Advances in the Genetics and Genomics of Heart Failure
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HEART FAILURE (HJ EISEN, SECTION EDITOR)
Advances in the Genetics and Genomics of Heart Failure Nosheen Reza 1
&
Anjali Tiku Owens 1
# Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose of Review The purpose of this review is to provide an update on the recent advances in the genetics and genomics of dilated cardiomyopathy and heart failure. Recent Findings Over the last decade, the approach to the discovery of the genetic contribution to heart failure has evolved from investigation of rare variants implicated in Mendelian cardiomyopathies through linkage studies and candidate gene studies to the exploration of the contribution of common variants through large-scale genome-wide association and genome-first studies. Summary The combination and integration of multiple of case-control heart failure cohorts, refinement of the heart failure phenotype, and utilization of large biobanks linked to electronic health records have advanced the understanding of the heritability of heart failure. Keywords Heart failure . Dilated cardiomyopathy . Genomics . Genetics . Pharmacogenomics
Introduction By the year 2030, an estimated 8 million adults and 3% of the total United States population will be living with heart failure (HF) [1, 2]. Although advances in evidence-based heart failure therapy contributed to a decline in HF-related deaths in the 1990s to 2000s, data from the last decade suggest that HFrelated mortality has increased and with differential death rates by sex and race/ethnicity [1, 3]. Despite the advances in pharmacological and mechanical therapies for HF, the risk of HF-related mortality remains unacceptably high with 50% of individuals dying within 5 years of a HF diagnosis [1, 4]. Thus far, HF has been considered a clinical diagnosis that encompasses a broad spectrum of structural heart diseases that present with similar symptoms, e.g., dyspnea, orthopnea, edema, and fatigue. Therapies for HF have been proven effective at the population-level through robust randomized clinical This article is part of the Topical Collection on Heart Failure * Nosheen Reza [email protected] Anjali Tiku Owens [email protected] 1
Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, 11 South Tower, Room 11-145 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA
trials; however, more recent studies have demonstrated that specific subgroups of patients with HF manifest disease and treatment responses in distinct ways. Separate from the environmental causes of HF, the study of genetic variation has been a newer approach to the discovery of the contribution of individual-level variation to HF risk and outcome. Early studies established the Mendelian inheritance of HF syndromes through linkage analyses of large kindreds with familial cardiomyopathies [5, 6]. Individual-level genetic variation in the form of rare exonic variants and structural chromoso
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