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Updated: Apr 4, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Revisiting the challenges of universal screening for long QT syndrome
1Division of Pediatric Cardiology, 81 N. Mario Capecchi Drive, Salt Lake City, UT, USA; Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah School of Medicine, 95 S. 2000 E, Salt Lake City, UT, USA.
Abstract:
The incidence of long QT syndrome (LQTS) is generally believed to be approximately 1:2500 individuals. Given the relatively common nature of this disorder, the observation that sudden cardiac death is often a presenting symptom and the highly treatable nature of the disease, LQTS meets common criteria for the design of a universal screening program. In spite of multiple lines of evidence (international experience, cost-benefit simulations) suggesting that universal screening for LQTS is feasible and effective, there remains considerable debate and controversy surrounding the implementation of universal LQTS screening in the United States. Here, we describe some of the challenges and potential novel solutions to the practical implementation of LQTS screening.
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