Prediction of Pathogenicity of Plakophilin-2 Missense Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

被引:0
|
作者
Groeneweg, Judith A. [1 ,2 ]
Bhonsale, Aditya [3 ]
James, Cynthia A. [3 ]
van der Heijden, Jeroen F. [1 ]
Murray, Brittney [3 ]
Wilde, Arthur A. [4 ]
Tichnell, Crystal [3 ]
Jonabloed, Jan D. [5 ]
Tandri, Harikrishna [3 ]
van Tintelen, J. P. [5 ]
Judge, Daniel P. [3 ]
Hauer, Richard N. [1 ,2 ]
Calkins, Hugh [3 ]
Dooljes, Dennis [1 ]
机构
[1] Univ Med Cntr Utrecht, Utrecht, Netherlands
[2] Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands
[3] Johns Hopkins Univ, Sch Med, Baltimore, MD USA
[4] Acad Med Cntr Amsterdam, Amsterdam, Netherlands
[5] Univ Groningen, Univ Med Cntr Groningen, Groningen, Netherlands
关键词
Cardiomyopathy; Gene mutations; Ventricular arrhythmia; Fenofibrate;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
12832
引用
收藏
页数:2
相关论文
共 50 条
  • [21] Presence of plakophilin-2 mutation in arrhythmogenic right ventricular dysplasia cardiomyopathy is associated with worse left ventricular mechanics
    Liang, H. Y.
    Tops, L.
    Tandri, H.
    James, C.
    Tichnell, C.
    Bax, J.
    Judge, D.
    Calkins, H.
    Abraham, T.
    EUROPEAN HEART JOURNAL, 2013, 34 : 516 - 516
  • [22] High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia
    Hermida, Alexis
    Fressart, Veronique
    Hidden-Lucet, Francoise
    Donal, Erwan
    Probst, Vincent
    Deharo, Jean-Claude
    Chevalier, Philippe
    Klug, Didier
    Mansencal, Nicolas
    Delacretaz, Etienne
    Cosnay, Pierre
    Scanu, Patrice
    Extramiana, Fabrice
    Keller, Dagmar I.
    Rouanet, Stephanie
    Charron, Philippe
    Gandjbakhch, Estelle
    EUROPEAN JOURNAL OF HEART FAILURE, 2019, 21 (06) : 792 - 800
  • [23] Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients - Disease-Causing or Innocent Bystanders?
    Christensen, Alex Horby
    Benn, Marianne
    Tybjaerg-Hansen, Anne
    Haunso, Stig
    Svendsen, Jesper Hastrup
    CARDIOLOGY, 2010, 115 (02) : 148 - 154
  • [24] Plakophilin-2 Gene Could Be a Causative Factor in Arrhythmogenic Right Ventricular Cardiomyopathy
    Adachi, Susumu
    Isobe, Mitsuaki
    CIRCULATION JOURNAL, 2012, 76 (01) : 51 - 52
  • [25] Clinical and Genetic Characterization of Patients with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Caused by a Plakophilin-2 Splice Mutation
    van der Smagt, Jasper J.
    van der Zwaag, Paul A.
    van Tintelen, J. Peter
    Cox, Moniek G. P. J.
    Wilde, Arthur A. M.
    van Langen, Irene M.
    Ummels, Amber
    Hennekam, F. A. M.
    Dooijes, Dennis
    Gerbens, Frans
    Bikker, Hennie
    Hauer, Richard N. W.
    Doevendans, Pieter A.
    CARDIOLOGY, 2012, 123 (03) : 181 - 189
  • [26] Plakophilin-2 mutations as a cause of arrhythmogenic right ventricular cardiomyopathy: Progress toward Linking structural with functional changes
    Ram, Rashmi
    Van Wagoner, David R.
    HEART RHYTHM, 2008, 5 (12) : 1724 - 1725
  • [27] A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy
    Bozena Ostrowska Dahlgren
    Marie Allen
    Anne-Cristine Lindström
    Mia Bjerke
    Carina Blomström-Lundqvist
    Journal of Interventional Cardiac Electrophysiology, 2012, 34 : 11 - 18
  • [28] A novel variant in plakophilin-2 gene detected in a family with arrhythmogenic right ventricular cardiomyopathy
    Dahlgren, Bozena Ostrowska
    Allen, Marie
    Lindstrom, Anne-Cristine
    Bjerke, Mia
    Blomstrom-Lundqvist, Carina
    JOURNAL OF INTERVENTIONAL CARDIAC ELECTROPHYSIOLOGY, 2012, 34 (01) : 11 - 18
  • [29] Reduction in Right Ventricular Myocyte Contractility in a Plakophilin-2 Mouse Model of Arrhythmogenic Cardiomyopathy
    Camors, Emmanuel M.
    Sullivan, Ryan D.
    Purevjav, Enkhsaikhan
    Towbin, Jeffrey A.
    CIRCULATION, 2017, 136
  • [30] Recurrent and founder mutations in the Netherlands Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia
    van der Zwaag, P. A.
    Cox, M. G. P. J.
    van der Werf, C.
    Wiesfeld, A. C. P.
    Jongbloed, J. D. H.
    Dooijes, D.
    Bikker, H.
    Jongbloed, R.
    Suurmeijer, A. J. H.
    van den Berg, M. P.
    Hofstra, R. M. W.
    Hauer, R. N. W.
    Wilde, A. A. M.
    van Tintelen, J. P.
    NETHERLANDS HEART JOURNAL, 2010, 18 (12) : 583 - 591