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June 18, 2012Clinical Genetics

A heterozygous mutation (p.H258P) in KCNQ1 was identified in 12 family members, all of whom had prolonged QTc intervals, though only two were symptomatic, and 7 were stratified as high risk (QTc ≥500 ms).

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Population

A large Saudi family with long QT syndrome, including a proband presenting with syncope and 11 other family…

Design

Case_series

Authors

ZSZMA ShinwariAAA. Al-HazzaniNDNduna Dzimiri

Discussion

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Overview

Extended family screening in LQTS is crucial to identify silent carriers of high-risk mutations, such as the novel KCNQ1 p.H258P mutation, to guide preventive interventions.

Structured PICO

P
Population
A large Saudi family with long QT syndrome, including a proband presenting with syncope and 11 other family members identified as carriers.
I
Intervention
Clinical and genetic screening for KCNQ1, KCNH2, SCN5A genes and LQTS modifiers (rs4657139, rs16847548, KCNE1-D85N)
O
Outcome
Identification of genetic mutations and correlation with symptoms and QTc intervalssurrogate

Extended family screening in LQTS is crucial to identify silent carriers of high-risk mutations, such as the novel KCNQ1 p.H258P mutation, to guide preventive interventions.

Cite This Study

Shinwari et al. (2012) studied this question.

synapsesocial.com/papers/6a915fda85dcbcf0c3dd4509https://doi.org/10.1111/j.1399-0004.2012.01914.x
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Also Consider

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

  1. 1Mutations at <i>KCNQ1</i> and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing2010 · 4 citations
  2. 2Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes2016 · 15 citations
  3. 3Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing2014 · 8 citations
  4. 4Mutation Analysis in Congenital Long QT Syndrome—A Case with Missense Mutations in <i>KCNQ1</i> and <i>SCN5A</i>2003 · 26 citations
  5. 5Mutation Screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A Genes in a Long QT Syndrome Family2007 · 9 citations