The DOI matches its Crossref record, with a small difference in title or year; 251 of the 252 references it cites were found in a registry or an index.
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Open accessAbstract
Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes and a nondilated left ventricle with preserved or increased ejection fraction. It is commonly asymmetrical with the most severe hypertrophy involving the basal interventricular septum. Left ventricular outflow tract obstruction is present at rest in about one third of the patients and can be provoked in another third. The histological features of HCM include myocyte hypertrophy and disarray, as well as interstitial fibrosis. The hypertrophy is also frequently associated with left ventricular diastolic dysfunction. In the majority of patients, HCM has a relatively benign course. However, HCM is also an important cause of sudden cardiac death, particularly in adolescents and young adults. Nonsustained ventricular tachycardia, syncope, a family history of sudden cardiac death, and severe cardiac hypertrophy are major risk factors for sudden cardiac death. This complication can usually be averted by implantation of a cardioverter-defibrillator in appropriate high-risk patients. Atrial fibrillation is also a common complication and is not well tolerated. Mutations in over a dozen genes encoding sarcomere-associated proteins cause HCM. MYH7 and MYBPC3 , encoding β-myosin heavy chain and myosin-binding protein C, respectively, are the 2 most common genes involved, together accounting for ≈50% of the HCM families. In ≈40% of HCM patients, the causal genes remain to be identified. Mutations in genes responsible for storage diseases also cause a phenotype resembling HCM (genocopy or phenocopy). The routine applications of genetic testing and preclinical identification of family members represents an important advance. The genetic discoveries have enhanced understanding of the molecular pathogenesis of HCM and have stimulated efforts designed to identify new therapeutic agents.
Overview
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
Verification
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“This clinical variability can, in part, be explained by the influence of modifiable cardiometabolic risk factors, such as obesity, diabetes, and hypertension [6].”
From Association of GLP-1 receptor agonist use with cardiovascular outcomes in patients with non-obstructive hypertrophic cardiomyopathy (2026) · cites this paper as [6]
Experimental — accuracy not yet measuredIn the citing paper
“Hypertrophic cardiomyopathy (HCM) is characterized by cardiac hypertrophy, a non-dilated left ventricle (LV), and a normal or increased EF.”
From Cardiovascular disease models: A game changing paradigm in drug discovery and screening (2019) · cites this paper as [52]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
A global reference for human genetic variation
The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature · doi:10.1038/nature15393 · Cited by 18,247
A map of human genome variation from population-scale sequencing.
The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
Authors/Task Force members, Elliott, P. M., Anastasakis, A., Borger, M. A., Borggrefe, M., Cecchi, F., Charron, P., Hagege, A. A., Lafont, A., Limongelli, G., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/ehu284 · Cited by 4,332
Prevalence of Hypertrophic Cardiomyopathy in a General Population of Young Adults
Maron, B. J., Gardin, J. M., Flack, J. M., Gidding, S. S., Kurosaki, T., & Bild, D. E. (1995) · Circulation · doi:10.1161/01.cir.92.4.785 · Cited by 2,274
Sudden Deaths in Young Competitive Athletes
Maron, B. J., Doerer, J. J., Haas, T. S., Tierney, D. M., & Mueller, F. O. (2009) · Circulation · doi:10.1161/circulationaha.108.804617 · Cited by 2,099
Sudden Death in Young Competitive Athletes: Clinical, Demographic, and Pathological Profiles
Maron, B. J. (1996) · JAMA · doi:10.1001/jama.1996.03540030033028 · Cited by 1,693
New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy
Semsarian, C., Ingles, J., Maron, M. S., & Maron, B. J. (2015) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.01.019 · Cited by 1,405
Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., & Seidman, J. G. (1990) · Cell · doi:10.1016/0092-8674(90)90274-i · Cited by 1,380
Richard, P., Charron, P., Carrier, L., Ledeuil, C., Cheav, T., Pichereau, C., Benaiche, A., Isnard, R., Dubourg, O., Burban, M., et al. (2003) · Circulation · doi:10.1161/01.cir.0000066323.15244.54 · Cited by 1,276
O'Mahony, C., Jichi, F., Pavlou, M., Monserrat, L., Anastasakis, A., Rapezzi, C., Biagini, E., Gimeno, J. R., Limongelli, G., McKenna, W. J., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/eht439 · Cited by 1,251
Research works printed but not linked: 2
- 10.1161/01.CIR.104.3.317 · DOI
- BROCK R. Functional obstruction of the left ventricle (acquired aortic subvalvar stenosis). Guys Hosp Rep. 1959;108:126–143.
