Dilated Cardiomyopathy: Genetic Determinants and Mechanisms
Open accessAbstract
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at risk or with early stage disease, offering the opportunity for early intervention. This review will address diagnosis and management of DCM, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to DCM and their pathogenetic mechanisms. Historically, cardiac morphology has been used to classify cardiomyopathy subtypes. Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of DCM, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Dilated cardiomyopathy is defined by an enlarged and poorly contractile left ventricle and is the major cause of heart failure.
“Dilated cardiomyopathy (DCM) is defined by an enlarged and poorly contractile LV. Genetic or non-genetic causes, including hypertension and valve diseases, may lead to dilated cardiomyopathy. This type of heart disease is the major cause of HF [51,53].”
From Cardiovascular disease models: A game changing paradigm in drug discovery and screening (2019) · cites this paper as [53]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
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 19,618 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 1,667 · see citing works
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 · see citing works
Self-citationGulati, 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 1,177 · see citing works
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 1,161 · see citing works
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 1,098 · see citing works
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 1,068 · see citing works
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 · see citing works
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 · see citing works
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 1,023 · see citing works
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 905 · see citing works
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 899 · see citing works
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 · see citing works
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 · see citing works
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 733 · see citing works
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 697 · see citing works
Self-citationPatient-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 · see citing works
Codd, M., SUGRUE, D. D., Gersh, B. J., & Melton, L. J. (1989) · Circulation · doi:10.1161/01.cir.80.3.564 · Cited by 638 · see citing works
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 · see citing works
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 · see citing works
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 615 · see citing works
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 614 · see citing works
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 · see citing works
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 558 · see citing works
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 · see citing works
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 488 · see citing works
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 · see citing works
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 · see citing works
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 477 · see citing works
Self-citationHackman, 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 471 · see citing works
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 · see citing works
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 · see citing works
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 462 · see citing works
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 · see citing works
Guidelines for the study of familial dilated cardiomyopathies
Mestroni, L. (1999) · European Heart Journal · doi:10.1053/euhj.1998.1145 · Cited by 446 · see citing works
Self-citationFrequency 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 · see citing works
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 432 · see citing works
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 428 · see citing works
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 364 · see citing works
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 · see citing works
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 363 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 324 · see citing works
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 · see citing works
Self-citationLong-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 · see citing works
