Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

doi:10.1161/CIRCGENETICS.113.000023

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Article

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

Circulation. Cardiovascular genetics - 1 Aug 2013

Duchatelet Sabine, Crotti Lia, Peat Rachel A, Denjoy Isabelle, Itoh Hideki, Berthet Myriam, Ohno Seiko, Fressart Véronique, Monti Maria Cristina, Crocamo Cristina, Pedrazzini Matteo, Dagradi Federica, Vicentini Alessandro, Klug Didier, Brink Paul A, Goosen Althea, Swan Heikki, Toivonen Lauri, Lahtinen Annukka M, Kontula Kimmo, Shimizu Wataru, Horie Minoru, George Alfred L, Trégouët David-Alexandre, Guicheney Pascale, Schwartz Peter J

Abstract excerpt

BACKGROUND: Long-QT syndrome (LQTS) is characterized by such striking clinical heterogeneity that, even among family members carrying the same mutation, clinical outcome can range between sudden death and no symptoms. We investigated the role of genetic variants as modifiers of risk for cardiac events in patients with LQTS. METHODS AND RESULTS: In a matched case-control study including 112 patient duos with LQTS...

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Identifiers

PMID: 23856471
DOI: 10.1161/CIRCGENETICS.113.000023
PMCID: PMC3864834

Genes

KCNQ1
KCNH2

Provenance

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