Sudden arrhythmic death and cardiomyopathies in the young: a molecular and pathology overview

The pathologist's task is to provide the correct diagnosis and, when dealing with a genetic disease, to initiate pre-symptomatic cardiologic and genetic cascade screening of first-degree family members. Early identification is important because SD can be the first and last clinical presentation of the underlying disease and the only medical examination undertaken is the autopsy. A standardized and detailed post-mortem procedure on the SD victims, in combination with molecular testing (“molecular autopsy”), will provide vital information for the family in preventing a further tragedy. Therefore proper sampling to allow post-mortem DNA analysis as well as accurate morphological evaluation, are mandatory, as recommended in the guidelines for autopsy investigation of SD from the Association for European Cardiovascular Pathology.