Cited by 1,403Cardiomyopathy and Myosin StudiesCardiovascular Effects of ExerciseCardiac electrophysiology and arrhythmias

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 access

Marian, Ali J., Braunwald, Eugene·2017·Circulation Research

DOI 10.1161/circresaha.117.311059PMC PMC5654557

Open this paper in CoChat — free account

Abstract

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.

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

Crossref · 10.1161/circresaha.117.311059

Cites

251 of 251 references verified0 citation errors · 0 not checkable

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?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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
A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation
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
Hypertrophic Cardiomyopathy
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
A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD)
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

Show all 252 references

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.

Sorted by citations

Items 301–400 of 1,001

Human engineered cardiac tissue model of hypertrophic cardiomyopathy recapitulates key hallmarks of the disease and the effect of chronic mavacamten treatment
Wang, K., Schriver, B. J., Aschar‐Sobbi, R., Yi, A. Y., Feric, N. T., & Graziano, M. P. (2023) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2023.1227184 · Cited by 19
Valerenic acid attenuates pathological myocardial hypertrophy by promoting the utilization of multiple substrates in the mitochondrial energy metabolism
Liu, T., Chen, X., Sun, Q., Li, J., Wang, Q., Wei, P., Wang, W., Li, C., & Wang, Y. (2024) · Journal of Advanced Research · doi:10.1016/j.jare.2024.02.008 · Cited by 21
Management of hypertrophic cardiomyopathy
Zhang, Y., Adamo, M., Zou, C., Porcari, A., Tomasoni, D., Rossi, M., Merlo, M., Liu, H., Wang, J., Zhou, P., et al. (2024) · Journal of Cardiovascular Medicine · doi:10.2459/jcm.0000000000001616 · Cited by 21
Prevention of sudden cardiac death in hypertrophic cardiomyopathy: Risk assessment using left atrial diameter predicted from left atrial volume
Mills, H., Espersen, K., Jurlander, R. S., Iversen, K. K., Bundgaard, H., & Raja, A. A. (2020) · Clinical Cardiology · doi:10.1002/clc.23351 · Cited by 19
The Time Has Come to Explore Plasma Biomarkers in Genetic Cardiomyopathies
Stege, N. M., de Boer, R. A., van den Berg, M. P., & Silljé, H. H. W. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22062955 · Cited by 20
An Investigation of Fibulin-2 in Hypertrophic Cardiomyopathy
Ibrahim, A. M., Roshdy, M., Elshorbagy, S., Hosny, M., Halawa, S., Yehia, D., Elfawy, H. A., Eldessouki, A., Mohamed, F., Ellithy, A., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21197176 · Cited by 18
Diffuse myocardial fibrosis by T1 mapping is associated with heart failure in pediatric primary dilated cardiomyopathy
Al‐Wakeel‐Marquard, N., Seidel, F., Herbst, C., Kühnisch, J., Kühne, T., Berger, F. F., Klaassen, S., & Messroghli, D. (2021) · International Journal of Cardiology · doi:10.1016/j.ijcard.2021.03.023 · Cited by 18
Hypertrophic Cardiomyopathy and Atrial Fibrillation: A Review
Palyam, V., Azam, A. T., Odeyinka, O., Alhashimi, R., Thoota, S., Ashok, T., & Sange, I. (2022) · Cureus · doi:10.7759/cureus.21101 · Cited by 18
Nicotinamide riboside kinase-2 inhibits JNK pathway and limits dilated cardiomyopathy in mice with chronic pressure overload
Shahzadi, S. K., Marzook, H., Qaisar, R., & Ahmad, F. (2022) · Clinical Science · doi:10.1042/cs20210964 · Cited by 18
Augmented risk of ischemic stroke in hypertrophic cardiomyopathy patients without documented atrial fibrillation
