Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report
Rafael Tamayo-Trujillo,
Rita Ibarra-Castillo,
José Luis Laso-Bayas
et al.
Abstract:IntroductionLong QT syndrome (LQTS) is an autosomal dominant inherited cardiac condition characterized by a QT interval prolongation and risk of sudden death. There are 17 subtypes of this syndrome associated with genetic variants in 11 genes. The second most common is type 2, caused by a mutation in the KCNH2 gene, which is part of the potassium channel and influences the final repolarization of the ventricular action potential. This case report presents an Ecuadorian teen with congenital Long QT Syndrome typ… Show more
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