Genetics of sudden cardiac death

被引:19
作者
Barsheshet A. [1 ]
Brenyo A. [1 ]
Moss A.J. [1 ]
Goldenberg I. [1 ]
机构
[1] Heart Research Follow-up Program, University of Rochester Medical Center, Box 653, Rochester
关键词
Aborted cardiac arrest; Arrhythmia; ARVC/D; Brugada syndrome; Catecholaminergic polymorphic ventricular tachycardia; CPVT; Diagnosis; Dilated cardiomyopathy; Genes; Genetic testing; Genetics; Hypertrophic cardiomyopathy; Long QT syndrome; LQTS; Prognosis; Risk assessment; SCD; Short QT syndrome; Sudden cardiac death;
D O I
10.1007/s11886-011-0209-y
中图分类号
学科分类号
摘要
Advances in genetic testing technology have led to a proliferation of new genetic tests and accelerated developments in the field of cardiovascular genetic medicine. These advances enhance presymptomatic diagnosis and can establish a definitive molecular diagnosis for symptomatic patients at risk for sudden cardiac death. Most importantly, genotype-phenotype correlations can add important information for predicting outcome and selecting treatment for patients with inherited arrhythmic disorders. This paper reviews the current data regarding genotype-phenotype correlations and the role of clinical genetic testing in diagnosis, prognosis, and management of inheritable disorders leading to sudden cardiac death. © 2011 Springer Science+Business Media, LLC.
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页码:364 / 376
页数:12
相关论文
共 93 条
[1]  
Hershberger R.E., Lindenfeld J., Mestroni L., Et al., Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline, J Card Fail., 15, pp. 83-97, (2009)
[2]  
Roden D.M., Cardiovascular Genetics and Genomics, (2009)
[3]  
Ho C.Y., Genetics and clinical destiny: Improving care in hypertrophic cardiomyopathy, Circulation., 122, pp. 2430-40, (2010)
[4]  
Wang L., Seidman J.G., Seidman C.E., Narrative review: Harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy, Ann Intern Med., 152, pp. 513-20, (2010)
[5]  
Olivotto I., Girolami F., Ackerman M.J., Nistri S., Bos J.M., Zachara E., Ommen S.R., Theis J.L., Vaubel R.A., Re F., Armentano C., Poggesi C., Torricelli F., Cecchi F., Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy, Mayo Clinic Proceedings, 83, 6, pp. 630-638, (2008)
[6]  
Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., Seidman C.E., Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly, Circulation, 105, 4, pp. 446-451, (2002)
[7]  
Van Driest S.L., Vasile V.C., Ommen S.R., Will M.L., Tajik A.J., Gersh B.J., Ackerman M.J., Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy, Journal of the American College of Cardiology, 44, 9, pp. 1903-1910, (2004)
[8]  
Ingles J., Doolan A., Chiu C., Et al., Compound and double mutations in patients with hypertrophic cardiomyopathy: Implications for genetic testing and counselling, J Med Genet., 42, (2005)
[9]  
Hershberger R.E., Morales A., Siegfried J.D., Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals, Genet Med., 12, pp. 655-67, (2010)
[10]  
Marcus F.I., McKenna W.J., Sherrill D., Et al., Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed modification of the task force criteria, Eur Heart J., 31, pp. 806-14, (2010)