title: State of the art in forensic investigation of sudden cardiac death.
abstract: The sudden death of a young person is a devastating event for both the family and community. Over the last decade, significant advances have been made in understanding both the clinical and genetic basis of sudden cardiac death. Many of the causes of sudden death are due to genetic heart disorders, which can lead to both structural (eg, hypertrophic cardiomyopathy) and arrhythmogenic abnormalities (eg, familial long QT syndrome, Brugada syndrome). Most commonly, sudden cardiac death can be the first presentation of an underlying heart problem, leaving the family at a loss as to why an otherwise healthy young person has died. Not only is this a tragic event for those involved, but it also presents a great challenge to the forensic pathologist involved in the management of the surviving family members. Evaluation of families requires a multidisciplinary approach, which should include cardiologists, a clinical geneticist, a genetic counselor, and the forensic pathologist directly involved in the sudden death case. This multifaceted cardiac genetic service is crucial in the evaluation and management of the clinical, genetic, psychological, and social complexities observed in families in which there has been a young sudden cardiac death. The present study will address the spectrum of structural substrates of cardiac sudden death with particular emphasis given to the possible role of forensic molecular biology techniques in identifying subtle or even merely functional disorders accounting for electrical instability.
authors.affiliation: Institute of Forensic Medicine and Laboratory of Forensic Genetics, Catholic University, School of Medicine, Rome, Italy. antonio.oliva@rm.unicatt.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Oliva
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
authors.forename: Ernesto
authors.initials: E
authors.lastname: D'Aloja
authors.forename: Ilaria
authors.initials: I
authors.lastname: Boschi
authors.forename: Sara
authors.initials: S
authors.lastname: Partemi
authors.forename: Josep
authors.initials: J
authors.lastname: Brugada
authors.forename: Vincenzo L
authors.initials: VL
authors.lastname: Pascali
mesh_terms: D001344:Autopsy / Q000379:methods / Q000592:standards*; D001646:Bile / Q000737:chemistry; D001774:Blood Chemical Analysis; D001808:Blood Vessels / Q000473:pathology; D004252:DNA Mutational Analysis; D016757:Death, Sudden, Cardiac / Q000209:etiology* / Q000473:pathology; D005192:Family Health; D049429:Forensic Pathology / Q000592:standards*; D053593:Forensic Toxicology / Q000592:standards; D006197:Hair / Q000737:chemistry; D006331:Heart Diseases / Q000175:diagnosis; D006351:Heart Valves / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008487:Medical History Taking; D008854:Microscopy, Electron; D009206:Myocardium / Q000473:pathology; D009929:Organ Size; D017410:Practice Guidelines as Topic; D012333:RNA, Messenger / Q000378:metabolism; D012507:Sarcoidosis / Q000175:diagnosis; D013194:Staining and Labeling; D014556:Urine / Q000737:chemistry
chemical_list: D012333:RNA, Messenger