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
Items 201–300 of 1,001
Mazzaccara, C., Lombardi, R., Mirra, B., Barretta, F., Esposito, M. V., Uomo, F., Caiazza, M., Monda, E., Losi, M. A., Limongelli, G., et al. (2022) · Biomolecules · doi:10.3390/biom12101417 · Cited by 31
Comprehensive Analysis of Mitochondrial Dynamics Alterations in Heart Diseases
Morciano, G., Boncompagni, C., Ramaccini, D., Pedriali, G., Bouhamida, E., Tremoli, E., Giorgi, C., & Pinton, P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043414 · Cited by 29
McNamara, J. W., Parker, B. L., Voges, H. K., Mehdiabadi, N. R., Bolk, F., Ahmad, F., Chung, J. D., Charitakis, N., Molendijk, J., Zech, A. T. L., et al. (2023) · Nature Cardiovascular Research · doi:10.1038/s44161-023-00219-9 · Cited by 30
miR‐29a attenuates cardiac hypertrophy through inhibition of PPARδ expression
Zhang, S., Yin, Z., Dai, F., Wang, H., Zhou, M., Yang, M., Zhang, S., Fu, Z., Mei, Y., Zang, M., et al. (2018) · Journal of Cellular Physiology · doi:10.1002/jcp.27997 · Cited by 30
Evolution of genetic testing and gene therapy in hypertrophic cardiomyopathy
Chiswell, K., Zaininger, L., & Semsarian, C. (2023) · Progress in Cardiovascular Diseases · doi:10.1016/j.pcad.2023.04.009 · Cited by 29
Exploring the Connection Between Relaxed Myosin States and the Anrep Effect
Sequeira, V., Maack, C., Reil, G., & Reil, J. (2024) · Circulation Research · doi:10.1161/circresaha.123.323173 · Cited by 29
Hypertrophic Cardiomyopathy: A Brief Overview
D, E. B. M. (2024) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2023.10.075 · Cited by 29
Current RNA strategies in treating cardiovascular diseases
Chia, S. P. S., Pang, J. K. S., & Soh, B.-S. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.01.028 · Cited by 32
Velicki, L., Popović, D., Okwose, N. C., Preveden, A., Tesic, M. B., Tafelmeier, M., Charman, S. J., Barlocco, F., MacGowan, G. A., Seferovic, P. M., et al. (2024) · European Journal of Heart Failure · doi:10.1002/ejhf.3291 · Cited by 29
Mitral Valve Disease in Hypertrophic Cardiomyopathy:Evaluation and Management
Jain, C. C., Newman, D. B., & Geske, J. B. (2019) · Current Cardiology Reports · doi:10.1007/s11886-019-1231-8 · Cited by 29
MicroRNAs in Hypertrophic, Arrhythmogenic and Dilated Cardiomyopathy
Chiti, E., Paolo, M. D., Turillazzi, E., & Rocchi, A. (2021) · Diagnostics · doi:10.3390/diagnostics11091720 · Cited by 29
Ma, T., Qiu, F., Gong, Y., Cao, H., Dai, G., Sun, D., Zhu, D., Lei, H., Liu, Z., & Gao, L. (2023) · Theranostics · doi:10.7150/thno.82543 · Cited by 29
Yadav, S. K., Kaźmierczak, K., Liang, J., Sitbon, Y. H., & Szczesna‐Cordary, D. (2018) · FEBS Journal · doi:10.1111/febs.14702 · Cited by 29
Free‐breathing simultaneous myocardial T1 and T2 mapping with whole left ventricle coverage
Guo, R., Cai, X., Küçükseymen, S., Rodriguez, J., Paskavitz, A., Pierce, P., Goddu, B., Thompson, R. B., & Nezafat, R. (2020) · Magnetic Resonance in Medicine · doi:10.1002/mrm.28506 · Cited by 29
Li, Y., Zhang, W., Dai, Y., & Chen, K. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.986995 · Cited by 28
The pivotal role of ECG in cardiomyopathies
Silvetti, E., Lanza, O., Romeo, F., Martino, A., Fedele, E., Lanzillo, C., Crescenzi, C., Fanisio, F., & Calò, L. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2023.1178163 · Cited by 28
