Background: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited myocardial disease characterized by progressive fibro-fatty replacement of ventricular myocardium and a predisposition to ventricular arrhythmias. It may remain clinically silent and be revealed by sudden cardiac death, particularly in young adults.

Case Presentation: We report the medico-legal investigation of a 27-year-old man, weighing 87 kg, with no known previous medical history, who collapsed suddenly at work and was declared dead on arrival at hospital. Autopsy revealed a heart weighing 340 g. The coronary arteries were patent and free of significant obstructive lesions or thrombosis. Macroscopic examination showed focal marked thinning of the right ventricular free wall, measuring approximately 0.2 to 0.5 cm. Serial cardiac sectioning was followed by targeted histological sampling. Hematoxylin and eosin-stained sections demonstrated infiltration of the right ventricular myocardium by mature adipose tissue, dissociating and replacing myocardial fibers, with residual atrophic cardiomyocytes and a mild interstitial inflammatory infiltrate. Toxicological analyses were negative for the substances tested. The overall autopsy, toxicological, and histopathological findings supported a natural cardiac death, most probably due to a fatal ventricular arrhythmia complicating ARVC/D.

Conclusion: This case highlights the importance of systematic cardiac examination and histological sampling in sudden unexplained death in young adults. Post-mortem recognition of ARVC/D is not only diagnostic, but also preventive, as it should prompt cardiological evaluation and genetic counselling of first degree relatives.

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