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 · see citing works
Self-citationGenetic 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 · see citing works
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 282 · see citing works
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 265 · see citing works
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 252 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Self-citationRNA-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 · see citing works
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 217 · see citing works
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 216 · see citing works
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 216 · see citing works
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 · see citing works
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 214 · see citing works
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 211 · see citing works
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 · see citing works
Self-citationIdentification 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 · see citing works
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 197 · see citing works
Wu, W., Muchir, A., Shan, J., Bonne, G., & Worman, H. J. (2010) · Circulation · doi:10.1161/circulationaha.110.970673 · Cited by 191 · see citing works
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 · see citing works
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 · see citing works
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 179 · see citing works
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 178 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 169 · see citing works
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 · see citing works
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 162 · see citing works
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 · see citing works
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 · see citing works
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 159 · see citing works
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 · see citing works
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 155 · see citing works
Self-citationCardiac Titin and Heart Disease
LeWinter, M. M., & Granzier, H. L. M. (2013) · Journal of Cardiovascular Pharmacology · doi:10.1097/fjc.0000000000000007 · Cited by 153 · see citing works
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 · see citing works
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 144 · see citing works
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 · see citing works
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 140 · see citing works
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 · see citing works
Self-citationAetiology 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 133 · see citing works
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 132 · see citing works
Self-citationKusumoto, 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 132 · see citing works
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 · see citing works
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 · see citing works
Self-citationReview 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 · see citing works
Malan, D., Friedrichs, S., Fleischmann, B. K., & Sasse, P. (2011) · Circulation Research · doi:10.1161/circresaha.111.243139 · Cited by 126 · see citing works
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 · see citing works
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 · see citing works
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 120 · see citing works
Self-citationA 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 118 · see citing works
Self-citationPrediction 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 114 · see citing works
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 · see citing works
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 · see citing works
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 112 · see citing works
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 112 · see citing works
Self-citationHasselberg, 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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 103 · see citing works
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 100 · see citing works
Self-citationLMNA 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 · see citing works
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 · see citing works
