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[预防心源性猝死的基因检测]

[Genetic testing to prevent sudden cardiac death].

作者信息

Stallmeyer B, Dittmann S, Schulze-Bahr E

机构信息

Institut für Genetik von Herzerkrankungen (IfGH), Universitätsklinikum Münster (UKM), Albert-Schweitzer-Campus 1, Gebäude D3, 48129, Münster, Deutschland.

出版信息

Internist (Berl). 2018 Aug;59(8):776-789. doi: 10.1007/s00108-018-0462-x.

Abstract

Successfully incorporating genetic testing into clinical practice to prevent sudden cardiac death (SCD) requires (1) appropriate recognition of an inherited cardiovascular condition, (2) identification of appropriate family members at risk and for genetic testing, (3) selection of the appropriate genetic test and information about the expected diagnostic yield, (4) understanding the complexity of result interpretation and distinct handling of incidental findings and (5) providing effective communication and medical advice regarding the genetic and medical results and implications to the patient and his family. Molecular autopsy in SCD victims will be of future importance to determine the cause of death. Interdisciplinary patient care should be provided in specialized centers with a high level of cardiogenetic expertise and is recommended to provide precise and individualized patient management.

摘要

要成功地将基因检测纳入临床实践以预防心源性猝死(SCD),需要:(1)正确识别遗传性心血管疾病;(2)确定适合进行基因检测的高危家庭成员;(3)选择合适的基因检测方法并了解预期的诊断率;(4)理解结果解读的复杂性以及对偶然发现的不同处理方式;(5)就基因和医学检测结果及其对患者及其家人的影响提供有效的沟通和医疗建议。对SCD受害者进行分子尸检对于确定死因具有未来意义。应在具有高水平心脏遗传学专业知识的专业中心提供跨学科的患者护理,建议进行精确和个性化的患者管理。

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