TY - JOUR
T1 - Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies
T2 - JACC Focus Seminar 3/5
AU - Fatkin, Diane
AU - Calkins, Hugh
AU - Elliott, Perry
AU - James, Cynthia A.
AU - Peters, Stacey
AU - Kovacic, Jason C.
N1 - Funding Information:
This work is supported by a grant from the Fondation Leducq (Dr. Calkins). The Johns Hopkins ARVD/C Program is supported by the Leonie-Wild Foundation, the Leyla Erkan Family Fund for ARVD Research, the Dr. Francis P. Chiramonte Private Foundation, the Dr. Satish, Rupal, and Robin Shah ARVD Fund at Johns Hopkins, the Bogle Foundation, the Healing Hearts Foundation, the Campanella family, the Patrick J. Harrison Family, the Peter French Memorial Foundation, the Wilmerding Endowments, and Boston Scientific. Dr. Fatkin has received support from the Victor Chang Cardiac Research Institute, New South Wales Health, Estate of the late RT Hall, Australian Genomics, NHMRC (1186500). Dr. Elliott has received consultancies and speaker fees from Pfizer, Sanofi Genzyme, and Myokardia; and has received an unrestricted educational grant from Pfizer. Dr. Peters is supported by a fellowship grant from Melbourne Health and a PhD Research Training Program scholarship from the University of Melbourne. Dr. Kovacic has received research support from the National Institutes of Health (R01HL130423, R01HL135093, R01HL148167-01A1) and New South Wales Health grant RG194194. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
Publisher Copyright:
© 2021 American College of Cardiology Foundation
PY - 2021/5/25
Y1 - 2021/5/25
N2 - 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.
AB - 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.
KW - arrhythmogenic right ventricular cardiomyopathy
KW - dilated cardiomyopathy
KW - hypertrophic cardiomyopathy
KW - precision medicine
UR - http://www.scopus.com/inward/record.url?scp=85105561012&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2020.12.072
DO - 10.1016/j.jacc.2020.12.072
M3 - Review article
C2 - 34016267
AN - SCOPUS:85105561012
SN - 0735-1097
VL - 77
SP - 2551
EP - 2572
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 20
ER -