State of Postmortem Genetic Testing Known as the Cardiac Channel Molecular Autopsy in the Forensic Evaluation of Unexplained Sudden Cardiac Death in the Young

被引:44
作者
Ackerman, Michael J. [1 ,2 ]
机构
[1] Mayo Clin, Long QT Syndrome Clin, Rochester, MN 55905 USA
[2] Mayo Clin, Mayo Clin Windland Smith Rice Sudden Death, Genom Lab, Rochester, MN 55905 USA
来源
PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY | 2009年 / 32卷
关键词
channelopathies; genetic testing; ion channels; Long QT Syndrome; sudden death; LONG-QT SYNDROME; APPARENTLY NORMAL HEART; MUTATIONAL ANALYSIS; ARRHYTHMIA; MECHANISM; DIAGNOSIS; RELATIVES; CHILDREN; YIELD;
D O I
10.1111/j.1540-8159.2009.02393.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Methods: Review of the literature and analysis of the state of such postmortem genetic testing in the evaluation of SUD/SIDS. Results: Although still confined to anecdotal reports, relatively small case series of coroner/medical examiner-referred cases of SUD/SIDS, and one population-based cohort of SIDS, it is estimated that approximately 25-35% of autopsy-negative SUD and approximately 10% of SIDS may stem from mutations in either long QT syndrome (LQTS)- or catecholaminergic polymorphic ventricular tachycardia (CPVT)-susceptibility genes. Discussion: Whether the cardiac channel molecular autopsy should become the standard of care in the postmortem evaluation of autopsy negative SUD or SIDS will require further scrutiny. Cost effectiveness analyses of a more intense postmortem focus on the decedent compared to the current battery of tests recommended for the deceased SUD victim's first degree relatives should be performed. Conclusion: If deemed justified to upgrade such postmortem genetic testing from "investigational" to clinically indicated, uniform "standard operating procedures" to ensure that tissue is acquired and archived in a manner that is "DNA friendly" and insurance coverage that extends beyond one's final breath will be needed. (PACE 2009; 32:S86-S89).
引用
收藏
页码:S86 / S89
页数:4
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