Cited by
Sorted by citations
Mechanisms of physiological and pathological cardiac hypertrophy
Nakamura, M., & Sadoshima, J. (2018) · Nature Reviews Cardiology · doi:10.1038/s41569-018-0007-y · Cited by 1,709
Olivotto, I., Oreziak, A., Barriales-Villa, R., Abraham, T. P., Masri, A., Garcia-Pavia, P., Saberi, S., Lakdawala, N. K., Wheeler, M. T., Owens, A., et al. (2020) · The Lancet · doi:10.1016/s0140-6736(20)31792-x · Cited by 1,296
Self-citationOmmen, S. R., Mital, S. R., Burke, M. A., Day, S. M., Deswal, A. M., Elliot, P. M., Evanovich, L. L., Hung, J., Joglar, J. A., Kantor, P. F., et al. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.08.044 · Cited by 997
Ommen, S. R., Ho, C. Y., Asif, I. M., Balaji, S., Burke, M. A., Day, S. M., Dearani, J. A., Epps, K. C., Evanovich, L., Ferrari, V. A., et al. (2024) · Circulation · doi:10.1161/cir.0000000000001250 · Cited by 807
2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy
Ommen, S. R., Mital, S., Burke, M. A., Day, S. M., Deswal, A., Elliott, P., Evanovich, L. L., Hung, J., Joglar, J. A., Kantor, P., et al. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.08.045 · Cited by 643
2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy
Ommen, S. R., Mital, S. R., Burke, M. A., Day, S. M., Deswal, A. M., Elliot, P. M., Evanovich, L. L., Hung, J., Joglar, J. A., Kantor, P. F., et al. (2020) · Circulation · doi:10.1161/cir.0000000000000937 · Cited by 654
Organ and tissue fibrosis: Molecular signals, cellular mechanisms and translational implications
Weiskirchen, R., Weiskirchen, S., & Tacke, F. (2018) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2018.06.003 · Cited by 567
2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy
Ommen, S. R., Ho, C. Y., Asif, I. M., Balaji, S., Burke, M. A., Day, S. M., Dearani, J. A., Epps, K., Evanovich, L., Ferrari, V. A., et al. (2024) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2024.02.014 · Cited by 425
Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy
Ho, C. Y., Mealiffe, M. E., Bach, R. G., Bhattacharya, M., Choudhury, L., Edelberg, J. M., Hegde, S. M., Jacoby, D. L., Lakdawala, N. K., Lester, S. J., et al. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.03.064 · Cited by 359
Self-citationAltered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy
Ranjbarvaziri, S., Kooiker, K. B., Ellenberger, M., Fajardo, G., Zhao, M., Roest, A. S. V., Woldeyes, R. A., Koyano, T. K., Fong, R., Ma, N., et al. (2021) · Circulation · doi:10.1161/circulationaha.121.053575 · Cited by 314
Mavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy
Heitner, S. B., Jacoby, D. L., Lester, S. J., OWENS, A. T., Wang, A., Zhang, D., Lambing, J. L., Lee, J., Semigran, M. J., & Sehnert, A. J. (2019) · Annals of Internal Medicine · doi:10.7326/m18-3016 · Cited by 307
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
Kingdom, R., & Wright, C. F. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.920390 · Cited by 326
Epidemiology of the inherited cardiomyopathies
McKenna, W. J., & Judge, D. P. (2020) · Nature Reviews Cardiology · doi:10.1038/s41569-020-0428-2 · Cited by 261
Molecular Genetic Basis of Hypertrophic Cardiomyopathy
Marian, A. J. (2021) · Circulation Research · doi:10.1161/circresaha.121.318346 · Cited by 250
