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首页> 外文期刊>Translational research: the journal of laboratory and clinical medicine >The role of genetic testing in unexplained sudden death
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The role of genetic testing in unexplained sudden death

机译：基因测试在无法解释的猝死中的作用

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Most sudden deaths are because of a cardiac etiology and are termed sudden cardiac death (SCD). In younger individuals coronary artery disease is less prevalent and cardiac genetic disorders are more common. If sudden death is unexplained despite an appropriate autopsy and toxicologic assessment the term sudden arrhythmic death syndrome (SADS) may be used. This is an umbrella term and common underlying etiologies are primary arrhythmia syndromes with a familial basis such as Brugada syndrome, long QT syndrome, and subtle forms of cardiomyopathy. The first clinical presentation of these conditions is often SCD, which makes identification, screening, and risk stratification crucial to avert further deaths. This review will focus on genetic testing in the context of family screening. It will address the role of the "molecular autopsy" alongside current postmortem practices in the evaluation of SADS deaths. We describe the current data underlying genetic testing in these conditions, explore the potential for next-generation sequencing, and discuss the inherent diagnostic problems in determination of pathogenicity.
机译：大多数猝死是由于心脏病因引起的，被称为猝死。在较年轻的人群中，冠状动脉疾病的发病率较低，而心脏遗传疾病更为常见。如果尽管经过适当的尸检和毒理学评估仍无法解释突然死亡，则可以使用术语“心律失常死亡综合症”（SADS）。这是一个概括性术语，常见的潜在病因是具有家族性的原发性心律不齐综合征，例如Br​​ugada综合征，QT长时间综合征和微妙的心肌病。这些疾病的首例临床表现通常是SCD，这使得鉴定，筛查和风险分层对于避免进一步的死亡至关重要。这项审查将侧重于家庭筛查背景下的基因检测。它将探讨“分子尸检”与当前验尸实践一起在SADS死亡评估中的作用。我们描述了在这些条件下进行基因测试的最新数据，探讨了下一代测序的潜力，并讨论了确定致病性的内在诊断问题。

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