Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease
Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease
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DOI：
10.1016/j.amjcard.2019.02.061
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发表时间：
2019-06-15
影响因子：
2.8
通讯作者：
Medeiros-Domingo, Argelia
中科院分区：
文献类型：
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作者：
Asatryan, Babken;Schaller, Andre;Medeiros-Domingo, Argelia
基因检测在心脏骤停（SCA）幸存者中具有可疑的心脏表型被认为是临床有用的，而其在没有表型的情况下的价值是有争议的。我们的目的是评估基因检测在有或没有心脏表型的SCA幸存者中的临床应用。60名无冠状动脉疾病的无血缘关系的SCA幸存者（中位年龄：34岁[四分位数范围20 - 43岁]，82%为男性）被纳入研究：24名（40%）在SCA事件后可检测到心脏表型（Ph(+)SCA）， 36名（60%）无明确心脏表型（Ph(-)SCA）。使用TruSight-One测序板（Illumina）进行靶向外显子组测序。185个临床相关心脏基因等位基因频率较小的变异
Genetic testing in survivors of sudden cardiac arrest (SCA) with a suspicious cardiac phenotype is considered clinically useful, whereas its value in the absence of phenotype is disputed. We aimed to evaluate the clinical utility of genetic testing in survivors of SCA with or without cardiac phenotype. Sixty unrelated SCA survivors (median age: 34 [interquartile range 20 to 43] years, 82% male) without coronary artery disease were included: 24 (40%) with detectable cardiac phenotype (Ph(+)SCA) after the SCA event and 36 (60%) with no clear cardiac phenotype (Ph(-)SCA). The targeted exome sequencing was performed using the TruSight-One Sequencing Panel (Illumina). Variants in 185 clinically relevant cardiac genes with minor allele frequency