Dilated Cardiomyopathy: Genetic Determinants and Mechanisms

Corrigendum to: 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: Developed by the Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC) With the special contribution of the Heart Failure Association (HFA) of the ESC.

McDonagh, T. A., Metra, M., Adamo, M., Gardner, R. S., Baumbach, A., Böhm, M., Burri, H., Butler, J., Čelutkienė, J., Chioncel, O. D., et al. (2021) · PubMed · doi:10.1093/eurheartj/ehab670 · Cited by 20,604

2013 ACCF/AHA Guideline for the Management of Heart Failure

Yancy, C. W., Jessup, M., Bozkurt, B., Butler, J., Casey, D. E., Drazner, M. H., Fonarow, G. C., Geraci, S. A., Horwich, T., Januzzi, J. L., et al. (2013) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2013.05.019 · Cited by 12,536

2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure

Ponikowski, P., Voors, A. A., Anker, S. D., Bueno, H., Cleland, J. G. F., Coats, A. J. S., Falk, V., González-Juanatey, J. R., Harjola, V.-P., Jankowska, E. A., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw128 · Cited by 11,429

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

Priori, S. G., Blomström-Lundqvist, C., Mazzanti, A., Blom, N., Borggrefe, M., Camm, J., Elliott, P. M., Fitzsimons, D., Hatala, R., Hindricks, G., et al. (2015) · European Heart Journal · doi:10.1093/eurheartj/ehv316 · Cited by 3,893

Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

Caforio, A. L. P., Pankuweit, S., Arbustini, E., Basso, C., Gimeno-Blanes, J., Felix, S. B., Fu, M., Heliö, T., Heymans, S., Jahns, R., et al. (2013) · European Heart Journal · doi:10.1093/eurheartj/eht210 · Cited by 3,479

Contemporary Definitions and Classification of the Cardiomyopathies

Maron, B. J., Towbin, J. A., Thiene, G., Antzelevitch, C. N., Corrado, D., Arnett, D. K., Moss, A. J., Seidman, C. E., & Young, J. B. (2006) · Circulation · doi:10.1161/circulationaha.106.174287 · Cited by 3,424

Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases

Elliot, P. M., Andersson, B., Arbustini, E., Bilińska, Z. T., Cecchi, F., Charron, P., Dubourg, O., Kühl, U., Maisch, B., McKenna, W. J., et al. (2007) · European Heart Journal · doi:10.1093/eurheartj/ehm342 · Cited by 2,995

Underlying Causes and Long-Term Survival in Patients with Initially Unexplained Cardiomyopathy

Felker, G. M., Thompson, R. E., Hare, J. M., Hruban, R. H., Clemetson, D. E., Howard, D. L., Baughman, K. L., & Kasper, E. K. (2000) · New England Journal of Medicine · doi:10.1056/nejm200004133421502 · Cited by 1,715

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

Authors Task Force Members, Priori, S. G., Blomström‐Lundqvist, C., Mazzanti, A., Blom, N. A., Borggrefe, M., Camm, J. A., Elliot, P. M., Fitzsimons, D., Hatala, R., et al. (2015) · EP Europace · doi:10.1093/europace/euv319 · Cited by 1,671

Truncations of titin causing dilated cardiomyopathy

Herman, D. S., Lam, L., Taylor, M. R. G., Wang, L., Teekakirikul, P., Christodoulou, D., Conner, L., DePalma, S. R., McDonough, B., Sparks, E., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1110186 · Cited by 1,485

Association of Fibrosis With Mortality and Sudden Cardiac Death in Patients With Nonischemic Dilated Cardiomyopathy

Gulati, A., Jabbour, A., Ismail, T. F., Guha, K., Khwaja, J., Raza, S., Morarji, K., Brown, T. D. H., Ismail, N. A., Dweck, M. R., et al. (2013) · JAMA · doi:10.1001/jama.2013.1363 · Cited by 1,183

Cardiovascular Magnetic Resonance, Fibrosis, and Prognosis in Dilated Cardiomyopathy

Assomull, R. G., Prasad, S. K., Lyne, J. C., Smith, G., Burman, E., KHAN, M. G., Sheppard, M. N., Poole-Wilson, P. A., & Pennell, D. J. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2006.07.049 · Cited by 1,163

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

Pinto, Y. M., Elliot, P. M., Arbustini, E., Adler, Y., Anastasakis, A., Böhm, M., Duboc, D., Gimeno, J. R., de Groote, P., Imazio, M., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehv727 · Cited by 1,122

Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction

Lammerding, J., Schulze, P. C., Takahashi, T., Kozlov, S. V., Sullivan, T. L., Kamm, R. D., Stewart, C. L., & Lee, R. T. (2004) · Journal of Clinical Investigation · doi:10.1172/jci200419670 · Cited by 1,105

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

Hershberger, R. E., Hedges, D. J., & Morales, A. (2013) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2013.105 · Cited by 1,036

The Role of Endomyocardial Biopsy in the Management of Cardiovascular Disease: A Scientific Statement From the American Heart Association, the American College of Cardiology, and the European Society of Cardiology

Cooper, L. T., Baughman, K. L., Feldman, A. M., Frustaci, A., Jessup, M., Kuhl, U., Levine, G. N., Narula, J., Starling, R. C., Towbin, J., et al. (2007) · Circulation · doi:10.1161/circulationaha.107.186093 · Cited by 1,030

Functional screening identifies miRNAs inducing cardiac regeneration

Eulalio, A., Mano, M., Ferro, M. D., Zentilin, L., Sinagra, G., Zacchigna, S., & Giacca, M. (2012) · Nature · doi:10.1038/nature11739 · Cited by 1,029

Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association

Bozkurt, B., Colvin, M. M., Cook, J., Cooper, L. T., Deswal, A. M., Fonarow, G. C., Francis, G. S., Lenihan, D. J., Lewis, E. F., McNamara, D. M., et al. (2016) · Circulation · doi:10.1161/cir.0000000000000455 · Cited by 920

2016 ACC/AHA/HFSA Focused Update on New Pharmacological Therapy for Heart Failure: An Update of the 2013 ACCF/AHA Guideline for the Management of Heart Failure: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Failure Society of America

Yancy, C. W., Jessup, M. L., Bozkurt, B., Butler, J., Casey, D. E., Colvin, M. M., Drazner, M. H., Filippatos, G. S., Fonarow, G. C., Givertz, M. M., et al. (2016) · Circulation · doi:10.1161/cir.0000000000000435 · Cited by 906

Cardiac-Resynchronization Therapy in Heart Failure with a Narrow QRS Complex

Ruschitzka, F., Abraham, W. T., Singh, J. P., Bax, J. J., Borer, J. S., Brugada, J., Dickstein, K., Ford, I., Gorcsan, J., Gras, D., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306687 · Cited by 825

Human induced pluripotent stem cell–derived cardiomyocytes recapitulate the predilection of breast cancer patients to doxorubicin-induced cardiotoxicity

Burridge, P. W., Li, Y. F., Matsa, E., Wu, H., Ong, S., Sharma, A., Holmström, A., Chang, A. C. Y., Coronado, M. J., Ebert, A., et al. (2016) · Nature Medicine · doi:10.1038/nm.4087 · Cited by 746

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Walsh, R., Thomson, K. L., Ware, J. S., Funke, B., Woodley, J., McGuire, K., Mazzarotto, F., Blair, E. M., Seller, A., Taylor, J. C., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.90 · Cited by 735

Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline

Hershberger, R. E., Lindenfeld, J. M., Mestroni, L., Seidman, C. E., Taylor, M. R. G., & Towbin, J. A. (2009) · Journal of Cardiac Failure · doi:10.1016/j.cardfail.2009.01.006 · Cited by 700

Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy

Sun, N., Yazawa, M., Liu, J., Han, L., Sanchez-Freire, V., Abilez, O. J., Navarrete, E. G., Hu, S., Wang, L., Lee, A., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003552 · Cited by 696

Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984.

