Factors that render patients with cardiovascular disease at high risk for heart failure remain incompletely defined. Recent insights into molecular genetic causes of myocardial diseases have highlighted the importance of single-gene defects in the pathogenesis of heart failure. Through analyses of the mechanisms by which a mutation selectively perturbs one component of cardiac physiology and triggers cell and molecular responses, studies of human gene mutations provide a window into the complex processes of cardiac remodeling and heart failure. Knowledge gleaned from these studies shows promise for defining novel therapeutic targets for genetic and acquired causes of heart failure.
Hiroyuki Morita, Jonathan Seidman, Christine E. Seidman
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Olmesartan Restores LMNA Function in Haploinsufficient Cardiomyocytes
Kort EJ, Sayed N, Liu C, Mondéjar-Parreño G, Forsberg J, Eugster E, Wu SM, Wu JC, Jovinge S |
Circulation | 2025 |
Epidermal Growth Factor-Like Repeats and Discoidin I-Like Domains 3 Deficiency Attenuates Dilated Cardiomyopathy by Inhibiting Ubiquitin Specific Peptidase 10 Dependent Smad4 Deubiquitination.
Zhao M, Zheng Z, Peng S, Xu Y, Zhang J, Liu J, Pan W, Yin Z, Xu S, Wei C, Wang M, Wan J, Qin JJ |
Journal of the American Heart Association | 2024 |
Efficacy of Beta-Blockers and Angiotensin-Converting Enzyme Inhibitors in Non-Ischemic Dilated Cardiomyopathy: A Systematic Review and Meta-Analysis
Llerena-Velastegui J, Santamaria-Lasso M, Mejia-Mora M, Santander-Aldean M, Granda-Munoz A, Hurtado-Alzate C, de Jesus AC, Baldelomar-Ortiz J |
Cardiology Research | 2024 |
Interaction of Filamin C with Actin Is Essential for Cardiac Development and Function
Zhou X, Fang X, Ithychanda SS, Wu T, Gu Y, Chen C, Wang L, Bogomolovas J, Qin J, Chen J |
Circulation research | 2023 |
Preparing Excitable Cardiac Papillary Muscle and Cardiac Slices for Functional Analyses.
Palmer BM, Bell SP |
Frontiers in physiology | 2022 |
The Role of MicroRNAs in Dilated Cardiomyopathy: New Insights for an Old Entity
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International journal of molecular sciences | 2022 |
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Khalilimeybodi A, Riaz M, Campbell SG, Omens JH, McCulloch AD, Qyang Y, Saucerman JJ |
Journal of Molecular and Cellular Cardiology | 2022 |
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C Mages, H Gampp, P Syren, AK Rahm, F André, N Frey, P Lugenbiel, D Thomas |
Cells | 2021 |
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Engstrom N, Dobson G, Ng K, Letson H |
Annals of Noninvasive Electrocardiology | 2021 |
Cardiac Overexpression of XIN Prevents Dilated Cardiomyopathy Caused by TNNT2 ΔK210 Mutation
Li B, Guo Y, Zhan Y, Zhou X, Li Y, Zhao C, Sun N, Xu C, Liang Q |
Frontiers in Cell and Developmental Biology | 2021 |
Prognostic Association of TERC, TERT Gene Polymorphism, and Leukocyte Telomere Length in Acute Heart Failure: A Prospective Study
Li Y, Cheang I, Zhang Z, Yao W, Zhou Y, Zhang H, Liu Y, Zuo X, Li X, Cao Q |
Frontiers in Endocrinology | 2021 |
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JCI Insight | 2020 |
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JCI Insight | 2020 |
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BO Cojan-Minzat, A Zlibut, L Agoston-Coldea |
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AN Rosenbaum, KE Agre, NL Pereira |
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Philosophical Transactions of the Royal Society B: Biological Sciences | 2019 |
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npj Regenerative Medicine | 2019 |
The role of genetics in the pathophysiology of fibrosis
Christine Kim Garcia |
Journal of Clinical Investigation | 2018 |
Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy
MA Trembley, P Quijada, E Agullo-Pascual, KM Tylock, M Colpan, RA Dirkx, JR Myers, DM Mickelsen, K de Mesy Bentley, E Rothenberg, CS Moravec, JD Alexis, CC Gregorio, RT Dirksen, M Delmar, EM Small |
Circulation | 2018 |
Semantic Multi-Classifier Systems Identify Predictive Processes in Heart Failure Models across Species
L Lausser, L Siegle, W Rottbauer, D Frank, S Just, H Kestler |
Biomolecules | 2018 |
Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines
R Roy, M Krenz |
Journal of Molecular and Cellular Cardiology | 2017 |
Tissue Engineering Approaches in the Design of Healthy and Pathological In Vitro Tissue Models
S Caddeo, M Boffito, S Sartori |
Frontiers in Bioengineering and Biotechnology | 2017 |
The continuing evolution of cardiac troponin I biomarker analysis: from protein to proteoform
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Expert Review of Proteomics | 2017 |
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JCI Insight | 2016 |
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Cardiovascular Research | 2016 |
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Journal of Zhejiang University SCIENCE B | 2016 |
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Cardiovascular Research | 2016 |
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Cho KW, Lee J, Kim Y |
Molecules and Cells | 2016 |
FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy
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JACC: Basic to Translational Science | 2016 |
Common variants in IL-17A/IL-17RA axis contribute to predisposition to and progression of congestive heart failure
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Medicine | 2016 |
A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies
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Frontiers in Cardiovascular Medicine | 2016 |
Associations of Polymorphisms in HRH2, HRH3, DAO, and HNMT Genes with Risk of Chronic Heart Failure
He GH, Cai WK, Zhang JB, Ma CY, Yan F, Lu J, Xu GL |
BioMed Research International | 2016 |
CIP/MLIP senses pathophysiological stresses to regulate cardiac homeostasis
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Journal of Clinical Investigation | 2015 |
Systems analysis reveals down-regulation of a network of pro-survival miRNAs drives the apoptotic response in dilated cardiomyopathy
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Molecular BioSystems | 2015 |
Association of SNP Rs9943582 in APLNR with Left Ventricle Systolic Dysfunction in Patients with Coronary Artery Disease in a Chinese Han GeneID Population
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PloS one | 2015 |
Towards causally cohesive genotype-phenotype modelling for characterization of the soft-tissue mechanics of the heart in normal and pathological geometries
O Nordbo, AB Gjuvsland, A Nermoen, S Land, S Niederer, P Lamata, J Lee, NP Smith, SW Omholt, JO Vik |
Journal of The Royal Society Interface | 2015 |
Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis
J Jiang, PG Burgon, H Wakimoto, K Onoue, JM Gorham, CC O’Meara, G Fomovsky, BK McConnell, RT Lee, JG Seidman, CE Seidman |
Proceedings of the National Academy of Sciences | 2015 |
Cardiovascular genetics: technological advancements and applicability for dilated cardiomyopathy
GJ Kummeling, AF Baas, M Harakalova, JJ der Smagt, FW Asselbergs |
Netherlands Heart Journal | 2015 |
Differential responses of induced pluripotent stem cell-derived cardiomyocytes to anisotropic strain depends on disease status
Chun YW, Voyles DE, Rath R, Hofmeister LH, Boire TC, Wilcox H, Lee JH, Bellan LM, Hong CC, Sung HJ |
Journal of Biomechanics | 2015 |
Pressure Overload by Transverse Aortic Constriction Induces Maladaptive Hypertrophy in a Titin-Truncated Mouse Model
