肥厚型心肌病基因突变检测的临床与社会意义
被引量：2
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》
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.
引证文献2
-
1郭曦滢,樊朝美.右心室肥厚型心肌病的研究进展[J].中华心血管病杂志,2014,42(12):995-998. 被引量：2
-
2刘荟婷,王继纲,纪方方,高榆秀,付伟伟,赵鹏.散发性肥厚型心肌病MYH7基因突变位点筛查[J].青岛大学学报（医学版）,2019,55(3):330-334. 被引量：1
二级引证文献3
-
1张双双,王胜煌.右心室肥厚型心肌病合并反常冠状动脉栓塞一例[J].中华心血管病杂志,2017,45(3):243-245.
-
2闫丽荣,段福建,安硕研,杭霏,张宇辉,樊朝美,张健.重度右心室肥厚型心肌病的临床特点及预后研究[J].中国循环杂志,2018,33(9):879-883. 被引量：5
-
3张宇轩,朱华.MYH7基因表达在儿童肥厚型心肌病的研究进展[J].内蒙古医学杂志,2021,53(11):1334-1335.
-
1李靖,刘延玲,吕秀章,朱振辉,凌雁,王剑鹏,何青.肥厚型心肌病患者冠状动脉病变情况观察[J].中华心血管病杂志,2006,34(8):708-709. 被引量：3
-
2翟姗姗,樊朝美.基因检测在肥厚型心肌病诊断、治疗及预后评估的应用进展[J].中国循环杂志,2016,31(11):1136-1138. 被引量：4
-
3郭颖,黄晓红.肥厚型心肌病的生物标志物研究进展[J].中国分子心脏病学杂志,2016,16(5):1869-1872.
-
4夏思良,周建松,张小兵.以电风暴为初发表现无心肌梗死的冠心病一例[J].中华心律失常学杂志,2012,16(1):67-68.
-
5朱文根,王岑,洪葵.心源性猝死的遗传变异研究进展[J].临床心血管病杂志,2016,32(10):973-977. 被引量：3
-
6何旭.Brugada综合征1例[J].罕少疾病杂志,2002,9(4):39-40.
-
7王有国.警惕心梗后的“晚发猝死”[J].长寿,1996,0(4):24-24.
-
8张雪峰,石淑慧,王久亮.老年心原性猝死60例临床分析[J].实用老年医学,1999,13(1):45-46. 被引量：4
-
9曹克将.室性心律失常的机制探讨与临床研究[J].中华心血管病杂志,2013,41(6):535-536. 被引量：11
-
10王忠良.老年心原性猝死的临床与病理[J].实用老年医学,1997,11(2):80-82. 被引量：1
