Genetic Insights and Multidisciplinary Management of Arrhythmogenic Right Ventricular Dysplasia: A Case Report

Introduction: Arrhythmogenic right ventricular dysplasia (ARVD) is a rare inherited cardiomyopathy with a predominantly autosomal dominant pattern, characterized by fibrofatty infiltration of the myocardium. Mutations in desmosomal protein genes such as PKP2 and DSP are common genetic contributors (1). Case Presentation: This case involves a 59-year-old male with a family history of sudden death who experienced recurrent episodes of sustained ventricular tachycardia. Diagnostic tests, including magnetic resonance imaging and genetic analysis, confirmed ARVD, revealing fibrofatty infiltration in the right ventricle and systolic dysfunction. The patient underwent successful implantation of a bicameral cardioverter-defibrillator, preventing further arrhythmias (2). Discussion: Early diagnosis through clinical and genetic evaluation is crucial for managing ARVD and preventing complications such as sudden cardiac death. The integration of genetic testing, particularly for desmosomal mutations, significantly enhances the diagnostic process and guides tailored treatment strategies. This case highlights the interdisciplinary approach required, involving cardiology, electrophysiology, and genetics, to improve prognosis and quality of life in ARVD patients (3).