Codd, M., SUGRUE, D. D., Gersh, B. J., & Melton, L. J. (1989) · Circulation · doi:10.1161/01.cir.80.3.564 · Cited by 638

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

Hinson, J. T., Chopra, A., Nafissi, N., Polacheck, W. J., Benson, C. C., Swist, S., Gorham, J., Yang, L., Schafer, S., Sheng, C. C., et al. (2015) · Science · doi:10.1126/science.aaa5458 · Cited by 638

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

Ware, J. S., Li, J., Mazaika, E., Yasso, C. M., DeSouza, T., Cappola, T. P., Tsai, E. J., Hilfiker‐Kleiner, D., Kamiya, C., Mazzarotto, F., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1505517 · Cited by 625

2016 ACC/AHA/HFSA Focused Update on New Pharmacological Therapy for Heart Failure: An Update of the 2013 ACCF/AHA Guideline for the Management of Heart Failure

Yancy, C. W., Jessup, M. L., Bozkurt, B., Butler, J., Casey, D. E., Colvin, M. M., Drazner, M. H., Filippatos, G. S., Fonarow, G. C., Givertz, M. M., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.05.011 · Cited by 617

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

Gerull, B., Gramlich, M., Atherton, J. J., McNabb, M., Trombitás, K., Klaassen, S., Seidman, J. G., Seidman, C. E., Granzier, H., Labeit, S., et al. (2002) · Nature Genetics · doi:10.1038/ng815 · Cited by 616

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

Guo, W., Schafer, S., Greaser, M. L., Radke, M. H., Liss, M., Govindarajan, T., Maatz, H., Schulz, H., Li, S., Parrish, A. M., et al. (2012) · Nature Medicine · doi:10.1038/nm.2693 · Cited by 589

The Diagnosis and Evaluation of Dilated Cardiomyopathy

Japp, A. G., Gulati, A., Cook, S. A., Cowie, M., & Prasad, S. K. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.03.590 · Cited by 568

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers

van Rijsingen, I. A. W., Arbustini, E., Elliot, P. M., Mogensen, J., Ast, J. F. H.-V., van der Kooi, A. J., van Tintelen, J. P., van den Berg, M. P., Pilotto, A., Pasotti, M., et al. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2011.08.078 · Cited by 539

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Roberts, A. M., Ware, J. S., Herman, D. S., Schäfer, S., Baksi, J. A., Bick, A. G., Buchan, R. J., Walsh, R., John, S., Wilkinson, S., et al. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.3010134 · Cited by 502

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

Ortiz-Genga, M., Cuenca, S., Ferro, M. D., Zorio, E., Salgado‐Aranda, R., Climent, V. E., Padrón-Barthe, L., Duro-Aguado, I., Jiménez‐Jáimez, J., Hidalgo-Olivares, V. M., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.09.927 · Cited by 488

Altered titin expression, myocardial stiffness, and left ventricular function in patients with dilated cardiomyopathy

Nagueh, S. F., Shah, G., Wu, Y., Torre-Amione, G., King, N. M. P., Lahmers, S., Witt, C. C., Becker, K., Labeit, S., & Granzier, H. L. (2004) · Circulation · doi:10.1161/01.cir.0000135591.37759.af · Cited by 486

Genetic mutations and mechanisms in dilated cardiomyopathy

McNally, E. M., Golbus, J. R., & Puckelwartz, M. J. (2013) · Journal of Clinical Investigation · doi:10.1172/jci62862 · Cited by 482

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Hackman, P., Vihola, A., Haravuori, H., Marchand, S., Sarparanta, J., Seze, J. D., Labeit, S., Witt, C. C., Peltonen, L., Richard, I., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/342380 · Cited by 473

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

van Berlo, J. H., de Voogt, W. G., van der Kooi, A. J., van Tintelen, J. P., Bonne, G., Yaou, R. B., Duboc, D., Rossenbacker, T., Heidbüchel, H., de Visser, M., et al. (2004) · Journal of Molecular Medicine · doi:10.1007/s00109-004-0589-1 · Cited by 467

Phospholamban R14del Mutation in Patients Diagnosed with Dilated Cardiomyopathy or Arrhythmogenic Right Ventricular Cardiomyopathy: Evidence Supporting the Concept of Arrhythmogenic Cardiomyopathy

van der Zwaag, P. A., van Rijsingen, I. A. W., Asimaki, A., Jongbloed, J. D. H., van Veldhuisen, D. J., Wiesfeld, A. C. P., Cox, M. G. P. J., van Lochem, L. T., de Boer, R. A., Hofstra, R. M. W., et al. (2012) · European Journal of Heart Failure · doi:10.1093/eurjhf/hfs119 · Cited by 466

The role of endomyocardial biopsy in the management of cardiovascular disease

Cooper, L. T., Baughman, K. L., Feldman, A. M., Frustaci, A., Jessup, M. L., Kühl, U., Levine, G. N., Narula, J., Starling, R. C., Towbin, J. A., et al. (2007) · European Heart Journal · doi:10.1093/eurheartj/ehm456 · Cited by 465

A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

Asimaki, A., Tandri, H., Huang, H., Halushka, M. K., Gautam, S., Basso, C., Thiene, G., Tsatsopoulou, A., Protonotarios, N., McKenna, W. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0808138 · Cited by 456

Guidelines for the study of familial dilated cardiomyopathies

Mestroni, L. (1999) · European Heart Journal · doi:10.1053/euhj.1998.1145 · Cited by 446

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C–deficient mice

Nikolova-Krstevski, V., Leimena, C., McMahon, A. C., Tan, J. C., Chandar, S., Jogia, D., Kesteven, S. H., Michalicek, J., Otway, R., Verheyen, F., et al. (2004) · Journal of Clinical Investigation · doi:10.1172/jci19448 · Cited by 436

Frequency and Phenotypes of Familial Dilated Cardiomyopathy

Grünig, E., Tasman, J. A., Kücherer, H. F., Franz, W. M., Kübler, W., & Katus, H. A. (1998) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(97)00434-8 · Cited by 435

Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute Workshop)

Manolio, T. A., Baughman, K. L., Rodeheffer, R. R., Pearson, T. A., Bristow, J. D., Michels, V. V., Abelmann, W. H., & Harlan, W. R. (1992) · The American Journal of Cardiology · doi:10.1016/0002-9149(92)90901-a · Cited by 433