Lee, H., Han, K., Park, J., Hwang, I., Yoon, Y. E., Park, H. E., Choi, S., Kim, Y.-J., Cho, G., Kim, H., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-50993-5 · Cited by 28
Souza, D. S., Barreto, T. D. O., de Menezes‐Filho, J. E. R., Heimfarth, L., Rhana, P., Rabelo, T. K., Santana, M. N. S., Durço, A. O., Conceição, M. R. D. L., Quintans‐Júnior, L. J., et al. (2020) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2020.173583 · Cited by 28
Bi, X., Song, Y., Song, Y., Yuan, J., Cui, J., Zhao, S., & Qiao, S. (2020) · Journal of the American Heart Association · doi:10.1161/jaha.120.017752 · Cited by 28
Copper chelation in patients with hypertrophic cardiomyopathy
Reid, A. B., Miller, C., Farrant, J. P., Polturi, R., Clark, D., Ray, S. G., Cooper, G. J. S., & Schmitt, M. (2022) · Open Heart · doi:10.1136/openhrt-2021-001803 · Cited by 28
Homology-directed repair of an MYBPC3 gene mutation in a rat model of hypertrophic cardiomyopathy
Nie, J., Han, Y., Jin, Z., Hang, W., Shu, H., Zheng, W., Ni, L., & Wang, D. W. (2023) · Gene Therapy · doi:10.1038/s41434-023-00384-3 · Cited by 28
Moore, J., Ewoldt, J. K., Venturini, G., Pereira, A. C., Padilha, K., Lawton, M. L., Lin, W., Goel, R. K., Luptak, I., Perissi, V., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24054724 · Cited by 29
Cuevas-Navarro, A., Wagner, M. E., Van, R., Swain, M., Mo, S., Columbus, J., Allison, M. R., Cheng, A. S., Messing, S. A. J., Turbyville, T. J., et al. (2023) · Science Advances · doi:10.1126/sciadv.adf4766 · Cited by 29
Hypertrophic Cardiomyopathy ― A Heterogeneous and Lifelong Disease in the Real World ―
Kitaoka, H., Kubo, T., & Doi, Y. (2020) · Circulation Journal · doi:10.1253/circj.cj-20-0524 · Cited by 28
Gao, J., Liu, M., Lu, M., Zheng, Y., Wang, Y., Yang, J., Xue, X., Liu, Y., Tang, F., Wang, S., et al. (2024) · Protein & Cell · doi:10.1093/procel/pwae032 · Cited by 28
Fan, L., Ding, D.-B., Huang, H., Chen, Y., Jin, J., Xia, K., & Xiang, R. (2018) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2018-0578 · Cited by 27
Rai, A., Kumar, V., Jerath, G., Kartha, C. S., & Ramakrishnan, V. (2021) · npj Systems Biology and Applications · doi:10.1038/s41540-021-00171-z · Cited by 26
Shen, H. M., Dong, S.-Y., Ren, M.-S., & Wang, R. (2022) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2022.949294 · Cited by 27
Gene-echocardiography: refining genotype–phenotype correlations in hypertrophic cardiomyopathy
Zhou, N., Weng, H., Zhao, W., Tang, L., Ge, Z., Tian, F., Meng, F., Pan, C., & Shu, X. (2023) · European Heart Journal - Cardiovascular Imaging · doi:10.1093/ehjci/jead200 · Cited by 27
Cassani, M., Fernandes, S., Vrbský, J., Ergir, E., Cavalieri, F., & Forte, G. (2020) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2020.00323 · Cited by 29
Guidelines on the Diagnosis and Treatment of Hypertrophic Cardiomyopathy - 2024
Fernandes, F., Simões, M. V., Correia, E. D. B., Marcondes‐Braga, F. G., Coelho‐Filho, O. R., Mesquita, C. T., Mathias, W., Antunes, M. D. O., Arteaga-Fernández, E., Rochitte, C. E., et al. (2024) · Arquivos Brasileiros de Cardiologia · doi:10.36660/abc.20240415i · Cited by 26
RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy
Ribeiro, M., Furtado, M., Martins, S., Carvalho, T., & Carmo‐Fonseca, M. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21041329 · Cited by 29
Cardiac magnetic resonance in hypertrophic and dilated cardiomyopathies
