The Achilles' Heel of Cardiovascular Genetic Testing: Distinguishing Pathogenic Mutations From Background Genetic Noise

被引：18

作者：

Landstrom, A. P. ^{[3
,4
]}

Ackerman, M. J. ^{[1
,2
,3
,4
]}

机构：

[1] Mayo Clin, Dept Med, Div Cardiovasc Dis, Rochester, MN 55905 USA

[2] Mayo Clin, Dept Pediat, Div Pediat Cardiol, Rochester, MN USA

[3] Mayo Clin, Dept Mol Pharmacol & Expt Therapeut, Rochester, MN USA

[4] Mayo Clin, Windland Smith Rice Sudden Death Genom Lab, Rochester, MN USA

来源：

CLINICAL PHARMACOLOGY & THERAPEUTICS | 2011年 / 90卷 / 04期

关键词：

RIGHT-VENTRICULAR CARDIOMYOPATHY/DYSPLASIA; HYPERTROPHIC CARDIOMYOPATHY; YIELD;

D O I：

10.1038/clpt.2011.192

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

Although the etiologies of sudden cardiac death (SCD) are diverse, genetic mutations associated with cardiomyopathic and channelopathic diseases are major causes, and clinically available genetic tests offer the potential to identify at-risk family members, contribute to risk stratification, and guide therapeutic intervention. Recently, the first large-scale systematic studies exploring the background genetic "noise" rate of these tests have been conducted and offer guidance in interpreting positive genetic test results.

引用

页码：496 / 499

页数：4

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