The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects
Open accessAbstract
AIMS: The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM). As prominent trabeculations were described in some carriers, we screened for the E101K mutation in our index patients with HCM, dilated cardiomyopathy (DCM), or left ventricular non-compaction (LVNC). METHODS AND RESULTS: Clinical, echocardiographic, and genetic screening by restriction fragment length polymorphism of the ACTC E101K mutation in 247 families with HCM, DCM, or LVNC. The mutation was found in five index patients (one with LVNC and four with HCM). Clinical and morphological data were obtained from 94 family members. Forty-six individuals had cardiomyopathy (43 with the mutation and three with no genetic study): 23 fulfilled criteria for LVNC, 22 were diagnosed as apical HCM, and one had been diagnosed as restrictive cardiomyopathy. There had been one heart transplant and one congestive heart failure death in patients with severe diastolic dysfunction, and five premature sudden deaths. The E101K mutation was not found in 48 unaffected relatives. Septal defects (eight atrial and one ventricular) were found in nine mutant carriers from four families, and were absent in relatives without the mutation (P = 0.003). CONCLUSION: LVNC and HCM may appear as overlapping entities. The ACTC E101K mutation should be considered in the genetic diagnosis of LVNC, apical HCM, and septal defects.
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., Towbin, J. A., Thiene, G., Antzelevitch, C., Corrado, D., Arnett, D., Moss, A. J., Seidman, C. E., & Young, J. B. (2006) · Circulation · doi:10.1161/circulationaha.106.174287 · Cited by 3,436
Litt, M., & Luty, J. A. (1989) · PubMed · Cited by 1,962
Jenni, R., Oechslin, E., Schneider, J., Jost, C. A., & Kaufmann, P. A. (2001) · Heart · doi:10.1136/heart.86.6.666 · Cited by 1,549
Isolated noncompaction of left ventricular myocardium. A study of eight cases.
Chin, T. K., Perloff, J. K., Williams, R. G., Jue, K., & Mohrmann, R. (1990) · Circulation · doi:10.1161/01.cir.82.2.507 · Cited by 1,418
Oechslin, E. N., Attenhofer Jost, C. H., Rojas, J. R., Kaufmann, P. A., & Jenni, R. (2000) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(00)00755-5 · Cited by 1,211
Actin Binding Proteins: Regulation of Cytoskeletal Microfilaments
Dos Remedios, C. G., Chhabra, D., Kekic, M., Dedova, I. V., Tsubakihara, M., Berry, D. A., & Nosworthy, N. J. (2003) · Physiological Reviews · doi:10.1152/physrev.00026.2002 · Cited by 1,056
Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy
Kamisago, M., Sharma, S. D., DePalma, S. R., Solomon, S., Sharma, P., McDonough, B., Smoot, L., Mullen, M. P., Woolf, P. K., Wigle, E. D., et al. (2000) · New England Journal of Medicine · doi:10.1056/nejm200012073432304 · Cited by 720
Maron, B. (2003) · European Heart Journal · doi:10.1016/s0195-668x(03)00479-2 · Cited by 698
Clinical features of isolated noncompaction of the ventricular myocardium
Ichida, F., Hamamichi, Y., Miyawaki, T., Ono, Y., Kamiya, T., Akagi, T., Hamada, H., Hirose, O., Isobe, T., Yamada, K., et al. (1999) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(99)00170-9 · Cited by 674
Echocardiographic measurements in normal subjects from infancy to old age.
Henry, W. L., Gardin, J. M., & Ware, J. H. (1980) · Circulation · doi:10.1161/01.cir.62.5.1054 · Cited by 631
Cited by
Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction
Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hürlimann, D., Yegitbasi, M., Pons, L., et al. (2008) · Circulation · doi:10.1161/circulationaha.107.746164 · Cited by 451
Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?
Oechslin, E., & Jenni, R. (2011) · European Heart Journal · doi:10.1093/eurheartj/ehq508 · Cited by 429
Congenital heart disease and risk of cardiovascular disease: a meta-analysis of cohort studies
Wang, T., Chen, L., Yang, T., Huang, P., Wang, L., Zhao, L., Zhang, S., Ye, Z., Chen, L., Zheng, Z., et al. (2019) · Journal of the American Heart Association · doi:10.1161/jaha.119.012030 · Cited by 177
The Impact of Mechanical Forces in Heart Morphogenesis
Granados-Riveron, J. T., & Brook, J. D. (2012) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.111.961086 · Cited by 90
Copeland, O., Messer, A., Jabbour, A., Poggesi, C., Prasad, S., & Marston, S. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.00241 · Cited by 3
Metadata
- Authors
- Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., & Castro-Beiras, A.
- Venue
- European Heart Journal
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-02-06
- Volume
- 28
- Issue
- 16
- Pages
- 1953-1961
- ISSN
- 0195-668X (ISSN-L)
- 1522-9645
- OpenAlex
- W2169575327
- Cited by
- 264
- References
- 19
- FWCI
- 12.96
- 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: Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. https://app.cochat.ai/papers/10.1093/eurheartj/ehm239
- The paper
- Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., & Castro-Beiras, A. (2007). Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. European Heart Journal. https://doi.org/10.1093/eurheartj/ehm239
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.
