Video Experimental Relacionado

Updated: Jul 25, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Published on: December 1, 2017

Pérdida fetal recurrente en el tercer trimestre y mosaicismo materno para el síndrome de QT largo

Todd E Miller¹, Elicia Estrella, Robert J Myerburg

¹Department of Medicine (Division of Cardiology), University of Miami School of Medicine, Miami Fla, USA.

|June 9, 2004

Resumen

El mosaicismo de la línea germinal en las mutaciones de SCN5A puede causar síndrome de QT largo grave recurrente (LQTS) en la descendencia, incluso en madres asintomáticas. Esto pone de relieve la necesidad de asesoramiento genético en casos de pérdida fetal inexplicable o muerte infantil.

Área de la Ciencia:

Genética La genética.
Cardiología Cardiología.
La Medicina Reproductiva es una de ellas.

Sus antecedentes:

El mosaicismo de la línea germinal se reconoce cada vez más en las enfermedades genéticas, lo que podría explicar el 10-20% de los casos de novo.
El síndrome del intervalo QT largo (LQTS) es una arritmia cardíaca hereditaria grave.
El gen SCN5A codifica un canal crítico de sodio cardíaco involucrado en la regulación del ritmo cardíaco.

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