Key result
Genetic testing for cardiac ion channelopathies is most informative following careful phenotypic characterization and can guide prevention and treatment modalities.
Genetic testing for cardiac ion channelopathies is informative for risk stratification and guiding prevention and treatment strategies in affected individuals and their families.
Supports phenotypic characterization before ion channel genetic testing; leaves open broader screening utility.
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.
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Modell et al. (2012) conducted a review in Cardiac ion channelopathies (long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome). Cardiac ion channel mutational analysis (genetic testing) was evaluated. Genetic testing for cardiac ion channelopathies is most informative following careful phenotypic characterization and can guide prevention and treatment modalities.
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