Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation.
Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation.
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DOI：
10.1016/j.ahj.2009.10.019
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发表时间：
2010-01
影响因子：
4.8
通讯作者：
Luepker, Russell V.
中科院分区：
文献类型：
--
作者：
Adabag, A. Selcuk;Peterson, Garry;Apple, Fred S.;Titus, Jack;King, Richard;Luepker, Russell V.
识别有心源性猝死 (SCD) 风险的人具有挑战性。综合评估可以揭示 SCD 的临床、解剖、遗传和代谢危险因素的线索。 2001 年 8 月至 2004 年 7 月，亨内平县法医办公室对 71 名没有明显死亡原因的 SCD 受害者（25-60 岁）进行了评估。我们审查了他们的临床记录，进行了近亲访谈，并对与长 QT 综合征相关的基因突变进行了尸检、实验室检测和基因分析。平均年龄为 49.5±7 岁，86% 为男性，2 名受试者有冠心病 (CHD) 病史。与该社区同年龄组的个体相比，冠状动脉危险因素非常普遍（例如吸烟 61%；高血压 27%；高脂血症 25%），但治疗不足。尸检显示，80% 的受试者患有重度冠状动脉狭窄。急性冠状动脉病变和既往无症状心肌梗死 (MI) 的比例分别为 27% 和 34%。此外，32% 的受试者最近吸烟，50% 的受试者服用过镇痛药。在 5 名 (7%) 受试者中检测到离子通道基因可能存在有害突变。其中，4 个位于钠通道基因 SCN5A 中。社区中绝大多数的 SCD 受害者患有严重的亚临床冠心病，包括以前未被发现的心肌梗死。传统的冠状动脉危险因素普遍存在且治疗不足。在一些受试者中检测到长 QT 综合征基因突变。这些发现表明，需要改进社区亚临床先心病的检测和治疗，以预防心源性猝死。
Identifying persons at risk for sudden cardiac death (SCD) is challenging. A comprehensive evaluation may reveal clues about the clinical, anatomic, genetic and metabolic risk factors for SCD. Seventy-one SCD victims (25–60 years-old) without an initially apparent cause of death were evaluated at the Hennepin County Medical Examiner’s office from August, 2001 to July, 2004. We reviewed their clinic records conducted next-of-kin interviews and performed autopsy, laboratory testing and genetic analysis for mutations in genes associated with the long-QT syndrome. Mean age was 49.5±7 years, 86% were male and 2 subjects had history of coronary heart disease (CHD). Coronary risk factors were highly prevalent in comparison to individuals of the same age group in this community (e.g. smoking 61%; hypertension 27%; hyperlipidemia 25%) but inadequately treated. On autopsy, 80% of the subjects had high-grade coronary stenoses. Acute coronary lesions and previous silent myocardial infarction (MI) were found in 27% and 34%, respectively. Further, 32% of the subjects had recently smoked cigarettes and 50% had ingested analgesics. Possible deleterious mutations of the ion channel genes were detected in 5 (7%) subjects. Of these, 4 were in the sodium channel gene SCN5A. Overwhelming majority of the SCD victims in the community had severe subclinical CHD, including undetected previous MI. Traditional coronary risk factors were prevalent and under-treated. Mutations in the long-QT syndrome genes were detected in a few subjects. These findings imply that improvements in the detection and treatment of subclinical CHD in the community are needed to prevent SCD.
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影响因子：
37.8
作者：
FARB, A;TANG, AL;VIRMANI, R
通讯作者：
VIRMANI, R
影响因子：
24
作者：
Chugh, SS;Jui, J;McAnulty, J
通讯作者：
McAnulty, J
DOI：
10.1016/s0735-1097(03)00498-4
发表时间：
2003-07-02
影响因子：
24
作者：
Mitchell, LB;Powell, JL;Hallstrom, AP
通讯作者：
Hallstrom, AP
影响因子：
158.5
作者：
DAVIES, MJ;THOMAS, A
通讯作者：
THOMAS, A
影响因子：
6.1
作者：
Chase, Deborah;Roderick, Paul J.;Morgan, John M.
通讯作者：
Morgan, John M.