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
  • [21] Albuminuria and Heart Failure JACC State-of-the-Art Review
    Khan, Muhammad Shahzeb
    Shahid, Izza
    Anker, Stefan D.
    Fonarow, Gregg C.
    Fudim, Marat
    Hall, Michael E.
    Hernandez, Adrian
    Morris, Alanna A.
    Shafi, Tariq
    Weir, Matthew R.
    Zannad, Faiez
    Bakris, George L.
    Butler, Javed
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2023, 81 (03) : 270 - 282
  • [22] Inflammation in Heart Failure JACC State-of-the-Art Review
    Murphy, Sean P.
    Kakkar, Rahul
    McCarthy, Cian P.
    Januzzi, James L.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2020, 75 (11) : 1324 - 1340
  • [23] Cardiovascular Aging and Longevity JACC State-of-the-Art Review
    Pietri, Panagiota
    Stefanadis, Christodoulos
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2021, 77 (02) : 189 - 204
  • [24] Medial Arterial Calcification JACC State-of-the-Art Review
    Lanzer, Peter
    Hannan, M. Fadil
    Lanzer, D. Jan
    Janzen, Jan
    Raggi, Paolo
    Furniss, Dominic
    Schuchardt, Mirjam
    Thakker, Rajesh
    Fok, Pak-Wing
    Saez-Rodriguez, Julio
    Millan, Angel
    Sato, Yu
    Ferraresi, Roberto
    Virmani, Renu
    St. Hilaire, Cynthia
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2021, 78 (11) : 1145 - 1165
  • [25] Carotid Artery Stenting JACC State-of-the-Art Review
    White, Christopher J.
    Brott, Thomas G.
    Gray, William A.
    Heck, Donald
    Jovin, Tudor
    Lyden, Sean P.
    Metzger, David Christopher
    Rosenfield, Kenneth
    Roubin, Gary
    Sachar, Ravish
    Siddiqui, Adnan
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2022, 80 (02) : 155 - 170
  • [26] Cardiac Tumors JACC CardioOncology State-of-the-Art Review
    Tyebally, Sara
    Chen, Daniel
    Bhattacharyya, Sanjeev
    Mughrabi, Abdallah
    Hussain, Zeeshan
    Manisty, Charlotte
    Westwood, Mark
    Ghosh, Arjun K.
    Guha, Avirup
    JACC: CARDIOONCOLOGY, 2020, 2 (02): : 293 - 311
  • [27] Leptin in Leanness and Obesity JACC State-of-the-Art Review
    Perakakis, Nikolaos
    Farr, Olivia M.
    Mantzoros, Christos S.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2021, 77 (06) : 745 - 760
  • [28] ATTR Amyloidosis: Current and Emerging Management Strategies JACC: CardioOncology State-of-the-Art Review
    Grif, Jan M.
    Rosenthal, Julie L.
    Grodin, Justin L.
    Maurer, Mathew S.
    Grogan, Martha
    Cheng, Richard K.
    JACC: CARDIOONCOLOGY, 2021, 3 (04): : 488 - 505
  • [29] Management of Atrial Fibrillation in Patients 75 Years and Older JACC State-of-the-Art Review
    Volgman, Annabelle Santos
    Nair, Gatha
    Lyubarova, Radmila
    Merchant, Faisal M.
    Mason, Pamela
    Curtis, Anne B.
    Wenger, Nanette K.
    Aggarwal, Neelum T.
    Kirkpatrick, James N.
    Benjamin, Emelia J.
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2022, 79 (02) : 166 - 179
  • [30] Management of Patients With Aortocoronary Saphenous Vein Graft Aneurysms JACC State-of-the-Art Review
    Vinciguerra, Mattia
    Spadaccio, Cristiano
    Tennyson, Charlene
    Karuppannan, Mukesh
    Bose, Amal
    Greco, Ernesto
    Rose, David
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2021, 77 (17) : 2236 - 2253