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El síndrome de QT largo (SQTL) es una canalopatía hereditaria que favorece el desarrollo de arritmias ventriculares. Se han descrito hasta 16 genes involucrados en el desarrollo del SQTL, de manera que se asocia un amplio espectro clínico que dificulta su manejo terapéutico. Este trabajo estudia la población pediátrica asturiana diagnosticada de SQTL para describir sus características, espectro fenotípico-genético y tratamiento.
Se identificaron 27 casos de SQTL en Área Sanitaria IV, la población afectada fue mayoritariamente masculina, de etnia gitana e identificada a través de otros familiares afectados. Los principales espectros fueron SQTL1-KCNQ1, SQTL2-KCNH2 y SQTL3-SCN5A, siendo de más alto riesgo los dos primeros. Hubo predominancia del SQTL2-KCNH2 debido a la mutación p.Gly262AlasTer98, muy bien conservada en la etnia gitana y que se describe por primera vez en esta población. Estos pacientes recibieron tratamiento con betabloqueantes, principalmente bisoprolol y propranolol. Este estudio destaca la diversidad genética y fenotípica del SQTL en Asturias, enfatizando la necesidad de una vigilancia y tratamiento adecuados para la prevención de eventos letales.
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