Pradella, S., Grazzini, G., Amicis, C. D., Letteriello, M., Acquafresca, M., & Miele, V. (2020) · La radiologia medica · doi:10.1007/s11547-020-01276-x · Cited by 26
Exosomally derived Y RNA fragment alleviates hypertrophic cardiomyopathy in transgenic mice
Huang, F., Na, N., Ijichi, T., Wu, X., Miyamoto, K., Ciullo, A., Tran, M., Liang, L., Ibrahim, A. G.-E., Marbán, E., et al. (2021) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2021.04.014 · Cited by 27
OWENS, A. T., Sutton, M. B., Gao, W., Fine, J. T., Xie, J., Naidu, S. S., & Desai, N. R. (2022) · Cardiology and Therapy · doi:10.1007/s40119-022-00257-7 · Cited by 26
Afzal, J. M., Liu, Y., Du, W., Suhail, Y., Zong, P., Feng, J., Ajeti, V., Sayyad, W. A., Nikolaus, J., Yankova, M. P., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111146 · Cited by 26
Ismayl, M., Abbasi, M. A., Marar, R. I., Geske, J. B., Gersh, B. J., & Anavekar, N. S. (2022) · Current Problems in Cardiology · doi:10.1016/j.cpcardiol.2022.101429 · Cited by 26
Familial Hypertrophic Cardiomyopathy: Diagnosis and Management
Litt, M. J., Ali, A., & Reza, N. (2023) · Vascular Health and Risk Management · doi:10.2147/vhrm.s365001 · Cited by 29
AAV9 gene transfer of cMyBPC N-terminal domains ameliorates cardiomyopathy in cMyBPC-deficient mice
Li, J., Mamidi, R., Doh, C. Y., Holmes, J. B., Bharambe, N. G., Ramachandran, R., & Stelzer, J. E. (2020) · JCI Insight · doi:10.1172/jci.insight.130182 · Cited by 26
Current management of hypertrophic cardiomyopathy
Sikand, N., Stendahl, J., Sen, S., Lampert, R., & Day, S. (2025) · BMJ · doi:10.1136/bmj-2023-077274 · Cited by 26
Massively Parallel Reporter Assays for High-Throughput In Vivo Analysis of Cis-Regulatory Elements
Zheng, Y., & VanDusen, N. J. (2023) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd10040144 · Cited by 25
Das, D., Jothimani, G., Banerjee, A., Dey, A. K., Duttaroy, A. K., & Pathak, S. (2024) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2024.106616 · Cited by 25
Kitaoka, H., Ieda, M., Ebato, M., Kozuma, K., Takayama, M., Tanno, K., Komiyama, N., Sakata, Y., Maekawa, Y., Minami, Y., et al. (2024) · Circulation Journal · doi:10.1253/circj.cj-24-0501 · Cited by 25
Argirò, A., Parikh, V. N., Jurcut, R. O., Finocchiaro, G., Kaski, J. P., ADLER, E. D., & Olivotto, I. (2025) · Nature Reviews Disease Primers · doi:10.1038/s41572-025-00643-0 · Cited by 29
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients
Heliö, K., Cicerchia, M., Hathaway, J., Tommiska, J., Huusko, J. M., Saarinen, I., Koskinen, L., Muona, M., Kytölä, V., Djupsjöbacka, J., et al. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2023.1254272 · Cited by 25
Gómez, J., Lorca, R., Reguero, J. R., Martín, M. J. R., Morı́s, C., Alonso, B., Iglesias, S., Molina, B. D., y, P. A., & Coto, E. (2018) · Epigenomics · doi:10.2217/epi-2017-0175 · Cited by 25
Stöllberger, C., & Finsterer, J. (2018) · Expert Review of Cardiovascular Therapy · doi:10.1080/14779072.2019.1561280 · Cited by 25
Togo, S., Sugiura, Y., Suzuki, S., Ohno, K., Akita, K., Suwa, K., Shibata, S., Kimura, M., & Maekawa, Y. (2023) · Open Heart · doi:10.1136/openhrt-2023-002414 · Cited by 24
Mechanisms of myosin II force generation: insights from novel experimental techniques and approaches
Rassier, D. E., & Månsson, A. (2024) · Physiological Reviews · doi:10.1152/physrev.00014.2023 · Cited by 28
