Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy

被引:4
作者
Kane, David A. [1 ]
Triedman, John [2 ]
机构
[1] Univ Massachusetts, Sch Med, Dept Pediat Cardiol, Worcester, MA 01655 USA
[2] Harvard Univ, Sch Med, Boston Childrens Hosp, Boston, MA USA
关键词
Sudden cardiac arrest; Long QT syndrome; Hypertrophic cardiomyopathy; Post-mortem genetic testing; Familial cardiomyopathy screening; MOLECULAR AUTOPSY;
D O I
10.1016/j.carpath.2013.11.003
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Pediatric sudden unexplained deaths are rare and tragic events that should be evaluated with all the tools available to the medical community. The current state of genetic testing is an excellent resource that improves our ability to diagnose cardiovascular disorders that can lead to sudden cardiac arrest. Postmortem genetic testing is not typically a covered benefit of health insurance and may not be offered to families in the setting of a negative autopsy. This unusual case includes two separate cardiovascular disorders that highlight the use of genetic testing and its role in diagnosis, screening, and risk stratification. The insurance company's decision to cover post-mortem testing demonstrated both compassion as well as an understanding of the long-term cost effectiveness. (c) 2014 Elsevier Inc. All rights reserved.
引用
收藏
页码:107 / 109
页数:3
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