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.
From the *Institute of Forensic Medicine and Laboratory of Forensic Genetics, Catholic University, School of Medicine, Rome, Italy; †Cardiovascular Genetics Center, School of Medicine, University of Girona, Girona, Spain; ‡Institute of Forensic Medicine, Cagliari University, School of Medicine, Cagliari, Italy; and §Arrhythmia Unit, Cardiovascular Institute, Hospital Clinic, University of Barcelona, Spain.
Manuscript received November 15, 2008; accepted May 27, 2009.
A.O. and R.B. have contributed equally to this study.
Supported by Fondi di Ateneo Linea D1-2008, Università Cattolica del Sacro Cuore, Roma.
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Reprints: Antonio Oliva, MD, PhD, Research Scientist, Institute of Forensic Medicine, Catholic University, School of Medicine, Rome, Italy. E-mail: email@example.com.