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Article

Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit.

Heart rhythm - 1 Jun 2020

Garmany Ramin, Giudicessi John R, Ye Dan, Zhou Wei, Tester David J, Ackerman Michael J

Abstract excerpt

BACKGROUND: KCNE1 loss-of-function variants cause type 5 long QT syndrome (LQT5). However, most alleged LQT5-causative KCNE1 variants were identified before the true rate of background genetic variation was appreciated fully. OBJECTIVE: The purpose of this study was to reassess the clinical and electrophysiological (EP) phenotypes associated with KCNE1 variants detected in a single-center LQTS cohort. METHODS:...

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Identifiers

PMID: 32058015
DOI: 10.1016/j.hrthm.2020.02.003

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