Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
January 1, 2001Annals of Noninvasive ElectrocardiologyOpen Access

QTc was as variable in carriers of the same mutation as it was among carriers with different HERG mutations (P = 0.19), and a strong association was found between QTc and the occurrence of cardiac events.

View Full Paper
Ask AI
Bookmark
Share

Population

469 individuals from 5 large LQTS families, each family with a different mutation of the HERG gene.

Design

Cohort

Follow-up

2 to 7 years

Authors

JBJesaia BenhorinAMArthur J. MossWZWojciech Zaręba

Discussion

Loading...

Member takes

Overview

QTc variability within identical HERG mutations was associated with events; supports modifier gene effects but leaves risk stratification open.

Structured PICO

P
Population
469 individuals from 5 large LQTS families (69% genotyped, 102 carriers), each family with a different mutation of the HERG gene (LQT2).
O
Outcome
QTc duration, frequency of cardiac events (syncope and LQTS-related cardiac arrest/death), and T-wave morphologysurrogate

The clinical expression of LQT2 is highly variable even among carriers of the same HERG mutation, suggesting that modifier genes significantly influence the phenotype.

Cite This Study

Benhorin et al. (2001) studied this question.

synapsesocial.com/papers/6a8848f4fc0635f4eccf0e28https://doi.org/10.1111/j.1542-474x.2001.tb00137.x
View Full Paper
Ask AI
Bookmark
Share

Also Consider

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

  1. 1Compound Mutations2004 · 316 citations
  2. 2Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients2006 · 45 citations
  3. 3Genotype–phenotype correlation in long QT syndrome families2015 · 3 citations
  4. 4Electrocardiographic Prediction of Abnormal Genotype in Congenital Long QT Syndrome: Experience in 101 Related Family Members2001 · 82 citations
  5. 5Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome2006 · 109 citations