期刊文献+

一组有或无基因突变的特发性扩张型心肌病患者临床发病及预后的分析

Analysis of Clinical Onset and Prognosis in Patients with Idiopathic Dilated Cardiomyopathy with or without Gene Mutations
原文传递
导出
摘要 目的:分析携带基因突变和未携带基因突变的特发性扩张型心肌病(IDCM)患者的临床发病及预后的差异性。方法:收集2011年01月-2014年09月于南京鼓楼医院就诊的IDCM患者115例,经靶向二代测序鉴定后分为基因突变组和未突变组,出院后对两组患者进行定期随访,将两组患者的临床资料及随访结果进行统计学分析。结果:两组患者的一般临床特征(如性别比例、首发症状年龄、血压、糖尿病比例等)无显著差异(P>0.05);辅助检查特征(如左室射血分数、左室舒张末内径、室壁厚度、QRS-T夹角和血肌酐水平等)无显著差异(P>0.05);治疗情况(如药物和器械治疗)无差异(P>0.05);随访资料(如再入院和生存分析)亦无统计学差异(P>0.05,Log rank P=0.12);将性别比例、是否吸烟、是否合并糖尿病、是否植入器械、是否发生突变等临床参数进行Cox回归分析,发现上述参数未影响患者的临床预后(P>0.05)。结论:本组资料显示携带基因突变的IDCM患者临床发病及预后较未携带突变者无显著差异。 Objective: Analyze the difference of clinical onset and prognosis in patients with idiopathic dilated cardiomyopathy with or without gene mutations. Methods: A total of 115 IDCM patients were enrolled from January 2011 to September 2014. All patients were subjected to targeted next-generation sequencing to identify whether a pathological mutation existed. These IDCM patients were divided into 2 groups: the mutant group and non-mutant group. All patients were followed up with telephone contact. The clinical data and end points were compared. Results: Comparisons between these two groups showed no significant difference in baseline characteristics such as gender, age of symptom onset, blood pressure, and diabetes; assistant examination data such as left ventricular ejection fraction(LVEF), left ventricular diastolic diameters(LVDD), QRS-T angles and serum creatinine level; pharmacotherapy and device implantation; and prognosis including re-hospitalization and all-cause mortality. Factors, such as gender, smoking, diabetes, device implantation and mutation, were analyzed by the method of Cox Regression Analysis. It showed that these factors did not influence their prognosis.Conclusion: There is no significant difference in clinical data and end points between the two groups.
出处 《现代生物医学进展》 CAS 2016年第7期1262-1265,共4页 Progress in Modern Biomedicine
基金 国家自然科学基金项目(81270281 81200148)
关键词 特发性扩张型心肌病 基因突变 临床特征 预后 相关性 Idiopathic dilated cardiomyopathy Mutation Clinical characteristics Prognosis Association
  • 相关文献

参考文献20

  • 1Alexander PMA, Daubeney PEF, Nugent AW, et al. Long-term out- comes of dilated cardiomyopathy diagnosed during childhood: Re- suits from a national population-based study of childhood cardiomy- opathy[J]. Circulation, 2013, 128(18): 2039-2046.
  • 2Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture [J]. Nature Reviews Car- diology, 2013, 10(9): 531-547.
  • 3邓捷,韩雅玲,臧红云,梁明.P波离散度与扩张型心肌病的关系[J].医学研究生学报,2006,19(3):235-237. 被引量:2
  • 4Towbin JA, Bowles NE. The failing heart[J]. Nature, 2002, 415(6868)227-233.
  • 5Herman DS, Lam L, Taylor MR, et al. Truncations oftitin causing di- lated cardiomyopathy[J]. N Engl J Med, 2012, 366(7): 619-628.
  • 6Piran S, Liu P, Morales A, et al. Where genome meets phenome: Ra- tionale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure[J]. J Am Coil Cardiol, 2012, 60(4): 283-289.
  • 7张宇辉,王娟,张代富.扩张型心肌病的分子遗传学研究进展[J].心血管病学进展,2006,27(1):104-108. 被引量:1
  • 8Roura S, Bayes-Genis A. Vascular dysfunction in idiopathic dilated cardiomyopathy[J]. Nat Rev Cardiol, 2009, 6(9): 590-598.
  • 9van Rijsingen IA, Nannenberg EA, Arbustini E, et al. Gender-specific differences in major cardiac events and mortality in lamin A/C muta- tion carriers[J]. Eur J Heart Fail, 2013, 15(4): 376-384.
  • 10于丽平,史琳影,朱晓明,蔡军,杨新春,孟宪敏.扩张型心肌病蛋白质组学研究[J].中国循环杂志,2013,28(1):47-50. 被引量:4

二级参考文献54

  • 1贺永明,杨向军.白蛋白水平、左房内径和三尖瓣关闭不全预测心房颤动发生[J].中华心血管病杂志,2004,32(11):1028-1029. 被引量:4
  • 2马晶茹,高勇,李璐,徐旺达,金霞.P波离散度预测扩张型心肌病伴阵发性心房颤动的临床价值[J].临床心电学杂志,2004,13(4):256-258. 被引量:3
  • 3王志民,邹玉宝,宋雷,马爱群,刘唐威,谷惠敏,卢赛兰,武鹏翥,孙兆明,何国宝,张卫,张颖,沈丽,蔡玉岭,甄一松,刘延玲,惠汝太.超声心动图检查调查8080例成人肥厚型心肌病患病率[J].中华心血管病杂志,2004,32(12):1090-1094. 被引量:63
  • 4Amara ME,Villard E, Komajda M,et al. Genetics of fandlial dilated cardiomyopathy[J]. Ann Cardiol Angeiol(Paris) ,2005,54(3) :151-156.
  • 5Olson TM ,Illenberger S,Kishimoto NY ,et al. Metavlnculin mutations alter actin interaction in dilated cardiomyopathy[J]. Circulation, 2002,105 ( 4 ) :431-437.
  • 6Goldfarb LG,Park KY,Cervenakova L,et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy[J]. Nat Genet, 1998,19(4) :402-403.
  • 7Kamisago M ,Schmitt JP,Asahl M ,et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban[J]. Science, 2003,299 ( 5611 ) :1410-1413.
  • 8Daehmlow S, Erdmann J, Knueppel T, et al. Novel mutations in sarcomeric protein genes in dilated cardiomyopathy[J]. Biochem Biophys Res Commun,2002,298 :116-120.
  • 9Tsubata S,Bowles KR,Vatta M,et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy[J].J Clin Invest,2000,106:655-662.
  • 10Lu QW,Sachio M ,Keha H,et al. Cardiac troponin T mutation RI41W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca^2+ desensitization[J]. J Mol Cell Cardiol,2003,35(12) :1421-1427.

共引文献4

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部