Author Profile

Stephen M. Modell

Affiliation: Dissemination Activities Director, Center for Public Health and Community Genomics, University of Michigan School of Public Health Ann Arbor, MI

Recent Posts

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


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.