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

Diane Fatkin, Inken G. Huttner, Jason C. Kovacic, J. G. Seidman, Christine E. Seidman

Research output: Contribution to journalReview articlepeer-review

53 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)2921-2938
Number of pages18
JournalJournal of the American College of Cardiology
Volume74
Issue number23
DOIs
Publication statusPublished - 10 Dec 2019
Externally publishedYes

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