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 · see citing works
Self-citationRole 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 94 · see citing works
Self-citationWessels, 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 · see citing works
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 · see citing works
Self-citationTitin-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 · see citing works
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 88 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 80 · see citing works
Self-citationIncidence of congestive cardiomyopathy
Torp, A. (1978) · Postgraduate Medical Journal · doi:10.1136/pgmj.54.633.435 · Cited by 78 · see citing works
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 · see citing works
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 75 · see citing works
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 · see citing works
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 · see citing works
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 70 · see citing works
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 · see citing works
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 68 · see citing works
Self-citationMechanisms 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 · see citing works
Self-citationSystematic 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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Self-citationGuidelines 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 · see citing works
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 · see citing works
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 · see citing works
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 49 · see citing works
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 · see citing works
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 45 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Self-citationTruszkowska, 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 · see citing works
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 · see citing works
Self-citationTanawuttiwat, T., Wagner, K. R., Tomaselli, G. F., & Nazarian, S. (2016) · JAMA Cardiology · doi:10.1001/jamacardio.2016.4145 · Cited by 30 · see citing works
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 · see citing works
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 · see citing works
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 23 · see citing works
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 · see citing works
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 16 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Ozcan, J. (2016) · PubMed · Cited by 1 · see citing works
Flagged first, then by citations
1 of the 172 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- [96]MacRae C Taylor MRG Mestroni L Moses JR Ashley EA Wheeler MT Lakdawala NK Hershberger RE Ptaszynski M Sandor V Saunders ME Oliver C Lee PA Judge DP Phase 2 study of a797, an oral, selective p38 mitogen-activated protein kinase inhibitor, in patients with lamin a/c-related dilated cardiomyopathy European heart journal 2016 37 1011
Cited by
Sorted by citations
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 1,206 · see citing works
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 862 · see citing works
Self-citationThe 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 618 · see citing works
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 476 · see citing works
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 438 · see citing works
The pyruvate-lactate axis modulates cardiac hypertrophy and heart failure
Cluntun, A. A., Badolia, R., Lettlová, S., Parnell, K. M., Shankar, T. S., Diakos, N., Olson, K. A., Taleb, I., Tatum, S. M., Berg, J. A., et al. (2020) · Cell Metabolism · doi:10.1016/j.cmet.2020.12.003 · Cited by 345 · see citing works
Heart Failure With Recovered Left Ventricular Ejection Fraction
Wilcox, J. E., Fang, J. C.-T., Margulies, K. B., & Mann, D. L. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.05.075 · Cited by 329 · see citing works
Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy
Gigli, M., Merlo, M., Graw, S. L., Barbati, G., Rowland, T. J., Slavov, D. B., Stolfo, D., Haywood, M. E., Ferro, M. D., Altinier, A., et al. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.06.072 · Cited by 319 · see citing works