Choi, Y., Kim, B., Rhee, T., Lee, H., Lee, H., Park, J., Lee, S., Han, K., Kim, Y.-J., & Kim, H. (2022) · Scientific Reports · doi:10.1038/s41598-022-19895-x · Cited by 18
Cardiac Biomarkers in Sports Cardiology
Costache, A. D., Leon, M. M., Roca, M., Maștaleru, A., Anghel, R.-C., Zota, I. M., Drugescu, A., Costache, I. I., Chetran, A., Moisă, Ș. M., et al. (2022) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd9120453 · Cited by 18
Targeting interleukin-21 inhibits stress overload-induced cardiac remodelling via the TIMP4/MMP9 signalling pathway
Xing, Y., Xie, S., Shi, W., Zeng, X., Deng, W., & Tang, Q. (2022) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2022.175482 · Cited by 18
Cardioprotective effect of ultrasound‐targeted destruction of Sirt3‐loaded cationic microbubbles in a large animal model of pathological cardiac hypertrophy
Qin, X., Cai, P., Liu, C., Chen, K., Jiang, X., Chen, W., Li, J., Jiao, X., Guo, E., Yu, Y., et al. (2023) · Acta Biomaterialia · doi:10.1016/j.actbio.2023.04.020 · Cited by 18
Mechanisms of mitochondrial microRNA regulation in cardiovascular diseases
Roiz‐Valle, D., Caravia, X. M., & López-Otı́n, C. (2023) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2023.111822 · Cited by 19
ISE/ISHNE Expert Consensus Statement on ECG Diagnosis of Left Ventricular Hypertrophy: The Change of the Paradigm. The joint paper of the International Society of Electrocardiology and the International Society for Holter Monitoring and Noninvasive Electrocardiology
Bachárová, L., Chevalier, P., Görenek, B., Jøns, C., Li, Y., Locati, E. T., Maanja, M., Pérez‐Riera, A. R., Platonov, P. G., Ribeiro, A. L. P., et al. (2023) · Journal of Electrocardiology · doi:10.1016/j.jelectrocard.2023.08.005 · Cited by 18
ISE/ISHNE expert consensus statement on the ECG diagnosis of left ventricular hypertrophy: The change of the paradigm
Bachárová, L., Chevalier, P., Görenek, B., Jøns, C., Li, Y., Locati, E. T., Maanja, M., Pérez‐Riera, A. R., Platonov, P. G., Ribeiro, A. L. P., et al. (2023) · Annals of Noninvasive Electrocardiology · doi:10.1111/anec.13097 · Cited by 18
A systematic review and meta-analysis of the efficacy and safety of Mavacamten therapy in international cohort of 524 patients with hypertrophic cardiomyopathy
Yacoub, M. S., El-Nakhal, T., Hasabo, E. A., Shehata, N., Wilson, K., Ismail, K. H., Bakr, M. S., Mohsen, M., Mohamed, A. H., Abdelazim, E., et al. (2023) · Heart Failure Reviews · doi:10.1007/s10741-023-10375-6 · Cited by 18
Clinicopathological and Genetic Profiles of Cases with Myocyte Disarray—Investigation for Establishing the Autopsy Diagnostic Criteria for Hypertrophic Cardiomyopathy
Hata, Y., Ichimata, S., Yamaguchi, Y., Hirono, K., Oku, Y., Ichida, F., & Nishida, N. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8040463 · Cited by 18
Contractile work directly modulates mitochondrial protein levels in human engineered heart tissues
Ng, R., Sewanan, L. R., Brill, A. L., Stankey, P. P., Li, X., Qyang, Y., Ehrlich, B. E., & Campbell, S. G. (2020) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00055.2020 · Cited by 18
Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy
Mori, A. A., de Castro, L. R., Bortolin, R. H., Bastos, G. M., de Oliveira, V. F., Ferreira, G. M., Hirata, T. D. C., Fajardo, C. M., Sampaio, M. F., Moreira, D. A. R., et al. (2021) · Forensic Science International Genetics · doi:10.1016/j.fsigen.2021.102478 · Cited by 18
Interplay of Genotype and Substrate Stiffness in Driving the Hypertrophic Cardiomyopathy Phenotype in iPSC-Micro-Heart Muscle Arrays
Guo, J., Jiang, H., Oguntuyo, K., Rios, B., Boodram, Z., & Huebsch, N. (2021) · Cellular and Molecular Bioengineering · doi:10.1007/s12195-021-00684-x · Cited by 18