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Pugh, T. J., Kelly, M., Gowrisankar, S., Hynes, E. D., Seidman, M. A., Baxter, S. M., Bowser, M., Harrison, B., Aaron, D., Mahanta, L., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2013.204 · Cited by 370

Mutations in Ribonucleic Acid Binding Protein Gene Cause Familial Dilated Cardiomyopathy

Brauch, K. M., Karst, M. L., Herron, K. J., de Andrade, M., Pellikka, P. A., Rodeheffer, R. J., Michels, V. V., & Olson, T. M. (2009) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2009.05.038 · Cited by 364

A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy

Haghighi, K., Kolokathis, F., Gramolini, A. O., Waggoner, J. R., Pater, L. E., Lynch, R. A., Fan, G., Tsiapras, D., Parekh, R. R., Dorn, G. W., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0510519103 · Cited by 361

Titin-truncating variants affect heart function in disease cohorts and the general population

Schäfer, S., de Marvao, A., Adami, E., Fiedler, L. R., Ng, B., Khin, E. S. W., Rackham, O. J. L., van Heesch, S., Pua, C. J., Kui, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3719 · Cited by 360

Rapamycin Reverses Elevated mTORC1 Signaling in Lamin A/C–Deficient Mice, Rescues Cardiac and Skeletal Muscle Function, and Extends Survival

Ramos, F. J., Chen, S. C., Garelick, M. G., Dai, D.-F., Liao, C.-Y., Schreiber, K. H., MacKay, V. L., An, E. H., Strong, R., Ladiges, W. C., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003802 · Cited by 349

Mutations in the human δ-sarcoglycan gene in familial and sporadic dilated cardiomyopathy

Tsubata, S., Bowles, K. R., Vatta, M., Zintz, C., Titus, J. L., Muhonen, L. E., Bowles, N. E., & Towbin, J. A. (2000) · Journal of Clinical Investigation · doi:10.1172/jci9224 · Cited by 340

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy

Burke, M. A., Cook, S. A., Seidman, J. G., & Seidman, C. E. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.08.079 · Cited by 336

Familial dilated cardiomyopathy

Mestroni, L., Rocco, C., Gregori, D., Sinagra, G., Lenarda, A. D., Miočiċ, S., Vatta, M., Pinamonti, B., Francesco Muntoni, A., Caforio, A. L. P., et al. (1999) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(99)00172-2 · Cited by 310

Long-Term Arrhythmic and Nonarrhythmic Outcomes of Lamin A/C Mutation Carriers

Kumar, S., Baldinger, S. H., Gandjbakhch, E., Maury, P., Sellal, J., Androulakis, A. F. A., Waintraub, X., Charron, P., Rollin, A., Richard, P., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.08.058 · Cited by 309

Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein

Thompson, T. G., Chan, Y.-M. M., Hack, A. A., Brosius, M. A., Rajala, M. W., Lidov, H. G. W., McNally, E. M., Watkins, S. C., & Kunkel, L. M. (2000) · The Journal of Cell Biology · doi:10.1083/jcb.148.1.115 · Cited by 294

Genetic Predictors and Remodeling of Dilated Cardiomyopathy in Muscular Dystrophy

Jefferies, J. L., Eidem, B. W., Belmont, J. W., Craigen, W. J., Ware, S. M., Fernbach, S. D., Neish, S. R., Smith, E. O., & Towbin, J. A. (2005) · Circulation · doi:10.1161/circulationaha.104.528281 · Cited by 287

RBM20 Regulates Circular RNA Production From the Titin Gene

Khan, M. A. F., Reckman, Y. J., Aufiero, S., van den Hoogenhof, M. M. G., van der Made, I., Beqqali, A., Koolbergen, D. R., Rasmussen, T. B., van der Velden, J., Creemers, E. E., et al. (2016) · Circulation Research · doi:10.1161/circresaha.116.309568 · Cited by 284

Cardiomyocytes Derived From Pluripotent Stem Cells Recapitulate Electrophysiological Characteristics of an Overlap Syndrome of Cardiac Sodium Channel Disease

Davis, R. P., Casini, S., van den Berg, C. W., Hoekstra, M., Remme, C. A., Dambrot, C., Salvatori, D. C. F., Oostwaard, D. W., Wilde, A. A. M., Bezzina, C. R., et al. (2012) · Circulation · doi:10.1161/circulationaha.111.066092 · Cited by 274

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

Parks, S. B., Kushner, J. D., Nauman, D. J., Burgess, D., Ludwigsen, S., Peterson, A., Li, D., Jakobs, P. M., Litt, M. J., Porter, C., et al. (2008) · American Heart Journal · doi:10.1016/j.ahj.2008.01.026 · Cited by 256

Peripartum Cardiomyopathy as a Part of Familial Dilated Cardiomyopathy

van Spaendonck‐Zwarts, K. Y., van Tintelen, J. P., van Veldhuisen, D. J., van der Werf, R., Jongbloed, J. D. H., Paulus, W. J., Dooijes, D., & van den Berg, M. P. (2010) · Circulation · doi:10.1161/circulationaha.109.929646 · Cited by 244

Mitochondrial DNA Mutations and Mitochondrial Abnormalities in Dilated Cardiomyopathy

Arbustini, E., Diegoli, M., Fasani, R., Grasso, M., Morbini, P., Banchieri, N., Bellini, O., Bello, B. D., Pilotto, A., Magrini, G., et al. (1998) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)65738-0 · Cited by 239

SCN5A Mutations Associate With Arrhythmic Dilated Cardiomyopathy and Commonly Localize to the Voltage-Sensing Mechanism

McNair, W. P., Sinagra, G., Taylor, M. R. G., Lenarda, A. D., Ferguson, D. A., Salcedo, E. E., Slavov, D. B., Zhu, X., Caldwell, J. H., & Mestroni, L. (2011) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2010.09.084 · Cited by 233

Temsirolimus Activates Autophagy and Ameliorates Cardiomyopathy Caused by Lamin A/C Gene Mutation

Choi, J. C., Muchir, A., Wu, W., Iwata, S., Homma, S., Morrow, J., & Worman, H. J. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003875 · Cited by 228

Recessive truncating titin gene, TTN , mutations presenting as centronuclear myopathy

Ceyhan‐Birsoy, O., Agrawal, P. B., Hidalgo, C. G., Schmitz‐Abe, K., DeChene, E. T., Swanson, L. C., Soemedi, R., Vasli, N., Iannaccone, S. T., Shieh, P. B., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a6ca62 · Cited by 221

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing

Maatz, H., Jens, M., Liss, M., Schäfer, S., Heinig, M., Kirchner, M., Adami, E., Rintisch, C., Dauksaite, V., Radke, M. H., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci74523 · Cited by 221

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

van Spaendonck‐Zwarts, K. Y., Pósafalvi, A., van den Berg, M. P., Hilfiker‐Kleiner, D., Bollen, I. A. E., Sliwa, K. S., Alders, M. M., Almomani, R., van Langen, I. M., van der Meer, P., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/ehu050 · Cited by 220

Patient-Specific and Genome-Edited Induced Pluripotent Stem Cell–Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Brugada Syndrome

