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.
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“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]
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“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]
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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.
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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
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
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