Guo, L., Du, Y., Li, H., He, T., Yao, L., Yang, G., & Yang, X. (2025) · Metabolism · doi:10.1016/j.metabol.2025.156144 · Cited by 25
Inherited cardiomyopathies and sports participation
Zorzi, A., Pelliccia, A., & Corrado, D. (2018) · Netherlands Heart Journal · doi:10.1007/s12471-018-1079-3 · Cited by 24
Alimadadi, A., Aryal, S., Manandhar, I., Joe, B., & Cheng, X. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21103472 · Cited by 24
Li, Y., Liu, J., Cao, Y., Han, X., Shao, G., Zhou, X., Gu, J., Liu, T., Cui, Y., & Shi, H. (2021) · Scientific Reports · doi:10.1038/s41598-021-83678-z · Cited by 24
Cardiovascular Research in Friedreich Ataxia
Payne, R. M. (2022) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2022.04.005 · Cited by 25
How cytoskeletal proteins regulate mitochondrial energetics in cell physiology and diseases
Solomon, T., Rajendran, M., Rostovtseva, T. K., & Hool, L. C. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2021.0324 · Cited by 23
Mechanisms of Sarcomere Protein Mutation-Induced Cardiomyopathies
Barefield, D. Y., Álvarez-Arce, A., & Araujo, K. (2023) · Current Cardiology Reports · doi:10.1007/s11886-023-01876-9 · Cited by 30
The Application of Induced Pluripotent Stem Cells in Cardiac Disease Modeling and Drug Testing
Ye, L., Ni, X., Zhao, Z., Lei, W., & Hu, S. (2018) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-018-9811-3 · Cited by 25
Wu, X., Li, Y., Wang, Y., Zhang, M., Zhu, W., Cai, Q., Jiang, W., Sun, L., Ding, X., Ye, X., et al. (2019) · Journal of the American Heart Association · doi:10.1161/jaha.118.011269 · Cited by 24
Magrì, D., Mastromarino, V., Gallo, G., Zachara, E., Re, F., Agostoni, P., Giordano, D., Rubattu, S. D., Forte, M., Cotugno, M., et al. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9061636 · Cited by 24
Pagourelias, E. D., Alexandridis, G. M., & Vassilikos, V. P. (2021) · Heart Failure Reviews · doi:10.1007/s10741-020-10058-6 · Cited by 24
Kim, H. Y., Park, J. E., Lee, S., Jeon, E., On, Y. K., Kim, S. M., Choe, Y. H., Ki, C., Kim, J., & Kim, K. H. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9061671 · Cited by 23
Atrial fibrillation in hypertrophic cardiomyopathy: pathophysiology, diagnosis and management.
Falasconi, G., Pannone, L., Slavich, M., Margonato, A., Fragasso, G., & Spoladore, R. (2020) · PubMed Central · Cited by 23
Liang, L. W., Fifer, M. A., Hasegawa, K., Maurer, M. S., Reilly, M. P., & Shimada, Y. J. (2021) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.120.003259 · Cited by 25
Vasorin deficiency leads to cardiac hypertrophy by targeting MYL7 in young mice
Sun, J., Guo, X., Yu, P., Liang, J., Mo, Z., Zhang, M., Yang, L., Huang, X., Hu, B., Liu, J., et al. (2021) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17034 · Cited by 23
Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy
Ušaj, M., Moretto, L., & Månsson, A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23042195 · Cited by 25
New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models
Sharma, A. K., Singh, S., Bhat, M., Gill, K., Zaid, M., Kumar, S., Shakya, A., Tantray, J., Jose, D., Gupta, R., et al. (2023) · Scientific Reports · doi:10.1038/s41598-023-41942-4 · Cited by 24
Huang, X., Yue, Y., Wang, Y., Deng, Y., Liu, L., Di, Y., Sun, S., Chen, D., Fan, L., & Cao, J. J. (2018) · Cardiovascular Ultrasound · doi:10.1186/s12947-018-0142-y · Cited by 23
