Truncating Variants in Titin Independently Predict Early Arrhythmias in Patients With Dilated Cardiomyopathy

被引:53
|
作者
Tayal, Upasana [1 ]
Newsome, Simon [1 ]
Buchan, Rachel [1 ]
Whiffin, Nicola [1 ]
Walsh, Roddy [1 ]
Barton, Paul J. [1 ]
Ware, James S. [1 ]
Cook, Stuart A. [1 ]
Prasad, Sanjay K. [1 ]
机构
[1] Royal Brompton Hosp, Natl Heart & Lung Inst, Cardiovasc BRU, Sydney St, London SW3 6NP, England
基金
英国惠康基金; 英国医学研究理事会;
关键词
D O I
10.1016/j.jacc.2017.03.530
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:2466 / 2468
页数:4
相关论文
共 50 条
  • [31] Phenotypic expression and outcomes of cardiomyopathy caused by titin truncating variants: translational insights
    Perotto, M. Maria
    Radesich, C.
    Paldino, A.
    Dal Ferro, M.
    Sinagra, G.
    EUROPEAN JOURNAL OF HEART FAILURE, 2023, 25 : 362 - 363
  • [32] PHENOTYPIC EXPRESSION AND OUTCOMES OF CARDIOMYOPATHY CAUSED BY TITIN TRUNCATING VARIANTS: TRANSLATIONAL INSIGHTS
    Perotto, Maria
    Radesich, Cinzia
    Paldino, Alessia
    Dal Ferro, Matteo
    Sinagra, Gianfranco
    EUROPEAN HEART JOURNAL SUPPLEMENTS, 2022, 24
  • [33] Insights on Titin cardiomyopathy: from truncating variants site to phenotypic expression and outcomes
    Perotto, M.
    Radesich, C.
    Paldino, A.
    Merlo, M.
    Mestroni, L.
    Sinagra, G.
    Dal Ferro, M.
    EUROPEAN HEART JOURNAL, 2023, 44
  • [34] Discovery of TITIN Gene Truncating Variant Mutations and 5-Year Outcomes in Patients With Nonischemic Dilated Cardiomyopathy
    Anderson, Jeffrey L.
    Christensen, G. Bryce
    Escobar, Helaman
    Horne, Benjamin D.
    Knight, Stacey
    Jacobs, Victoria
    Afshar, Kia
    Hebl, Virginia B.
    Muhlestein, Joseph B.
    Knowlton, Kirk U.
    Carlquist, John F.
    Nadauld, Lincoln D.
    AMERICAN JOURNAL OF CARDIOLOGY, 2020, 137 : 97 - 102
  • [35] Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency
    Kim, Young-gon
    Ha, Changhee
    Shin, Sunghwan
    Park, Jong-ho
    Jang, Ja-Hyun
    Kim, Jong-Won
    FRONTIERS IN GENETICS, 2023, 13
  • [36] Survival analysis in arrhythmogenic/dilated cardiomyopathy caused by pathogenic DSP truncating variants
    Lamounier Junior, A.
    Alonso Garcia, D.
    Fernandez Ferro, G.
    Cardenas Reyes, I. J.
    Garcia, J. Salazar-Mendiguchia Y.
    Ochoa, J. P.
    Nicolas Cicerchia, M.
    Pena-Pena, M. L.
    Noel Brogger, M.
    Garcia Hernandez, S.
    Fernandez, X.
    Ortiz, M.
    Barriales-Villa, R.
    Iglesias Monserrat, L.
    EUROPEAN HEART JOURNAL, 2020, 41 : 2040 - 2040
  • [37] Non-segregation of truncating TTN variants in families with dilated cardiomyopathy (DCM)
    Fleming, A. G.
    Brett, L.
    Wilkinson, S.
    John, S.
    Briggs, L.
    Edwards, M.
    Morris-Rosendahl, D. J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 268 - 268
  • [38] Compound Heterozygous Truncating Variants in the BAG5 Gene As a Cause of Early-Onset Dilated Cardiomyopathy
    Inoue, Shunsuke
    Ko, Toshiyuki
    Nomura, Seitaro
    Yamada, Takanobu
    Zhang, Bo
    Dai, Zhehao
    Jimba, Takahiro
    Katoh, Manami
    Ishida, Junichi
    Amiya, Eisuke
    Hatano, Masaru
    Takeda, Norifumi
    Morita, Hiroyuki
    Ono, Minoru
    Komuro, Issei
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2023, 16 (06): : E004282
  • [39] Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene
    Akhtar, Mohammed Majid
    Lorenzini, Massimiliano
    Cicerchia, Marcos
    Ochoa, Juan Pablo
    Hey, Thomas Morris
    Sabater Molina, Maria
    Restrepo-Cordoba, Maria Alejandra
    Dal Ferro, Matteo
    Stolfo, Davide
    Johnson, Renee
    Larranaga-Moreira, Jose M.
    Robles-Mezcua, Ainhoa
    Rodriguez-Palomares, Jose F.
    Casas, Guillem
    Pena-Pena, Maria Luisa
    Lopes, Luis Rocha
    Gallego-Delgado, Maria
    Franaszczyk, Maria
    Laucey, Gemma
    Rangel-Sousa, Diego
    Basurte, Mayte
    Palomino-Doza, Julian
    Villacorta, Eduardo
    Bilinska, Zofia
    Limeres Freire, Javier
    Garcia Pinilla, Jose M.
    Barriales-Villa, Roberto
    Fatkin, Diane
    Sinagra, Gianfranco
    Garcia-Pavia, Pablo
    Gimeno, Juan R.
    Mogensen, Jens
    Monserrat, Lorenzo
    Elliott, Perry M.
    CIRCULATION-HEART FAILURE, 2020, 13 (10) : E006832
  • [40] DISCOVERY OF NOVEL TITIN (TTN) GENE TRUNCATING MUTATIONS AMONG A CONSECUTIVE COHORT OF PATIENTS PRESENTING WITH IDIOPATHIC DILATED CARDIOMYOPATHY (IDC)
    Anderson, Jeffrey L.
    Jacobs, Victoria
    Christensen, G. Bryce
    Escobar, Helaman
    Horne, Benjamin
    Knight, Stacey
    Afshar, Kia
    Hebl, Virginia B.
    Knowlton, Kirk
    Muhlestein, J.
    Carlquist, John
    Nadauld, Lincoln D.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2019, 73 (09) : 659 - 659