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

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

卷:74

Review

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 

[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

关键词: dilated cardiomyopathy;    functional genomics;    genetics;    precision medicine;   

DOI  :  10.1016/j.jacc.2019.10.011

来源: Elsevier

【 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.

【 授权许可】

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