Preveden, A., Golubović, M., Bjelobrk, M., Miljković, T., Ilić, A., Stojšić, S., Gajic, D., Glavaški, M., Maier, L. S., Okwose, N. C., et al. (2022) · Medicina · doi:10.3390/medicina58020314 · Cited by 23
Baka, T., Moore, J., Qin, F., Yurista, S. R., Zhang, A., He, H., Chambers, J. M., Croteau, D., Goel, R. K., Smith, H. R., et al. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf324 · Cited by 22
Srivats, S. S., Zghyer, F., Shahrori, Z., Albert, C. M., Al‐Khatib, S. M., Chugh, S. S., Etheridge, S. P., Goldberger, Z. D., Gopinathannair, R., Lakkireddy, D., et al. (2025) · Progress in Cardiovascular Diseases · doi:10.1016/j.pcad.2025.06.005 · Cited by 26
Exercise and myocardial injury in hypertrophic cardiomyopathy
Cramer, G. E., Gommans, D. H. F., Dieker, H.-J., Michels, M., Verheugt, F. W. A., de Boer, M., Bakker, J., Fouraux, M. A., Timmermans, J., Kofflard, M. J. M., et al. (2020) · Heart · doi:10.1136/heartjnl-2019-315818 · Cited by 22
Mechanisms underlying pathological Ca2+ handling in diseases of the heart
Lahiri, S. K., Aguilar-Sánchez, Y., & Wehrens, X. H. T. (2021) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-020-02504-z · Cited by 23
Wyburd, M. K., Dinsdale, N. K., Namburete, A. I. L., & Jenkinson, M. (2021) · Lecture Notes in Computer Science · doi:10.1007/978-3-030-87193-2_24 · Cited by 22
Xie, J., Wang, Y., Xu, Y., Fine, J. T., Lam, J., & Garrison, L. P. (2021) · Journal of Medical Economics · doi:10.1080/13696998.2021.2011301 · Cited by 22
Naidu, S. S., Sutton, M. B., Gao, W., Fine, J. T., Xie, J., Desai, N. R., & OWENS, A. T. (2023) · Journal of Medical Economics · doi:10.1080/13696998.2023.2208966 · Cited by 22
Seo, K., Yamamoto, Y., Kirillova, A., Kawana, M., Yadav, S. K., Huang, Y., Wang, Q., Lane, K. V., Pruitt, B. L., Perez, M. V., et al. (2023) · Circulation · doi:10.1161/circulationaha.123.065017 · Cited by 22
Song, T., Manoharan, P., Millay, D. P., Koch, S. E., Rubinstein, J., Heiny, J. A., & Sadayappan, S. (2019) · Skeletal Muscle · doi:10.1186/s13395-019-0189-y · Cited by 22
Leukocyte telomere length correlates with hypertrophic cardiomyopathy severity
Chatterjee, S., de Gonzalo-Calvo, D., Derda, A. A., Schimmel, K., Sonnenschein, K., Bavendiek, U., Bauersachs, J., Bär, C., & Thum, T. (2018) · Scientific Reports · doi:10.1038/s41598-018-29072-8 · Cited by 21
Application of Spatial Omics in the Cardiovascular System
Hu, Y., Jia, H., Cui, H., & Song, J. (2025) · Research · doi:10.34133/research.0628 · Cited by 24
Spatial transcriptional landscape of human heart failure
Lee, S. E., Joo, J. H., Hwang, H. S., Chen, S., Evans, D., Lee, K. Y., Kim, K., Hyun, J., Kim, M., Jung, S., et al. (2025) · European Heart Journal · doi:10.1093/eurheartj/ehaf272 · Cited by 29
Blagova, O. V., Нуховна, А. И., Коган, Е. А., Zaytsev, A., Парисович, С. В., Chernyavskiy, S., Surikova, Y., Kotov, I. N., & Zaklyazminskaya, E. V. (2020) · Frontiers in Pharmacology · doi:10.3389/fphar.2020.579450 · Cited by 21
Dantas, D., Pereira, A. G., Fujimori, A. S. S., Ribeiro, A. P. D., Silva, C. C. V. D. A., Monte, M. G., Corrêa, C. R., Fernandes, A. A. H., Bazan, S. G. Z., Azevedo, P. S., et al. (2022) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd9080254 · Cited by 21
Dileep, D., Syed, T. A., Sloan, T. F. W., Dhandapany, P. S., Kaleem Siddiqi, A., & Sirajuddin, M. (2023) · The EMBO Journal · doi:10.15252/embj.2022113288 · Cited by 23
