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[不明原因猝死的遗传学]

[Genetics of sudden unexplained death].

作者信息

Campuzano Oscar, Allegue Catarina, Brugada Ramon

机构信息

Centro de Genética Cardiovascular, IdIBGi-Universitat de Girona, Girona, España.

Centro de Genética Cardiovascular, IdIBGi-Universitat de Girona, Girona, España.

出版信息

Med Clin (Barc). 2014 Mar 20;142(6):265-9. doi: 10.1016/j.medcli.2013.06.015. Epub 2013 Sep 7.

Abstract

Sudden unexplained death is defined by death without a conclusive diagnosis after autopsy and it is responsible for a large percentage of sudden deaths. The progressive interaction between genetics and forensics in post-mortem studies has identified inheritable alterations responsible for pathologies associated with arrhythmic sudden death. The genetic diagnosis of the deceased enables the undertaking of preventive measures in family members, many of them asymptomatic but at risk. The implications of this multidisciplinary translational medical approach are complex, requiring the dedication of a specialized team.

摘要

不明原因猝死的定义是尸检后仍无确切诊断的死亡,它占猝死病例的很大比例。在死后研究中,遗传学与法医学之间的逐步相互作用已确定了与心律失常性猝死相关的病理学的可遗传改变。对死者进行基因诊断能够对其家庭成员采取预防措施,其中许多人没有症状但处于风险之中。这种多学科转化医学方法的影响很复杂,需要一个专业团队全身心投入。

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