domingo, 6 de mayo de 2012

Genetic testing for long QT syndrome and the category of cardiac ion channelopathies – PLoS Currents Evidence on Genomic Tests

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Genetic testing for long QT syndrome and the category of cardiac ion channelopathies – PLoS Currents Evidence on Genomic Tests

Genetic testing for long QT syndrome and the category of cardiac ion channelopathies

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Abstract

Cardiac ion channel mutational analysis is a category of genetic testing used in clinical practice for determining the status of long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome genes in blood, saliva, or tissue from patients and family members at risk for cardiac events such as syncope and sudden death. Such testing is most informative following careful phenotypic characterization. Individuals with ion channelopathies may benefit from prevention (avoidance of triggers and predisposing drugs) and treatment (e.g., beta blocker therapy, implantable cardioverter-defibrillator (ICD) placement) modalities.

Funding Statement

Funding for this project was made possible by the National Office of Public Health Genomics, Centers for Disease Control and Prevention through McKing Consulting Corporation, contract # 200-2009-F-32675.

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