Evidence map›Paper›PMID 29622001›Full record

ArticleBMC medical genetics2018

Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

Mikael Koponen, Aki S Havulinna, Annukka Marjamaa, Annukka M Tuiskula, Veikko Salomaa, Päivi J Laitinen-Forsblom, Kirsi Piippo, Lauri Toivonen, Kimmo Kontula, Matti Viitasalo and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 31% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 10 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 2 countries.

Mikael KoponenHeart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland. mikael.koponen@helsinki.fi.ORCID 0000-0003-1757-7386
Aki S HavulinnaDepartment of Health, National Institute for Health and Welfare, Helsinki, Finland.
Annukka MarjamaaHeart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland.
Annukka M TuiskulaDepartment of Medicine, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
Veikko SalomaaDepartment of Health, National Institute for Health and Welfare, Helsinki, Finland.
Päivi J Laitinen-Forsblomsynlab Humane Genetik Munich, Munich, Germany.
Kirsi PiippoDepartment of Genetics, United Medix Laboratories Ltd, Helsinki, Finland.
Lauri ToivonenHeart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland.
Kimmo KontulaDepartment of Medicine, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
Matti ViitasaloHeart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland.
Heikki SwanHeart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland.
Helsinki University Hospital · FIFinnish Institute for Health and Welfare · FISynlab (Germany) · DEUnited Medix Laboratories (Finland) · FIUniversity of Helsinki · FI

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLong QT syndrome (LQTS) is an inherited cardiac disorder predisposing to sudden cardiac death (SCD). We studied factors affecting the clinical course of genetically confirmed patients, in particular those not receiving β-blocker treatment. In addition, an attempt was made to associate risk of events to specific types of KCNQ1 and KCNH2 mutations.

methodsA follow-up study covering a mean of 18.6 ± 6.1 years was conducted in 867 genetically confirmed LQT1 and LQT2 patients and 654 non-carrier relatives aged 18-40 years. Cox regression models were used to evaluate the contribution of clinical and genetic risk factors to cardiac events.

resultsIn mutation carriers, risk factors for cardiac events before initiation of β-blocker included LQT2 genotype (hazard ratio [HR] = 2.1, p = 0.002), female gender (HR = 3.2, p < 0.001), a cardiac event before the age of 18 years (HR = 5.9, p < 0.001), and QTc ≥500 ms (vs < 470 ms, HR = 2.7, p = 0.001). LQT1 patients carrying the KCNQ1 D317N mutation were at higher risk (HR = 3.0-3.9, p < 0.001-0.03) compared to G589D, c.1129-2A > G and other KCNQ1 mutation carriers after adjusting for gender, QTc duration, and cardiac events before age 18. KCNH2 c.453delC, L552S and R176W mutations associated with lower risk (HR = 0.11-0.23, p < 0.001) than other KCNH2 mutations.

conclusionsLQT2 (compared to LQT1), female gender, a cardiac event before age 18, and long QT interval increased the risk of cardiac events in LQTS patients aged 18 to 40 years. The nature of the underlying mutation may be associated with risk variation in both LQT1 and LQT2. The identification of high-risk and low-risk mutations may enhance risk stratification.

Indexed as

MutationAdrenergic beta-AntagonistsAdultERG1 Potassium ChannelFemaleFollow-Up StudiesGenetic Predisposition to DiseaseHumansKCNQ1 Potassium ChannelLong QT SyndromeMalePrognosisRegression AnalysisRisk FactorsRomano-Ward SyndromeYoung AdultAdrenergic beta-AntagonistsERG1 Potassium ChannelKCNH2 protein, humanKCNQ1 Potassium ChannelKCNQ1 protein, humanCardiac arrhythmiaImplantable cardioverter-defibrillatorLong QT syndromeRisk stratificationβ-blocker

Identifiers

PMID29622001
PMCPMC5887247
OpenAlexW2805597162

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.