The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care
Parker, L. E., & Landstrom, A. P. (2021) · Progress in Pediatric Cardiology · doi:10.1016/j.ppedcard.2021.101413 · Cited by 18
Neither Athletic Training nor Detraining Affects LV Hypertrophy in Adult, Low-Risk Patients With HCM
Pelliccia, A., Borrazzo, C., Caselli, S., Lemme, E., Musumeci, B., Maestrini, V., Francia, P., Russo, D., Pelliccia, M., Olivotto, I., et al. (2021) · JACC. Cardiovascular imaging · doi:10.1016/j.jcmg.2021.08.012 · Cited by 18
Left Bundle Pacing for Left Bundle Branch Block and Intermittent Third-Degree Atrioventricular Block in a MYH7 Mutation-Related Hypertrophic Cardiomyopathy With Restrictive Phenotype in a Child
Zhang, L., Cheng, X., Chen, J., Zhou, M. D., Qian, T., Zhang, Z., Yin, J., Zhang, H., Dai, G., Qin, Y., et al. (2020) · Frontiers in Pediatrics · doi:10.3389/fped.2020.00312 · Cited by 17
RETRACTED: Lopsided Blood‐Thinning Drug Increases the Risk of Internal Flow Choking Leading to Shock Wave Generation Causing Asymptomatic Cardiovascular Disease
Kumar, V. R. S., Choudhary, S. K., Radhakrishnan, P. K., Bharath, R. S., Chandrasekaran, N., Sankar, V., Sukumaran, A., & Oommen, C. (2021) · Global Challenges · doi:10.1002/gch2.202000076 · Cited by 18
Retracted
Comparing echocardiographic characteristics in genotype positive–phenotype positive hypertrophic cardiomyopathy and hypertensive left ventricular hypertrophy
de la Rosa, A., Shah, M., Shiota, T., Siegel, R. J., & Rader, F. (2021) · European Heart Journal - Cardiovascular Imaging · doi:10.1093/ehjci/jeab217 · Cited by 17
A systematic review and meta-analysis of sex differences in clinical outcomes of hypertrophic cardiomyopathy
Liu, G., Su, L., & Lang, M. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2023.1252266 · Cited by 17
Gene Editing and Gene-Based Therapeutics for Cardiomyopathies
Ohiri, J. C., & McNally, E. M. (2018) · Heart Failure Clinics · doi:10.1016/j.hfc.2017.12.006 · Cited by 17
Modifications of Sarcoplasmic Reticulum Function Prevent Progression of Sarcomere-Linked Hypertrophic Cardiomyopathy Despite a Persistent Increase in Myofilament Calcium Response
Chowdhury, S. A. K., Warren, C. M., Simon, J. N., Ryba, D. M., Batra, A., Varga, P., Kranias, E. G., Tardiff, J. C., Solaro, R. J., & Wolska, B. M. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.00107 · Cited by 17
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease
Mauhin, W., Benvéniste, O., Amelin, D., Montagner, C., Lamari, F., Caillaud, C., Douillard, C., Dussol, B., Seguin, V. L., D’Halluin, P., et al. (2020) · PLoS ONE · doi:10.1371/journal.pone.0233460 · Cited by 17
mir15a/mir16‐1 cluster and its novel targeting molecules negatively regulate cardiac hypertrophy
Guo, H., Ma, K., Hao, W., Yao, J., Li, Y., Chen, J., Chen, X., Xu, F., Lau, W. B., Du, J., et al. (2020) · Clinical and Translational Medicine · doi:10.1002/ctm2.242 · Cited by 17
Brugada Syndrome: Warning of a Systemic Condition?
D’Imperio, S., Monasky, M. M., Micaglio, E., Ciconte, G., Anastasia, L., & Pappone, C. (2021) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2021.771349 · Cited by 17
Family Screening in Hypertrophic Cardiomyopathy
Silajdzija, E., Vissing, C. R., Christensen, E. B., Mills, H. L., Kock, T. O., Andersen, L. J., Snoer, M., Thune, J. J., Bartels, E. D., Axelsson Raja, A., et al. (2024) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2024.08.011 · Cited by 17
Comprehensive Review: Mavacamten and Aficamten in Hypertrophic Cardiomyopathy
Savsin, H., & Tokarek, T. (2025) · Biomedicines · doi:10.3390/biomedicines13071619 · Cited by 18
Mitochondrial Energetics and Ca2+-Activated ATPase in Obstructive Hypertrophic Cardiomyopathy
