Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family

Ruan Yan-ping; Lu Chao-xia; Zhao Xiao-yi; Liang Rui-juan; Lian Hui; Routledge Michael; Wu Wei; Zhang Xue; Fan Zhong-jie

Your Location：

Home >

Browse articles >

Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family

中国医学科学杂志（英文版） 2016年31卷第1期页码：1-7

Orginal Article | Updated：2024-04-10

- Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family
- Affiliations：
  
  1. 1Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
  2. 2McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China
  3. 3Leeds Institute of Cardiovascular & Metabolic Medicine, University of Leeds, Leeds LS2 9JZ, UK
- Author bio：
  
  *Corresponding author Zhong-jie Fan, Tel: 86-10-69155086, E-mail: fan@pumch.cn, Xue Zhang, E-mail: xuezhang@pumc.edu.cn
- Funds：
- DOI：
  中图分类号：
- 网络出版日期：2016-03-20，
  
  纸质出版日期：2016-03
- Accepted：
Scan QR Code
Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family[J]. 中国医学科学杂志（英文版）, 2016,31(1):1-7.

Ruan Yan-ping, Lu Chao-xia, Zhao Xiao-yi, et al. Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family[J]. Chinese medical sciences journal, 2016, 31(1): 1-7.
Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family[J]. 中国医学科学杂志（英文版）, 2016,31(1):1-7. DOI：

Ruan Yan-ping, Lu Chao-xia, Zhao Xiao-yi, et al. Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family[J]. Chinese medical sciences journal, 2016, 31(1): 1-7. DOI：

摘要

Abstract

关键词

Keywords

references

Willott RH , Gomes AV , Chang AN , et al . Mutations in troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function . J Mol Cell Cardiol 2010 ; 48 : 882 - 92 .

Kimberling MT , Balzer DT , Hirsch R , et al . Cardiac trans- plantation for pediatric restrictive cardiomyopathy: presen- tation, evaluation, and short-term outcome . J Heart Lung Transplant 2002 ; 21 : 455 - 9 .

Peddy SB , Vricella LA , Crosson JE , et al . Infantile rest- rictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene . Pediatrics 2006 ; 117 : 1830 - 3 .

Greenway SC , Wilson GJ , Wilson J , et al . Sudden death in an infant with angina, restrictive cardiomyopathy, and coronary artery bridging: an unusual phenotype for a beta-myosin heavy chain (MYH7) sarcomeric protein mutation . Circ Heart Fail 2012 ; 5 : e92 - 3 .

Rivenes SM , Kearney DL , Smith EO , et al . Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy . Circulation 2002 ; 102 : 876 - 82 .

Palka P , Lange A , Ward C . A fatal case of idiopathic restrictive cardiomyopathy . Cardiol Young 2003 ; 13 : 469 - 71 .

Jean-Charles PY , Li YJ , Nan CL , et al . Insights into restrictive cardiomyopathy from clinical and animal studies . J Geriatr Cardiol 2011 ; 8 : 168 - 83 .

Parvatiyar MS , Pinto JR , Dweck D , et al . Cardiac troponin mutations and restrictive cardiomyopathy . J Biomed Biotechnol 2010 ; 2010 : 350706 .

Peled Y , Gramlich M , Yoskovitz G , et al . Titin mutation in familial restrictive cardiomyopathy . Int J Cardiol 2014 ; 171 : 24 - 30 .

Kamisago M , Sharma SD , DePalma SR, et al. Mutations in sarcomere protein genes as a cause of dilated cardio- myopathy . N Engl J Med 2003 ; 343 : 1688 - 96 .

Chen J , Chien KR . Complexity in simplicity: monogenic disorders and complex cardiomyopathies . J Clin Invest 1999 ; 103 : 1483 - 5 .

Mogensen J , Kubo T , Dugue M , et al . Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations . J Clin Invest 2003 ; 111 : 209 - 16 .

Chen Y , Yang S , Li J , et al . Pediatric restrictive cardio- myopathy due to a heterozygous mutation of the TNNI3 gene . J Biomed Res 2014 ; 28 : 59 - 63 .

Yang SW , Chen Y , Li J , et al . Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy . Zhonghua Xin Xue Guan Bing Za Zhi 2013 ; 41 : 304 - 9 .

Mouton JM , Pellizzon AS , Goosen A , et al . Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo , in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy . Cardiovasc J Afr 2015 ; 26 : 63 - 9 .

Kaski JP , Syrris P , Burch M , et al . Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes . Heart 2008 ; 94 : 1478 - 84 .

Wu W , Lu CX , Wang YN , et al . Novel phenotype-genotype correlations of restrictive cardiomyopathy with myosin- binding protein C ( MYBPC3 ) gene mutations tested by next-generation sequencing. J Am Heart Assoc 2015 ; 4 . pii: e001879 .

Gomes AV , Liang J , Potter JD . Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development . J Biol Chem 2005 ; 280 : 30909 - 15 .

Yumoto F , Lu QW , Morimoto S , et al . Drastic Ca 2 + sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy . Biochem Biophys Res Commun 2005 ; 338 : 1519 - 26 .

Wen Y , Xu Y , Wang Y , et al . Functional effects of a restri- ctive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice . J Mol Biol 2009 ; 392 : 1158 - 67 .

Davey JW , Hohenlohe PA , Etter PD , et al . Genome-wide genetic marker discovery and genotyping using next- generation sequencing . Nat Rev Genet 2011 ; 12 : 499 - 510 .

Faita F , Vecoli C , Foffa I , et al . Next generation sequencing in cardiovascular diseases . World J Cardiol 2012 ; 4 : 288 - 95 .

浏览量

795

Downloads

CSCD

文章被引用时，请邮件提醒。

Submit

关联资源

暂无数据