Trial reportCirculation2020
An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
Open access · bronzeAbstract readClinical TrialComparative StudyMulticenter Study
In one paragraph
Trial report in Circulation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
5.8field-weighted citation impact, top 3% of its field
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.
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.
Who cites it
30 citing papers in PubMed, 58 citations in OpenAlex.
- Long QT Syndrome Type 5 With Coexisting KCNE1 and RYR2 Variants: A Diagnostic Ambiguity.Clinical case reports · 2026Article
- Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population.International journal of molecular sciences · 2026Article
- Updated penetrance estimates for recurrent copy number variants - an improved definition and formula.European journal of human genetics : EJHG · 2026Article
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- From Misdiagnosis to Recognition: Torsades de Pointes Masquerading as Non-sustained Ventricular Tachycardia.Cureus · 2025Article
- Clinical, Electrical, and Mechanical Parameters in Potassium Channel-Mediated Congenital Long QT Syndrome.Journal of clinical medicine · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome.Cell discovery · 2025Review
- Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome.Nature communications · 2024Article
- High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.Genome medicine · 2024Article
- Stem cell models of inherited arrhythmias.Nature cardiovascular research · 2024Review
- [Cardiogenetics in Germany- a view and review].Herzschrittmachertherapie & Elektrophysiologie · 2024Review
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Human Genetics of Cardiac Arrhythmias.Advances in experimental medicine and biology · 2024Review
- Heart Disease and Stroke Statistics-2023 Update: A Report From the American Heart Association.Circulation · 2023Review
- Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.Expert reviews in molecular medicine · 2023Review
- A Possible Explanation for the Low Penetrance of Pathogenic KCNE1 Variants in Long QT Syndrome Type 5.Pharmaceuticals (Basel, Switzerland) · 2022Article
- Genetics of congenital arrhythmia syndromes: the challenge of variant interpretation.Current opinion in genetics & development · 2022Review
- Genetic variants in Colombian patients with inherited cardiac conditions.Molecular genetics & genomic medicine · 2022Article
- One family's clinical odyssey from evolving phenotypic and genotypic knowledge of catecholaminergic polymorphic ventricular tachycardia and long QT syndrome.HeartRhythm case reports · 2022Article
Corrections and comments
- Commented on by
Authors and funding
59 authors at 1 institution in 1 country.
Jason D RobertsSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).
S Yukiko AsakiDepartment of Pediatrics, University of Utah, and Primary Children's Hospital, Salt Lake City (S.Y.A., S.P.E.).
Andrea MazzantiMolecular Cardiology, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico and Department of Molecular Medicine, University of Pavia, Italy (A.M., D.K., S.G.P.).
J Martijn Bos
Izabela TuletaEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Alison R MuirNorthern Ireland Inherited Cardiac Conditions Service, Belfast City Hospital, United Kingdom (A.R.M.).
Lia CrottiEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Andrew D KrahnHeart Rhythm Services, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada (A.D.K., T.M.R.).
Valentina KutyifaClinical Cardiovascular Research Center, University of Rochester Medical Center, NY (V.K., W.Z.).
M Benjamin ShoemakerDepartment of Cardiovascular Medicine, Division of Heart Rhythm Services, Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (M.B., J.R.G., M.J.A.).
Christopher L JohnsrudeDivision of Pediatric Cardiology, Department of Pediatrics, University of Louisville, KY (C.L.J.).
Takeshi AibaDepartment of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan (T.A., K.S., W.S.).
Luciana MarcondesCardiac Inherited Disease Group New Zealand, Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland (L.M., J.R.S.).
Anwar BabanEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Sharmila UdupaChildren's Hospital of Eastern Ontario, Department of Pediatrics, University of Ottawa, Canada (S.U., R.M.G.).
Brynn DechertDivision of Cardiology, Department of Pediatrics, University of Michigan Children's Hospital, University of Michigan, Ann Arbor (B.D.).
Peter FischbachChildren's Healthcare of Atlanta, Sibley Heart Center Cardiology, GA (P.F., L.M.K.).
Linda M KnightChildren's Healthcare of Atlanta, Sibley Heart Center Cardiology, GA (P.F., L.M.K.).
Eric VittinghoffDepartment of Epidemiology and Biostatistics (E.V.), University of California San Francisco.
Deni KukavicaMolecular Cardiology, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico and Department of Molecular Medicine, University of Pavia, Italy (A.M., D.K., S.G.P.).
Birgit StallmeyerEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
John R GiudicessiDepartment of Cardiovascular Medicine, Division of Heart Rhythm Services, Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (M.B., J.R.G., M.J.A.).
Carla SpazzoliniEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Keiko ShimamotoDepartment of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan (T.A., K.S., W.S.).
Rafik TadrosCardiovascular Genetics Center, Montreal Heart Institute, Université de Montréal, Quebec, Canada (R.T., J., C.-T.).
