What is the clinical evidence from this study?

Study design: Case Report. Population: Drug-induced long-QT syndrome (n=1). Intervention: Cisapride. Primary outcome: Identification and functional characterization of genetic mutation.

What does this research mean for the field?

A novel subclinical missense mutation (L1825P) in the SCN5A gene predisposes individuals to drug-induced long-QT syndrome by exhibiting both gain- and loss-of-function electrophysiological features. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

The study aims to explore the link between subclinical mutations in SCN5A and drug-induced long-QT syndrome.

September 3, 2002CirculationOpen Access

Drug-Induced Long-QT Syndrome Associated With a Subclinical SCN5A Mutation

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Key result

A novel subclinical missense mutation (L1825P) in the SCN5A gene was identified in a patient with cisapride-induced long-QT syndrome, demonstrating both gain- and loss-of-function features.

Why the study?

Does a subclinical SCN5A mutation predispose to drug-induced long-QT syndrome?

Population

An elderly Japanese woman with documented QT prolongation and torsade de pointes during treatment with…

Design

Case_report

Authors

NMNaomasa MakitaElectrophysiology MHMinoru HorieElectrophysiology TNTakeshi NakamuraKyoto Prefectural University of Medicine

Discussion

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Implication

May support SCN5A testing in unexplained drug-induced LQTS; leaves open need for validation before screening changes practice.

Key Points

The study aims to explore the link between subclinical mutations in SCN5A and drug-induced long-QT syndrome.
An elderly woman with drug-induced QT prolongation underwent mutational analysis of LQTS-related genes.
A novel missense mutation (L1825P) was identified in the SCN5A gene.
Functional analyses of the L1825P mutation were conducted in tsA-201 cells.
The identified L1825P mutation exhibited both gain-of-function and loss-of-function characteristics.
Peak Na+ current density in cells with L1825P was significantly reduced.
Voltage dependence of activation and inactivation shifted positively and negatively, respectively.

Study Design

Type

Case Report (n=1)

Structured PICO

Does a subclinical SCN5A mutation predispose to drug-induced long-QT syndrome?

Population

An elderly Japanese woman with documented QT prolongation and torsade de pointes during treatment with cisapride, and tsA-201 cells expressing the L1825P mutation.

Intervention

Mutational analysis of LQTS-related genes and in vitro electrophysiological characterization of the L1825P mutation.

Outcome

Identification and functional characterization of the SCN5A mutation.surrogate

Subclinical mutations in the SCN5A gene may predispose individuals to drug-induced long-QT syndrome and life-threatening arrhythmias.

Cite This Study

Makita et al. (2002) conducted a case report in Drug-induced long-QT syndrome (n=1). Cisapride was evaluated on Identification and functional characterization of genetic mutation. A novel subclinical missense mutation (L1825P) in the SCN5A gene was identified in a patient with cisapride-induced long-QT syndrome, demonstrating both gain- and loss-of-function features.

synapsesocial.com/papers/6a1c734e4d97451bbd2fc057 https://doi.org/10.1161/01.cir.0000027139.42087.b6

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Drug-Induced Long-QT Syndrome Associated With a Subclinical SCN5A Mutation

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Drug-Induced Long-QT Syndrome Associated With a Subclinical SCN5A Mutation

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Cite This Study

Also Consider

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