Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies JACC Focus Seminar 3/5

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

卷:77

Article

Fatkin, Diane^1,2,3  Calkins, Hugh⁴  Elliott, Perry^5,6  James, Cynthia A.⁴  Peters, Stacey^7,8,9  Kovacic, Jason C.^1,2,3,10 

[1] Victor Chang Cardiac Res Inst, Lowy Packer Bldg,405 Liverpool St, Darlinghurst, NSW 2010, Australia

[2] UNSW Sydney, Fac Med, St Vincents Clin Sch, Kensington, NSW, Australia

[3] St Vincents Hosp, Cardiol Dept, Darlinghurst, NSW, Australia

[4] Johns Hopkins Sch Med, Div Cardiol, Baltimore, MD USA

[5] UCL, Inst Cardiovasc Sci, London, England

[6] St Bartholomews Hosp, Barts Heart Ctr, London, England

[7] Royal Melbourne Hosp, Dept Cardiol, Melbourne, Vic, Australia

[8] Royal Melbourne Hosp, Dept Genom Med, Melbourne, Vic, Australia

[9] Univ Melbourne, Dept Med, Melbourne, Vic, Australia

[10] Icahn Sch Med Mt Sinai, Zena & Michael A Wiener Cardiovasc Inst, New York, NY 10029 USA

关键词: arrhythmogenic right ventricular cardiomyopathy;    dilated cardiomyopathy;    hypertrophic cardiomyopathy;    precision medicine;   

DOI  :  10.1016/j.jacc.2020.12.072

来源: Elsevier

【 摘 要 】

Inherited cardiomyopathies are commonly occurring myocardial disorders that are associated with substantial morbidity and mortality. Clinical management strategies have focused on treatment of heart failure and arrhythmic complications in symptomatic patients according to standardized guidelines. Clinicians are now being urged to implement precision medicine, but what does this involve? Advances in understanding of the genetic underpinnings of inherited cardiomyopathies have brought new possibilities for interventions that are tailored to genes, specific variants, or downstream mechanisms. However, the phenotypic variability that can occur with any given pathogenic variant suggests that factors other than single driver gene mutations are often involved. This is propelling a new imperative to elucidate the nuanced ways in which individual combinations of genetic variation, comorbidities, and lifestyle may influence cardiomyopathy phenotypes. Here, Part 3 of a 5-part precision medicine Focus Seminar series reviews the current status and future opportunities for precision medicine in the inherited cardiomyopathies. (J Am Coll Cardiol 2021;77:2551-72) (c) 2021 by the American College of Cardiology Foundation.

【 授权许可】

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