Self-citationSaberi, S., Cardim, N., Yamani, M., Schulz-Menger, J., Li, W., Florea, V., Sehnert, A. J., Kwong, R. Y., Jerosch-Herold, M., Masri, A., et al. (2021) · Circulation · doi:10.1161/circulationaha.120.052359 · Cited by 244
Ciarambino, T., Menna, G., Sansone, G., & Giordano, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22147722 · Cited by 250
Spertus, J. A., Fine, J. T., Elliott, P., Ho, C. Y., Olivotto, I., Saberi, S., Li, W., Dolan, C., Reaney, M., Sehnert, A. J., et al. (2021) · The Lancet · doi:10.1016/s0140-6736(21)00763-7 · Cited by 220
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
Paik, D. T., Chandy, M., & Wu, J. C. (2019) · Pharmacological Reviews · doi:10.1124/pr.116.013003 · Cited by 219
Hegde, S. M., Lester, S. J., Solomon, S. D., Michels, M., Elliot, P. M., Nagueh, S. F., Choudhury, L., Zemánek, D., Zwas, D. R., Jacoby, D. L., et al. (2021) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2021.09.1381 · Cited by 197
Hypertrophic Cardiomyopathy: An Overview of Genetics and Management
Teekakirikul, P., Zhu, W., Huang, H. C., & Fung, E. (2019) · Biomolecules · doi:10.3390/biom9120878 · Cited by 191
Chuang, C.-Y., Collibee, S. E., Ashcraft, L., Wang, W., Wal, M. V., Wang, X., Hwee, D. T., Wu, Y., Wang, J., Chin, E. R., et al. (2021) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.1c01290 · Cited by 185
Base editing correction of hypertrophic cardiomyopathy in human cardiomyocytes and humanized mice
Chai, A. C., Cui, M., Chemello, F., Li, H., Chen, K., Tan, W., Atmanli, A., McAnally, J. R., Zhang, Y., Xu, L., et al. (2023) · Nature Medicine · doi:10.1038/s41591-022-02176-5 · Cited by 184
Hypertrophic Obstructive Cardiomyopathy
Nishimura, R. A., Seggewiß, H., & Schaff, H. V. (2017) · Circulation Research · doi:10.1161/circresaha.116.309348 · Cited by 182
Association of Obesity With Adverse Long-term Outcomes in Hypertrophic Cardiomyopathy
Fumagalli, C., Maurizi, N., Day, S. M., Ashley, E. A., Michels, M., Colan, S. D., Jacoby, D. L., Marchionni, N., Vincent-Tompkins, J., Ho, C. Y., et al. (2019) · JAMA Cardiology · doi:10.1001/jamacardio.2019.4268 · Cited by 163
Mavacamten: a first-in-class myosin inhibitor for obstructive hypertrophic cardiomyopathy
D, E. B. M., Saberi, S., Abraham, T. P., Elliot, P. M., & Olivotto, I. (2023) · European Heart Journal · doi:10.1093/eurheartj/ehad637 · Cited by 161
2023 HRS expert consensus statement on the management of arrhythmias during pregnancy
Joglar, J. A., Kapa, S., Saarel, E. V., Dubin, A. M., Görenek, B., Hameed, A. B., de Melo, S. L., Leal, M. A., Mondesert, B. A., Pacheco, L. D., et al. (2023) · Heart Rhythm · doi:10.1016/j.hrthm.2023.05.017 · Cited by 169
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 156
Braunwald, E. (2017) · Circulation Research · doi:10.1161/circresaha.117.311812 · Cited by 150
Myocardial Interstitial Fibrosis in Nonischemic Heart Disease, Part 3/4
Díez, J., González, A., & Kovacic, J. C. (2020) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2020.03.019 · Cited by 147
Hypertrophic cardiomyopathy: genetics and clinical perspectives
Wolf, C. M. (2019) · Cardiovascular Diagnosis and Therapy · doi:10.21037/cdt.2019.02.01 · Cited by 139
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 133
Self-citationTargeting 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 135
