Arrhythmogenic right ventricular dysplasia.

Area of Science:

• Cardiology
• Genetics
• Pathology

Background:

• Arrhythmogenic right ventricular dysplasia (ARVD), also known as ARVD/C, is a primary inherited cardiomyopathy.
• It typically follows an autosomal-dominant inheritance pattern, leading to ventricular arrhythmias and a significant risk of sudden cardiac death.
• While primarily affecting the right ventricle (RV), left ventricular involvement can also occur.

Purpose of the Study:

• To summarize the key aspects of Arrhythmogenic right ventricular dysplasia (ARVD/C).
• To highlight diagnostic approaches and current management strategies for ARVD/C.
• To emphasize the primary goal of preventing sudden death in affected individuals.

Main Methods:

• Review of pathological findings including RV myocardial atrophy, thinning, aneurysm, and dilatation.
• Emphasis on the increasing role of genetic testing and RV magnetic resonance imaging in diagnosis.
• Application of a diagnostic scoring system with major and minor criteria.

Main Results:

• Pathological hallmarks include RV myocardial atrophy, thinning, and dilatation.
• Genetic testing and RV MRI are becoming integral to diagnosis.
• A scoring system is crucial for definitive diagnosis.

Conclusions:

• Sudden death prevention is the paramount objective in managing ARVD/C.
• Pharmacological treatment, catheter ablation for ventricular tachycardia, and implantable cardioverter-defibrillators are primary therapeutic interventions.
• Comprehensive diagnostic and management strategies are essential for patients with ARVD/C.