Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review
Vincenzo Cianci1, Elena Forzese1, Daniela Sapienza1
1Department of Biomedical and Dental Sciences and Morphofunctional Imaging, Section of Legal Medicine, University of Messina, Via Consolare Valeria, 1, 98125 Messina, Italy.
International Journal of Molecular Sciences
|March 13, 2024
Summary
Diagnosing arrhythmogenic right ventricular cardiomyopathy (ARVC) post-mortem is challenging. This review outlines diagnostic methods, including genetic testing, to improve identification and aid family screening for this inherited heart condition.
Area of Science:
- Cardiology
- Forensic Pathology
- Genetics
Background:
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic heart disease causing fibro-fatty replacement of the myocardium.
- It presents heterogeneously, from asymptomatic cases to sudden cardiac death due to ventricular arrhythmias.
- Pathology can affect the right ventricle, left ventricle, or both.
Approach:
- A systematic literature review was conducted using PubMed and Scopus.
- The review evaluated current diagnostic techniques for post-mortem ARVC identification.
- A methodological approach for post-mortem diagnosis was described, analyzing macroscopic, microscopic, and radiological findings.
Key Points:
- Post-mortem diagnosis of ARVC is challenging for forensic pathologists.
- Genetic testing is crucial for identifying ARVC, especially when structural damage is not evident.
- Genetic testing aids in characterizing the disease and facilitates family screening programs.
Conclusions:
- A clear methodological approach is needed to reduce under-diagnosis of ARVC.
- Improved post-mortem diagnostic strategies enhance understanding of ARVC.
- Accurate diagnosis is vital for identifying at-risk family members through targeted screening.
Keywords:
arrhythmogenic right ventricular cardiomyopathycardiomyopathyfamily screening for cardiomyopathiespost-mortem analysispost-mortem genetic testsudden cardiac deathMore Related Videos
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