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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
Summary
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.
Keywords:
Arrhythmogenic cardiomyopathyArrhythmogenic right ventricular cardiomyopathyGenotypeRisk stratificationMore Related Videos
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