TY - JOUR
T1 - State of the art in forensic investigation of sudden cardiac death.
AU - Oliva, Antonio
AU - Brugada, Ramon
AU - D'Aloja, Ernesto
AU - Boschi, Ilaria
AU - Partemi, Sara
AU - Brugada, Josep
AU - Pascali, Vincenzo Lorenzo
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
KW - forensic autopsy
KW - genetics
KW - sudden death
KW - forensic autopsy
KW - genetics
KW - sudden death
UR - http://hdl.handle.net/10807/6754
U2 - 10.1097/PAF.0b013e3181c2dc96
DO - 10.1097/PAF.0b013e3181c2dc96
M3 - Article
SN - 0195-7910
VL - 32
SP - 1
EP - 16
JO - THE AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY
JF - THE AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY
ER -