Precision Medicine in the Management of Dilated Cardiomyopathy JACC State-of-the-Art Review

被引:63
|
作者
Fatkin, Diane [1 ,2 ,3 ]
Huttner, Inken G. [1 ,2 ]
Kovacic, Jason C. [4 ]
Seidman, J. G. [3 ,5 ,6 ]
Seidman, Christine E. [6 ,7 ]
机构
[1] Victor Chang Cardiac Res Inst, Mol Cardiol & Biophys Div, Darlinghurst, NSW, Australia
[2] UNSW Sydney, St Vincents Clin Sch, Fac Med, Kensington, NSW, Australia
[3] St Vincents Hosp, Cardiol Dept, Darlinghurst, NSW, Australia
[4] Icahn Sch Med Mt Sinai, Zena & Michael A Wiener Cardiovasc Inst, New York, NY 10029 USA
[5] Howard Hughes Med Inst, Boston, MA 02115 USA
[6] Harvard Med Sch, Dept Genet, Boston, MA 02115 USA
[7] Brigham & Womens Hosp, Div Cardiovasc, 75 Francis St, Boston, MA 02115 USA
基金
英国医学研究理事会; 美国国家卫生研究院;
关键词
dilated cardiomyopathy; functional genomics; genetics; precision medicine; PLURIPOTENT STEM-CELL; LAMIN A/C GENE; HEART-FAILURE; AMERICAN-COLLEGE; CARDIAC-DISEASE; TITIN MUTATIONS; SCN5A MUTATION; RARE VARIANTS; ASSOCIATION; CARVEDILOL;
D O I
10.1016/j.jacc.2019.10.011
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Precision medicine promises to dramatically improve patient outcomes and reduce health care costs through a shift in focus from disease treatment to prevention and individualized therapies. For families with inherited cardiomyopathies, efforts to date have been directed toward discovery and functional characterization of single disease-causing variants. With advances in sequencing, the cataloging of personal genetic variation has been expedited, providing improved insights into the key importance of the genes in which variants occur. These advances have propelled seminal opportunities for successful variant-targeted disease-reversing therapy. New challenges have also emerged-particularly interpretation of the rapidly rising numbers of "variants of unknown significance." For treatments based on patient genotype to be feasible on a wider scale, these obstacles need to be overcome. Here the authors focus on genetics of dilated cardiomyopathy and provide a roadmap for implementing genomic information into future patient management. (C) 2019 by the American College of Cardiology Foundation.
引用
收藏
页码:2921 / 2938
页数:18
相关论文
共 50 条
  • [11] Eisenmenger Syndrome JACC State-of-the-Art Review
    Arvanitaki, Alexandra
    Gatzoulis, Michael A.
    Opotowsky, Alexander R.
    Khairy, Paul
    Dimopoulos, Konstantinos
    Diller, Gerhard-Paul
    Giannakoulas, George
    Brida, Margarita
    Griselli, Massimo
    Gruenig, Ekkehard
    Montanaro, Claudia
    Alexander, Peter David
    Ameduri, Rebecca
    Mulder, Barbara J. M.
    D'Alto, Michele
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2022, 79 (12) : 1183 - 1198
  • [12] Primary Aldosteronism JACC State-of-the-Art Review
    Rossi, Gian Paolo
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2019, 74 (22) : 2799 - 2811
  • [13] Transcatheter Electrosurgery JACC State-of-the-Art Review
    Khan, Jaffar M.
    Rogers, Toby
    Greenbaum, Adam B.
    Babaliaros, Vasilis C.
    Yildirim, Dursun Korel
    Bruce, Christopher G.
    Herzka, Daniel A.
    Schenke, William H.
    Ratnayaka, Kanishka
    Lederman, Robert J.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2020, 75 (12) : 1455 - 1470
  • [14] Orthostatic Hypotension JACC State-of-the-Art Review
    Freeman, Roy
    Abuzinadah, Ahmad R.
    Gibbons, Christopher
    Jones, Pearl
    Miglis, Mitchell G.
    Sinn, Dong In
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2018, 72 (11) : 1294 - 1309
  • [15] Advanced Therapies for Ventricular Arrhythmias in Patients With Chagasic Cardiomyopathy JACC State-of-the-Art Review
    Romero, Jorge
    Velasco, Alejandro
    Pisani, Cristiano F.
    Alviz, Isabella
    Briceno, David
    Diaz, Juan Carlos
    Della Rocca, Domenico Giovanni
    Natale, Andrea
    Higuchi, Maria de Lourdes
    Scanavacca, Mauricio
    Di Biase, Luigi
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2021, 77 (09) : 1225 - 1242
  • [16] Precision Health Analytics With Predictive Analytics and Implementation Research JACC State-of-the-Art Review
    Pearson, Thomas A.
    Califf, Robert M.
    Roper, Rebecca
    Engelgau, Michael M.
    Khoury, Muin J.
    Alcantara, Carmela
    Blakely, Craig
    Boyce, Cheryl Anne
    Brown, Marishka
    Croxton, Thomas L.
    Fenton, Kathleen
    Parker, Melissa C. Green
    Hamilton, Andrew
    Helmchen, Lorens
    Hsu, Lucy L.
    Kent, David M.
    Kind, Amy
    Kravitz, John
    Papanicolaou, George John
    Prosperi, Mattia
    Quinn, Matt
    Price, LeShawndra N.
    Shireman, Paula K.
    Smith, Sharon M.
    Szczesniak, Rhonda
    Goff, David Calvin, Jr.
    Mensah, George A.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2020, 76 (03) : 306 - 320
  • [17] State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy
    Patel, Viraj
    Asatryan, Babken
    Siripanthong, Bhurint
    Munroe, Patricia B.
    Tiku-Owens, Anjali
    Lopes, Luis R.
    Khanji, Mohammed Y.
    Protonotarios, Alexandros
    Santangeli, Pasquale
    Muser, Daniele
    Marchlinski, Francis E.
    Brady, Peter A.
    Chahal, C. Anwar A.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (18) : 1 - 47
  • [18] Management of Patients With Severe Mitral Annular Calcification JACC State-of-the-Art Review
    Chehab, Omar
    Roberts-Thomson, Ross
    Bivona, Antonio
    Gill, Harminder
    Patterson, Tiffany
    Pursnani, Amit
    Grigoryan, Karine
    Vargas, Bernardo
    Bokhary, Ujala
    Blauth, Christopher
    Lucchese, Gianluca
    Bapat, Vinayak
    Guerrero, Mayra
    Redwood, Simon
    Prendergast, Bernard
    Rajani, Ronak
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2022, 80 (07) : 722 - 738
  • [19] Screening and Management of Depression in Patients With Cardiovascular Disease JACC State-of-the-Art Review
    Jha, Manish K.
    Qamar, Arman
    Vaduganathan, Muthiah
    Charney, Dennis S.
    Murrough, James W.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2019, 73 (14) : 1827 - 1845
  • [20] Consumer Wearable Health and Fitness Technology in Cardiovascular Medicine JACC State-of-the-Art Review
    Petek, Bradley J.
    Al-Alusi, Mostafa A.
    Moulson, Nathaniel
    Grant, Aubrey J.
    Besson, Cyril
    Guseh, J. Sawalla
    Wasfy, Meagan M.
    Gremeaux, Vincent
    Churchill, Timothy W.
    Baggish, Aaron L.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2023, 82 (03) : 245 - 264