Linardos, A., Kushibar, K., Walsh, S., Gkontra, P., & Lekadir, K. (2022) · Scientific Reports · doi:10.1038/s41598-022-07186-4 · Cited by 130
Goto, S., Solanki, D., John, J. E., Yagi, R., Homilius, M., Ichihara, G., Katsumata, Y., Gaggin, H. K., Itabashi, Y., MacRae, C. A., et al. (2022) · Circulation · doi:10.1161/circulationaha.121.058696 · Cited by 130
Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy
Garfinkel, A. C., Seidman, J. G., & Seidman, C. E. (2018) · Heart Failure Clinics · doi:10.1016/j.hfc.2017.12.004 · Cited by 125
Cellular senescence and cardiovascular diseases: moving to the “heart” of the problem
Evangelou, K., Vasileiou, P. V. S., Papaspyropoulos, A., Hazapis, O. G., Petty, R., Demaria, M., & Gorgoulis, V. G. (2022) · Physiological Reviews · doi:10.1152/physrev.00007.2022 · Cited by 127
Disease modeling of a mutation in α‐actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Prondzynski, M., Lemoine, M. D., Zech, A. T. L., Horváth, A., Mauro, V. D., Koivumäki, J. T., Kresin, N., Busch, J., Krause, T., Krämer, E., et al. (2019) · EMBO Molecular Medicine · doi:10.15252/emmm.201911115 · Cited by 121
Toepfer, C. N., Sharma, A., Cicconet, M., Garfinkel, A. C., Mücke, M. B., Neyazi, M., Willcox, J. A. L., Agarwal, R., Schmid, M., Rao, J., et al. (2019) · Circulation Research · doi:10.1161/circresaha.118.314505 · Cited by 116
Effect of Mavacamten on Chinese Patients With Symptomatic Obstructive Hypertrophic Cardiomyopathy
Tian, Z., Li, L., Li, X., Wang, J., Zhang, Q., Li, Z., Peng, D., Yang, P. C., Ma, W., Wang, F., et al. (2023) · JAMA Cardiology · doi:10.1001/jamacardio.2023.3030 · Cited by 118
Galli, E., Vitel, E., Schnell, F., Rolle, V. L., Hubert, A., Léderlin, M., & Donal, E. (2018) · Echocardiography · doi:10.1111/echo.14210 · Cited by 117
JCS/JHFS 2018 Guideline on the Diagnosis and Treatment of Cardiomyopathies
Kitaoka, H., Tsutsui, H., Kubo, T., Ide, T., Chikamori, T., Fukuda, K., Fujino, N., Higo, T., Isobe, M., Kamiya, C., et al. (2021) · Circulation Journal · doi:10.1253/circj.cj-20-0910 · Cited by 119
Multi-omics approaches for revealing the complexity of cardiovascular disease
Doran, S. F., Arif, M., Lam, S. C. C., Bayraktar, A., Türkez, H., Uhlén, M., Borén, J., & Mardinoğlu, A. (2021) · Briefings in Bioinformatics · doi:10.1093/bib/bbab061 · Cited by 113
Long-term effect of mavacamten in obstructive hypertrophic cardiomyopathy
Garcia-Pavia, P., Oręziak, A., Masri, A., Barriales-Villa, R., Abraham, T. P., Owens, A. T., Jensen, M. K., Wojakowski, W., Seidler, T., Hagege, A., et al. (2024) · European Heart Journal · doi:10.1093/eurheartj/ehae579 · Cited by 114
Topriceanu, C., Pereira, A. C., Moon, J., Captur, G., & Ho, C. Y. (2023) · Circulation · doi:10.1161/circulationaha.123.065987 · Cited by 103
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 105
Adapala, R. K., Kanugula, A. K., Paruchuri, S. M., Chilian, W. M., & Thodeti, C. K. (2020) · Basic Research in Cardiology · doi:10.1007/s00395-020-0775-5 · Cited by 100
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
Trujillo‐Quintero, J. P., Molina, M. S., García‐Pinilla, J. M., Mogensen, J., Restrepo-Córdoba, M. A., Palomino-Doza, J., Villacorta, E., Moreno, M. M., Ramos‐Maqueda, J., Zorio, E., et al. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.10.001 · Cited by 102
