Cited by 168Cardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmiasCardiovascular Effects of Exercise

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Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies

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Yotti, Raquel, Seidman, Christine E., Seidman, Jonathan G.·2019·Annual Review of Genomics and Human Genetics

DOI 10.1146/annurev-genom-083118-015306

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Abstract

Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. HCM is characterized by unexplained cardiac hypertrophy (increased chamber wall thickness) that is accompanied by enhanced cardiac contractility and impaired relaxation. DCM is defined as increased ventricular chamber volume with contractile impairment. In this review, we discuss recent analyses that provide new insights into the molecular mechanisms that cause these conditions. HCM studies have uncovered the critical importance of conformational changes that occur during relaxation and enable energy conservation, which are frequently disturbed by HCM mutations. DCM studies have demonstrated the considerable prevalence of truncating variants in titin and have discerned that these variants reduce contractile function by impairing sarcomerogenesis. These new pathophysiologic mechanisms open exciting opportunities to identify new pharmacological targets and develop future cardioprotective strategies.

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Authors: Yotti, R., Seidman, C. E., & Seidman, J. G.
Affiliations: Instituto de Salud Carlos III (ES)
Brigham and Women's Hospital (US)
Harvard University (US)
ORCID: Yotti, Raquel
Seidman, Christine E.
Seidman, Jonathan G.
Venue: Annual Review of Genomics and Human Genetics
Publisher: Annual Reviews
Published: 2019-08-31
Volume: 20
Issue: 1
Pages: 129-153
ISSN: 1527-8204 (ISSN-L)
1545-293X
DOI: 10.1146/annurev-genom-083118-015306
OpenAlex: W2936587264
Cited by: 168
References: 154
Citations by year: 2026: 10 · 2025: 17 · 2024: 35 · 2023: 27 · 2022: 24 · 2021: 33 · 2020: 18 · 2019: 4
FWCI: 3.57
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Annual Review of Genomics and Human Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: Howard Hughes Medical Institute
Fondation Leducq
Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares
National Institutes of Health
Instituto de Salud Carlos III (PI15/02229)
National Heart, Lung, and Blood Institute (R01HL084553)
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
Keywords: hypertrophic cardiomyopathy, dilated cardiomyopathy, pathogenic variants, myocardial relaxation, sarcomerogenesis, cardiac contractility, energy conservation, therapeutic target, cardioprotection
MeSH terms: Myosin Binding Protein C, Benzylamines, Cardiomyopathy, Dilated, Cardiomyopathy, Hypertrophic, Cardiotonic Agents, Carrier Proteins, Humans, Mutation, Myocardial Contraction, Myocardium, Sarcomeres, Uracil, Urea, Gene Expression, RNA-Binding Proteins, Myosin Heavy Chains, Troponin T, Cardiac Myosins, Connectin

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Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies

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