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Where Did My Libido Go? They must have the background and knowledge to understand the importance of establishing a diagnosis, including indications for molecular autopsy, and the awareness to recognize when the clinical study of the family is necessary for determining the cause of death and preventing future deaths. A genetic mutation identified in the deceased and thought to be causative allows for directed genetic testing in the surviving family members, decreasing the shotgun approach and its consequences, the identification of variants of unknown significance and possibly no significance related to the death and for the family.
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Molecular genetic testing can occur at the time of death or even years later if samples are properly collected and stored. Because research identifies more genes implicated in sudden death, we can apply this knowledge to the undiagnosed deceased and their living family. For this reason, appropriate sampling and storage are crucial in the anticipation of future technical progress in molecular biology and the overall understanding of the genetic origin of many diseases. Because of the heritability of these diseases, the potential implications for living relatives must be taken into consideration.
Advanced diagnostic analyses, genetic counseling, and interdisciplinary collaboration should be integral parts of clinical and forensic practice. Identifying the living relatives and making them understand the importance of their personal assessment for their own protection and their role in understanding the recent death are challenges at a challenging time for the family.
This task must become a standard part of the investigation of young people who have died suddenly. Provisional autopsy results must be communicated to the family early and referrals to the appropriate, preferably multidisciplinary clinic must proceed in a timely manner. We feel that the multidisciplinary approach best addresses the clinical and genetic investigation of inherited arrhythmias and the psychosocial consequences of a genetic diagnosis.
These conditions are most often inherited in an autosomal dominant manner and thus relatives of the deceased are at risk for the same demise. Although not morally comparable, a comparison can be made with another tragic sudden death, murder. We, society and taxpayers, spend a staggering amount of money investigating murders and preventing murderers from killing again. DeLisi et al 13 estimated that the cost of a murder exceeded 10 million dollars and the average offender imposed dollars in criminal justice system costs, investigation, legal defense, incarceration, and parole. Insuring the criminal will not murder again is in the best interest of society.
A study by the US Bureau of Justice Statistics tracking released inmates found that only 1. Another surprising fact uncovered by Mellor et al 1 in their investigation of the circumstances of death in their cohort was that in most cases, death occurred during rest or sleep. If this is universally applicable, our current focus on screening the athlete in attempts to decrease sudden death is shortsighted. Perhaps we should increase our focus on patients with epilepsy. In this study, 6.
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Everyone who cares for these patients can remember that a substantial number of patients with long-QT syndrome and catecholaminergic polymorphic ventricular tachycardia were misdiagnosed and treated for a seizure disorder, and even Brugada syndrome that can masquerade as a febrile seizure. Although it is potentially easy to identify patients with seizure disorders because they are on medications and because seizures are such dramatic events, it may be more difficult to uncover a previous benign faint. One must extend the question beyond sudden death to drowning, unusual accidents, sudden infant death syndrome, and fetal demise.
This is time consuming and perhaps not done best if left in the hands of a nonmedical coroner or an overtaxed medical examiner. The authors should be commended on having integrated a cardiogenetics team in their family assessment. This is interesting in light of the fact that death during sleep occurred in about one quarter of the entire cohort of sudden death victims. Independent of its cause, the death of a young individual is tragic for those left behind. When the death is sudden and unexplained, the grief is much more inconsolable. The role of all the involved medical practitioners should be revised to make this tragedy easier for families, to prevent additional deaths in surviving family members, and in the interest of public health.
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A thorough autopsy is essential and requires a standardized approach and possibly referral to a specialized center and must incorporate the molecular autopsy when applicable. In the United States, we need modern guidelines on postmortem genetic testing and transmission of the results to the family members for cases of SUD in the young. Appropriate handling of SUD requires a multidisciplinary collaboration, a skilled pathologist performing the autopsy, a clinical geneticist, and a medical team who evaluate the available clinical data from the deceased and their family and assess the risk of further sudden death.
We need this modern approach to cases of SUD in the young to prevent genetic killers from striking again. The opinions expressed in this article are not necessarily those of the editors or of the American Heart Association. Home Circulation: Arrhythmia and Electrophysiology Vol. View PDF. Tools Add to favorites Download citations Track citations Permissions. Jump to. Etheridge and MD Elizabeth V. Susan P.
Etheridge Susan P. Elizabeth V. Saarel Elizabeth V. Correspondence to Susan P. E-mail susan.
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References 1. Clinical characteristics and circumstances of death in the sudden arrhythmic death syndrome. Circ Arrhythm Electrophysiol. Link Google Scholar 2. Sudden unexplained death among persons 1—35 years old. Forensic Sci Int.
Crossref Medline Google Scholar 3. Sudden death in the young. Heart Rhythm. Crossref Medline Google Scholar 4. Sudden death in the young: a year review of autopsies in military recruits. Ann Intern Med. Crossref Medline Google Scholar 5.
United States Department of Justice. Death investigation: a guide for the scene investigator Accessed October 25, Google Scholar 6. Medical examiner and coroner systems: current and future needs.
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