Self-citationPalaniappan, L. P., Allen, N. B., Almarzooq, Z., Anderson, C. A. M., Arora, P. K., Avery, C. L., Baker-Smith, C. M., Bansal, N., Currie, M. E., Earlie, R. S., et al. (2026) · Circulation · doi:10.1161/cir.0000000000001412 · Cited by 312 · see citing works
NAD + Metabolism in Cardiac Health, Aging, and Disease
Abdellatif, M., Sedej, S., & Kroemer, G. (2021) · Circulation · doi:10.1161/circulationaha.121.056589 · Cited by 262 · see citing works
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy
Mazzarotto, F., Tayal, U., Buchan, R. J., Midwinter, W., Wilk, A., Whiffin, N., Govind, R., Mazaika, E., de Marvao, A., Dawes, T. J. W., et al. (2020) · Circulation · doi:10.1161/circulationaha.119.037661 · Cited by 259 · see citing works
Strianese, O., Rizzo, F. M., Ciccarelli, M., Galasso, G., D’Agostino, Y., Salvati, A., Giudice, C. D., Tesorio, P., & Rusciano, M. R. (2020) · Genes · doi:10.3390/genes11070747 · Cited by 258 · see citing works
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies
Reichart, D., Lindberg, E. L., Maatz, H., Miranda, A. M. A., Viveiros, A., Shvetsov, N., Gärtner, A., Nadelmann, E. R., Lee, M., Kanemaru, K., et al. (2022) · Science · doi:10.1126/science.abo1984 · Cited by 240 · see citing works
Dilated cardiomyopathy: from epidemiologic to genetic phenotypes
Reichart, D., Magnussen, C., Zeller, T., & Blankenberg, S. (2019) · Journal of Internal Medicine · doi:10.1111/joim.12944 · Cited by 238 · see citing works
Resident cardiac macrophages mediate adaptive myocardial remodeling
Wong, N. R., Mohan, J., Kopecky, B. J., Guo, S., Du, L., Leid, J. M., Feng, G., Lokshina, I., Dmytrenko, O., Luehmann, H. P., et al. (2021) · Immunity · doi:10.1016/j.immuni.2021.07.003 · Cited by 229 · see citing works
Cardiovascular disease models: A game changing paradigm in drug discovery and screening
Savoji, H., Mohammadi, M. H., Rafatian, N., Toroghi, M. K., Wang, E. Y., Zhao, Y., Korolj, A., Ahadian, S., & Radisic, M. (2019) · Biomaterials · doi:10.1016/j.biomaterials.2018.09.036 · Cited by 223 · see citing works
Genetics of dilated cardiomyopathy: practical implications for heart failure management
Rosenbaum, A. N., Agre, K. E., & Pereira, N. L. (2019) · Nature Reviews Cardiology · doi:10.1038/s41569-019-0284-0 · Cited by 219 · see citing works
Augusto, J. B., Eirós, R., Nakou, E. S., Ferreira, S. M., Treibel, T. A., Captur, G., Akhtar, M. M., Protonotarios, A., Gossios, T. D., Savvatis, K., et al. (2019) · European Heart Journal - Cardiovascular Imaging · doi:10.1093/ehjci/jez188 · Cited by 214 · see citing works
Colpaert, R. M. W., & Calore, M. (2019) · Cells · doi:10.3390/cells8070737 · Cited by 198 · see citing works
Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy
Nishiyama, T., Zhang, Y., Cui, M., Li, H. Z., Sanchez‐Ortiz, E., McAnally, J., Tan, W. H., Kim, J., Chen, K., Xu, L., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.ade1633 · Cited by 169 · see citing works
Physiology of intracellular calcium buffering
Eisner, D. A., Neher, E., Taschenberger, H., & Smith, G. L. (2023) · Physiological Reviews · doi:10.1152/physrev.00042.2022 · Cited by 158 · see citing works
Phenotypic Refinement of Heart Failure in a National Biobank Facilitates Genetic Discovery
Aragam, K. G., Chaffin, M. D., Levinson, R. T., McDermott, G. C., Choi, S. H., Shoemaker, M. B., Haas, M. E., Weng, L.-C. C., Lindsay, M. E., Smith, J. G., et al. (2019) · Circulation · doi:10.1161/circulationaha.118.035774 · Cited by 153 · see citing works
Gene Therapy for the Heart Lessons Learned and Future Perspectives
Cannata, A. N., Ali, H., Sinagra, G., & Giacca, M. (2020) · Circulation Research · doi:10.1161/circresaha.120.315855 · Cited by 153 · see citing works
Chen, S. N., Lombardi, R., Karmouch, J. L., Tsai, J.-Y., Czernuszewicz, G., Taylor, M. R. G., Mestroni, L., Coarfa, C., Gurha, P., & Marian, A. J. (2019) · Circulation Research · doi:10.1161/circresaha.118.314238 · Cited by 152 · see citing works
Self-citationBraunwald, E. (2017) · Circulation Research · doi:10.1161/circresaha.117.311812 · Cited by 150 · see citing works
Charron, P., Elliot, P. M., Gimeno, J. R., Caforio, A. L. P., Kaski, J. P., Tavazzi, L., Tendera, M., Maupain, C., Laroche, C., Rubiś, P., et al. (2018) · European Heart Journal · doi:10.1093/eurheartj/ehx819 · Cited by 146 · see citing works
Cardiovascular toxicity and mechanism of bisphenol A and emerging risk of bisphenol S
Zhang, Y., Shan, C., Wang, Y., Qian, L.-L., Jia, D., Zhang, Y., Hao, X., & Xu, H. (2020) · The Science of The Total Environment · doi:10.1016/j.scitotenv.2020.137952 · Cited by 143 · see citing works
An overview of the immune mechanisms of viral myocarditis
Lasrado, N., & Reddy, J. (2020) · Reviews in Medical Virology · doi:10.1002/rmv.2131 · Cited by 140 · see citing works
