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

Diane Fatkin, Hugh Calkins, Perry Elliott, Cynthia A. James, Stacey Peters, Jason C. Kovacic

Research output: Contribution to journalReview articlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)2551-2572
Number of pages22
JournalJournal of the American College of Cardiology
Volume77
Issue number20
DOIs
StatePublished - May 25 2021

Keywords

  • arrhythmogenic right ventricular cardiomyopathy
  • dilated cardiomyopathy
  • hypertrophic cardiomyopathy
  • precision medicine

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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