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Article

Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2.

Canadian journal of physiology and pharmacology - 1 Dec 2010

Cordeiro Jonathan M, Perez Guillermo J, Schmitt Nicole, Pfeiffer Ryan, Nesterenko Vladislav V, Burashnikov Elena, Veltmann Christian, Borggrefe Martin, Wolpert Christian, Schimpf Rainer, Antzelevitch Charles

Abstract excerpt

Long QT syndrome (LQTS) is an inherited disorder characterized by prolonged QT intervals and potentially life-threatening arrhythmias. Mutations in 12 different genes have been associated with LQTS. Here we describe a patient with LQTS who has a mutation in KCNQ1 as well as a polymorphism in KCNH2. The proband (MMRL0362), a 32-year-old female, exhibited multiple ventricular extrasystoles and one syncope. Her ECG...

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Source

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Identifiers

PMID: 21164565
DOI: 10.1139/Y10-094
PMCID: PMC3076201

Genes

KCNH2
KCNQ1

Variants

Provenance

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