title: Molecular genetics of sudden cardiac death.
abstract: Sudden cardiac death (SCD) is one of the most common causes of death. An important number of sudden deaths, especially in the young, are due to genetic heart disorders, both with structural and arrhythmogenic abnormalities. In recent years, significant advances have been made in understanding the genetic basis of SCD. Identification of the genetic causes of sudden death is important because close relatives are also at potential risk of having a fatal cardiac condition. A comprehensive post-mortem investigation is vital to determine the cause and manner of death and provides the opportunity to assess the potential risk to the family after appropriate genetic counselling. In this paper, we present an update of the different genetic causes of sudden death, emphasizing their importance for the forensic pathologist due to his relevant role in the diagnosis and prevention of SCD.
authors.affiliation: Institute of Legal Medicine, University of Santiago de Compostela, Spain. msol.rodriguez@usc.es
authors.forename: María Sol
authors.initials: MS
authors.lastname: Rodríguez-Calvo
authors.forename: María
authors.initials: M
authors.lastname: Brion
authors.forename: Catarina
authors.initials: C
authors.lastname: Allegue
authors.forename: Luis
authors.initials: L
authors.lastname: Concheiro
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
mesh_terms: D002395:Catecholamines / Q000378:metabolism; D053447:Channelopathies / Q000150:complications; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D049429:Forensic Pathology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006331:Heart Diseases / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D010819:Physician's Role
chemical_list: D002395:Catecholamines