Targeting the sarcomere in inherited cardiomyopathies
Lehman, S. J., Crocini, C., & Leinwand, L. A. (2022) · Nature Reviews Cardiology · doi:10.1038/s41569-022-00682-0 · Cited by 133 · see citing works
Cheedipudi, S. M., Matkovich, S. J., Coarfa, C., Hu, X., Robertson, M. J., Sweet, M., Taylor, M. R. G., Mestroni, L., Cleveland, J. C., Willerson, J. T., et al. (2019) · Circulation Research · doi:10.1161/circresaha.118.314177 · Cited by 129 · see citing works
Self-citationTharp, C. A., Haywood, M. E., Sbaizero, O., Taylor, M. R. G., & Mestroni, L. (2019) · Frontiers in Physiology · doi:10.3389/fphys.2019.01436 · Cited by 128 · see citing works
Self-citationAutophagy in health and disease: From molecular mechanisms to therapeutic target
Lu, G. X., Wang, Y., Shi, Y. P., Zhang, Z., Huang, C., He, W., Wang, C., & Shen, H. (2022) · MedComm · doi:10.1002/mco2.150 · Cited by 127 · see citing works
The Broad Spectrum of LMNA Cardiac Diseases: From Molecular Mechanisms to Clinical Phenotype
Crasto, S., My, I., & Pasquale, E. D. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.00761 · Cited by 122 · see citing works
Ahmad, F., McNally, E. M., Ackerman, M. J., Baty, L., Day, S. M., Kullo, I. J., Madueme, P. C., Maron, M. S., Martinez, M. W., Salberg, L. R., et al. (2019) · Circulation Genomic and Precision Medicine · doi:10.1161/hcg.0000000000000054 · Cited by 121 · see citing works
Self-citationAnabolic-androgenic steroids and cardiovascular risk
Liu, J., & Wu, Y. (2019) · Chinese Medical Journal · doi:10.1097/cm9.0000000000000407 · Cited by 118 · see citing works
The Electrocardiogram in the Diagnosis and Management of Patients with Dilated Cardiomyopathy
Finocchiaro, G., Merlo, M., Sheikh, N., Angelis, G. D., Papadakis, M., Olivotto, I., Rapezzi, C., Carr‐White, G., Sharma, S., Mestroni, L., et al. (2020) · European Journal of Heart Failure · doi:10.1002/ejhf.1815 · Cited by 111 · see citing works
Self-citationDilated cardiomyopathy and chronic cardiac inflammation: Pathogenesis, diagnosis and therapy
Harding, D., Chong, M. H. A., Lahoti, N., Bigogno, C. M., Prema, R., MOHIDDIN, S. A., & Marelli‐Berg, F. M. (2022) · Journal of Internal Medicine · doi:10.1111/joim.13556 · Cited by 108 · see citing works
Bondue, A., Arbustini, E., Bianco, A., Ciccarelli, M., Dawson, D. K., Rosa, M. D., Hamdani, N., Hilfiker‐Kleiner, D., Meder, B., Leite-Moreira, A. F., et al. (2018) · Cardiovascular Research · doi:10.1093/cvr/cvy122 · Cited by 103 · see citing works
Current understanding of fibrosis in genetic cardiomyopathies
Eijgenraam, T. R., Silljé, H. H. W., & de Boer, R. A. (2019) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2019.09.003 · Cited by 102 · see citing works
Shah, R. A., Asatryan, B., Dabbagh, G. S., Aung, N., Khanji, M. Y., Lopes, L. R., van Duijvenboden, S., Holmes, A. M., Muser, D., Landstrom, A. P., et al. (2022) · Circulation · doi:10.1161/circulationaha.121.058143 · Cited by 102 · see citing works
Pathophysiology of dilated cardiomyopathy: from mechanisms to precision medicine
Gigli, M., Stolfo, D., Merlo, M., Sinagra, G., Taylor, M. R. G., & Mestroni, L. (2024) · Nature Reviews Cardiology · doi:10.1038/s41569-024-01074-2 · Cited by 98 · see citing works
Self-citationPrecision Medicine in the Management of Dilated Cardiomyopathy
Fatkin, D., Huttner, I. G., Kovacic, J. C., Seidman, J. G., & Seidman, C. E. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2019.10.011 · Cited by 96 · see citing works
Natural History of MYH7-Related Dilated Cardiomyopathy
de Frutos, F., Ochoa, J. P., Peñalver, M. N., Baas, A. F., Bjerre, J. V., Zorio, E., Méndez, I., Lorca, R., Verdonschot, J. A. J., García-Granja, P. E., et al. (2022) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2022.07.023 · Cited by 96 · see citing works
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. (2020) · Journal of Interventional Cardiac Electrophysiology · doi:10.1007/s10840-019-00663-3 · Cited by 95 · see citing works
Inflammation in myocardial disease: From myocarditis to dilated cardiomyopathy
Imanaka‐Yoshida, K. (2019) · Pathology International · doi:10.1111/pin.12868 · Cited by 93 · see citing works
Sharma, S., Bhattarai, S., Ara, H., Sun, G. E. C., Clair, D. K. S., Bhuiyan, M. S., Kevil, C. G., Watts, M. N., Dominic, P. S., Shimizu, T., et al. (2020) · Redox Biology · doi:10.1016/j.redox.2020.101740 · Cited by 90 · see citing works
Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression
Gacita, A. M., Fullenkamp, D. E., Ohiri, J. C., Pottinger, T. D., Puckelwartz, M. J., Nóbrega, M. A., & McNally, E. M. (2021) · Circulation · doi:10.1161/circulationaha.120.050432 · Cited by 90 · see citing works
