Evidence map›Paper›PMID 29661707›Full record

ReviewTrends in cardiovascular medicine2018

The genetic architecture of long QT syndrome: A critical reappraisal.

John R Giudicessi, Arthur A M Wilde, Michael J Ackerman

Open access · greenAbstract readReview
In one paragraph

Review in Trends in cardiovascular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
56citing papers in PubMed, 2 pooled it
11.1field-weighted citation impact, top 1% 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

56 citing papers in PubMed, 2 syntheses or guidelines pooled it, 129 citations in OpenAlex.

  1. A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis.Journal of the Association for Research in Otolaryngology : JARO · 2025
    Pooled it
  2. Guideline
  3. Gender-specific cardiac features in Andersen-Tawil syndrome: a comprehensive meta-analysis of case reports and series.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing · 2026
    Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. MOG1medRxiv : the preprint server for health sciences · 2025
    Article
  9. Article
  10. Article
  11. Reappraisal ofReviews in cardiovascular medicine · 2025
    Review
  12. Review
  13. Article
  14. International journal of molecular sciences · 2024
    Article
  15. Proof of concept for monoclonal antibody therapy in a cellular model of acquired long QT syndrome type 3.American journal of physiology. Heart and circulatory physiology · 2024
    Article
  16. Article
  17. Article
  18. Article
  19. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 2 countries.

John R GiudicessiDepartment of Cardiovascular Medicine (Cardiovascular Diseases Fellowship and Clinician-Investigator Training Programs), Mayo Clinic, Rochester, MN, United States.
Arthur A M WildeDepartment of Medicine (Division of Cardiology), Columbia University Irving Medical Center, New York, NY, United States; Department of Clinical & Experimental Cardiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Michael J AckermanDepartments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN, United States. Electronic address: ackerman.michael@mayo.edu.
Mayo Clinic · USColumbia University Irving Medical Center · US

Funding

Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)R01HD042569 · NICHD · MAYO CLINIC ROCHESTER · PI ACKERMAN, MICHAEL JOHN · 2002 to 2017
$6.9M
NICHD NIH HHS R01 HD042569
6 · The paper itself

Abstract

Collectively, the completion of the Human Genome Project and subsequent development of high-throughput next-generation sequencing methodologies have revolutionized genomic research. However, the rapid sequencing and analysis of thousands upon thousands of human exomes and genomes has taught us that most genes, including those known to cause heritable cardiovascular disorders such as long QT syndrome, harbor an unexpected background rate of rare, and presumably innocuous, non-synonymous genetic variation. In this Review, we aim to reappraise the genetic architecture underlying both the acquired and congenital forms of long QT syndrome by examining how the clinical phenotype associated with and background genetic variation in long QT syndrome-susceptibility genes impacts the clinical validity of existing gene-disease associations and the variant classification and reporting strategies that serve as the foundation for diagnostic long QT syndrome genetic testing.

Indexed as

Genetic VariationMolecular Diagnostic TechniquesAnimalsDeath, Sudden, CardiacGenetic MarkersGenetic Predisposition to DiseaseHumansLong QT SyndromePhenotypePredictive Value of TestsRisk AssessmentRisk FactorsGenetic MarkersArrhythmiaGenetic testingGenetic variationLong QT syndromeSudden cardiac death

Identifiers

PMID29661707
PMCPMC6590899
OpenAlexW2794455530

What OpenQuestion holds

Textmetadata
LicenceTDM
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.