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BioMed Research International | 2015 |
Epigenetic Regulation of Phosphodiesterases 2A and 3A Underlies Compromised β-adrenergic Signaling in an iPSC Model of Dilated Cardiomyopathy
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Cell Stem Cell | 2015 |
A Common Polymorphism of the Human Cardiac Sodium Channel Alpha Subunit (SCN5A) Gene Is Associated with Sudden Cardiac Death in Chronic Ischemic Heart Disease
Marcsa B, Dénes R, Vörös K, Rácz G, Sasvári-Székely M, Rónai Z, Törő K, Keszler G |
PloS one | 2015 |
Genetic Variants Are Not Associated with Outcome in Patients with Coronary Artery Disease and Left Ventricular Dysfunction: Results of the Genetic Sub-study of the Surgical Treatment for Ischemic Heart Failure (STICH) Trials
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The impact of coronary artery disease risk loci on ischemic heart failure severity and prognosis: association analysis in the COntrolled ROsuvastatin multiNAtional trial in heart failure (CORONA)
VG Haver, N Verweij, J Kjekshus, JC Fox, H Wedel, J Wikstrand, WH van Gilst, RA de Boer, DJ van Veldhuisen, P der Harst |
BMC Medical Genetics | 2014 |
Does Nebulin Make Tropomyosin Less Dynamic in Mature Myofibrils in Cross-Striated Myocytes?
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Journal of Cytology & Histology | 2014 |
A computational pipeline for quantification of mouse myocardial stiffness parameters
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SERCA2a Gene Therapy Can Improve Symptomatic Heart Failure in δ-Sarcoglycan-Deficient Animals
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Human Gene Therapy | 2014 |
Top-down Proteomics in Health and Disease: Challenges and Opportunities
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Zemljic-Harpf AE, Godoy JC, Platoshyn O, Asfaw EK, Busija AR, Domenighetti AA, Ross RS |
Journal of cell science | 2014 |
VIP gene deletion in mice causes cardiomyopathy associated with upregulation of heart failure genes
AM Szema, SA Hamidi, SD Smith, H Benveniste |
PloS one | 2013 |
The AP-1 Transcription Factor c-Jun Prevents Stress-Imposed Maladaptive Remodeling of the Heart
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PloS one | 2013 |
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The Journal of biological chemistry | 2013 |
The Genetics of Dilated Cardiomyopathy: A Prioritized Candidate Gene Study of LMNA, TNNT2, TCAP, and PLN
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Clinical Cardiology | 2013 |
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Journal of Clinical Investigation | 2012 |
Ablation of cardiac myosin-binding protein-C accelerates contractile kinetics in engineered cardiac tissue
WJ de Lange, AC Grimes, LF Hegge, JC Ralphe |
The Journal of General Physiology | 2012 |
Patient-Specific Induced Pluripotent Stem Cell as a Model for Familial Dilated Cardiomyopathy
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Science Translational Medicine | 2012 |
At the Start of the Sarcomere: A Previously Unrecognized Role for Myosin Chaperones and Associated Proteins during Early Myofibrillogenesis
Myhre JL, Pilgrim DB |
Biochemistry Research International | 2012 |
Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy
RE Hershberger, JD Siegfried |
Journal of the American College of Cardiology | 2011 |
Structural Basis for Myopathic Defects Engendered by Alterations in the Myosin Rod
A Cammarato, XE Li, MC Reedy, CF Lee, W Lehman, SI Bernstein |
Journal of Molecular Biology | 2011 |
Genetic Variation in the Alternative Splicing Regulator, RBM20, is associated with Dilated Cardiomyopathy
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Heart rhythm : the official journal of the Heart Rhythm Society | 2011 |
