Molecular genetics of sudden cardiac death.
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.
Rodríguez-Calvo
María Sol
MS
Institute of Legal Medicine, University of Santiago de Compostela, Spain. msol.rodriguez@usc.es
Brion
María
M
Allegue
Catarina
C
Concheiro
Luis
L
Carracedo
Angel
A
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
D002395:Catecholamines