A Prospective Study of Sudden Cardiac Death among Children and Young Adults
A Prospective Study of Sudden Cardiac Death among Children and Young Adults
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DOI：
10.1056/nejmoa1510687
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发表时间：
2016-06-23
影响因子：
158.5
通讯作者：
Semsarian, C.
中科院分区：
文献类型：
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作者：
Bagnall, R. D.;Weintraub, R. G.;Semsarian, C.
儿童和年轻人的心源性猝死是一种毁灭性事件。我们进行了一项前瞻性的，以人群为基础的，临床和遗传研究的心脏性猝死儿童和年轻adult.METHODSWe前瞻性地收集了临床，人口统计学和尸检信息的所有情况下的心脏性猝死儿童和年轻的成年人1至35岁，在澳大利亚和新西兰从2010年至2012年。在包括毒理学和组织学研究在内的全面尸检后无法确定原因的病例中（不明原因的心源性猝死），至少分析了59个心脏基因的临床相关心脏基因突变。1至35岁的年发病率为每100 000人1.3例; 72%的病例涉及男孩或年轻男子。31至35岁人群的心源性猝死发生率最高（每年每100 000人中有3.2例），16至20岁人群的不明原因心源性猝死发生率最高（每年每100 000人中有0.8例）。心脏性猝死最常见的原因是冠状动脉疾病（24%的病例）和遗传性心肌病（16%的病例）。不明原因的心脏性猝死（40%的病例）是所有年龄组人群的主要发现，除了31至35岁的人群，冠状动脉疾病是最常见的发现。与可解释的心源性猝死相比，年轻和夜间死亡与原因不明的心源性猝死独立相关。在进行基因检测的113例不明原因的心脏性猝死中，有31例（27%）发现了临床相关的心脏基因突变。在后续行动中，遗传性心血管疾病的临床诊断确定在13%的家庭中，原因不明的心源性猝死occurred.CONCLUSIONSThe除了基因检测的尸检调查大大增加了儿童和年轻人的心源性猝死的可能原因的识别。
BACKGROUNDSudden cardiac death among children and young adults is a devastating event. We performed a prospective, population-based, clinical and genetic study of sudden cardiac death among children and young adults.METHODSWe prospectively collected clinical, demographic, and autopsy information on all cases of sudden cardiac death among children and young adults 1 to 35 years of age in Australia and New Zealand from 2010 through 2012. In cases that had no cause identified after a comprehensive autopsy that included toxicologic and histologic studies (unexplained sudden cardiac death), at least 59 cardiac genes were analyzed for a clinically relevant cardiac gene mutation.RESULTSA total of 490 cases of sudden cardiac death were identified. The annual incidence was 1.3 cases per 100,000 persons 1 to 35 years of age; 72% of the cases involved boys or young men. Persons 31 to 35 years of age had the highest incidence of sudden cardiac death (3.2 cases per 100,000 persons per year), and persons 16 to 20 years of age had the highest incidence of unexplained sudden cardiac death (0.8 cases per 100,000 persons per year). The most common explained causes of sudden cardiac death were coronary artery disease (24% of cases) and inherited cardiomyopathies (16% of cases). Unexplained sudden cardiac death (40% of cases) was the predominant finding among persons in all age groups, except for those 31 to 35 years of age, for whom coronary artery disease was the most common finding. Younger age and death at night were independently associated with unexplained sudden cardiac death as compared with explained sudden cardiac death. A clinically relevant cardiac gene mutation was identified in 31 of 113 cases (27%) of unexplained sudden cardiac death in which genetic testing was performed. During follow-up, a clinical diagnosis of an inherited cardiovascular disease was identified in 13% of the families in which an unexplained sudden cardiac death occurred.CONCLUSIONSThe addition of genetic testing to autopsy investigation substantially increased the identification of a possible cause of sudden cardiac death among children and young adults.