Journal
FORENSIC SCIENCE INTERNATIONAL
Volume 203, Issue 1-3, Pages 15-24Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.forsciint.2010.07.015
Keywords
Sudden cardiac death; Cardiomyopathies; Arrythmogenic diseases; Mutation screening; Next generation sequencing; Genome wide association studies
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Sudden cardiac death (SCD) is a major health problem and constitutes one of the most important unsolved challenges in the practice of forensic pathology due to the failure to determine the cause of death. Particularly, an important number of previously healthy young people who have died suddenly and unexpectedly are consequence of genetic heart disorders, either structural cardiomyopathies or arrhythmogenic abnormalities. The technological approach to analyze this type of genetically heterogeneous disorders is far from easy but nowadays the variety of chemistries and methodologies improves choice. This review offers to the reader a state of the art of the available technologies for the study of genetics of sudden cardiac death, including mutation screening approaches, genome wide association studies, and the recently developed next-generation sequencing. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
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