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Sudden arrhythmic death and cardiomyopathies in the young: a molecular and pathology overview
Affiliation:1. Division of Cardiology, Departments of Internal Medicine, Baylor Scott & White Heart and Vascular Institute, Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas;2. Department of Pathology, Baylor Scott & White Heart and Vascular Institute, Baylor University Medical Center, Baylor Scott & White Health, Dallas, Texas
Abstract:
Cardiovascular disease is a significant cause of sudden death (SD) requiring autopsy investigation. Non-ischaemic causes of SD are more prevalent in young people (<35 years of age) and conditions such as cardiomyopathies and channelopathies account for about one half of cases.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.
Keywords:autopsy  cardiomyopathies  genetics  sudden death
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