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Genetic testing for familial hypertrophic cardiomyopathy in newborn infants.

作者信息

Ryan M P, French J, al-Mahdawi S, Nihoyannopoulos P, Cleland J G, Oakley C M, Harper P S, Clarke A, Davis J, Grigg L

机构信息

Department of Clinical Cardiology, Royal Postgraduate Medical School, Hammersmith Hospital, London.

出版信息

BMJ. 1995 Apr 1;310(6983):856-9. doi: 10.1136/bmj.310.6983.856.

DOI:10.1136/bmj.310.6983.856
PMID:7677835
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2549225/
Abstract
摘要

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Genetic testing for familial hypertrophic cardiomyopathy in newborn infants.新生儿家族性肥厚型心肌病的基因检测
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2
Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. A positive screening test for an untreatable condition provides psychological relief from uncertainty.新生儿家族性肥厚型心肌病的基因检测。针对一种无法治疗的疾病进行的阳性筛查试验能缓解因不确定性带来的心理负担。
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Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. Hypertrophic cardiomyopathy can be treated but not cured.新生儿家族性肥厚型心肌病的基因检测。肥厚型心肌病可以治疗但无法治愈。
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Left ventricular hypertrophy is prevalent in Sprague-Dawley rats.左心室肥厚在斯普拉格-道利大鼠中很常见。
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Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience.肥厚型心肌病的家族筛查和遗传咨询：鹿特丹经验。
Neth Heart J. 2007 May;15(5):184-90. doi: 10.1007/BF03085978.
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Counselling issues in familial hypertrophic cardiomyopathy.家族性肥厚型心肌病的咨询问题
J Med Genet. 1998 Mar;35(3):183-8. doi: 10.1136/jmg.35.3.183.
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Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. A positive screening test for an untreatable condition provides psychological relief from uncertainty.新生儿家族性肥厚型心肌病的基因检测。针对一种无法治疗的疾病进行的阳性筛查试验能缓解因不确定性带来的心理负担。
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6
Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. Hypertrophic cardiomyopathy can be treated but not cured.新生儿家族性肥厚型心肌病的基因检测。肥厚型心肌病可以治疗但无法治愈。
BMJ. 1995 Jul 1;311(6996):58. doi: 10.1136/bmj.311.6996.58b.

本文引用的文献

1
Screening for hypertrophic cardiomyopathy.肥厚型心肌病的筛查
BMJ. 1993 Feb 13;306(6875):409-10. doi: 10.1136/bmj.306.6875.409.
2
Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.肥厚型心肌病家族中β-心肌肌球蛋白重链基因突变的鉴定。
Br Heart J. 1993 Feb;69(2):136-41. doi: 10.1136/hrt.69.2.136.
3
Arrhythmia and prognosis in infants, children and adolescents with hypertrophic cardiomyopathy.肥厚型心肌病婴幼儿、儿童及青少年的心律失常与预后
J Am Coll Cardiol. 1988 Jan;11(1):147-53. doi: 10.1016/0735-1097(88)90181-7.
4
Development and progression of left ventricular hypertrophy in children with hypertrophic cardiomyopathy.
N Engl J Med. 1986 Sep 4;315(10):610-4. doi: 10.1056/NEJM198609043151003.
5
Converting enzyme inhibition specifically prevents the development and induces regression of cardiac hypertrophy in rats.转化酶抑制作用可特异性地阻止大鼠心脏肥大的发展并诱导其消退。
Clin Exp Hypertens A. 1989;11(7):1325-50. doi: 10.3109/10641968909038172.
6
Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.通过血液淋巴细胞的基因分析对家族性肥厚型心肌病进行临床前诊断。
N Engl J Med. 1991 Dec 19;325(25):1753-60. doi: 10.1056/NEJM199112193252501.
7
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.肥厚型心肌病的临床表型差异与β-肌球蛋白重链基因的两种不同突变相关。一种是908Leu→Val突变，另一种是403Arg→Gln突变。
Circulation. 1992 Aug;86(2):345-52. doi: 10.1161/01.cir.86.2.345.
8
The risk of stroke in patients with acute myocardial infarction after thrombolytic and antithrombotic treatment. Gruppo Italiano per lo Studio della Sopravvivenza nell'Infarto Miocardico II (GISSI-2), and The International Study Group.急性心肌梗死后接受溶栓和抗栓治疗患者的卒中风险。意大利心肌梗死存活研究组II（GISSI-2）及国际研究组。
N Engl J Med. 1992 Jul 2;327(1):1-6. doi: 10.1056/NEJM199207023270101.
9
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.家族性肥厚型心肌病中肌球蛋白错义突变的特征及预后意义
N Engl J Med. 1992 Apr 23;326(17):1108-14. doi: 10.1056/NEJM199204233261703.