Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy

被引：260

作者：

Bos, J. Martijn ^{[1
]}

Towbin, Jeffrey A. ^{[8
]}

Ackerman, Michael J. ^{[1
,2
,3
,4
,5
,6
,7
]}

机构：

[1] Mayo Clin, Windland Smith Rice Sudden Death Genom Lab, Rochester, MN 55905 USA

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

[3] Mayo Clin, Dept Pediat, Div Cardiovasc Dis, Rochester, MN 55905 USA

[4] Mayo Clin, Dept Mol Pharmacol & Expt Therapeut, Div Cardiovasc Dis, Rochester, MN 55905 USA

[5] Mayo Clin, Dept Med, Div Pediat Cardiol, Rochester, MN 55905 USA

[6] Mayo Clin, Dept Pediat, Div Pediat Cardiol, Rochester, MN 55905 USA

[7] Mayo Clin, Dept Mol Pharmacol & Expt Therapeut, Div Pediat Cardiol, Rochester, MN 55905 USA

[8] Cincinnati Childrens Hosp, Med Ctr, Div Pediat Cardiol, Inst Heart, Cincinnati, OH USA

来源：

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY | 2009年 / 54卷 / 03期

关键词：

hypertrophic; cardiomyopathy; genomics; MYOSIN HEAVY-CHAIN; CARDIAC TROPONIN-T; LEFT-VENTRICULAR HYPERTROPHY; TRANSGENIC RABBIT MODEL; BINDING-PROTEIN-C; ANGIOTENSIN-ALDOSTERONE SYSTEM; MUSCLE LIM PROTEIN; DILATED CARDIOMYOPATHY; HEART-FAILURE; ALPHA-TROPOMYOSIN;

D O I：

10.1016/j.jacc.2009.02.075

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting approximately 1 in 500 individuals, HCM is the most common cause of sudden death in young athletes. In recent years, genomic medicine has been moving from the bench to the bedside throughout all medical disciplines including cardiology. Now, genomic medicine has entered clinical practice as it pertains to the evaluation and management of patients with HCM. The continuous research and discoveries of new HCM susceptibility genes, the growing amount of data from genotype-phenotype correlation studies, and the introduction of commercially available genetic tests for HCM make it essential that the modern-day cardiologist understand the diagnostic, prognostic, and therapeutic implications of HCM genetic testing. (J Am Coll Cardiol 2009; 54: 201-11) (C) 2009 by the American College of Cardiology Foundation

引用

页码：201 / 211

页数：11

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