Liang, P., Sallam, K., Wu, H., Li, Y., Itzhaki, I., Garg, P., Zhang, Y., Termglichan, V., Lan, F., Gu, M., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.07.779 · Cited by 220

Rare Variant Mutations in Pregnancy-Associated or Peripartum Cardiomyopathy

Morales, A., Painter, T. W., Li, R., Siegfried, J. D., Li, D., Norton, N., & Hershberger, R. E. (2010) · Circulation · doi:10.1161/circulationaha.109.931220 · Cited by 215

Prediction of Arrhythmic Events in Ischemic and Dilated Cardiomyopathy Patients Referred for Implantable Cardiac Defibrillator

Gao, P., Yee, R. K., Gula, L. J., Krahn, A. D., Skanes, A. C., Leong‐Sit, P., Klein, G. J., Stirrat, J., Fine, N. M., Pallaveshi, L., et al. (2012) · Circulation Cardiovascular Imaging · doi:10.1161/circimaging.111.971549 · Cited by 209

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy

Karakikes, I., Stillitano, F., Nonnenmacher, M. E., Tzimas, C., Sanoudou, D., Termglinchan, V., Kong, C., Rushing, S. N., Hansen, J., Ceholski, D. K., et al. (2015) · Nature Communications · doi:10.1038/ncomms7955 · Cited by 206

Familial dilated cardiomyopathy: Evidence for genetic and phenotypic heterogeneity

Mestroni, L., Rocco, C., Gregori, D., Sinagra, G., Lenarda, A. D., Miočiċ, S., Vatta, M., Pinamonti, B., Francesco Muntoni, A., Caforio, A. L. P., et al. (1999) · Journal of Cardiac Failure · doi:10.1016/s1071-9164(99)91449-5 · Cited by 205

Identification of Novel Mutations in RBM20 in Patients with Dilated Cardiomyopathy

Li, D., Morales, A., Gonzalez‐Quintana, J., Norton, N., Siegfried, J. D., Hofmeyer, M. R., & Hershberger, R. E. (2010) · Clinical and Translational Science · doi:10.1111/j.1752-8062.2010.00198.x · Cited by 199

Mitogen-Activated Protein Kinase Inhibitors Improve Heart Function and Prevent Fibrosis in Cardiomyopathy Caused by Mutation in Lamin A/C Gene

Wu, W., Muchir, A., Shan, J., Bonne, G., & Worman, H. J. (2010) · Circulation · doi:10.1161/circulationaha.110.970673 · Cited by 195

Loss of FilaminC (FLNc) Results in Severe Defects in Myogenesis and Myotube Structure

Dalkilic, I., Schienda, J., Thompson, T. G., & Kunkel, L. M. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.00243-06 · Cited by 184

Mineralocorticoid receptor antagonists for heart failure with reduced ejection fraction: integrating evidence into clinical practice

Zannad, F. M., Stough, W. G., Rossignol, P., Bauersachs, J., McMurray, J. J. V., Swedberg, K. B., Struthers, A. D., Voors, A. A., Ruilope, L. M., Bakris, G. L., et al. (2012) · European Heart Journal · doi:10.1093/eurheartj/ehs257 · Cited by 183

Evidence for a Dystrophin Missense Mutation as a Cause of X-Linked Dilated Cardiomyopathy

Ortı́z-López, R., Li, H., Su, J. T., Goytia, V. K., & Towbin, J. A. (1997) · Circulation · doi:10.1161/01.cir.95.10.2434 · Cited by 181

Truncating Titin Mutations are Associated with a Mild and Treatable form of Dilated Cardiomyopathy

Jansweijer, J. A., Nieuwhof, K., Russo, F., Hoorntje, E. T., Jongbloed, J. D. H., Deprez, R. H. L., Postma, A. V., Bronk, M., van Rijsingen, I. A. W., de Haij, S., et al. (2016) · European Journal of Heart Failure · doi:10.1002/ejhf.673 · Cited by 175

One-Year Follow-Up Results from AUGMENT-HF: A Multicentre Randomized Controlled Clinical Trial of the Efficacy of Left Ventricular Augmentation with Algisyl in the Treatment of Heart Failure

Mann, D. L., Lee, R. J., Coats, A. J. S., Neagoe, G., Dragomir, D., Pusineri, E., Piredda, M., Bettari, L., Kirwan, B., Dowling, R. D., et al. (2015) · European Journal of Heart Failure · doi:10.1002/ejhf.449 · Cited by 172

Impact of the presence and amount of myocardial fibrosis by cardiac magnetic resonance on arrhythmic outcome and sudden cardiac death in nonischemic dilated cardiomyopathy

Marra, M. P., Lazzari, M. D., Zorzi, A., Migliore, F., Zilio, F., Calore, C., Vettor, G., Tona, F., Tarantini, G., Cacciavillani, L., et al. (2014) · Heart Rhythm · doi:10.1016/j.hrthm.2014.01.014 · Cited by 170

Echocardiographic Evaluation in Asymptomatic Relatives of Patients with Dilated Cardiomyopathy Reveals Preclinical Disease

Mahon, N., Murphy, R. T., MacRae, C. A., Caforio, A. L. P., Elliot, P. M., & McKenna, W. J. (2005) · Annals of Internal Medicine · doi:10.7326/0003-4819-143-2-200507190-00009 · Cited by 170

HRS/ACC/AHA Expert Consensus Statement on the Use of Implantable Cardioverter-Defibrillator Therapy in Patients Who Are Not Included or Not Well Represented in Clinical Trials

Kusumoto, F. M., Calkins, H. G., BOEHMER, J. P., Buxton, A. E., Chung, M. K., Gold, M. R., Hohnloser, S. H., Indik, J. H., Lee, R., Mehra, M. R., et al. (2014) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2014.04.008 · Cited by 170

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics

van Tintelen, J. P., Hofstra, R. M. W., Katerberg, H., Rossenbacker, T., Wiesfeld, A. C. P., Sarvaas, G. J. D. M., Wilde, A. A. M., van Langen, I. M., Nannenberg, E. A., van der Kooi, A. J., et al. (2007) · American Heart Journal · doi:10.1016/j.ahj.2007.07.038 · Cited by 168

Genetics and genotype–phenotype correlations in Finnish patients with dilated cardiomyopathy

Akinrinade, O., Ollila, L., Vattulainen, S., Tallila, J., Gentile, M., Salmenperä, P., Koillinen, H., Kaartinen, M., Nieminen, M. S., Myllykangas, S., et al. (2015) · European Heart Journal · doi:10.1093/eurheartj/ehv253 · Cited by 166

Delayed Contrast Enhancement on MR Images of Myocardium: Past, Present, Future

Ordovas, K. G., & Higgins, C. B. (2011) · Radiology · doi:10.1148/radiol.11091882 · Cited by 161

European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene

Haas, M., Vlcek, V., Balabanov, P. P., Salmonson, T., Bakchine, S., Markey, G., Weise, M., Schlosser‐Weber, G., Brohmann, H., Yerro, C. P., et al. (2014) · Neuromuscular Disorders · doi:10.1016/j.nmd.2014.11.011 · Cited by 160

