The DOI matches its Crossref record; 98 of the 98 references it cites were found in a registry or an index.
Impact of Genetics on the Clinical Management of Channelopathies
Open accessAbstract
There are few areas in cardiology where the impact of genetics and of genetic testing on clinical management has been as great as in cardiac channelopathies, arrhythmic disorders of genetic origin related to the ionic control of the cardiac action potential. Among the growing number of diseases identified as channelopathies, three are sufficiently prevalent to represent significant clinical and societal problems and to warrant adequate understanding by practicing cardiologists: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome. This review will focus selectively on the impact of genetic discoveries on clinical management of these three diseases. For each disorder, we will discuss to what extent genetic knowledge and clinical genetic test results modify the way cardiologists should approach and manage affected patients. We will also address the optimal use of genetic testing including its potential limitations and the potential medico-legal implications when such testing is not performed. We will highlight how important can be to understand the ways by which genotype can impact clinical manifestations, risk stratification, and responses to the therapy. We will also illustrate the close bridge between molecular biology and clinical medicine, and will emphasize that consideration of the genetic basis for these hereditable arrhythmia syndromes, as well as the proper use and interpretation of clinical genetic testing, should remain the standard-of-care.
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Cites
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A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
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Self-citationPositional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
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Self-citationSCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
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Self-citationRisk Stratification in the Long-QT Syndrome
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“However, there are 3 particular domains/clusters encoded by 16 exons where two-thirds of the current CPVT1-associated mutations localize and all published mutations currently reside within less than half of RYR2’s exons (56,57).”
BackgroundDiagnostic criteria for the long QT syndrome. An update.
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Cited by
European Resuscitation Council Guidelines 2021: Epidemiology of cardiac arrest in Europe
Gräsner, J.-T., Herlitz, J., Tjelmeland, I. B. M., Wnent, J., Masterson, S., Lilja, G., Bein, B., Böttiger, B. W., Rosell-Ortiz, F., Nolan, J. P., et al. (2021) · Resuscitation · doi:10.1016/j.resuscitation.2021.02.007 · Cited by 745
Long-QT Syndrome: From Genetics to Management
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Self-citationJ-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge
Antzelevitch, C., Yan, G.-X., Ackerman, M. J., Borggrefe, M., Corrado, D., Guo, J., Gussak, I., Hasdemir, C., Horie, M., Huikuri, H., et al. (2016) · Heart Rhythm · doi:10.1016/j.hrthm.2016.05.024 · Cited by 621
Self-citationRisk stratification for sudden cardiac death: Current status and challenges for the future
Wellens, H. J. J., Schwartz, P. J., Lindemans, F. W., Buxton, A. E., Goldberger, J. J., Hohnloser, S. H., Huikuri, H. V., Kaab, S., La Rovere, M. T., Malik, M., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/ehu176 · Cited by 405
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Metadata
- Authors
- Schwartz, P. J., Ackerman, M. J., George, A. L., & Wilde, A. A. M.
- Venue
- Journal of the American College of Cardiology
- Publisher
- Elsevier BV
- Published
- 2013-07
- Volume
- 62
- Issue
- 3
- Pages
- 169-180
- ISSN
- 0735-1097 (ISSN-L)
- OpenAlex
- W2047827544
- Cited by
- 318
- References
- 98
- FWCI
- 24.79
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Schwartz, P. J., Ackerman, M. J., George, A. L., & Wilde, A. A. M. (2013). Impact of Genetics on the Clinical Management of Channelopathies. Journal of the American College of Cardiology. https://doi.org/10.1016/j.jacc.2013.04.044
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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.