Sivalokanathan, S., Zghaib, T., Greenland, G. V., Vasquez, N., Kudchadkar, S. M., Kontari, E., Lu, D., Dolores-Cerna, K., van der Geest, R. J., Kamel, I. R., et al. (2018) · JACC. Clinical electrophysiology · doi:10.1016/j.jacep.2018.10.016 · Cited by 95
Liu, X., Yin, K., Chen, L., Chen, W., Li, W., Zhang, T., Sun, Y., Yuan, M., Wang, H., Song, Y., et al. (2023) · Cell Discovery · doi:10.1038/s41421-022-00490-3 · Cited by 100
Keam, S. J. (2022) · Drugs · doi:10.1007/s40265-022-01739-7 · Cited by 94
Cell maturation: Hallmarks, triggers, and manipulation
Alvarez‐Dominguez, J. R., & Melton, D. A. (2022) · Cell · doi:10.1016/j.cell.2021.12.012 · Cited by 96
2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy
Ommen, S. R., Mital, S. R., Burke, M. A., Day, S. M., Deswal, A. M., Elliot, P. M., Evanovich, L. L., Hung, J., Joglar, J. A., Kantor, P. F., et al. (2021) · Journal of Thoracic and Cardiovascular Surgery · doi:10.1016/j.jtcvs.2021.04.001 · Cited by 92
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 92
Animal Models to Study Cardiac Arrhythmias
Blackwell, D. J., Schmeckpeper, J., & Knollmann, B. C. (2022) · Circulation Research · doi:10.1161/circresaha.122.320258 · Cited by 97
Ren, S., Wang, Y., Zhang, Y., Yan, P., Xiao, D., Zhao, Y., Jia, W., Ding, L., Dong, H., Wei, C., et al. (2023) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2023.115253 · Cited by 90
Lysosomal storage disorders affecting the heart: a review
Nair, V., Belanger, E. C., & Veinot, J. P. (2018) · Cardiovascular Pathology · doi:10.1016/j.carpath.2018.11.002 · Cited by 89
COATS, C. J., Pavlou, M., Watkinson, O. T., Protonotarios, A., Moss, L., Hyland, R. A., Rantell, K. R., Pantazis, A. A., Tome, M., McKenna, W. J., et al. (2019) · JAMA Cardiology · doi:10.1001/jamacardio.2018.4847 · Cited by 84
Roest, A. S. V., Liu, C., Morck, M. M., Kooiker, K. B., Jung, G., Song, D., Dawood, A., Jhingran, A., Pardon, G., Ranjbarvaziri, S., et al. (2021) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2025030118 · Cited by 77
AntimiR-132 Attenuates Myocardial Hypertrophy in an Animal Model of Percutaneous Aortic Constriction
Hinkel, R., Bátkai, S., Bähr, A., Bozoglu, T. M., Straub, S., Borchert, T., Viereck, J., Howe, A., Hornaschewitz, N., Oberberger, L., et al. (2021) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2021.04.028 · Cited by 82
Mavacamten, a precision medicine for hypertrophic cardiomyopathy: From a motor protein to patients
Nag, S., Gollapudi, S. K., del Rio, C. L., Spudich, J. A., & McDowell, R. E. (2023) · Science Advances · doi:10.1126/sciadv.abo7622 · Cited by 80
Cremer, P. C., Geske, J. B., Owens, A., Jaber, W. A., Harb, S. C., Saberi, S., Wang, A., Sherrid, M., Naidu, S. S., Schaff, H., et al. (2022) · Circulation: Cardiovascular Imaging · doi:10.1161/circimaging.122.014986 · Cited by 76
Cibi, D. M., Bi-Lin, K. W., Shekeran, S. G., Sandireddy, R., Tee, N., Singh, A., Wu, Y., Srinivasan, D. K., Kovalik, J., Ghosh, S., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.108288 · Cited by 80
Meteorin-like/Meteorin-β protects heart against cardiac dysfunction
Rupérez, C., Ferrer‐Curriu, G., Cervera-Barea, A., Florit, L., Guitart‐Mampel, M., Garrabou, G., Zamora, M., Crispi, F., Fernández‐Solà, J., Lupón, J., et al. (2021) · The Journal of Experimental Medicine · doi:10.1084/jem.20201206 · Cited by 80
