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DOI 10.1016/j.jacc.2020.12.072

Медицинская библиотека · Journal of the American College of Cardiology · 2021

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

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

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАОбзорПеревод пока не подготовлен

Аннотация

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.

Для цитирования: Fatkin Diane, Calkins Hugh, Elliott Perry, James Cynthia A, Peters Stacey, Kovacic Jason C. Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies: JACC Focus Seminar 3/5.. Journal of the American College of Cardiology. 2021. DOI: 10.1016/j.jacc.2020.12.072.

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