Lombardi, M., Lazzeroni, D., Pisano, A., Girolami, F., Alfieri, O., Canna, G. L., d’Amati, G., Olivotto, I., Rimoldi, O. E., Foglieni, C., et al. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9061799 · Cited by 16
Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner
Singh, R. R., McNamara, J. W., & Sadayappan, S. (2021) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2021.100836 · Cited by 16
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males
Méndez, I., Fernández, A. I., Espinosa, M. Á., Cuenca, S., Lorca, R., Rodríguez, J. F., Tamargo, M., Garcia-Montero, M., Gómez, C., Vilches, S., et al. (2021) · Open Heart · doi:10.1136/openhrt-2021-001789 · Cited by 17
MicroRNAs in cardiovascular diseases
Li, H., Zhan, J., Chen, C., & Wang, D. W. (2022) · Medical Review · doi:10.1515/mr-2021-0001 · Cited by 16
Hypertrophic Cardiomyopathy: Current Treatment and Future Options
Sebastian, S. A., Panthangi, V., Singh, K., Rayaroth, S., Gupta, A., Shantharam, D., Rasool, B. Q., Padda, I., Co, E. L., & Johal, G. (2022) · Current Problems in Cardiology · doi:10.1016/j.cpcardiol.2022.101552 · Cited by 16
The weight of obesity in hypertrophic cardiomyopathy
Zaromytidou, M., & Savvatis, K. (2023) · Clinical Medicine · doi:10.7861/clinmed.2023-0194 · Cited by 17
The Efficacy of Cardiac Myosin Inhibitors Versus Placebo in Patients With Symptomatic Hypertrophic Cardiomyopathy: A Meta-Analysis and Systematic Review
Yassen, M., Changal, K., Busken, J., Royfman, R., Schodowski, E., Venkataramany, B. S., Khouri, S. J., & Moukarbel, G. V. (2023) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2023.10.059 · Cited by 16
Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models
Li, Y., Ma, K., Dong, Z., Gao, S., Zhang, J., Huang, S., Yang, J., Fang, G., Li, Y., Li, X., et al. (2024) · Journal of Clinical Investigation · doi:10.1172/jci177172 · Cited by 17
Genomics of pediatric cardiomyopathy
Lee, T. M., Ware, S. M., Kamsheh, A. M., Bhatnagar, S., Absi, M. A., Miller, E., Purevjav, E., Ryan, K. A., Towbin, J. A., & Lipshultz, S. E. (2025) · Pediatric Research · doi:10.1038/s41390-025-03819-2 · Cited by 17
Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human β-cardiac myosin allosterically
Nandwani, N., Bhowmik, D., Glaser, C., Childers, M. C., Goluguri, R. R., Dawood, A., Regnier, M., Houdusse, A., Spudich, J. A., & Ruppel, K. M. (2025) · Nature Communications · doi:10.1038/s41467-025-63816-1 · Cited by 16
From Hypertrophy to Heart Failure: What Is New in Genetic Cardiomyopathies
Reza, N., Musunuru, K., & OWENS, A. T. (2019) · Current Heart Failure Reports · doi:10.1007/s11897-019-00435-0 · Cited by 17
Maladaptive Contractility of 3D Human Cardiac Microtissues to Mechanical Nonuniformity
Wang, C., Koo, S., Park, M., Vangelatos, Z., Hoang, P., Conklin, B. R., Grigoropoulos, C. P., Healy, K. E., & Ma, Z. (2020) · Advanced Healthcare Materials · doi:10.1002/adhm.201901373 · Cited by 16
Identifying modifier genes for hypertrophic cardiomyopathy
Chen, Y., Xu, F., Munkhsaikhan, U., Boyle, C., Borcky, T., Zhao, W., Purevjav, E., Towbin, J. A., Liao, F., Williams, R. W., et al. (2020) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2020.05.006 · Cited by 16
Restricted Left Atrial Dilatation Can Visually Differentiate Cardiac Amyloidosis from Hypertrophic Cardiomyopathy
Higashi, H., Inoue, K., Inaba, S., Nakao, Y., Kinoshita, M., Miyazaki, S., Miyoshi, T., Akazawa, Y., Kawakami, H., Uetani, T., et al. (2021) · ESC Heart Failure · doi:10.1002/ehf2.13442 · Cited by 16
Cardiomyocyte‐GSK‐3β deficiency induces cardiac progenitor cell proliferation in the ischemic heart through paracrine mechanisms
Yusuf, A. M., Qaisar, R., Al‐Tamimi, A. O., Jayakumar, M. N., Woodgett, J. R., Koch, W. J., & Ahmad, F. (2021) · Journal of Cellular Physiology · doi:10.1002/jcp.30644 · Cited by 16
