Variabilidad fenotípica y gravedad clínica inusual del síndrome congénito de QT largo en una población fundadora

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Updated: Jul 9, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Paul A Brink1, Lia Crotti, Valerie Corfield

  • 1Department of Internal Medicine, University of Stellenbosch, South Africa.

Circulation
|October 26, 2005
PubMed
Resumen

Este estudio sobre el síndrome congénito de QT largo (LQTS) encontró que la mutación KCNQ1-A341V, común en Sudáfrica, causa un fenotipo severo. Las frecuencias cardíacas más bajas en los portadores de la mutación se relacionaron con un menor riesgo de eventos cardíacos.

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