Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper
Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper
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DOI：
10.1016/j.cjca.2010.12.078
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发表时间：
2011-03-01
影响因子：
6.2
通讯作者：
Woo, Anna
中科院分区：
文献类型：
--
作者：
Gollob, Michael H.;Blier, Louis;Woo, Anna
基因发现和分子医学时代对临床实践产生了重大影响。了解导致人类疾病或与人类疾病相关的特定基因发现可提高诊断准确性并影响治疗决策。在心血管疾病中，遗传性心律失常综合征的基因发现进展最为迅速。心律失常专家经常面临着诊断和管理遗传性心律失常综合征的挑战。现在显然需要制定关于适当使用基因检测与心源性猝死风险相关的最常见遗传疾病的指导方针。该文件是有史以来首次发表的建议，概述了基因检测在各种临床情况下的作用，需要考虑检测的特定基因，以及检测结果在患者及其家属管理中的效用。
The era of gene discovery and molecular medicine has had a significant impact on clinical practice. Knowledge of specific genetic findings causative for or associated with human disease may enhance diagnostic accuracy and Influence treatment decisions. In cardiovascular disease, gene discovery for inherited arrhythmia syndromes has advanced most rapidly. The arrhythmia specialist is often confronted with the challenge of diagnosing and managing genetic arrhythmia syndromes. There is now a clear need for guidelines on the appropriate use of genetic testing for the most common genetic conditions associated with a risk of sudden cardiac death. This document represents the first ever published recommendations outlining the role of genetic testing in various clinical scenarios, the specific genes to be considered for testing, and the utility of test results in the management of patients and their families.