The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
Open accessAbstract
Background— Mutations in SCN5A are identified in ≈20% to 30% of probands affected by Brugada syndrome (BrS). However, in familial studies, the relationship between SCN5A mutations and BrS remains poorly understood. The aim of this study was to investigate the association of SCN5A mutations and BrS in a group of large genotyped families. Methods and Results— Families were included if at least 5 family members were carriers of the SCN5A mutation, which was identified in the proband. Thirteen large families composed of 115 mutation carriers were studied. The signature type I ECG was present in 54 mutation carriers (BrS-ECG+; 47%). In 5 families, we found 8 individuals affected by BrS but with a negative genotype (mutation-negative BrS-ECG+). Among these 8 mutation-negative BrS-ECG+ individuals, 3, belonging to 3 different families, had a spontaneous type I ECG, whereas 5 had a type I ECG only after the administration of sodium channel blockers. One of these 8 individuals had also experienced syncope. Mutation carriers had, on average, longer PR and QRS intervals than noncarriers, demonstrating that these mutations exerted functional effects. Conclusions— Our results suggest that SCN5A mutations are not directly causal to the occurrence of a BrS-ECG+ and that genetic background may play a powerful role in the pathophysiology of BrS. These findings add further complexity to concepts regarding the causes of BrS, and are consistent with the emerging notion that the pathophysiology of BrS includes various elements beyond mutant sodium channels.
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Antzelevitch, C., Pollevick, G. D., Cordeiro, J. M., Casis, O., Sanguinetti, M. C., Aizawa, Y., Guerchicoff, A., Pfeiffer, R., Oliva, A., Wollnik, B., et al. (2007) · Circulation · doi:10.1161/circulationaha.106.668392 · Cited by 933
Cited by
Al-Khatib, S. M., Stevenson, W. G., Ackerman, M. J., Bryant, W. J., Callans, D. J., Curtis, A. B., Deal, B. J., Dickfeld, T., Field, M. E., Fonarow, G. C., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000548 · Cited by 412
Wilde, A. A. M., Semsarian, C., Márquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., Sternick, E. B., Barajas-Martinez, H., Behr, E. R., Bezzina, C. R., et al. (2022) · Europace · doi:10.1093/europace/euac030 · Cited by 380
Self-citationLampert, R., Chung, E. H., Ackerman, M. J., Arroyo, A. R., Darden, D., Deo, R., Dolan, J., Etheridge, S. P., Gray, B. R., Harmon, K. G., et al. (2024) · Heart Rhythm · doi:10.1016/j.hrthm.2024.05.018 · Cited by 167
Genotype phenotype associations across the voltage-gated sodium channel family
Brunklaus, A., Ellis, R., Reavey, E., Semsarian, C., & Zuberi, S. M. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102608 · Cited by 92
Metadata
- Authors
- Probst, V., Wilde, A. A. M., Barc, J., Sacher, F., Babuty, D., Mabo, P., Mansourati, J., Le Scouarnec, S., Kyndt, F., Le Caignec, C., Guicheney, P., Gouas, L., Albuisson, J., Meregalli, P. G., Le Marec, H., Tan, H. L., & Schott, J.-J.
- Venue
- Circulation: Cardiovascular Genetics
- Published
- 2009-12
- Volume
- 2
- Issue
- 6
- Pages
- 552-557
- ISSN
- 1942-325X (ISSN-L)
- 1942-3268
- OpenAlex
- W2137694665
- Cited by
- 319
- References
- 1
- FWCI
- 8.30
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Probst, V., Wilde, A. A. M., Barc, J., Sacher, F., Babuty, D., Mabo, P., Mansourati, J., Le Scouarnec, S., Kyndt, F., Le Caignec, C., Guicheney, P., Gouas, L., Albuisson, J., Meregalli, P. G., Le Marec, H., Tan, H. L., & Schott, J.-J. (2009). SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome. Circulation: Cardiovascular Genetics. https://doi.org/10.1161/circgenetics.109.853374
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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.
