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Article

Heterogeneous Phenotype of Long QT Syndrome Caused by the KCNH2-H562R Mutation: Importance of Familial Genetic Testing.

Revista espanola de cardiologia (English ed.) - 1 Oct 2015

Muñoz-Esparza Carmen, García-Molina Esperanza, Salar-Alcaraz Mariela, Peñafiel-Verdú Pablo, Sánchez-Muñoz Juan J, Martínez Sánchez Juan, Cabañas-Perianes Valentín, Valdés Chávarri Mariano, García Alberola Arcadio, Gimeno-Blanes Juan R

Abstract excerpt

INTRODUCTION AND OBJECTIVES: Long QT syndrome is an inherited ion channelopathy that leads to syncope and sudden death. Because of the heterogeneous phenotype of this disease, genetic testing is fundamental to detect individuals with concealed long QT syndrome. In this study, we determined the features of a family with 13 carriers of the KCNH2-H562R missense mutation, which affects the pore region of the HERG...

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Source

Identifiers

PMID: 25819988
DOI: 10.1016/j.rec.2014.10.022

Genes

KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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