Genome-Wide Assessment for Genetic Variants Associated with Ventricular Dysfunction after Primary Coronary Artery Bypass Graft Surgery
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PloS one | 2011 |
Mitogen-Activated Protein Kinase Inhibitor Regulation of Heart Function and Fibrosis in Cardiomyopathy Caused by Lamin A/C Gene Mutation
A Muchir, W Wu, HJ Worman |
Trends in Cardiovascular Medicine | 2010 |
The C Terminus of Cardiac Troponin I Stabilizes the Ca 2+ -Activated State of Tropomyosin on Actin Filaments
A Galińska, V Hatch, R Craig, AM Murphy, JE Eyk, , W Lehman, DB Foster |
Circulation research | 2010 |
Cardiac troponins and autoimmunity: their role in the pathogenesis of myocarditis and of heart failure
Z Kaya, HA Katus, NR Rose |
Clinical Immunology | 2010 |
Deciphering Modifications in Swine Cardiac Troponin I by Top-Down High-Resolution Tandem Mass Spectrometry
Zhang J, Dong X, Hacker TA, Ge Y |
Journal of the American Society for Mass Spectrometry | 2010 |
The impact of genetic testing on hypertrophic cardiomyopathy and heart failure (As of 12072009 by HIRO)
Morita H, Nagai R, Seidman J, Seidman CE |
Journal of Cardiovascular Translational Research | 2010 |
Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry
Greenberg MJ, Kazmierczak K, Szczesna-Cordary D, Moore JR |
Proceedings of the National Academy of Sciences | 2010 |
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Rampersaud E, Kinnamon DD, Hamilton K, Khuri S, Hershberger RE, Martin ER |
Annals of Human Genetics | 2010 |
The Molecular Basis of Frictional Loads in the In Vitro Motility Assay with Applications to the Study of the Loaded Mechanochemistry of Molecular Motors
Greenberg MJ, Moore JR |
Cytoskeleton (Hoboken, N.J.) | 2010 |
A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function
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Cell | 2010 |
Use of genetics in the clinical evaluation and management of heart failure.
Judge DP, Rouf R |
Current Treatment Options in Cardiovascular Medicine | 2010 |
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
Experimental therapies in hypertrophic cardiomyopathy
AJ Marian |
Journal of Cardiovascular Translational Research | 2009 |
Tissue-specific variation in DNA methylation levels along human chromosome 1
CD Bustos, E Ramos, JM Young, RK Tran, U Menzel, CF Langford, EE Eichler, L Hsu, S Henikoff, JP Dumanski, BJ Trask |
Epigenetics & chromatin | 2009 |
Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics
MJ Greenberg, JD Watt, M Jones, K Kazmierczak, D Szczesna-Cordary, JR Moore |
Journal of Molecular and Cellular Cardiology | 2009 |
In Vivo Phosphorylation Site Mapping in Mouse Cardiac Troponin I by High Resolution Top-Down Electron Capture Dissociation Mass Spectrometry: Ser22/23 Are the Only Sites Basally Phosphorylated
S Ayaz-Guner, J Zhang, L Li, JW Walker, Y Ge |
Biochemistry | 2009 |
Progress with genetic cardiomyopathies: Screening, counseling, and testing in dilated, hypertrophic and arrhythmogenic right ventricular dysplasia/cardiomyopathy
Hershberger RE, Cowan J, Morales A, Siegfried JD |
Circulation. Heart failure | 2009 |
Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy
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Circulation. Cardiovascular genetics | 2009 |
Association of a Common KCNE1 Variant with Heart Failure
George AL Jr |
Heart rhythm : the official journal of the Heart Rhythm Society | 2009 |
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
Hassel D, Dahme T, Erdmann J, Meder B, Huge A, Stoll M, Just S, Hess A, Ehlermann P, Weichenhan D, Grimmler M, Liptau H, Hetzer R, Regitz-Zagrosek V, Fischer C, Nürnberg P, Schunkert H, Katus HA, Rottbauer W |
Nature Medicine | 2009 |
Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.
