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肥厚型心肌病基因突变检测的临床与社会意义 被引量:2

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摘要 肥厚型心肌病(HCM)是最常见的遗传性心脏病,也是第一种明确致病基因的心脏病。该病由编码心肌肌小节蛋白及其相关蛋白基因突变引起,主要呈常染色体显性遗传,亦可呈常染色体隐性遗传[1],患病率约1:500[2],是青年人心原性猝死(sudden cardiac death,SCD)的首要原因。
出处 《中华心血管病杂志》 CAS CSCD 北大核心 2013年第8期716-718,共3页 Chinese Journal of Cardiology
基金 “重大新药创制”科技重大专项-《心血管创新药物临床研究技术平台建设》(2012zx09303JD08JD01) 国家l临床重点专科建设项目-《卫生部重点实验室项目》
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参考文献22

  • 1Olson TM, Karst ML, Whitby FG, et al. Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid- cavitary hypertrophy and restrictive physiology. Circulation,2002, 105:2337-2340.
  • 2Ramaraj R. Hypertrophic cardiomyopathy : etiology, diagnosis, and treatment. Cardiol Rev,2008,16 : 172-180.
  • 3Geisterfer-Lowrancc AA, Kass S, Tanigawa G, et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell, 1990,62 : 999- 1006.
  • 4American College of Cardiology Foundation/American Heart Association Task Force on Practice, American Association for Thoracic Surgery, American Society of Echocardiography, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association task force on practice guidelines. J Thorac Cardiovasc Surg,2011,142:e153- e203.
  • 5Garcia-Pavia P, V~izquez ME, Segovia J, et al. Genetic basis ofend-stage hypertrophic cardiomyopathy. Eur J Heart Fail,2011, 13 : 1193-1201.
  • 6Westermann D, Knollmann BC, Steendijk P, et al. Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. Eur J Heart Fail,2006,8 : 115-121.
  • 7Watkins H, Rosenzweig A, Itwang DS, et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med, 1992,326 : 1108- 1114.
  • 8Wordsworth S, Leal J, Blair E, et al. DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model. Eur Heart J,2010,31:926-935.
  • 9Zhu Hu J, Xiang Li J, Hong K, et al. Hypertrophic cardiomyopathy and planned in vitro fertilization. Genetic testing and clinical evaluation. Herz,2012,37:447-452.
  • 10Charron P, Arad M, Arbustini E, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on myocardial and pericardial diseases. Eur Heart J,2010,31:2715-2726.

同被引文献37

  • 1Maron MS, Hauser TH, Dubrow E, et al. Right ventricular involvement in hypertrophic cardiomyopathy [ J ]. Am J Cardiol, 2007, 100 : 1293-1298.
  • 2Comella A, Magnacea M, Gistri R, et al. Right ventricular involvement in hypertrophic eardiomyopathy. A case report and brief review of the literature [ J ]. Ital Heart J Suppl, 2004, 5 : 154-159.
  • 3Mozaffarian D, Caldwell JH. Right ventrieular involvement in hypertrophic cardiomyopathy: a case report and literature review [J]. Clin Cardiol, 2001, 24:2-8.
  • 4Shimizu M, Kawai H, Yokota Y, et al. Eehoeardiographic assessment of right ventrieular obstruction in hypertrophic cardiomyopathy[J]. Circ J, 2003, 67:855-860.
  • 5Katoh H, Murakami R, Shinmda T. Cine magnetic resonance imaging of isolated right ventricular outflow obstruction in hypertrophic cardiomyopathy [ J ]. Clin Radiol, 2001, 56 : 516- 519.
  • 6Mittal SR'. Isolated right ventricular hypertrophic obstructive cardiomyopathy[J]. J Assoc Physicians India, 2010, 58:249- 250.
  • 7Mittal SR, Jain S. Isolated right ventriculm" hypertrophic obstructive cardiomyopathy[J]. J Assoc Physicians India, 1998, 46:970-971.
  • 8McKenna WJ, Kleinebenne A, Nihoyannopoulos P, et al. Echocardiographic measurement of right ventricular wall thickness in hypertrophic cardiomyopathy: relation to clinical and prognostic features[J], J Am Coll Cardiol, 1988, 11:351-358.
  • 9Ishikawa T, Iwashima S, Ohzeki T. Effect of cibenzoline on biventricular pressure gradients in a pediatric patient with hypertrophic obstructive cardiomyopathy [ J ]. Pediatr Cardiol, 2010, 31:707-710.
  • 10Hiasa G, Hamada M, Shigematsu Y, et al. Attenuation of biventriculm" pressure gradients by cibenzo-line in an 18-year-old patient with hypertrophic obstructive cardiomyopathy [ J]. Circ J, 2002, 66 : 1173-1175.

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