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心血管疾病的分子诊断在不明原因猝死中的应用。

Molecular diagnostics of cardiovascular diseases in sudden unexplained death.

机构信息

Molecular Genetics Laboratory, New York City Office of Chief Medical Examiner, NY, NY 10016.

出版信息

Cardiovasc Pathol. 2014 Jan-Feb;23(1):1-4. doi: 10.1016/j.carpath.2013.09.002. Epub 2013 Oct 22.

Abstract

The most challenging type of sudden cardiac death is sudden unexplained death. The etiologies for sudden unexplained death are diverse and not necessarily confined to the cardiovascular system. Nevertheless, certain cardiovascular diseases, particularly cardiac channelopathies and cardiomyopathies, are known to play significant roles in sudden deaths. The purpose of the review is to provide autopsy pathologists with an actionable guide through illuminating the clinically relevant molecular basis of cardiac channelopathies and cardiomyopathies, as well as the changing landscape of molecular diagnostics.

摘要

最具挑战性的心脏性猝死类型是原因不明的猝死。导致猝死的病因多种多样,不一定局限于心血管系统。然而,某些心血管疾病,特别是心脏通道病和心肌病,已知在猝死中起着重要作用。本综述的目的是通过阐明心脏通道病和心肌病的临床相关分子基础,以及分子诊断的变化格局,为尸检病理学家提供一份实用指南。

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