Gramlich M, Michely B, Krohne C, Heuser A, Erdmann B, Klaassen S, Hudson B, Magarin M, Kirchner F, Todiras M, Granzier H, Labeit S, Thierfelder L, Gerull B |
Journal of Molecular and Cellular Cardiology | 2009 |
Disruption of striated preferentially expressed gene locus leads to dilated cardiomyopathy in mice
X Liu, T Ramjiganesh, YH Chen, SW Chung, SR Hall, SL Schissel, RF Padera, R Liao, KG Ackerman, J Kajstura, A Leri, P Anversa, SF Yet, MD Layne, MA Perrella |
Circulation | 2008 |
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy
RE Hershberger, SB Parks, JD Kushner, D Li, S Ludwigsen, P Jakobs, D Nauman, D Burgess, J Partain, M Litt |
Clinical and Translational Science | 2008 |
Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1.
Ababou A, Rostkova E, Mistry S, Le Masurier C, Gautel M, Pfuhl M |
Journal of Molecular Biology | 2008 |
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE |
American Heart Journal | 2008 |
Cardiovascular genetic medicine: evolving concepts, rationale, and implementation.
Hershberger RE |
Journal of Cardiovascular Translational Research | 2008 |
Nitric oxide and peroxynitrite in health and disease
P Pacher, JS Beckman, L Liaudet |
Physiological reviews | 2007 |
Myozenin 2 Is a Novel Gene for Human Hypertrophic Cardiomyopathy
A Osio, L Tan, SN Chen, R Lombardi, SF Nagueh, S Shete, R Roberts, JT Willerson, AJ Marian |
Circulation research | 2007 |
Relevance of nitric oxide for myocardial remodeling
PB Massion, JL Balligand |
Current Heart Failure Reports | 2007 |
Pathophysiologie der Herzinsuffizienz
T Kempf, H Drexler, KC Wollert |
Der Internist | 2007 |
Local control in thin filament activation of cardiac muscle.
Gao WD, Murphy AM |
The Journal of Physiology | 2007 |
Mutations of presenilin genes in dilated cardiomyopathy and heart failure
D Li, SB Parks, JD Kushner, D Nauman, D Burgess, S Ludwigsen, J Partain, RR Nixon, CN Allen, RP Irwin, PM Jakobs, M Litt, RE Hershberger |
The American Journal of Human Genetics | 2006 |
The beta-catenin/T-cell factor/lymphocyte enhancer factor signaling pathway is required for normal and stress-induced cardiac hypertrophy
X Chen, SP Shevtsov, E Hsich, L Cui, S Haq, M Aronovitz, R Kerkelä, JD Molkentin, R Liao, RN Salomon, R Patten, T Force |
Molecular and cellular biology | 2006 |
Calcium signaling phenomena in heart diseases: a perspective
S Chakraborti, S Das, P Kar, B Ghosh, K Samanta, S Kolley, S Ghosh, S Roy, T Chakraborti |
Molecular and Cellular Biochemistry | 2006 |
Pathophysiologie der chronischen Herzinsuffizienz
J Weil, H Schunkert |
Clinical Research in Cardiology | 2006 |
Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy.
Gerull B, Atherton J, Geupel A, Sasse-Klaassen S, Heuser A, Frenneaux M, McNabb M, Granzier H, Labeit S, Thierfelder L |
Journal of Molecular Medicine | 2006 |
Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival
TP Maddatu, SM Garvey, DG Schroeder, W Zhang, SY Kim, AI Nicholson, CJ Davis, GA Cox |
Human Molecular Genetics | 2005 |
Learning from failure: congestive heart failure in the postgenomic age
IJ Benjamin, MD Schneider |
Journal of Clinical Investigation | 2005 |
Role of Oxidative-Nitrosative Stress and Downstream Pathways in Various Forms of Cardiomyopathy and Heart Failure
Ungvári Z, Gupte SA, Recchia FA, Bátkai S, Pacher P |
Current vascular pharmacology | 2005 |
Learning from failure: congestive heart failure in the postgenomic age
Benjamin IJ, Schneider MD |
Journal of Clinical Investigation | 2005 |