Population-Based Variation in Cardiomyopathy Genes

Golbus, J. R., Puckelwartz, M. J., Fahrenbach, J. P., Dellefave‐Castillo, L. M., Wolfgeher, D., & McNally, E. M. (2012) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.112.962928 · Cited by 157

Genetic Analysis in 418 Index Patients with Idiopathic Dilated Cardiomyopathy: Overview of 10 Years’ Experience

van Spaendonck‐Zwarts, K. Y., van Rijsingen, I. A. W., van den Berg, M. P., Deprez, R. H. L., Post, J. G., van Mil, A. M., Asselbergs, F. W., Christiaans, I., van Langen, I. M., Wilde, A. A. M., et al. (2013) · European Journal of Heart Failure · doi:10.1093/eurjhf/hft013 · Cited by 156

Cardiac Titin and Heart Disease

LeWinter, M. M., & Granzier, H. L. M. (2013) · Journal of Cardiovascular Pharmacology · doi:10.1097/fjc.0000000000000007 · Cited by 155

Rbm20 regulates titin alternative splicing as a splicing repressor

Li, S., Guo, W., Dewey, C. N., & Greaser, M. L. (2013) · Nucleic Acids Research · doi:10.1093/nar/gks1362 · Cited by 155

Prelamin A Farnesylation and Progeroid Syndromes

Young, S. G., Meta, M. D., Yang, S. H., & Fong, L. G. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.r600033200 · Cited by 148

R222Q SCN5A Mutation Is Associated With Reversible Ventricular Ectopy and Dilated Cardiomyopathy

Mann, S. A., Castro, M. L., Ohanian, M., Guo, G., Zodgekar, P. R., Sheu, A., Stockhammer, K., Thompson, T. N., Playford, D. A., Subbiah, R. N., et al. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.05.050 · Cited by 148

A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy

Ashrafian, H., Docherty, L., Leo, V., Towlson, C., Neilan, M., Steeples, V., Lygate, C. A., Hough, T., Townsend, S., Williams, D. J., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001000 · Cited by 142

Genetics of Myocarditis in Arrhythmogenic Right Ventricular Dysplasia

Lopez-Ayala, J. M., Pastor-Quirante, F., Gonzalez-Carrillo, J., Lopez-Cuenca, D., Sanchez-Munoz, J. J., Oliva-Sandoval, M. J., & Gimeno, J. R. (2015) · Heart Rhythm · doi:10.1016/j.hrthm.2015.01.001 · Cited by 140

Arrhythmogenic Phenotype in Dilated Cardiomyopathy: Natural History and Predictors of Life‐Threatening Arrhythmias

Spezzacatene, A., Sinagra, G., Merlo, M., Barbati, G., Graw, S. L., Brun, F., Slavov, D. B., Lenarda, A. D., Salcedo, E. E., Towbin, J. A., et al. (2015) · Journal of the American Heart Association · doi:10.1161/jaha.115.002149 · Cited by 138

HRS/ACC/AHA Expert Consensus Statement on the Use of Implantable Cardioverter-Defibrillator Therapy in Patients Who Are Not Included or Not Well Represented in Clinical Trials

Kusumoto, F. M., Calkins, H. G., BOEHMER, J. P., Buxton, A. E., Chung, M. K., Gold, M. R., Hohnloser, S. H., Indik, J. H., Lee, R., Mehra, M. R., et al. (2014) · Circulation · doi:10.1161/cir.0000000000000056 · Cited by 135

Aetiology of Heart Failure as Seen from a National Cardiac Referral Centre in Africa

Amoah, A. G. B., & Kallen, C. (2000) · Cardiology · doi:10.1159/000006996 · Cited by 134

The Genetic Landscape of Cardiomyopathy and Its Role in Heart Failure

McNally, E. M., Barefield, D. Y., & Puckelwartz, M. J. (2015) · Cell Metabolism · doi:10.1016/j.cmet.2015.01.013 · Cited by 134

Idiopathic cardiomyopathy in the United States, 1970–1982

Gillum, R. F. (1986) · American Heart Journal · doi:10.1016/0002-8703(86)90111-0 · Cited by 131

Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update

Ganesh, S. K., Arnett, D. K., Assimes, T. L., Basson, C. T., Chakravarti, A., Ellinor, P. T., Engler, M. B., Goldmuntz, E., Herrington, D. M., Hershberger, R. E., et al. (2013) · Circulation · doi:10.1161/01.cir.0000437913.98912.1d · Cited by 130

Cardiomyocytes Obtained From Induced Pluripotent Stem Cells With Long-QT Syndrome 3 Recapitulate Typical Disease-Specific Features In Vitro

Malan, D., Friedrichs, S., Fleischmann, B. K., & Sasse, P. (2011) · Circulation Research · doi:10.1161/circresaha.111.243139 · Cited by 129

Review and Metaanalysis of the Frequency of Familial Dilated Cardiomyopathy

Petretta, M., Pirozzi, F., Sasso, L., Paglia, A., & Bonaduce, D. (2011) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2011.06.022 · Cited by 126

FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

Begay, R. L., Tharp, C. A., Martin, A., Graw, S. L., Sinagra, G., Miani, D., Sweet, M., Slavov, D. B., Stafford, N., Zeller, M. J., et al. (2016) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2016.05.004 · Cited by 126

Exon skipping: a first in class strategy for Duchenne muscular dystrophy

Niks, E. H., & Aartsma-Rus, A. M. (2016) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2017.1271872 · Cited by 125

Mutations in the mitochondrial thioredoxin reductase gene TXNRD2 cause dilated cardiomyopathy

Sibbing, D., Pfeufer, A., Perisic, T., Mannes, A. M., Fritz‐Wolf, K., Unwin, S., Sinner, M. F., Gieger, C., Gloeckner, C. J., Wichmann, H. ‐., et al. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehq507 · Cited by 120

A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies

Gigli, M., Begay, R. L., Morea, G., Graw, S. L., Sinagra, G., Taylor, M. R. G., Granzier, H. L. M., & Mestroni, L. (2016) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2016.00021 · Cited by 117

Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy

Captur, G., Lopes, L. R., Mohun, T. J., Patel, V., Li, C., Bassett, P., Finocchiaro, G., Ferreira, V. M., Tome, M., Muthurangu, V., et al. (2014) · Circulation Cardiovascular Imaging · doi:10.1161/circimaging.114.002411 · Cited by 115

Exome Sequencing and Genome-Wide Linkage Analysis in 17 Families Illustrate the Complex Contribution of TTN Truncating Variants to Dilated Cardiomyopathy

Norton, N., Li, D., Rampersaud, E., Morales, A., Martin, E. R., Zuchner, S. L., Guo, S., Gonzalez, M., Hedges, D. J., Robertson, P. D., et al. (2013) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.111.000062 · Cited by 115

New Approaches in the Therapy of Cardiomyopathy in Muscular Dystrophy

McNally, E. M. (2007) · Annual Review of Medicine · doi:10.1146/annurev.med.58.011706.144703 · Cited by 115

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

Brown, C. A., Lanning, R. W., McKinney, K. Q., Salvino, A. R., Cherniske, E. M., Crowe, C. A., Darras, B. T., Gominak, S. C., Greenberg, C. R., Grosmann, C., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1463 · Cited by 113