gougheri, K. A., Ahmadi, A., Ahmadabadi, M. G., Babajani, A., Yazdanpanah, G., Bahrami, S., Hassani, M., & Niknejad, H. (2023) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2023.115801 · Cited by 22
Deficiency of Transcription Factor Sp1 Contributes to Hypertrophic Cardiomyopathy
Zhang, F., Zhou, H., Xue, J., Zhang, Y., Zhou, L., Leng, J., Fang, G., Liu, Y., Wang, Y., Liu, H., et al. (2024) · Circulation Research · doi:10.1161/circresaha.123.323272 · Cited by 21
Lin, L., Xu, H., Yao, Z., Zeng, X., Kang, L., Li, Y., Zhou, G., Wang, S., Zhang, Y., Cheng, D., et al. (2024) · Journal of Ethnopharmacology · doi:10.1016/j.jep.2024.118685 · Cited by 21
Schoonvelde, S. A. C., Wiethoff, I., Zwetsloot, P.-P. M., Hirsch, A., Knackstedt, C., Germans, T., Sikking, M. A., Schinkel, A. F. L., van Slegtenhorst, M. A., Verhagen, J. M. A., et al. (2024) · European Heart Journal - Quality of Care and Clinical Outcomes · doi:10.1093/ehjqcco/qcae092 · Cited by 21
Increased O-GlcNAcylation induces myocardial hypertrophy
Chen, X., Zhang, L., He, H., Sun, Y., Shen, Q., & Shi, L. (2020) · In Vitro Cellular & Developmental Biology - Animal · doi:10.1007/s11626-020-00503-z · Cited by 21
Modeling Inherited Cardiomyopathies in Adult Zebrafish for Precision Medicine
Ding, Y., Bu, H., & Xu, X. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.599244 · Cited by 21
Chung, H., Kim, Y., Park, C. H., Kim, I. S., Kim, J., Min, P., Yoon, Y. W., Kim, T. H., Lee, B. K., Hong, B., et al. (2021) · Cardiovascular Ultrasound · doi:10.1186/s12947-020-00233-y · Cited by 21
Kinnear, C., Said, A., Meng, G., Zhao, Y., Wang, E. Y., Rafatian, N., Parmar, N., Wei, W., Billia, F., Simmons, C. A., et al. (2024) · Cell Reports Medicine · doi:10.1016/j.xcrm.2024.101520 · Cited by 21
Yu, T.-Y., Huang, Z., & Pu, Z. (2022) · Genes · doi:10.3390/genes13030530 · Cited by 21
Zhen, C., Wu, X., Zhang, J., Liu, D., Li, G., Yan, Y., He, X., JiaWei, M., Song, H., Yan, Y., et al. (2023) · Frontiers in Pharmacology · doi:10.3389/fphar.2023.1127123 · Cited by 20
Bishev, D., Fabara, S. P., Loseke, I., Alok, A., Al‐Ani, H., & Bazikian, Y. (2023) · Heart Lung and Circulation · doi:10.1016/j.hlc.2023.05.019 · Cited by 20
Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy
Puckelwartz, M. J., Pesce, L. L., Dellefave‐Castillo, L. M., Wheeler, M. T., Pottinger, T. D., Robinson, A., Kearns, S. D., Gacita, A. M., Schoppen, Z. J., Pan, W., et al. (2021) · Journal of the American Heart Association · doi:10.1161/jaha.120.019944 · Cited by 21
Update on Biomarkers Associated to Cardioembolic Stroke: A Narrative Review
Fonseca, A. C., & Coelho, P. (2021) · Life · doi:10.3390/life11050448 · Cited by 20
RBM20 Is a Candidate Gene for Hypertrophic Cardiomyopathy
Dai, J., Li, Z., Huang, W., Chen, P., Sun, Y., Wang, H., Wu, D., Chen, Y., Li, C., Xiao, L., et al. (2021) · Canadian Journal of Cardiology · doi:10.1016/j.cjca.2021.07.014 · Cited by 20
CRISPR gene-editing therapies for hypertrophic cardiomyopathy
Strong, A. (2023) · Nature Medicine · doi:10.1038/s41591-022-02184-5 · Cited by 20
Infante, T., Francone, M., Rimini, M. L. D., Cavaliere, C., Canonico, R., Catalano, C., & Claudio Napoli, A. (2020) · Journal of Cardiovascular Medicine · doi:10.2459/jcm.0000000000001103 · Cited by 19
Liu, M., Yue, L.-J., Luo, Y., Lu, J., Wu, G., Sheng, S., Shi, Y., & Dong, Z. (2022) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2022.175155 · Cited by 19
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
