| When is genetic testing useful in patients suspected to have inherited cardiac arrhythmias? | |
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MedLine Citation:
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PMID: 19864943 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE OF REVIEW: In this article, we will review the appropriate use of genetic testing in those patients suspected to have inherited arrhythmogenic diseases, with specific focus on the indications for testing and the expected probability of positive genotyping. RECENT FINDINGS: Important advances have been made in the identification of new genes, associated mutations, and polymorphisms that modulate susceptibility of acquired arrhythmias. We will examine the most recent advances relevant to the rational application of genetic analysis, guided by genotype-phenotype correlations derived from disease and patient-specific evaluation, as well as discussing novel technologies and recently published cost-effectiveness data. SUMMARY: Genetic analysis can be performed to identify the molecular substrate in those patients suspected to be affected by an inherited arrhythmogenic disease; however, the clinical usefulness of this information is often not straightforward. We hope to emphasize the concept that there is a significant difference in the impact of genetic testing within the various arrhythmogenic disorders, and the benefit of accessing genetic testing is not the same in all patients. The resultant integration between the expected yield of genetic screening and cost may allow the formation of criteria to prioritize access for those who could derive the most clinical benefit. |
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Authors:
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Steven J Fowler; Carlo Napolitano; Silvia G Priori |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Current opinion in cardiology Volume: 25 ISSN: 1531-7080 ISO Abbreviation: Curr. Opin. Cardiol. Publication Date: 2010 Jan |
Date Detail:
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Created Date: 2009-12-09 Completed Date: 2010-02-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8608087 Medline TA: Curr Opin Cardiol Country: United States |
Other Details:
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Languages: eng Pagination: 37-45 Citation Subset: IM |
Affiliation:
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Cardiovascular Genetics Program, New York University Langone Medical Center, New York, New York 10016, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Arrhythmias, Cardiac
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genetics* Arrhythmogenic Right Ventricular Dysplasia / genetics Cost-Benefit Analysis Genetic Testing* Genotype Humans |
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