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ARVC as the cause of death in young athletes

Publication at Second Faculty of Medicine |
2010

Abstract

Arrythmogenic right ventricular dysplasia, also known as right ventricular cardiomyopathy/ dysplasia (ARVC, ARVD, ARVC/D) is a disorder which is caused by genetic mutations of desmosomal proteins. These proteins are part of the structure of myocardial tissue which connects the myocardial cells.

Due to the progressive nature of the disease people afflicted with ARVC often do not show early symptoms. The manifestation of the disease may be death of apparently healthy and fit individuals.

Even when signs of the disease can be detected it isn't always simple to verify a clinical diagnosis of ARVC. At the moment it is under discussion how the diagnosis of ARVC can effectively, and inexpensively, be determined.

This problem can also be demonstrated by comparing autopsy results from the bodies of two athletes who died suddenly. These two young men had previously manifested non-specific clinical symptoms but they died without the diagnosis of ARVC.