LQT5

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Long QT Syndrome Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]

Overview

LQT5 subtype of long QT syndrome is an autosomal dominant mutation that leads to a defect in the potassium channel. In its rare homozygous form it can cause Jervell and Lange-Nielsen syndrome.

LQT5 Subtype

Type OMIM Mutation
LQT5 176261 beta subunit MinK (or KCNE1) which coassembles with KvLQT1

Genetics and Pathophysiology

LQT5 is an autosomal dominant relatively uncommon form of LQTS. It involves mutations in the gene KCNE1 which encodes for the potassium channel beta subunit MinK. In its rare homozygous forms it can lead to Jervell and Lange-Nielsen syndrome. As in LQT1, LQT5 can lead to a decreased excretion of potassium from the cell and will show prolongation of the QT interval on EKG.

History and Symptoms

Therapy

References

  1. Compton SJ, Lux RL, Ramsey MR, Strelich KR, Sanguinetti MC, Green LS, Keating MT, Mason JW. Genetically defined therapy of inherited long-QT syndrome. Correction of abnormal repolarization by potassium. Circulation. 1996 Sep 1;94(5):1018-22. PMID 8790040