首页> 外文期刊>Cardiovascular pathology: the official journal of the Society for Cardiovascular Pathology >Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy
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Post-mortem genetic testing in a family with long-QT syndrome and hypertrophic cardiomyopathy

机译:患有长QT综合征和肥厚型心肌病的家庭的事后基因检测

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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. Post-mortem 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.
机译:小儿突然的无法解释的死亡是罕见的悲剧性事件,应使用医疗界可用的所有工具对其进行评估。基因检测的当前状态是一种极好的资源,可提高我们诊断可能导致心脏骤停的心血管疾病的能力。尸检后的基因检测通常不属于健康保险的承保范围,在尸体阴性的情况下可能不提供给家庭。这个不寻常的病例包括两个独立的心血管疾病,突出了基因检测的使用及其在诊断,筛查和风险分层中的作用。保险公司决定进行事后检验的决定既体现了同情心,也体现了对长期成本效益的理解。

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