Alteration of gut microbiota-associated epitopes in children with autism spectrum disorders
Wang, M., Zhou, J., He, F., Cai, C., Wang, H., Wang, Y., Lin, Y., Rong, H., Cheng, G., Xu, R., et al. (2019) · Brain, Behavior, and Immunity · doi:10.1016/j.bbi.2018.10.006 · Cited by 77
Microengineered platforms for characterizing the contractile function of in vitro cardiac models
Dou, W., Malhi, M., Zhao, Q., Wang, L., Huang, Z., Law, J., Liu, N., Simmons, C. A., Maynes, J. T., & Sun, Y. (2022) · Microsystems & Nanoengineering · doi:10.1038/s41378-021-00344-0 · Cited by 83
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
Viswanathan, S. K., Sanders, H. K., McNamara, J. W., Jagadeesan, A., Jahangir, A., Tajik, A. J., & Sadayappan, S. (2017) · PLoS ONE · doi:10.1371/journal.pone.0187948 · Cited by 76
Eschenhagen, T., & Carrier, L. (2018) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-018-2214-0 · Cited by 82
Atrial fibrillation in hypertrophic cardiomyopathy: prevalence, clinical impact, and management
Garg, L., Gupta, M., Sabzwari, S. R. A., Agrawal, S., Agarwal, M. A., Nazir, T. F., Gordon, J. P., Bozorgnia, B., & Martinez, M. W. (2018) · Heart Failure Reviews · doi:10.1007/s10741-018-9752-6 · Cited by 78
Shi, W., Sheng, X., Dorr, K. M., Hutton, J. E., Emerson, J. I., Davies, H. A., Andrade, T. D., Wasson, L. K., Greco, T. M., Hashimoto, Y., et al. (2021) · Developmental Cell · doi:10.1016/j.devcel.2021.09.022 · Cited by 75
Cardiac sarcomere mechanics in health and disease
Crocini, C., & Gotthardt, M. (2021) · Biophysical Reviews · doi:10.1007/s12551-021-00840-7 · Cited by 83
Aficamten is a small-molecule cardiac myosin inhibitor designed to treat hypertrophic cardiomyopathy
Hartman, J. J., Hwee, D. T., Robert‐Paganin, J., Chuang, C.-Y., Chin, E. R., Edell, S., Lee, K. H., Madhvani, R. V., Paliwal, P., Pernier, J., et al. (2024) · Nature Cardiovascular Research · doi:10.1038/s44161-024-00505-0 · Cited by 75
Braunwald, E. (2025) · New England Journal of Medicine · doi:10.1056/nejmra2413445 · Cited by 76
The long noncoding RNA XIST regulates cardiac hypertrophy by targeting miR‐101
Xiao, L., Gu, Y., Sun, Y., Chen, J., Wang, X., Zhang, Y., Gao, L., & Li, L. (2019) · Journal of Cellular Physiology · doi:10.1002/jcp.28047 · Cited by 72
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 81
A Phase 1 Dose-Escalation Study of the Cardiac Myosin Inhibitor Aficamten in Healthy Participants
Malik, F. I., Robertson, L. A., Armas, D. R., Robbie, E. P., Osmukhina, A., Xu, D., Li, H., & Solomon, S. D. (2022) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2022.04.008 · Cited by 71
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 74
Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy
Velicki, L., Jakovljević, D. G., Preveden, A., Golubović, M., Bjelobrk, M., Ilić, A., Stojšić, S., Barlocco, F., Tafelmeier, M., Okwose, N. C., et al. (2020) · BMC Cardiovascular Disorders · doi:10.1186/s12872-020-01807-4 · Cited by 70
Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies
Monda, E., Palmiero, G., Rubino, M., Verrillo, F., Amodio, F., Fraia, F. D., Pacileo, R., Fimiani, F., Esposito, A., Cirillo, A., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21186462 · Cited by 70
Endothelial cell dysfunction in cardiac disease: driver or consequence?