Truncation of Titin’s Elastic PEVK Region Leads to Cardiomyopathy With Diastolic Dysfunction

Granzier, H. L. M., Radke, M. H., Peng, J., Westermann, D., Nelson, O. L., Rost, K., King, N. M. P., Yu, Q., Tschöpe, C., McNabb, M., et al. (2009) · Circulation Research · doi:10.1161/circresaha.109.200964 · Cited by 112

Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects

Hasselberg, N. E., Edvardsen, T., Petri, H., Berge, K. E., Leren, T. P., Bundgaard, H., & Haugaa, K. H. (2013) · EP Europace · doi:10.1093/europace/eut291 · Cited by 110

Epidemiology of idiopathic cardiomyopathy in Japan: results from a nationwide survey

Miura, K., Nakagawa, H., Morikawa, Y., Sasayama, S., Matsumori, A., Hasegawa, K., Ohno, Y., Tamakoshi, A., Kawamura, T., & Inaba, Y. (2002) · Heart · doi:10.1136/heart.87.2.126 · Cited by 110

A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank–Starling mechanism

Beqqali, A., Bollen, I. A. E., Rasmussen, T. B., van den Hoogenhof, M. M. G., van Deutekom, H. W. M., Schäfer, S., Haas, J., Meder, B., Sørensen, K. E., van Oort, R. J., et al. (2016) · Cardiovascular Research · doi:10.1093/cvr/cvw192 · Cited by 110

Prognostic Impact of Hypertrabeculation and Noncompaction Phenotype in Dilated Cardiomyopathy

Amzulescu, M. S., Rousseau, M. F., Ahn, S. A., Boileau, L., de Meester, C., Vancraeynest, D., Pasquet, A., Vanoverschelde, J., Pouleur, A., & Gerber, B. L. (2015) · JACC. Cardiovascular imaging · doi:10.1016/j.jcmg.2015.04.015 · Cited by 108

Genetic causes of dilated cardiomyopathy

Mestroni, L., Brun, F., Spezzacatene, A., Sinagra, G., & Taylor, M. R. G. (2014) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2014.10.003 · Cited by 105

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Roncarati, R., Anselmi, C. V., Krawitz, P. M., Lattanzi, G., Kodolitsch, Y. V., Perrot, A., Pasquale, E. D., Papa, L., Portararo, P., Columbaro, M., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.16 · Cited by 104

An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

Zou, J., Tran, D., Baalbaki, M., Tang, L. F. P., Poon, A., Pelonero, A., Titus, E. W., Yuan, C., Shi, C., Patchava, S., et al. (2015) · eLife · doi:10.7554/elife.09406 · Cited by 104

LMNA cardiomyopathy: cell biology and genetics meet clinical medicine

Lu, J. T., Muchir, A., Nagy, P. L., & Worman, H. J. (2011) · Disease Models & Mechanisms · doi:10.1242/dmm.006346 · Cited by 99

Epidemiology of dilated cardiomyopathy: A prospective post-mortem study of 5252 necropsies

Rakar, S., Sinagra, G., Lenarda, A. D., Poletti, A., Bussani, R., Silvestri, F., Camerini, F., & the Heart Muscle Disease Study Group (1997) · European Heart Journal · doi:10.1093/oxfordjournals.eurheartj.a015092 · Cited by 96

Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation

Dellefave‐Castillo, L. M., Pytel, P., Mewborn, S. K., Mora, B. N., Guris, D. L., Fedson, S., Waggoner, D., Moskowitz, I. P. G., & McNally, E. M. (2009) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.109.861955 · Cited by 95

Role of Titin Missense Variants in Dilated Cardiomyopathy

Begay, R. L., Graw, S. L., Sinagra, G., Merlo, M., Slavov, D., Gowan, K., Jones, K. L., Barbati, G., Spezzacatene, A., Brun, F., et al. (2015) · Journal of the American Heart Association · doi:10.1161/jaha.115.002645 · Cited by 95

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

Wessels, M. W., Herkert, J. C., Frohn-Mulder, I. M. E., Dalinghaus, M., van den Wijngaard, A., de Krijger, R. R., Michels, M., de Coo, I. F. M., Hoedemaekers, Y. M., & Dooijes, D. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.211 · Cited by 92

Phospholamban R14 Deletion Results in Late-Onset, Mild, Hereditary Dilated Cardiomyopathy

DeWitt, M. M., MacLeod, H. M., Soliven, B. C., & McNally, E. M. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2006.07.016 · Cited by 92

Titin-based tension in the cardiac sarcomere: Molecular origin and physiological adaptations

Anderson, B. R., & Granzier, H. L. M. (2012) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2012.08.003 · Cited by 92

Modeling structural and functional deficiencies ofRBM20familial dilated cardiomyopathy using human induced pluripotent stem cells

Wyles, S. P., Li, X., Hrstka, S., Reyes, S., Oommen, S., Beraldi, R., Edwards, J., Terzic, A., Olson, T. M., & Nelson, T. J. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv468 · Cited by 87

Translating Stem Cell Research to Cardiac Disease Therapies

Rosen, M. R., Myerburg, R. J., Francis, D. P., Cole, G. D., & Marbán, E. (2014) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2014.06.1175 · Cited by 85

A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia

Liu, G., Morales, A., Vafiadaki, E., Lam, C. K., Cai, W., Haghighi, K., Adly, G., Hershberger, R. E., & Kranias, E. G. (2015) · Cardiovascular Research · doi:10.1093/cvr/cvv127 · Cited by 85

Aberrant sodium influx causes cardiomyopathy and atrial fibrillation in mice

Wan, E. Y., Abrams, J., Weinberg, R. L., Katchman, A. N., Bayne, J., Zakharov, S. I., Yang, L., Morrow, J., Garan, H., & Marx, S. O. (2015) · Journal of Clinical Investigation · doi:10.1172/jci84669 · Cited by 84

Characteristics, Treatments, and Outcomes of Hospitalized Heart Failure Patients Stratified by Etiologies of Cardiomyopathy

Shore, S., Grau‐Sepulveda, M. V., Bhatt, D. L., Heidenreich, P. A., Eapen, Z. J., Hernandez, A. F., Yancy, C. W., & Fonarow, G. C. (2015) · JACC Heart Failure · doi:10.1016/j.jchf.2015.06.012 · Cited by 81

Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1

Wahbi, K., Babuty, D., Probst, V., Wissocque, L., Labombarda, F., Porcher, R., Bécane, H. M., Lazarus, A., Béhin, A., Laforêt, P., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw569 · Cited by 81

Diagnosis, prevalence, and screening of familial dilated cardiomyopathy

Sweet, M., Taylor, M. R. G., & Mestroni, L. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1057498 · Cited by 78

Incidence of congestive cardiomyopathy

Torp, A. (1978) · Postgraduate Medical Journal · doi:10.1136/pgmj.54.633.435 · Cited by 78

Genomic correction of familial cardiomyopathy in human engineered cardiac tissues

Stillitano, F., Turnbull, I. C., Karakikes, I., Nonnenmacher, M., Backeris, P., Hulot, J.-S., Kranias, E. G., Hajjar, R. J., & Costa, K. D. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw307 · Cited by 77

Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy

Feng, J., Jin, Y., Buzin, C. H., Towbin, J. A., & Sommer, S. S. (2002) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(02)00153-1 · Cited by 75

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish

Zahka, K. G., Kalidas, K., Simpson, M. A., Cross, H. E., Keller, B. B., Galambos, C., Gurtz, K., Patton, M. A., & Crosby, A. H. (2008) · Heart · doi:10.1136/hrt.2007.127241 · Cited by 74

Prevalence of overt dilated cardiomyopathy in two regions of England.