Self-citationSchmid, M., & Toepfer, C. N. (2021) · Biology Open · doi:10.1242/bio.057646 · Cited by 90 · see citing works
Arrhythmias as Presentation of Genetic Cardiomyopathy
Laws, J. L., Lancaster, M. C., Shoemaker, M. B., Stevenson, W. G., Hung, R. R., Wells, Q. S., Brinkley, D. M., Hughes, S. G., Anderson, K. C., Roden, D. M., et al. (2022) · Circulation Research · doi:10.1161/circresaha.122.319835 · Cited by 90 · see citing works
Kim, S. Y., Zhang, X., Schiattarella, G. G., Altamirano, F. J., Ramos, T. A. R., French, K. M., Jiang, N., Szweda, P. A., Evers, B. M., May, H. I., et al. (2020) · Circulation · doi:10.1161/circulationaha.120.047239 · Cited by 89 · see citing works
Tenascin-C in cardiac disease: a sophisticated controller of inflammation, repair, and fibrosis
Imanaka‐Yoshida, K., Tawara, I., & Yoshida, T. (2020) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00353.2020 · Cited by 88 · see citing works
The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy
Hershberger, R. E., Cowan, J. R., Jordan, E., & Kinnamon, D. D. (2021) · Circulation Research · doi:10.1161/circresaha.121.318157 · Cited by 87 · see citing works
Law, M. L., Cohen, H., Martin, A. A., Angulski, A. B. B., & Metzger, J. M. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9020520 · Cited by 86 · see citing works
Screening for dilated cardiomyopathy in dogs
Wess, G. (2021) · Journal of Veterinary Cardiology · doi:10.1016/j.jvc.2021.09.004 · Cited by 83 · see citing works
Towards precision medicine in heart failure
Weldy, C. S., & Ashley, E. A. (2021) · Nature Reviews Cardiology · doi:10.1038/s41569-021-00566-9 · Cited by 81 · see citing works
Prevalence and Cumulative Risk of Familial Idiopathic Dilated Cardiomyopathy
Huggins, G. S., Kinnamon, D. D., Haas, G. J., Jordan, E., Hofmeyer, M. R., Kransdorf, E. P., Ewald, G. A., Morris, A. A., OWENS, A. T., Lowes, B. D., et al. (2022) · JAMA · doi:10.1001/jama.2021.24674 · Cited by 78 · see citing works
BET bromodomain inhibition attenuates cardiac phenotype in myocyte-specific lamin A/C–deficient mice
Auguste, G., Rouhi, L., Matkovich, S. J., Coarfa, C., Robertson, M. J., Czernuszewicz, G., Gurha, P., & Marian, A. J. (2020) · Journal of Clinical Investigation · doi:10.1172/jci135922 · Cited by 77 · see citing works
Clinical application of CMR in cardiomyopathies: evolving concepts and techniques
Merlo, M., Gagno, G., Baritussio, A., Bauce, B., Biagini, E., Canepa, M., Cipriani, A., Castelletti, S., Dellegrottaglie, S., Guaricci, A. I., et al. (2022) · Heart Failure Reviews · doi:10.1007/s10741-022-10235-9 · Cited by 77 · see citing works
Vilariño‐Güell, C., Zimprich, A. A., Boneschi, F. M., Herculano, B., Wang, Z., Matesanz, F., Urcelay, E., Vandenbroeck, K., Leyva, L., Gris, D., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008180 · Cited by 76 · see citing works
Risk Stratification for Sudden Cardiac Death in Non-Ischaemic Dilated Cardiomyopathy
Akhtar, M. M., & Elliot, P. M. (2019) · Current Cardiology Reports · doi:10.1007/s11886-019-1236-3 · Cited by 76 · see citing works
Hearts apart: sex differences in cardiac remodeling in health and disease
Martin, T. G., & Leinwand, L. A. (2024) · Journal of Clinical Investigation · doi:10.1172/jci180074 · Cited by 75 · see citing works
Auguste, G. E., Gurha, P., Lombardi, R., Coarfa, C., Willerson, J. T., & Marian, A. J. (2018) · Circulation Research · doi:10.1161/circresaha.117.312052 · Cited by 72 · see citing works
Human Engineered Heart Tissue Models for Disease Modeling and Drug Discovery
Tani, H., & Tohyama, S. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.855763 · Cited by 70 · see citing works
Genetics of Dilated Cardiomyopathy
Eldemire, R., Mestroni, L., & Taylor, M. R. G. (2023) · Annual Review of Medicine · doi:10.1146/annurev-med-052422-020535 · Cited by 70 · see citing works
Self-citationDilated cardiomyopathy myosin mutants have reduced force-generating capacity
Ujfalusi, Z., Vera, C. D., Mijailovich, S. M., Svicevic, M. R., Yu, E. C., Kawana, M., Ruppel, K. M., Spudich, J. A., Geeves, M. A., & Leinwand, L. A. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.001938 · Cited by 70 · see citing works
Novel Therapies for Prevention and Early Treatment of Cardiomyopathies
Repetti, G. G., Toepfer, C. N., Seidman, J. G., & Seidman, C. E. (2019) · Circulation Research · doi:10.1161/circresaha.119.313569 · Cited by 70 · see citing works
Cardiac myosin contraction and mechanotransduction in health and disease
Barrick, S. K., & Greenberg, M. J. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.101297 · Cited by 69 · see citing works
Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy
Perea‐Gil, I., Seeger, T., Bruyneel, A. A. N., Termglinchan, V., Monte, E., Lim, E. W., Vadgama, N., Furihata, T., Gavidia, A. A., Ataam, J. A., et al. (2022) · European Heart Journal · doi:10.1093/eurheartj/ehac305 · Cited by 69 · see citing works
McGurk, K. A., Zhang, X., Theotokis, P. I., Thomson, K. L., Harper, A. R., Buchan, R. J., Mazaika, E., Ormondroyd, E., Wright, W. T., Macaya, D., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.08.003 · Cited by 69 · see citing works
iPSC Modeling of RBM20-Deficient DCM Identifies Upregulation of RBM20 as a Therapeutic Strategy
Briganti, F., Sun, H., Wei, W., Wu, J., Zhu, C., Liss, M., Karakikes, I., Rego, S., Cipriano, A., Snyder, M., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108117 · Cited by 68 · see citing works
Fenix, A. M., Miyaoka, Y., Bertero, A., Blue, S. M., Spindler, M. J., Tan, K. K. B., Pérez-Bermejo, J. A., Chan, A. H., Mayerl, S. J., Nguyen, T., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-26623-y · Cited by 67 · see citing works
Sun, X., Duan, J., Gong, C., Feng, Y., Hu, J., Gu, R., & Xu, B. (2022) · Journal of the American Heart Association · doi:10.1161/jaha.122.025266 · Cited by 67 · see citing works
Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy
Stroud, M. J. (2018) · Biophysical Reviews · doi:10.1007/s12551-018-0431-6 · Cited by 66 · see citing works
Translation of New and Emerging Therapies for Genetic Cardiomyopathies
Helms, A. S., Thompson, A. D., & Day, S. M. (2021) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2021.07.012 · Cited by 62 · see citing works
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
Cuello, F., Knaust, A. E., Saleem, U., Loos, M., Raabe, J., Mosqueira, D., Laufer, S. D., Schweizer, M., van der Kraak, P. H., Flenner, F., et al. (2021) · EMBO Molecular Medicine · doi:10.15252/emmm.202013074 · Cited by 61 · see citing works
Li, Y., Chang, J., He, M., Wang, H., Luo, D., Li, F., Li, J., & Ran, L. (2021) · Journal of Oncology · doi:10.1155/2021/2939162 · Cited by 61 · see citing works
Cresci, S., Pereira, N. L., Ahmad, F., Byku, M., Fuentes, L. D. L., Lanfear, D. E., Reilly, C. M., OWENS, A. T., & Wolf, M. J. (2019) · Circulation Genomic and Precision Medicine · doi:10.1161/hcg.0000000000000058 · Cited by 60 · see citing works
Tang, Y., Feng, M., Su, Y., Ma, T., Zhang, H., Wu, H., Wang, X., Shi, S., Zhang, Y., Xu, Y., et al. (2023) · Circulation · doi:10.1161/circulationaha.123.064121 · Cited by 60 · see citing works
Clippinger, S. R., Cloonan, P. E., Greenberg, L., Ernst, M., Stump, W. T., & Greenberg, M. J. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1910962116 · Cited by 59 · see citing works
Epidemiology of cardiomyopathies and incident heart failure in a population-based cohort study
Brownrigg, J. R. W., Leo, V., Rose, J., Low, E., Richards, S., Carr‐White, G., & Elliot, P. M. (2021) · Heart · doi:10.1136/heartjnl-2021-320181 · Cited by 58 · see citing works
Modern Imaging Techniques in Cardiomyopathies
Jan, M. F., & Tajik, A. J. (2017) · Circulation Research · doi:10.1161/circresaha.117.309600 · Cited by 58 · see citing works
Building evidence and measuring clinical outcomes for genomic medicine
Peterson, J. F., Roden, D. M., Orlando, L. A., Ramirez, A. H., Mensah, G. A., & Williams, M. S. (2019) · The Lancet · doi:10.1016/s0140-6736(19)31278-4 · Cited by 58 · see citing works
FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy
Brun, F., Gigli, M., Graw, S. L., Judge, D. P., Merlo, M., Murray, B. A., Calkins, H. G., Sinagra, G., Taylor, M. R. G., Mestroni, L., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106394 · Cited by 58 · see citing works
Self-citationRecent Findings Related to Cardiomyopathy and Genetics
Yamada, T., & Nomura, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222212522 · Cited by 57 · see citing works
Risk-Based Approach for the Prediction and Prevention of Heart Failure
Sinha, A., Gupta, D. K., Yancy, C. W., Shah, S. J., Rasmussen‐Torvik, L. J., McNally, E. M., Greenland, P., Lloyd‐Jones, D. M., & Khan, S. S. (2021) · Circulation Heart Failure · doi:10.1161/circheartfailure.120.007761 · Cited by 56 · see citing works
Self-citationGenetics of Dilated Cardiomyopathy: Clinical Implications
Paldino, A., Angelis, G. D., Merlo, M., Gigli, M., Ferro, M. D., Severini, G. M., Mestroni, L., & Sinagra, G. (2018) · Current Cardiology Reports · doi:10.1007/s11886-018-1030-7 · Cited by 56 · see citing works
