What question did this study set out to answer?

Investigate the genetic and electrophysiological basis of an overlapping LQT1 and LQT2 electrocardiographic phenotype in a patient with long QT syndrome.

December 1, 2010Canadian Journal of Physiology and PharmacologyOpen Access

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

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Population

1 32-year-old female patient with Long QT syndrome exhibiting multiple ventricular extrasystoles and…

Design

Case_report

Authors

JCJonathan M. CordeiroUniversidad Complutense de Madrid GPGuillermo J. PérezUniversitat de Girona NSNicole SchmittStatens Serum Institut

Discussion

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Implication

A combined LQT1 and LQT2 phenotype can result from the synergistic effect of a loss-of-function mutation in KCNQ1 and a loss-of-function polymorphism in KCNH2, reducing both IKs and IKr currents.

Key Points

Investigate the genetic and electrophysiological basis of an overlapping LQT1 and LQT2 electrocardiographic phenotype in a patient with long QT syndrome.
Sequenced all exons and intron boundaries of seven long QT syndrome susceptibility genes using genomic DNA isolated from a 32-year-old female patient.
Expressed wild-type and mutant Kv7.1 (V110I with KCNE1) and Kv11.1 (K897T) channels in CHO-K1 cells and recorded ionic currents using patch-clamp electrophysiology (n = 8 cells per group).
KCNQ1 V110I co-expressed with KCNE1 demonstrated a significant reduction in both developing and tail current densities compared with wild-type at potentials >+20 mV (p < 0.05, n = 8 cells per group).
KCNH2 K897T channels exhibited significantly reduced tail current density compared with wild-type Kv11.1 at potentials >+10 mV, along with shifted channel availability (V0.5 = -53.1 ± 1.13 mV vs -60.7 ± 1.15 mV; p < 0.05).

Structured PICO

Population

1 32-year-old female patient with Long QT syndrome (LQTS) exhibiting multiple ventricular extrasystoles and syncope (QTc = 518ms), and CHO-K1 cells expressing WT or mutant (V110I Kv7.1, K897T Kv11.1) channels.

Comparator

Wild-type (WT) channels (for the in vitro patch-clamp analysis)

Outcome

Current-voltage (I-V) relations and tail current densities of mutant versus wild-type channelssurrogate

A combined LQT1 and LQT2 phenotype can result from the synergistic effect of a loss-of-function mutation in KCNQ1 and a loss-of-function polymorphism in KCNH2, reducing both IKs and IKr currents.

Cite This Study

Cordeiro et al. (2010) studied this question.

synapsesocial.com/papers/6a6ff13331a3df8243283c30 https://doi.org/10.1139/y10-094

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Implication

A combined LQT1 and LQT2 phenotype can result from the synergistic effect of a loss-of-function mutation in KCNQ1 and a loss-of-function polymorphism in KCNH2, reducing both IKs and IKr currents.

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

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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