for diagnosing and managing ACM, guiding genotype-specific treatments for better patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic cardiomyopathy (ACM) definition has evolved beyond arrhythmogenic right ventricular cardiomyopathy (ARVC).
  • Genetic testing is increasingly vital for ACM diagnosis and management.
  • Genotype-phenotype correlations are key to understanding ACM heterogeneity.

Purpose of the Study:

  • To review the expanded definition of ACM and its genetic basis.
  • To highlight the importance of genetic testing in ACM diagnosis and management.
  • To discuss genotype-specific management strategies for ACM.

Main Methods:

  • Review of recent literature and consensus guidelines on ACM.
  • Analysis of genotype-phenotype correlations in various ACM subtypes.
  • Discussion of diagnostic criteria and clinical implications.

Main Results:

  • Plakophilin-2 (PKP2) ACM often presents with right ventricular involvement and arrhythmias.
  • Desmoplakin (DSP) ACM may show normal ECGs and left ventricular subepicardial scarring.
  • Other genetic variants (e.g., FLNC, DSP, PKP2) present distinct ECG patterns, imaging findings, and arrhythmia risks.

Conclusions:

  • Recognizing genetic differences in ACM is crucial for tailored clinical management.
  • Genetic testing provides essential diagnostic and prognostic information for ACM patients.
  • Emerging genotype-specific therapies offer new avenues for ACM treatment.
Abstract

Keywords:
Arrhythmogenic cardiomyopathyArrhythmogenic right ventricular cardiomyopathyGenotypeRisk stratification

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