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October 23, 2015Cardiology

The overall predictive accuracy of ECG-guided genotyping was 79% (157/200), increasing to 98% (42/43) when family-based ECG assessment was performed.

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Why the study?

Does ECG-guided genotyping accurately predict the genetic mutation in Chinese patients with long QT syndrome?

Population

230 Chinese patients with a clinical diagnosis of long QT syndrome (LQTS), mean age 26 ± 17 years, 66% female.

Comparison

ECG-guided genotyping and family-based ECG… vs Mutational screening of candidate genes

Design

Cross-sectional

Authors

YGYuanfeng GaoCLCuilan LiXQXiaoliang Qiu

Discussion

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Member takes

Overview

May aid ECG-guided genotyping for LQTS in Chinese patients; hypothesis-generating pending prospective validation.

Structured PICO

Does ECG-guided genotyping accurately predict the genetic mutation in Chinese patients with long QT syndrome?

P
Population
230 Chinese patients with a clinical diagnosis of long QT syndrome (LQTS), mean age 26 ± 17 years, 66% female.
I
Intervention
ECG-guided genotyping (predicting LQT1-3 based on genotype-specific ECG patterns) and family-based ECG assessment
C
Comparator
Mutational screening of candidate genes (gold standard)
O
Outcome
Predictive accuracy of ECG-guided genotyping for LQT1-3 mutationssurrogate

ECG-guided genotyping, especially when family-based, is a highly accurate and cost-effective approach for predicting genotypes in Chinese patients with long QT syndrome.

Cite This Study

Gao et al. (2015) studied this question.

synapsesocial.com/papers/6a85647468d2ad262cd594f2https://doi.org/10.1159/000440608
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome2012 · 12 citations
  2. 2Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing2014 · 8 citations
  3. 3Long QT Syndrome Patients With Mutations of the SCN5A and HERG Genes Have Differential Responses to Na + Channel Blockade and to Increases in Heart Rate1995 · 819 citations
  4. 4Role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome2001 · 29 citations
  5. 5Genetically Defined Therapy of Inherited Long-QT Syndrome1996 · 315 citations