Interpreting the actionable clinical role of rare variants associated with short QT syndrome
Estefanía Martínez-Barrios,
Andrea Greco,
José Cruzalegui
et al.
Abstract:Genetic testing is recommended in the diagnosis of short QT syndrome. This rare inherited lethal entity is characterized by structural normal hearts with short QT intervals in the electrocardiogram. Few families diagnosed with this arrhythmogenic disease have been reported worldwide so far, impeding a comprehensive understanding of this syndrome. Unraveling the origin of the disease helps to the early identification of genetic carriers at risk. However, only rare variants with a definite deleterious role shoul… Show more
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