The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology
Savostyanov, K. V., Pushkov, A. A., Сергеевич, Ж. И., Mazanova, N. N., Trufanov, S., Pakhomov, A., Alexeeva, A., Sladkov, D., Asanov, A. Y., & Fisenko, А. P. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02319-4 · Cited by 16
Congenital myopathies are mainly associated with a mild cardiac phenotype
Petri, H., Wahbi, K., Witting, N., Køber, L., Bundgaard, H., Kamoun, E., Vellieux, G., Stojkovic, T., Béhin, A., Laforêt, P., et al. (2019) · Journal of Neurology · doi:10.1007/s00415-019-09267-3 · Cited by 16
Diagnostic value of the novel CMR parameter “myocardial transit-time” (MyoTT) for the assessment of microvascular changes in cardiac amyloidosis and hypertrophic cardiomyopathy
Chatzantonis, G., Bietenbeck, M., Florian, A. R., Meier, C., Stalling, P., Korthals, D., Reinecke, H., & Yılmaz, A. (2020) · Clinical Research in Cardiology · doi:10.1007/s00392-020-01661-6 · Cited by 16
Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department
Horgan, S., Kotwal, H., Malan, A., Sekhri, N., & Lopes, L. R. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2024-110208 · Cited by 15
Synthesis and Evaluation of 4-Hydroxycoumarin Imines as Inhibitors of Class II Myosins
Brawley, J., Etter, E., Heredia, D. J., Intasiri, A., Nennecker, K., Smith, J. D., Welcome, B. M., Brizendine, R. K., Gould, T. W., Bell, T. W., et al. (2020) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.0c01062 · Cited by 15
Anticoagulation in Cardiomyopathy: Unravelling the Hidden Threat and Challenging the Threat Individually
Zhu, X., Wang, Z., Ferrari, M. W., Ferrari‐Kuehne, K., Bulter, J., Xiu-ying, X., Zhou, Q., Zhang, Y., & Zhang, J. (2021) · ESC Heart Failure · doi:10.1002/ehf2.13597 · Cited by 17
Living With Hypertrophic Cardiomyopathy: A patient’s Perspective
Borsari, W., Davis, L., Meiers, E., Salberg, L. R., & McDonough, B. A. (2021) · Future Cardiology · doi:10.2217/fca-2021-0091 · Cited by 15
Arrhythmogenic Cardiomyopathy: Exercise Pitfalls, Role of Connexin-43, and Moving beyond Antiarrhythmics
Coscarella, I. L., Landim-Vieira, M., Pinto, J. R., & Chelko, S. P. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23158753 · Cited by 16
Feline myocardial transcriptome in health and in hypertrophic cardiomyopathy—A translational animal model for human disease
Joshua, J., Caswell, J., O’Sullivan, M. L., Wood, G. A., & Fonfara, S. (2023) · PLoS ONE · doi:10.1371/journal.pone.0283244 · Cited by 15
Sarcomeric versus Non-Sarcomeric HCM
Borrelli, F., Losi, M. A., Canciello, G., Todde, G., Perillo, E. F., Ordine, L., Frisso, G., Esposito, G., & Lombardi, R. (2023) · Cardiogenetics · doi:10.3390/cardiogenetics13020009 · Cited by 15
Myosin in autoinhibited off state(s), stabilized by mavacamten, can be recruited in response to inotropic interventions
Ma, W., del Rio, C. L., Qi, L., Prodanović, M., Mijailovich, S. M., Zambataro, C. A., Gong, H. M., Shimkunas, R., Gollapudi, S. K., Nag, S., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2314914121 · Cited by 17
Engines of change: Nonmuscle myosin II in mechanobiology
Garrido-Casado, M., Asensio-Juárez, G., Talayero, V. C., & Vicente‐Manzanares, M. (2024) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2024.102344 · Cited by 19
Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration
Lee, S., Roest, A. S. V., Blair, C. A., Kao, K. Y., Bremner, S. B., Childers, M. C., Pathak, D., Heinrich, P., Lee, D. C., Chirikian, O., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2318413121 · Cited by 16
Long-Term Outcomes of Patients With Apical Hypertrophic Cardiomyopathy Utilizing a New Risk Score
