The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy
Open accessAbstract
OBJECTIVES We investigated cardiac energetics in subjects with mutations in three different familial hypertrophic cardiomyopathy (HCM) disease genes, some of whom were nonpenetrant carriers without hypertrophy, using phosphorus-31 magnetic resonance spectroscopy. BACKGROUND Familial hypertrophic cardiomyopathy is caused by mutations in sarcomeric protein genes. The mechanism by which these mutant proteins cause disease is uncertain. A defect of myocyte contractility had been proposed, but in vitro studies of force generation have subsequently shown opposing results in different classes of mutation. An alternative hypothesis of "energy compromise" resulting from inefficient utilization of adenosine triphosphate (ATP) has been suggested, but in vivo data in humans with genotyped HCM are lacking. METHODS The cardiac phosphocreatine (PCr) to ATP ratio was determined at rest in 31 patients harboring mutations in the genes for either beta-myosin heavy chain, cardiac troponin T, or myosin-binding protein C, and in 24 controls. Transthoracic echocardiography was used to measure left ventricular (LV) dimensions and maximal wall thickness. RESULTS The PCr/ATP was reduced in the HCM subjects by 30% relative to controls (1.70 +/- 0.43 vs. 2.44 +/- 0.30; p < 0.001), and the reduction was of a similar magnitude in all three disease-gene groups. The PCr/ATP was equally reduced in subjects with (n = 24) and without (n = 7) LV hypertrophy. CONCLUSIONS Our data provide evidence of a bioenergetic deficit in genotype-confirmed HCM, which is present to a similar degree in three disease-gene groups. The presence of energetic abnormalities, even in those without hypertrophy, supports a proposed link between altered cardiac energetics and development of the disease phenotype.
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.
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
Maron, B. J., Gardin, J. M., Flack, J. M., Gidding, S. S., Kurosaki, T. T., & Bild, D. E. (1995) · Circulation · doi:10.1161/01.cir.92.4.785 · Cited by 2,275
Wallimann, T., Wyss, M., Brdiczka, D., Nicolay, K., & Eppenberger, H. M. (1992) · Biochemical Journal · doi:10.1042/bj2810021 · Cited by 2,011
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
Self-citationThe AMP‐Activated Protein Kinase: Fuel Gauge of the Mammalian Cell?
Hardie, D. G., & Carling, D. (1997) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1997.00259.x · Cited by 1,317
Thierfelder, L., Watkins, H., MacRae, C., Lamas, R., McKenna, W., Vosberg, H.-P., Seldman, J. G., & Seidman, C. E. (1994) · Cell · doi:10.1016/0092-8674(94)90054-x · Cited by 1,034
Self-citationNiimura, H., Bachinski, L. L., Sangwatanaroj, S., Watkins, H., Chudley, A. E., McKenna, W., Kristinsson, A., Roberts, R., Sole, M., Maron, B. J., et al. (1998) · New England Journal of Medicine · doi:10.1056/nejm199804303381802 · Cited by 761
Self-citationWatkins, H., Rosenzweig, A., Hwang, D.-S., Levi, T., McKenna, W., Seidman, C. E., & Seidman, J. G. (1992) · New England Journal of Medicine · doi:10.1056/nejm199204233261703 · Cited by 747
Self-citationNeubauer, S., Horn, M., Cramer, M., Harre, K., Newell, J. B., Peters, W., Pabst, T., Ertl, G., Hahn, D., Ingwall, J. S., et al. (1997) · Circulation · doi:10.1161/01.cir.96.7.2190 · Cited by 745
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
Gollob, M. H., Green, M. S., Tang, A. S.-L., Gollob, T., Karibe, A., Hassan, A.-S., Ahmad, F., Lozado, R., Shah, G., Fananapazir, L., et al. (2001) · New England Journal of Medicine · doi:10.1056/nejm200106143442403 · Cited by 671
Watkins, H., Conner, D., Thierfelder, L., Jarcho, J. A., MacRae, C., McKenna, W. J., Maron, B. J., Seidman, J. G., & Seidman, C. E. (1995) · Nature Genetics · doi:10.1038/ng1295-434 · Cited by 590
Self-citation
Cited by
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Marian, A. J., & Braunwald, E. (2017) · Circulation Research · doi:10.1161/circresaha.117.311059 · Cited by 1,403
Is the Failing Heart Energy Starved?: On Using Chemical Energy to Support Cardiac Function
Ingwall, J. S., & Weiss, R. G. (2004) · Circulation Research · doi:10.1161/01.res.0000137170.41939.d9 · Cited by 604
Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion
Ashrafian, H., Redwood, C., Blair, E., & Watkins, H. (2003) · Trends in Genetics · doi:10.1016/s0168-9525(03)00081-7 · Cited by 349
Self-citationToepfer, C. N., Garfinkel, A. C., Venturini, G., Wakimoto, H., Repetti, G., Alamo, L., Sharma, A., Agarwal, R., Ewoldt, J. K., Cloonan, P., et al. (2020) · Circulation · doi:10.1161/circulationaha.119.042339 · Cited by 325
Self-citationHo, C. Y., Abbasi, S. A., Neilan, T. G., Shah, R. V., Chen, Y., Heydari, B., Cirino, A. L., Lakdawala, N. K., Orav, E. J., González, A., et al. (2013) · Circulation: Cardiovascular Imaging · doi:10.1161/circimaging.112.000333 · Cited by 260
Metadata
- Authors
- Crilley, J. G., Boehm, E. A., Blair, E., Rajagopalan, B., Blamire, A. M., Styles, P., McKenna, W. J., Östman-Smith, I., Clarke, K., & Watkins, H.
- Venue
- Journal of the American College of Cardiology
- Publisher
- Elsevier BV
- Published
- 2003-05
- Volume
- 41
- Issue
- 10
- Pages
- 1776-1782
- ISSN
- 0735-1097 (ISSN-L)
- OpenAlex
- W2096579994
- Cited by
- 438
- References
- 34
- FWCI
- 9.43
- Type
- journal article
- Language
- en
- Open access
- bronze
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. https://app.cochat.ai/papers/10.1016/s0735-1097(02)03009-7
- The paper
- Crilley, J. G., Boehm, E. A., Blair, E., Rajagopalan, B., Blamire, A. M., Styles, P., McKenna, W. J., Östman-Smith, I., Clarke, K., & Watkins, H. (2003). Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. Journal of the American College of Cardiology. https://doi.org/10.1016/s0735-1097(02)03009-7
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
