Evidence map›Paper›PMID 28336205›Full record

ArticleJournal of cardiology2017

Andersen-Tawil syndrome: Clinical presentation and predictors of symptomatic arrhythmias - Possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene.

Michalina Krych, Elżbieta Katarzyna Biernacka, Joanna Ponińska, Piotr Kukla, Artur Filipecki, Robert Gajda, Can Hasdemir, Charles Antzelevitch, Agnieszka Kosiec, Małgorzata Szperl and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Journal of cardiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
1.1field-weighted citation impact, top 21% 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

11 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Review
  6. Review
  7. Catheter ablation of frequent monomorphic ventricular arrhythmias in Andersen-Tawil syndrome: case report and focused literature review.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing · 2023
    Review
  8. Article
  9. Article
  10. Case Report: A NovelFrontiers in genetics · 2021
    Article
  11. Article
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

14 authors at 5 institutions in 3 countries.

Michalina KrychDepartment of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland. Electronic address: krych.michalina@gmail.com.
Elżbieta Katarzyna BiernackaDepartment of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland.
Joanna PonińskaDepartment of Molecular Biology, Institute of Cardiology, Warsaw, Poland.
Piotr KuklaDepartment of Cardiology and Internal Medicine, Specialistic Hospital, Gorlice, Poland.
Artur FilipeckiFirst Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
Robert GajdaMedical Centre Gajda-Med, Pułtusk, Poland.
Can HasdemirDepartment of Cardiology, Ege University School of Medicine, Izmir, Turkey.
Charles AntzelevitchLankenau Institute for Medical Research, Wynnewood, PA, USA.
Agnieszka KosiecDepartment of Molecular Biology, Institute of Cardiology, Warsaw, Poland.
Małgorzata SzperlDepartment of Molecular Biology, Institute of Cardiology, Warsaw, Poland.
Rafał PłoskiDepartment of Medical Genetics, Warsaw Medical University, Poland.
Maria Trusz-GluzaFirst Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
Katarzyna Mizia-StecFirst Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.
Piotr HoffmanDepartment of Congenital Cardiac Defects, Institute of Cardiology, Warsaw, Poland.
Institute of Cardiology · PLMedical University of Silesia · PLEge University · TRLankenau Institute for Medical Research · USMedical University of Warsaw · PL

Funding

ELECTRICAL HETEROGENEITY AND CARDIAC ARRHYTHMIASR01HL047678 · NHLBI · MASONIC MEDICAL RESEARCH LABORATORY, INC · PI ANTZELEVITCH, CHARLES · 1993 to 2014
$5.7M
NHLBI NIH HHS R01 HL047678
6 · The paper itself

Abstract

backgroundAndersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. It is characterized by arrhythmias, neurological symptoms, and dysmorphic features. The present study retrospectively examined the characteristics of 11 unrelated families with ATS.

methodsThis study consisted of 11 probands positive for KCNJ2 variants and 33 family members (mean age 30.0±17.3 years, female n=31). Additional genetic screening of 3 LQTS genes (KCNQ1, KCNH2, SCN5A) was performed in 9 families. Predictors of arrhythmias [premature ventricular beats>2000/24h, biventricular and polymorphic ventricular tachycardia (VT)], syncope, and/or cardiac arrest (CA) were evaluated.

resultsIn KCNJ2 mutation carriers vs non-carriers (n=25 vs n=19) significant differences were observed in U-wave manifestations in V2-V4, T

conclusionA higher risk of arrhythmia, syncope, and/or CA is associated with the presence of micrognathia, periodic paralysis, and prolonged T

Indexed as

AdolescentAdultAndersen SyndromeChildChild, PreschoolERG1 Potassium ChannelFemaleGenetic TestingHeart ArrestHumansMaleMicrognathismMiddle AgedNAV1.5 Voltage-Gated Sodium ChannelPolymorphism, GeneticSyncopeERG1 Potassium ChannelKCNH2 protein, humanNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanAndersen-Tawil syndromeArrhythmiaK897T polymorphismLong QT syndrome

Identifiers

PMID28336205
PMCPMC5607087
OpenAlexW2600682084

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

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.