Julia Cadrin-TourignyCardiovascular Genetics Center, Montreal Heart Institute, Université de Montréal, Quebec, Canada (R.T., J., C.-T.).
Henry J DuffDepartment of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, Cumming School of Medicine, University of Calgary, Canada (H.J.D.).
Christopher S SimpsonDivision of Cardiology, Queen's University, Kingston, Ontario, Canada (C.S.S.).
Thomas M RostonHeart Rhythm Services, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, Canada (A.D.K., T.M.R.).
Yanushi D WijeyeratneEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Imane El HajjajiSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).
Maisoon D YousifSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).
Lorne J GulaSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).
Peter Leong-SitSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, Ontario, Canada (J.D.R., I.E.H., M.D.Y., L.J.G., P.L.-S.).
Nikhil ChavaliDepartments of Medicine (M.B.S., N.C., D.M.R.), Vanderbilt University Medical Center, Nashville, TN.
Andrew P LandstromDepartment of Pediatrics, Division of Pediatric Cardiology, and Department of Cell Biology, Duke University School of Medicine, Durham, NC (A.P.L.).
Gregory M MarcusAmsterdam University Medical Centre, location AMC, Heart Center, Department of Clinical and Experimental Cardiology, The Netherlands (G.M.M., A.A.M.W.).
Sven DittmannEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Arthur A M WildeEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Elijah R BehrEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Jacob Tfelt-HansenEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Melvin M ScheinmanDepartment of Medicine, Division of Cardiology, Section of Cardiac Electrophysiology M.M.S.), University of California San Francisco.
Marco V PerezDivision of Cardiovascular Medicine, Stanford University School of Medicine, CA (M.V.P.).
Juan Pablo KaskiEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Robert M GowChildren's Hospital of Eastern Ontario, Department of Pediatrics, University of Ottawa, Canada (S.U., R.M.G.).
Fabrizio DragoEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Peter F AzizDepartment of Pediatric Cardiology, Cleveland Clinic, OH (P.F.A.).
Dominic J AbramsInherited Cardiac Arrhythmia Program, Boston Children's Hospital, Harvard Medical School, MA (D.J.A.).
Michael H GollobDepartment of Physiology and Department of Medicine, Toronto General Hospital, University of Toronto, Ontario, Canada (M.H.G.).
Jonathan R SkinnerCardiac Inherited Disease Group New Zealand, Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland (L.M., J.R.S.).
Wataru ShimizuDepartment of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan (T.A., K.S., W.S.).
Elizabeth S KaufmanThe Heart and Vascular Research Center, Metro-Health Campus, Case Western Reserve University, Cleveland, OH (E.S.K.).
Dan M RodenDepartments of Medicine (M.B.S., N.C., D.M.R.), Vanderbilt University Medical Center, Nashville, TN.
Wojciech ZarebaClinical Cardiovascular Research Center, University of Rochester Medical Center, NY (V.K., W.Z.).
Peter J SchwartzEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Eric Schulze-BahrEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (A.M., I.T., L.C., A.B., D.K., B.S., C.S., Y.D.W., S.D., A.A.M.W., E.R.B., J.T.-H., J.P.K., F.D., P.J.S., E.S.-B., S.G.P.).
Susan P EtheridgeDepartment of Pediatrics, University of Utah, and Primary Children's Hospital, Salt Lake City (S.Y.A., S.P.E.).
Silvia G PrioriMolecular Cardiology, Istituti Clinici Scientifici Maugeri, Istituto di Ricovero e Cura a Carattere Scientifico and Department of Molecular Medicine, University of Pavia, Italy (A.M., D.K., S.G.P.).
Michael J AckermanDepartment of Cardiovascular Medicine, Division of Heart Rhythm Services, Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (M.B., J.R.G., M.J.A.).
Nippon Medical School · JP
Funding
Clinical and Translational Science Collaborative of ClevelandUL1TR002548 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI MCCOMSEY, GRACE A · 2018 to 2022
$35.5MThe Role of Junctophilin Type 2 in Cardiac Node AutomaticityK08HL136839 · NHLBI · DUKE UNIVERSITY · PI LANDSTROM, ANDREW P. · 2017 to 2021
$769kCIHR MOP-142218CIHR SRG-15-P09-001NCATS NIH HHS UL1 TR002548NHLBI NIH HHS K08 HL136839
Abstract
backgroundInsight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare
methodsPatients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries.
resultsA total of 32 distinct
conclusionsThe present study suggests that putative/confirmed loss-of-function
Indexed as
Long QT SyndromePenetranceRegistriesAdolescentAdultDeath, Sudden, CardiacElectric CountershockElectrocardiographyFemaleHeart ArrestHumansMaleMiddle AgedPotassium Channels, Voltage-GatedKCNE1 protein, humanPotassium Channels, Voltage-Gatedarrhythmiageneticslong QT syndromepenetrancesudden cardiac death
Identifiers
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.