Williams, D. G., & Olsen, E. G. J. (1985) · Heart · doi:10.1136/hrt.54.2.153 · Cited by 71

Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation

Rijdt, W. P. T., van Tintelen, J. P., Vink, A., van der Wal, A. C., de Boer, R. A., van den Berg, M. P., & Suurmeijer, A. J. H. (2016) · Histopathology · doi:10.1111/his.12963 · Cited by 70

Targeted Analysis of Whole Genome Sequence Data to Diagnose Genetic Cardiomyopathy

Golbus, J. R., Puckelwartz, M. J., Dellefave‐Castillo, L. M., Fahrenbach, J. P., Nelakuditi, V., Pesce, L. L., Pytel, P., & McNally, E. M. (2014) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000578 · Cited by 69

A Systematic Analysis of Genetic Dilated Cardiomyopathy Reveals Numerous Ubiquitously Expressed and Muscle-Specific Genes

Harakaľová, M., Kummeling, G. J. M., Sammani, A., Linschoten, M., Baas, A. F., van der Smagt, J. J., Doevendans, P. A., van Tintelen, J. P., Dooijes, D., Mokrý, M., et al. (2015) · European Journal of Heart Failure · doi:10.1002/ejhf.255 · Cited by 68

Mechanisms and management of the heart in myotonic dystrophy

McNally, E. M., & Sparano, D. M. (2011) · Heart · doi:10.1136/hrt.2010.214197 · Cited by 68

Systematic identification of pathological lamin A interactors

Dittmer, T. A., Sahni, N., Kubben, N., HILL, D. E., Vidal, M., Burgess, R. C., Roukos, V., & Misteli, T. (2014) · Molecular Biology of the Cell · doi:10.1091/mbc.e14-02-0733 · Cited by 68

5′RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy

Christodoulou, D. C., Wakimoto, H., Onoue, K., Eminaga, S., Gorham, J., DePalma, S. R., Herman, D. S., Teekakirikul, P., Conner, D. A., McKean, D. M., et al. (2014) · Journal of Clinical Investigation · doi:10.1172/jci70108 · Cited by 68

Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure Events

Li, Q., Gruner, C., Chan, R. H. M., Care, M. E., Siminovitch, K. A., Williams, L. K., Woo, A., & Rakowski, H. (2014) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000331 · Cited by 67

Guidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy

Fatkin, D. (2011) · Heart Lung and Circulation · doi:10.1016/j.hlc.2011.07.008 · Cited by 65

Effects of Mechanical Stress and Carvedilol in Lamin A/C–Deficient Dilated Cardiomyopathy

Chandar, S., Yeo, L. S., Leimena, C., Tan, J.-C., Xiao, X.-H., Nikolova-Krstevski, V., Yasuoka, Y., Gardiner‐Garden, M., Wu, J., Kesteven, S. H., et al. (2009) · Circulation Research · doi:10.1161/circresaha.109.204388 · Cited by 64

Prognostic Impact of Familial Screening in Dilated Cardiomyopathy

Moretti, M., Merlo, M., Barbati, G., Lenarda, A. D., Brun, F., Pinamonti, B., Gregori, D., Mestroni, L., & Sinagra, G. (2010) · European Journal of Heart Failure · doi:10.1093/eurjhf/hfq093 · Cited by 64

Guidelines for the Diagnosis and Management of Familial Dilated Cardiomyopathy

Fatkin, D. (2007) · Heart Lung and Circulation · doi:10.1016/j.hlc.2006.10.018 · Cited by 64

Escape capture bigeminy: Phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q

Nair, K. M., Pekhletski, R., Harris, L., Care, M. E., Morel, C. F., Farid, T., Backx, P. H., Szabó, E. Z., & Nanthakumar, K. (2012) · Heart Rhythm · doi:10.1016/j.hrthm.2012.06.029 · Cited by 54

Strategies and Challenges to Myocardial Replacement Therapy

Feric, N. T., & Radisic, M. (2016) · Stem Cells Translational Medicine · doi:10.5966/sctm.2015-0288 · Cited by 50

The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNALeu(CUN) and is associated with dilated cardiomyopathy

Grasso, M., Diegoli, M., Brega, A., Campana, C., Tavazzi, L., & Arbustini, E. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200622 · Cited by 49

Genetics and Genomics of Single-Gene Cardiovascular Diseases

Marian, A. J., van Rooij, E., & Roberts, R. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.09.968 · Cited by 48

Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells

Asimaki, A., Protonotarios, A., James, C. A., Chelko, S. P., Tichnell, C., Murray, B. A., Tsatsopoulou, A., Anastasakis, A., Riele, A. S. J. M. T., Kléber, A. G., et al. (2016) · Circulation Arrhythmia and Electrophysiology · doi:10.1161/circep.115.003688 · Cited by 44

2016 ESC and ACC/AHA/HFSA heart failure guideline update — what is new and why is it important?

Jessup, M. L., Marwick, T. H., Ponikowski, P. P., Voors, A. A., & Yancy, C. W. (2016) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2016.134 · Cited by 44

Evaluation of Left Ventricular Enlargement as a Marker of Early Disease in Familial Dilated Cardiomyopathy

Fatkin, D., Yeoh, T., Hayward, C., Benson, V. L., Sheu, A., Richmond, Z., Feneley, M. P., KEOGH, A. M., & Macdonald, P. S. (2011) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.110.958918 · Cited by 44

Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy

Crispell, K. A., Hanson, E. L., Coates, K., Toy, W., & Hershberger, R. E. (2002) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(02)01788-6 · Cited by 40

Quantitative Expression of the Mutated Lamin A/C Gene in Patients With Cardiolaminopathy

Narula, N., Favalli, V., Tarantino, P., Grasso, M., Pilotto, A., Bellazzi, R., Serio, A., Gambarin, F. I., Charron, P., Meder, B., et al. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.05.059 · Cited by 38

Recovery of Cardiac Function in Cardiomyopathy Caused by Titin Truncation

Felkin, L. E., Walsh, R., Ware, J. S., Yacoub, M. H., Birks, E. J., Barton, P. J. R., & Cook, S. A. (2016) · JAMA Cardiology · doi:10.1001/jamacardio.2016.0208 · Cited by 37

Molecular and Cellular Correlates of Cardiac Function in End-Stage DCM

Cordero‐Reyes, A. M., Youker, K. A., Estep, J. D., Torre‐Amione, G., & Nagueh, S. F. (2014) · JACC. Cardiovascular imaging · doi:10.1016/j.jcmg.2013.11.010 · Cited by 36