Allbritton‐King, J. D., & García‐Cardeña, G. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1278166 · Cited by 69
Sewanan, L. R., Schwan, J., Kluger, J., Park, J., Jacoby, D. L., Qyang, Y., & Campbell, S. G. (2019) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2019.03.004 · Cited by 69
New Concepts in Sudden Cardiac Arrest to Address an Intractable Epidemic
Narayan, S. M., Wang, P. J., & Daubert, J. P. (2019) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.09.083 · Cited by 69
Effects of Mavacamten on Measures of Cardiopulmonary Exercise Testing Beyond Peak Oxygen Consumption
Wheeler, M. T., Olivotto, I., Elliot, P. M., Saberi, S., OWENS, A. T., Maurer, M. S., Masri, A., Sehnert, A. J., Edelberg, J. M., Chen, Y.-M., et al. (2023) · JAMA Cardiology · doi:10.1001/jamacardio.2022.5099 · Cited by 64
Bhagwan, J. R., Mosqueira, D., Chairez‐Cantu, K., Mannhardt, I., Bodbin, S. E., Bakar, M., Smith, J. G. W., & Denning, C. N. (2020) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2020.06.003 · Cited by 61
A human cell atlas of the pressure-induced hypertrophic heart
Nicin, L., Schroeter, S. M., Glaser, S.-F., Bruening, R. S., Pham, M. D., Hille, S. S., Yekelchyk, M., Kattih, B., Abplanalp, W. T., Tombor, L., et al. (2022) · Nature Cardiovascular Research · doi:10.1038/s44161-022-00019-7 · Cited by 60
Single-cell transcriptomics provides insights into hypertrophic cardiomyopathy
Wehrens, M., de Leeuw, A. E., Clark, M. W., Eding, J., Boogerd, C. J. J., Molenaar, B., van der Kraak, P. H., Kuster, D. W. D., van der Velden, J., Michels, M., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110809 · Cited by 64
Zheng, S. L., Jurgens, S. J., McGurk, K. A., Xu, X. Y., Grace, C., Theotokis, P. I., Buchan, R. J., Francis, C., de Marvao, A., Curran, L., et al. (2025) · Nature Genetics · doi:10.1038/s41588-025-02094-5 · Cited by 66
Hypertrophy Regression With N-Acetylcysteine in Hypertrophic Cardiomyopathy (HALT-HCM)
Marian, A. J., Tan, Y., Li, L., Chang, J., Syrris, P., Hessabi, M., Rahbar, M. H., Willerson, J. T., Cheong, B., Liu, C., et al. (2018) · Circulation Research · doi:10.1161/circresaha.117.312647 · Cited by 61
Self-citationThe multifaceted view of heart problem in Duchenne muscular dystrophy
Florczyk, U., Polak, K., & Dulak, J. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03862-2 · Cited by 59
Simple and effective embedding model for single-cell biology built from ChatGPT
Chen, Y. T., & Zou, J. (2024) · Nature Biomedical Engineering · doi:10.1038/s41551-024-01284-6 · Cited by 205
Modern Imaging Techniques in Cardiomyopathies
Jan, M. F., & Tajik, A. J. (2017) · Circulation Research · doi:10.1161/circresaha.117.309600 · Cited by 64
Pettinato, 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 58
Metabolic characterization of hypertrophic cardiomyopathy in human heart
Wang, W., Wang, J., Yao, K., Wang, S., Nie, M., Zhao, Y., Wang, B., Pang, H., Xu, J., Wu, G., et al. (2022) · Nature Cardiovascular Research · doi:10.1038/s44161-022-00057-1 · Cited by 58
Function of histone methylation and acetylation modifiers in cardiac hypertrophy
