Rutberg Julie, Green Martin S, Gow Robert M, Geraghty Michael T, Honeywell Christina, Ewen John, Birnie David H, Tang Anthony, Lemery Robert, Gollob Michael H
University of Ottawa Heart Institute, Ottawa, Canada.
Can J Cardiol. 2007 Sep;23(11):904-6. doi: 10.1016/s0828-282x(07)70849-8.
Standard autopsy of young victims with sudden cardiac death commonly does not identify a specific pathological diagnosis. In such cases, sudden cardiac death may be secondary to a genetic condition predisposing the patient to ventricular arrhythmias. Failure to identify a genetic etiology for an unexpected sudden death may leave surviving family members at risk for a similar tragedy. The case of a 21-year-old woman who died suddenly while at rest is presented. Molecular genetic analysis of tissue retrieved from the regional coroner's office identified a novel missense mutation in the KCNH2 gene, a gene known to cause the long QT syndrome.
对年轻心脏性猝死受害者进行的标准尸检通常无法确定具体的病理诊断。在这种情况下，心脏性猝死可能继发于使患者易患室性心律失常的遗传疾病。未能确定意外猝死的遗传病因可能会使幸存的家庭成员面临类似悲剧的风险。本文介绍了一名21岁女性在休息时突然死亡的病例。对从地区验尸官办公室获取的组织进行的分子遗传学分析在KCNH2基因中发现了一种新的错义突变，该基因已知会导致长QT综合征。