Ali, A. H., Gaballa, A., Akintoye, E. O., Jadam, S., Ramchand, J., Xu, B., Ospina, S., Thamilarasan, M., Smedira, N. G., Popović, Z., et al. (2024) · JACC Advances · doi:10.1016/j.jacadv.2024.101235 · Cited by 15
The “Padua classification” of cardiomyopathies: Combining pathobiological basis and morpho-functional remodeling
Corrado, D., Thiene, G., Bauce, B., Calore, C., Cipriani, A., Lazzari, M. D., Migliore, F., Marra, M. P., Pilichou, K., Rigato, I., et al. (2024) · International Journal of Cardiology · doi:10.1016/j.ijcard.2024.132571 · Cited by 17
Phenotypic variation and targeted therapy of hypertrophic cardiomyopathy using genetic animal models
Gannon, M. P., & Link, M. S. (2019) · Trends in Cardiovascular Medicine · doi:10.1016/j.tcm.2019.11.009 · Cited by 13
Transcriptomic Validation of the Protective Effects of Aqueous Bark Extract of Terminalia arjuna (Roxb.) on Isoproterenol-Induced Cardiac Hypertrophy in Rats
Kumar, G., Saleem, N., Kumar, S., Maulik, S. K., Ahmad, S., Sharma, M., & Goswami, S. K. (2019) · Frontiers in Pharmacology · doi:10.3389/fphar.2019.01443 · Cited by 15
Using Zebrafish to Analyze the Genetic and Environmental Etiologies of Congenital Heart Defects
Shrestha, R., Lieberth, J., Tillman, S., Natalizio, J., & Bloomekatz, J. E. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-981-15-2389-2_8 · Cited by 17
The etiology of cardiac hypertrophy in infants
Stegeman, R., Paauw, N. D., de Graaf, R., van Loon, R. L. E., Termote, J. U. M., & Breur, J. M. P. J. (2021) · Scientific Reports · doi:10.1038/s41598-021-90128-3 · Cited by 15
Post-mortem genetic investigation in sudden cardiac death victims: complete exon sequencing of forty genes using next-generation sequencing
Fadoni, J., Santos, A., & Cainé, L. (2022) · International Journal of Legal Medicine · doi:10.1007/s00414-021-02765-y · Cited by 15
De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy
Tsaturyan, A. K., Zaklyazminskaya, E. V., Polyak, M. E., Kopylova, G. V., Shchepkin, D. V., Kochurova, A. M., Gonchar, A. D., Kleymenov, S. Y., Koubassova, N. A., Bershitsky, S. Y., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms24010018 · Cited by 15
The predictive value of epicardial adipose tissue volume assessed by cardiac magnetic resonance for atrial fibrillation in patients with hypertrophic obstructive cardiomyopathy
Zhou, Y., Yu, M., Cui, J., Hu, F., Yang, Z., Yuan, J., & Qiao, S. (2021) · International journal of cardiac imaging · doi:10.1007/s10554-020-02092-0 · Cited by 15
Disease modelling and drug discovery for hypertrophic cardiomyopathy using pluripotent stem cells: how far have we come?
Lam, C. K., & Wu, J. C. (2018) · European Heart Journal · doi:10.1093/eurheartj/ehy388 · Cited by 15
Hypoxia Attenuates Pressure Overload‐Induced Heart Failure
Froese, N., Szaroszyk, M., Galuppo, P., Visker, J. R., Werlein, C., Korf‐Klingebiel, M., Berliner, D., Reboll, M. R., Hamouche, R., Gegel, S., et al. (2024) · Journal of the American Heart Association · doi:10.1161/jaha.123.033553 · Cited by 14
The Relationship between Cardiac Magnetic Resonance-Assessed Replacement and Interstitial Fibrosis and Ventricular Arrhythmias in Hypertrophic Cardiomyopathy
Karabinowska-Małocha, A., Dziewięcka, E. M., Banyś, P., Urbańczyk‐Zawadzka, M., Krupiński, M., Mielnik, M., Łach, J., Budkiewicz, A., Podolec, P. S., Żydzik, Ł., et al. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12020294 · Cited by 14
Myosins and MyomiR Network in Patients with Obstructive Hypertrophic Cardiomyopathy
Foglieni, C., Lombardi, M., Lazzeroni, D., Zerboni, R., Lazzarini, E., Bertoli, G. R., Pisano, A., Girolami, F., Andolfo, A., Magagnotti, C., et al. (2022) · Biomedicines · doi:10.3390/biomedicines10092180 · Cited by 13
Cardiopulmonary Exercise Testing in Pediatric Patients With Hypertrophic Cardiomyopathy
