Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management
Cynthia A James1, Hugh Calkins1
1Division of Cardiology, Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, Maryland 21287, USA; email: cjames7@jhmi.edu , hcalkins@jhmi.edu.
Annual Review of Medicine
|October 26, 2018
Summary
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart condition. New research offers personalized management strategies for patients and families by understanding genetic and environmental factors.
Area of Science:
- Cardiology
- Genetics
- Inherited Cardiac Diseases
Background:
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease.
- It involves fibrofatty replacement of the ventricular myocardium, leading to arrhythmias and dysfunction.
- Optimal management strategies for ARVC are still undefined.
Purpose of the Study:
- To review current understanding of ARVC.
- To explore how new insights can personalize management.
- To guide longitudinal screening for at-risk families.
Main Methods:
- Review of natural history studies.
- Analysis of pathogenic mechanisms.
- Evaluation of genetic and environmental modifiers.
Main Results:
- ARVC is linked to pathogenic variants in cardiac desmosome genes.
- Genetic testing identifies at-risk individuals, but penetrance is unpredictable.
- Endurance exercise is a key risk factor, but disease development varies.
Conclusions:
- Personalized management approaches for ARVC are emerging.
- Integrating genetic, environmental, and clinical data is crucial.
- Improved understanding facilitates better screening and care for affected families.
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