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遗传性心律失常导致的年轻人心脏骤停:家庭护理的重要性。

Sudden cardiac arrest in the young due to inherited arrhythmias: the importance of family care.

作者信息

Vincent G Michael

机构信息

Genetic Cardiac Arrhythmia Program, Intermountain LDS Hospital, University of Utah, Salt Lake City, Utah, USA.

出版信息

Pacing Clin Electrophysiol. 2009 Jul;32 Suppl 2:S19-22. doi: 10.1111/j.1540-8159.2009.02395.x.

Abstract

BACKGROUND

Sudden cardiac arrest in the young is always an extremely tragic event, producing enormous stress and anxiety in the family. When the event is due to an inherited cardiac arrhythmia, the additional concerns and questions about who else is affected and who will die next can become overwhelming to both the nuclear and the extended family. Identification and screening of the family members are necessary in order to find and treat presymptomatic members and prevent sudden death.

METHODS

Guidelines and strategies for care of the extended family are presented.

RESULTS

Pedigree development and expansion, followed by prospective contacting of family members and screening by phenotyping and genotyping, allow recognition and treatment of many mutation carriers who would not otherwise come to medical attention unless they develop a serious cardiac event. Presymptomatic treatment of affected members is highly efficacious and prevents sudden deaths.

CONCLUSIONS

Sudden cardiac arrest due to inherited arrhythmia disorders can be prevented by prospective, structured evaluation of the extended family, allowing effective, presymptomatic, and prophylactic treatment of the affected members to be provided.

摘要

背景

年轻人心脏骤停始终是极其悲惨的事件,会给家庭带来巨大压力和焦虑。当该事件由遗传性心律失常所致时,关于其他哪些人会受到影响以及下一个会是谁死亡的额外担忧和疑问,可能会让核心家庭和大家庭都不堪重负。为了找到并治疗无症状家庭成员并预防猝死,对家庭成员进行识别和筛查很有必要。

方法

介绍了针对大家庭的护理指南和策略。

结果

绘制并扩展家系图谱,随后对家庭成员进行前瞻性联系,并通过表型分析和基因分型进行筛查,能够识别和治疗许多突变携带者,否则这些人除非发生严重心脏事件,否则不会就医。对受影响成员进行无症状治疗非常有效,可预防猝死。

结论

通过对大家庭进行前瞻性、结构化评估,可以预防由遗传性心律失常疾病导致的心脏骤停,从而能够为受影响成员提供有效、无症状和预防性治疗。

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