Self-citationPettinato, A. M., Ladha, F. A., Mellert, D. J., Legere, N., Cohn, R. L., Romano, R., Thakar, K., Chen, Y., & Hinson, J. T. (2020) · Circulation · doi:10.1161/circulationaha.120.047999 · Cited by 56 · see citing works
hiPSC-Derived Cardiac Tissue for Disease Modeling and Drug Discovery
Li, J., Hua, Y., Miyagawa, S., Zhang, J., Li, L., Liu, L., & Sawa, Y. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21238893 · Cited by 54 · see citing works
Genetics of Cardiomyopathy: Clinical and Mechanistic Implications for Heart Failure
Kim, K., & Pereira, N. L. (2021) · Korean Circulation Journal · doi:10.4070/kcj.2021.0154 · Cited by 54 · see citing works
Jurgens, S. J., Rämö, J. T., Kramarenko, D. R., Wijdeveld, L. F. J. M., Haas, J., Chaffin, M. D., Garnier, S., Gaziano, L., Weng, L.-C. C., Lipov, A., et al. (2024) · Nature Genetics · doi:10.1038/s41588-024-01975-5 · Cited by 54 · see citing works
Wilcox, J. E., & Hershberger, R. E. (2018) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000000512 · Cited by 54 · see citing works
Familial Dilated Cardiomyopathy
Peters, S. A., Johnson, R., Birch, S. C. M., Zentner, D., Hershberger, R. E., & Fatkin, D. (2019) · Heart Lung and Circulation · doi:10.1016/j.hlc.2019.11.018 · Cited by 53 · see citing works
Tenascin-C in Heart Diseases—The Role of Inflammation
Imanaka‐Yoshida, K. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22115828 · Cited by 52 · see citing works
Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy
Khan, R. S., Pahl, E., Dellefave‐Castillo, L., Rychlik, K., Ing, A., Yap, K. L., Brew, C., Johnston, J. R., McNally, E. M., & Webster, G. (2021) · Journal of the American Heart Association · doi:10.1161/jaha.121.022854 · Cited by 50 · see citing works
Self-citationThin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics
Keyt, L. K., Duran, J. M., Bui, Q. M., Chen, C., Miyamoto, M. I., Enciso, J. S., Tardiff, J. C., & ADLER, E. D. (2022) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.972301 · Cited by 50 · see citing works
Recent advancements and applications of deep learning in heart failure: Α systematic review
Πετμεζάς, Γ., Papageorgiou, V. Ε., Vassilikos, V. P., Pagourelias, E. D., Tsaklidis, G. M., Katsaggelos, A. K., & Maglaveras, N. (2024) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2024.108557 · Cited by 50 · see citing works
Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies
Fatkin, D., Calkins, H. G., Elliot, P. M., James, C. A., Peters, S. A., & Kovacic, J. C. (2021) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.12.072 · Cited by 49 · see citing works
Accurate Classification of Non-ischemic Cardiomyopathy
Wang, Y., Jia, H., & Song, J. (2023) · Current Cardiology Reports · doi:10.1007/s11886-023-01944-0 · Cited by 49 · see citing works
Spracklen, T. F., Chakafana, G., Schwartz, P. J., Kotta, M., Shaboodien, G., Ntusi, N., & Sliwa, K. S. (2021) · Genes · doi:10.3390/genes12010103 · Cited by 48 · see citing works
Ghorayeb, N., Stein, R., Daher, D. J., da Silveira, A. D., Ritt, L. E. F., dos Santos, D. F. P., Sierra, A., Herdy, A. H., de Araújo, C. G. S., Colombo, C. S. S. D. S., et al. (2019) · Arquivos Brasileiros de Cardiologia · doi:10.5935/abc.20190048 · Cited by 48 · see citing works
- Authors
- McNally, E. M., & Mestroni, L.
- Affiliations
- Northwestern University (US)
- Venue
- Circulation Research
- Published
- 2017-09-15
- Volume
- 121
- Issue
- 7
- Pages
- 731-748
- ISSN
- 0009-7330 (ISSN-L)
- 1524-4571
- PMC
- PMC5626020
- OpenAlex
- W2755193453
- Cited by
- 786
- References
- 172
- Citations by year
- 2026: 63 · 2025: 89 · 2024: 93 · 2023: 123 · 2022: 89 · 2021: 105 · 2020: 95 · 2019: 79 · 2018: 43 · 2017: 4
- FWCI
- 8.52
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Circulation Research (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health (UL1TR001422, UL1TR001082)
- National Heart, Lung, and Blood Institute (R01HL122109, R01HL116906, R01HL147064, R01HL128075, R01HL061322, R01HL069071)
- National Center for Advancing Translational Sciences
- 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
- dilated cardiomyopathy, non-ischemic cardiomyopathy, genetic testing, gene panel, cascade testing, arrhythmia risk, prognosis, genetic variants, pathophysiological mechanisms, cardiac morphology, early intervention
- MeSH terms
- Animals, Biopsy, Cardiomyopathy, Dilated, DNA Mutational Analysis, Genetic Markers, Humans, Mutation, Myocardium, Phenotype, Predictive Value of Tests, Prognosis, Risk Factors, Ventricular Function, Risk Assessment, Genetic Predisposition to Disease, Molecular Diagnostic Techniques, Cardiac Imaging Techniques
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
