Modifier genes for sudden cardiac death

European Heart Journal
Peter J SchwartzAlfred L George

Abstract

Genetic conditions, even those associated with identical gene mutations, can present with variable clinical manifestations. One widely accepted explanation for this phenomenon is the existence of genetic factors capable of modifying the consequences of disease-causing mutations (modifier genes). Here, we address the concepts and principles by which genetic factors may be involved in modifying risk for cardiac arrhythmia, then discuss the current knowledge and interpretation of their contribution to clinical heterogeneity. We illustrate these concepts in the context of two important clinical conditions associated with risk for sudden cardiac death including a monogenic disorder (congenital long QT syndrome) in which the impact of modifier genes has been established, and a complex trait (life-threatening arrhythmias in acute myocardial infarction) for which the search for genetic modifiers of arrhythmic risk is more challenging. Advances in understanding the contribution of modifier genes to a higher or lower propensity towards sudden death should improve patient-specific risk stratification and be a major step towards precision medicine.

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Citations

May 23, 2019·Arrhythmia & Electrophysiology Review·Luca SalaPeter J Schwartz
Apr 1, 2020·Cardiovascular Research·Lia CrottiMichael C Sanguinetti
Jun 23, 2020·PLoS Genetics·Brett M KronckeJeffrey D Blume
Jul 1, 2020·Open Biology·Diego VillarAndrew Tinker
Sep 17, 2020·Circulation. Genomic and Precision Medicine·Asami KashiwaWataru Shimizu
Jul 3, 2021·International Journal of Molecular Sciences·Cristina BallaPaola Imbrici

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