Qin, J., Guo, N., Tong, J., & Wang, Z. (2021) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2021.06.011 · Cited by 59
MYH7 in cardiomyopathy and skeletal muscle myopathy
Gao, Y., Peng, L., & Zhao, C. (2023) · Molecular and Cellular Biochemistry · doi:10.1007/s11010-023-04735-x · Cited by 57
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 59
Temporal and Global Trends of the Incidence of Sudden Cardiac Death in Hypertrophic Cardiomyopathy
Abdelfattah, O., Martinez, M. W., Sayed, A., ElRefaei, M., Abushouk, A. I., Hassan, A. A., Masri, A., Winters, S. L., Kapadia, S. R., Maron, B. J., et al. (2022) · JACC. Clinical electrophysiology · doi:10.1016/j.jacep.2022.07.012 · Cited by 56
Li, B., Liu, F., Chen, X., Chen, T., Zhang, J., Liu, Y., Yao, Y., Hu, W., Zhang, M., Wang, B., et al. (2024) · Circulation · doi:10.1161/circulationaha.123.064489 · Cited by 56
Association between hypertensive disorders of pregnancy and later risk of cardiovascular outcomes
Oliver‐Williams, C., Stevens, D., Payne, R., Wilkinson, I. B., Smith, G. C. S., & Wood, A. (2022) · BMC Medicine · doi:10.1186/s12916-021-02218-8 · Cited by 55
Epidemiology and Clinical Aspects of Genetic Cardiomyopathies
Masarone, D., Kaski, J. P., Pacileo, G., Elliot, P. M., Bossone, E., Day, S. M., & Limongelli, G. (2018) · Heart Failure Clinics · doi:10.1016/j.hfc.2017.12.007 · Cited by 55
Metadata
- Authors
- Marian, A. J., & Braunwald, E.
- Affiliations
- Brigham and Women's Hospital (US)
- From the Center for Cardiovascular Genetics, Institute of Molecular Medicine, Department of Medicine, University of Texas Health Sciences Center at Houston (A.J.M.); Texas Heart Institute, Houston (A.J.M.); and TIMI Study Group, Cardiovascular Division, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA (E.B.).
- ORCID
- Marian, Ali J.
- Venue
- Circulation Research
- Published
- 2017-09-15
- Volume
- 121
- Issue
- 7
- Pages
- 749-770
- ISSN
- 0009-7330 (ISSN-L)
- 1524-4571
- PMC
- PMC5654557
- OpenAlex
- W2756203218
- Cited by
- 1,403
- References
- 252
- Citations by year
- 2026: 175 · 2025: 226 · 2024: 219 · 2023: 199 · 2022: 153 · 2021: 174 · 2020: 103 · 2019: 83 · 2018: 61 · 2017: 6
- FWCI
- 9.75
- 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 Heart, Lung, and Blood Institute (R01HL088498, R01HL132401)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- hypertrophic cardiomyopathy, left ventricular hypertrophy, left ventricular outflow tract obstruction, sudden cardiac death, non-sustained ventricular tachycardia, syncope, cardioverter-defibrillator implantation, atrial fibrillation, sarcomere gene mutations, MYH7, MYBPC3, genetic testing, phenocopy, storage diseases, left ventricular diastolic dysfunction, interstitial fibrosis, molecular pathogenesis
- MeSH terms
- Animals, Biopsy, Cardiomyopathy, Dilated, DNA Mutational Analysis, Genetic Markers, Humans, Mutation, Myocardium, Phenotype, Predictive Value of Tests, Prognosis, Risk Factors, Ventricular Function, Left, 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