Early Arrhythmic Events in Idiopathic Dilated Cardiomyopathy

Losurdo, P., Stolfo, D., Merlo, M., Barbati, G., Gobbo, M., Gigli, M., Ramani, F., Pinamonti, B., Zecchin, M., Finocchiaro, G., et al. (2016) · JACC. Clinical electrophysiology · doi:10.1016/j.jacep.2016.05.002 · Cited by 34

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

Truszkowska, G. T., Bilińska, Z. T., Kosińska, J., Śleszycka, J., Rydzanicz, M., Sobieszczańska‐Małek, M., Franaszczyk, M., Bilińska, M., Stawiński, P., Michalak, E., et al. (2015) · BMC Medical Genetics · doi:10.1186/s12881-015-0167-0 · Cited by 33

Obscurin Variants in Patients With Left Ventricular Noncompaction

Rowland, T. J., Graw, S. L., Sweet, M., Gigli, M., Taylor, M. R. G., & Mestroni, L. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.08.052 · Cited by 30

Left Ventricular Dysfunction and Conduction Disturbances in Patients With Myotonic Muscular Dystrophy Type I and II

Tanawuttiwat, T., Wagner, K. R., Tomaselli, G. F., & Nazarian, S. (2016) · JAMA Cardiology · doi:10.1001/jamacardio.2016.4145 · Cited by 30

The role of invasive diagnostics and its impact on the treatment of dilated cardiomyopathy: A systematic review

Gil, K. E., Pawlak, A., Gil, R. J., Frontczak‐Baniewicz, M., & Bil, J. (2016) · Advances in Medical Sciences · doi:10.1016/j.advms.2016.07.001 · Cited by 29

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity

Garcia, J., Tahiliani, J., Johnson, N. M., Aguilar, S. J., de Bernabé, D. B.-V., Daly, A., Decker, E., Haverfield, E. V., Herrera, B., Murillo, L., et al. (2016) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2016.00020 · Cited by 25

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders

Sommerville, R. B., Vincenti, M. G., Winborn, K., Casey, A., Stitziel, N. O., Connolly, A. M., & Mann, D. L. (2016) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2016.06.005 · Cited by 25

Pressure Overload by Transverse Aortic Constriction Induces Maladaptive Hypertrophy in a Titin-Truncated Mouse Model

Zhou, Q., Kesteven, S. H., Wu, J., Aidery, P., Gawaz, M., Gramlich, M., Feneley, M. P., & Harvey, R. P. (2015) · BioMed Research International · doi:10.1155/2015/163564 · Cited by 18

The Case of “Missing Causal Genes” and the Practice of Medicine

Marian, A. J. (2016) · Circulation Research · doi:10.1161/circresaha.116.308830 · Cited by 18

Cardiovascular Magnetic Resonance Determinants of Left Ventricular Noncompaction

Dawson, D. K., McLernon, D. J., Raj, V. J., Maceira, A. M., Prasad, S., Frenneaux, M. P., Pennell, D. J., & Kilner, P. J. (2014) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2014.05.017 · Cited by 14

Screening first-degree relatives of patients with idiopathic dilated cardiomyopathy

Ökten, M. Ş., Tülüce, K., Tülüce, S. Y., Kilic, S., Kemal, H. S., Sayın, A. E., Vuran, Ö., Yagmur, B., Mutlu, I., Şimşek, E., et al. (2016) · Herz · doi:10.1007/s00059-016-4498-1 · Cited by 8

Exercise Prescription for the Athlete with Cardiomyopathy

Saberi, S., & Day, S. M. (2016) · Cardiology Clinics · doi:10.1016/j.ccl.2016.06.008 · Cited by 6

CardioPulse. Francesco Cosentino MD PhD FESC, from Rome to the Karolinska Institute in Stockholm via the Mayo Clinic.

Ozcan, J. (2016) · PubMed · Cited by 1

2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association

Martin, S. S., Aday, A. W., Allen, N. B., Almarzooq, Z., Anderson, C. A. M., Arora, P. K., Avery, C. L., Baker-Smith, C. M., Bansal, N., Beaton, A., et al. (2025) · Circulation · doi:10.1161/cir.0000000000001303 · Cited by 1,284

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

Towbin, J. A., McKenna, W. J., Abrams, D. J., Ackerman, M. J., Calkins, H. G., Darrieux, F., Daubert, J. P., de Chillou, C., DePasquale, E. C., Desai, M. Y., et al. (2019) · Heart Rhythm · doi:10.1016/j.hrthm.2019.05.007 · Cited by 883

The Translational Landscape of the Human Heart

van Heesch, S., Witte, F., Schneider-Lunitz, V., Schulz, J. F., Adami, E., Faber, A. B., Kirchner, M., Maatz, H., Blachut, S., Sandmann, C.-L., et al. (2019) · Cell · doi:10.1016/j.cell.2019.05.010 · Cited by 637

2019 HRS/EHRA/APHRS/LAHRS expert consensus statement on catheter ablation of ventricular arrhythmias

Cronin, E. M., Bogun, F. M., Maury, P., Peichl, P., Chen, M., Namboodiri, N., Aguinaga, L., Leite, L. R., Al‐Khatib, S. M., Anter, E., et al. (2019) · EP Europace · doi:10.1093/europace/euz132 · Cited by 479

2019 HRS/EHRA/APHRS/LAHRS expert consensus statement on catheter ablation of ventricular arrhythmias

Cronin, E. M., Bogun, F. M., Maury, P., Peichl, P., Chen, M., Namboodiri, N., Aguinaga, L., Leite, L. R., Al‐Khatib, S. M., Anter, E., et al. (2019) · Heart Rhythm · doi:10.1016/j.hrthm.2019.03.002 · Cited by 444

Genetic Testing as a Guide for Treatment in Dilated Cardiomyopathies

García-Hernández, S., & Iglesias, L. M. (2022) · Current Cardiology Reports · doi:10.1007/s11886-022-01772-8 · Cited by 10

The Role of Genetics in Risk Stratification Strategy of Dilated Cardiomyopathy

Xintarakou, A., Kariki, O. K., Doundoulakis, I., Αρσένος, Π., Σουλαϊδόπουλος, Σ., Laina, A., Xydis, P., Kordalis, A., Nakas, N., Theofilou, A., et al. (2022) · Reviews in Cardiovascular Medicine · doi:10.31083/j.rcm2309305 · Cited by 4

Genetic testing for dilated and arrhythmogenic cardiomyopathies – A primer for cardiologists

Dillon, J. C., Arora, S., & Kalra, D. K. (2026) · Progress in Cardiovascular Diseases · doi:10.1016/j.pcad.2026.09.002

Genotype, risk, and the future of precision medicine in dilated cardiomyopathy

Khazanie, P., Taylor, M. R. G., & Mestroni, L. (2026) · European Heart Journal - Valvular and Structural Heart Disease · doi:10.1093/ehjvshd/xwag053

Non‐ischaemic dilated cardiomyopathy: recognising the genetic links

Paul, C., Peters, S. A., Perrin, M. J., Fatkin, D., & Amerena, J. V. (2022) · Internal Medicine Journal · doi:10.1111/imj.15921 · Cited by 3