Edelson, J. B., Stanley, H. M., Min, J., Burstein, D. S., Lane-Fall, M. B., O’Malley, S., Shah, M. J., McBride, M. G., Stephens, P., Griffis, H. M., et al. (2022) · JACC Advances · doi:10.1016/j.jacadv.2022.100107 · Cited by 13
The Value of Myocardial Fibrosis Parameters Derived from Cardiac Magnetic Resonance Imaging in Risk Stratification for Patients with Hypertrophic Cardiomyopathy
Yu, T., Cai, Z., Yang, Z., Lin, W., Su, Y. A., Li, J., Xie, S., & Shen, J. (2023) · Academic Radiology · doi:10.1016/j.acra.2022.12.026 · Cited by 14
Metoprolol or Verapamil in the Management of Patients With Hypertrophic Cardiomyopathy: A Systematic Review
Taha, M., Dahat, P., Toriola, S. L., Satnarine, T., Zohara, Z., Adelekun, A., Seffah, K. D., Salib, K., Dardari, L., & Franchini, A. P. A. (2023) · Cureus · doi:10.7759/cureus.43197 · Cited by 14
Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation
Guo, G., Wang, L., Li, X., Fu, W., Cao, J., Zhang, J., Liu, Y., Liu, M., Wang, M., Zhao, G., et al. (2023) · Cell Calcium · doi:10.1016/j.ceca.2023.102822 · Cited by 14
Modeling cardiomyocyte signaling and metabolism predicts genotype-to-phenotype mechanisms in hypertrophic cardiomyopathy
Khalilimeybodi, A., Saucerman, J. J., & Rangamani, P. (2024) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2024.108499 · Cited by 14
Genetic Mutations and Mitochondrial Redox Signaling as Modulating Factors in Hypertrophic Cardiomyopathy: A Scoping Review
Menezes, A. D. S., Silva, A. L. G. D. F. E., de Oliveira, H. L., de Lima, K. B. A., Porto, I. D. O. P., Pedroso, T. M. A., Silva, D. D. M. E., & Freitas, A. F. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25115855 · Cited by 14
The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies
Dewars, E. R., & Landstrom, A. P. (2024) · Annual Review of Medicine · doi:10.1146/annurev-med-042423-042903 · Cited by 16
Mitochondrial transplantation rescues Ca2+ homeostasis imbalance and myocardial hypertrophy in SLC25A3-related hypertrophic cardiomyopathy
Li, S., Zhang, J., Fu, W., Cao, J., Li, Z., Tian, X., Yang, M., Zhao, J., Wang, C., Liu, Y., et al. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.115065 · Cited by 14
Real-World Experience of Mavacamten for Patients With Obstructive Hypertrophic Cardiomyopathy in South Korea: A Prospective Multi-Center Observational Study
Lim, J., Cho, J. Y., Kwak, S., Park, C. S., Park, J., Choi, H., Cho, G., Choi, G. H., Kim, J., Na, J. O., et al. (2025) · Korean Circulation Journal · doi:10.4070/kcj.2024.0443 · Cited by 14
Genotype-negative hypertrophic cardiomyopathy: Exploring the role of cardiovascular risk factors in disease expression
Schoonvelde, S. A. C., Nollet, E. E., Zwetsloot, P.-P. M., Knackstedt, C., Germans, T., Hirsch, A., Schinkel, A. F. L., van Slegtenhorst, M. A., Verhagen, J. M. A., de Boer, R. A., et al. (2025) · International Journal of Cardiology · doi:10.1016/j.ijcard.2025.133444 · Cited by 14
Citri reticulatae Pericarpium attenuates Ang II-induced pathological cardiac hypertrophy via upregulating peroxisome proliferator-activated receptors gamma
Ni, G., Wang, K., Zhou, Y., Wu, X., Wang, J., Shang, H., Wang, L., & Li, X. (2020) · Annals of Translational Medicine · doi:10.21037/atm-20-2118 · Cited by 14
Identification of circulating hub long noncoding RNAs associated with hypertrophic cardiomyopathy using weighted correlation network analysis
Guo, Q., Wang, J., Sun, R., Gu, W., He, Z., Chen, Q., Liu, W., Chen, Y., Wang, J., & Zhang, Y. (2020) · Molecular Medicine Reports · doi:10.3892/mmr.2020.11566 · Cited by 14
The genetic basis of sudden death in young people – Cardiac and non-cardiac
Li, F., Yin, P., & Xu, Z. (2021) · Gene · doi:10.1016/j.gene.2021.146067 · Cited by 14
Prevalence, characteristics, and natural history of apical phenotype in a large cohort of patients with hypertrophic cardiomyopathy
Rouskas, P., Zegkos, T., Ntelios, D., Gossios, T. D., Parcharidou, D. G., Papanastasiou, C. A., Karamitsos, T. D., Vassilikos, V., Kouskouras, K., & Efthimiadis, G. K. (2023) · Hellenic Journal of Cardiology · doi:10.1016/j.hjc.2023.02.004 · Cited by 14
Metalloproteinases and Hypertrophic Cardiomyopathy: A Systematic Review
Serraino, G. F., Jiritano, F., Costa, D., Ielapi, N., Napolitano, D., Mastroroberto, P., Bracale, U. M., Andreucci, M., & Serra, R. (2023) · Biomolecules · doi:10.3390/biom13040665 · Cited by 14
Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy
Huang, S., Tian, P., Wei, W., Xu, R., & Wu, Y. (2019) · The Journal of Gene Medicine · doi:10.1002/jgm.3146 · Cited by 14
Identification of Potential miRNA-mRNA Regulatory Network Contributing to Hypertrophic Cardiomyopathy (HCM)
Wang, L., Lu, F., & Xu, J. (2021) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2021.660372 · Cited by 14
Experimental Models of Hypertrophic Cardiomyopathy
van den Dolder, F. W., Dinani, R., Warnaar, V. A. J., Vuckovic, S., Passadouro, A. S., Nassar, A. A., Ramsaroep, A. X., Burchell, G. B., Schoonmade, L. J., van der Velden, J., et al. (2025) · JACC Basic to Translational Science · doi:10.1016/j.jacbts.2024.10.017 · Cited by 14
Single-cell polygenic risk scores dissect cellular and molecular heterogeneity of complex human diseases
Zhang, S., Shu, H., Zhou, J., Rubin-Sigler, J., Yang, X. J., Liu, Y., Cooper‐Knock, J., Monte, E., Zhu, C., Tu, S., et al. (2025) · Nature Biotechnology · doi:10.1038/s41587-025-02725-6 · Cited by 20
Ventricular Arrhythmia in Septal and Apical Hypertrophic Cardiomyopathy: The French-Canadian Experience
Steinberg, C., Nadeau‐Routhier, C., André, P., Philippon, F., SARRAZIN, J., Nault, I., O’Hara, G. E., Blier, L. E., Molin, F., Plourde, B., et al. (2020) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2020.548564 · Cited by 13
The Involvement of ALPK3 in Hypertrophic Cardiomyopathy in East Asia
Dai, J., Li, K., Huang, M., Sun, Y., Liu, H., Li, Z., Chen, P., Wang, H., Wu, D., Chen, Y., et al. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2022.915649 · Cited by 13
Current Therapies for Hypertrophic Cardiomyopathy: A Systematic Review and Meta-Analysis of the Literature
Bayonas‐Ruiz, A., Muñoz‐Franco, F. M., Molina, M. S., Oliva‐Sandoval, M. J., Gimeno, J. R., & Bonacasa, B. (2022) · ESC Heart Failure · doi:10.1002/ehf2.14142 · Cited by 13
A maladaptive feedback mechanism between the extracellular matrix and cytoskeleton contributes to hypertrophic cardiomyopathy pathophysiology
Viola, H. M., Richworth, C. M., Solomon, T., Chin, I. L., Szappanos, H. C., Sundararaj, S., Shishmarev, D., Casarotto, M. G., Choi, Y. S., & Hool, L. C. (2023) · Communications Biology · doi:10.1038/s42003-022-04278-9 · Cited by 13
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Cava, F., Micolonghi, C., Musumeci, B., Petrucci, S., Savio, C., Fabiani, M., Tini, G., Germani, A., Libi, F., Rossi, C., et al. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2023.1112759 · Cited by 13
Angiotensin II-induced calcium overload affects mitochondrial functions in cardiac hypertrophy by targeting the USP2/MFN2 axis
Fu, D., Luo, J., Wu, Y., Zhang, L., Li, L., Chen, H., Wen, T., Fu, Y., & Xiong, W. (2023) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2023.111938 · Cited by 13

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
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2017-09-15
Volume: 121
Issue: 7
Pages: 749-770
ISSN: 0009-7330 (ISSN-L)
1524-4571
DOI: 10.1161/circresaha.117.311059
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

Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks