Trial reportCirculation2020
An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of
Open access · bronzeAbstract readClinical TrialMulticenter 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 47 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
47citing papers in PubMed, 1 pooled it
6.7field-weighted citation impact, top 2% 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
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Diagnosis and management of very rare primary arrhythmia syndromes in children and adults: a Clinical Consensus Statement of the European Heart Rhythm Association of the ESC and the Association of Cardiovascular Nursing & Allied Professions of the ESC, endorsed by the Association for European Paediatric and Congenital Cardiology.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Guideline
- Molecular mechanisms of sudden unexplained death and recent updates on molecular autopsy strategies for forensic investigation.International journal of legal medicine · 2026Review
- Crosstalk between Ryanodine Receptor 2 Dysfunction and FK506-Binding Proteins in Pulmonary Hypertension.Cardiovascular drugs and therapy · 2026Review
- A Homozygous Mutation (c.241G > A, p.A81T) in the Calsequestrin-2 Causes Eye Defects in Zebrafish.Biochemical genetics · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Identification of hub targets involved in carotid atherosclerosis through bioinformatics and machine learning approaches.BMC cardiovascular disorders · 2026Article
- The emerging role of calsequestrin 2: from calcium sensor and modulator to arrhythmia driver.Journal of physiology and biochemistry · 2026Review
- Leveraging the shared and opposing genetic mechanisms in the heritable cardiomyopathies.Research square · 2026Article
- Homozygous and heterozygous penetrance of a missenseHeartRhythm case reports · 2025Article
- Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.Asian heart journal · 2025Review
- Review
- Catecholaminergic polymorphic ventricular tachycardia and early-onset atrial fibrillation in a tactical athlete with a heterozygous truncating variant inHeartRhythm case reports · 2025Article
- Deep-time gene expression shift reveals an ancient change in avian muscle phenotypes.PLoS genetics · 2025Article
- A firefighter with polymorphic ventricular tachycardia and a heterozygous TRDN variant: Sports electrophysiology in action.HeartRhythm case reports · 2025Article
- Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing.Journal of human genetics · 2024Article
- JCS/JHRS 2022 Guideline on Diagnosis and Risk Assessment of Arrhythmia.Journal of arrhythmia · 2024Article
- Article
- Deep learning of left atrial structure and function provides link to atrial fibrillation risk.Nature communications · 2024Article
- Catecholaminergic Polymorphic Ventricular Tachycardia: Clinical Characteristics, Diagnostic Evaluation and Therapeutic Strategies.Journal of clinical medicine · 2024Review
- Integrative multi-omics summary-based mendelian randomization identifies key oxidative stress-related genes as therapeutic targets for atrial fibrillation and flutter.Frontiers in genetics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
50 authors at 20 institutions in 8 countries.
Kevin Ng *Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (K.N., J.W., A.S.T., A.C.S., J.M., J.D.R.).
Erron W Titus *Cardiovascular Research Institute (E.W.T., F.H.D., N.J.R., R.C.D.), University of California, San Francisco.
Krystien V Lieve *Amsterdam University Medical Centre, University of Amsterdam, Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.L., C.v.d.W., A.A.M.W.).
Thomas M Roston *Heart Rhythm Services, Division of Cardiology, Department of Medicine (T.M.R., A.D.K.), University of British Columbia, Vancouver, Canada.
Andrea Mazzanti *European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. Maltret, A.L., A.A.M.W., S.G.P.).
Frederick H DeiterCardiovascular Research Institute (E.W.T., F.H.D., N.J.R., R.C.D.), University of California, San Francisco.
Isabelle DenjoyEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. Maltret, A.L., A.A.M.W., S.G.P.).
Jodie InglesAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Australia (J.I., C. Semsarian).
Jan TillDepartment of Cardiology, Royal Brompton Hospital, London, United Kingdom (J.T., F.R.I.N.).
Tomas RobynsEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. Maltret, A.L., A.A.M.W., S.G.P.).
Sean P ConnorsSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Memorial University, St. John's, Newfoundland and Labrador, Canada (S.P.C., S.A.D.).
Christian SteinbergQuebec Heart and Lung Center, Laval University, Quebec City, Canada (C. Steinberg).
Dominic J AbramsInherited Cardiac Arrhythmia Program, Boston Children's Hospital, Harvard Medical School, MA (D.J.A.).
Benjamin PangArrhythmia Service, University of Ottawa Heart Institute, ON, Canada (B.P., M.S.G., J.R.).
Melvin M ScheinmanSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine (M.M.S., R.C.D.), University of California, San Francisco.
J Martijn BosDepartments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., M.J.A.).
Stephen A DuffettSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Memorial University, St. John's, Newfoundland and Labrador, Canada (S.P.C., S.A.D.).
Christian van der WerfAmsterdam University Medical Centre, University of Amsterdam, Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.L., C.v.d.W., A.A.M.W.).
Alice MaltretEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. Maltret, A.L., A.A.M.W., S.G.P.).
Martin S GreenArrhythmia Service, University of Ottawa Heart Institute, ON, Canada (B.P., M.S.G., J.R.).
Julie RutbergArrhythmia Service, University of Ottawa Heart Institute, ON, Canada (B.P., M.S.G., J.R.).
Seshadri BalajiDepartment of Pediatrics, Division of Cardiology, Oregon Health & Science University, Portland (S.B.).
Julia Cadrin-TourignyCardiovascular Genetics Center, Montreal Heart Institute, Université de Montréal, Canada (J.C.-T.).
Kate M OrlandUniversity of Wisconsin-Madison Inherited Arrhythmia Clinic, Division of Cardiovascular Medicine, Department of Medicine (K.M.O., C.T.J., L.L.E.), University of Wisconsin-Madison.
Linda M KnightChildren's Healthcare of Atlanta, Sibley Heart Center Cardiology, GA (L.M.K., P.F.).
Caitlin BratengChildren's Hospital Colorado, University of Colorado School of Medicine, Aurora (C.B., K.K.C.).
Jeremy WuSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (K.N., J.W., A.S.T., A.C.S., J.M., J.D.R.).
Anthony S TangSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (K.N., J.W., A.S.T., A.C.S., J.M., J.D.R.).
Allan C SkanesSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (K.N., J.W., A.S.T., A.C.S., J.M., J.D.R.).
Jaimie ManlucuSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (K.N., J.W., A.S.T., A.C.S., J.M., J.D.R.).
Jeff S HealeyPopulation Health Research Institute, McMaster University, Hamilton, ON, Canada (J.S.H.).
Craig T JanuaryUniversity of Wisconsin-Madison Inherited Arrhythmia Clinic, Division of Cardiovascular Medicine, Department of Medicine (K.M.O., C.T.J., L.L.E.), University of Wisconsin-Madison.
Andrew D KrahnHeart Rhythm Services, Division of Cardiology, Department of Medicine (T.M.R., A.D.K.), University of British Columbia, Vancouver, Canada.
Kathryn K CollinsChildren's Hospital Colorado, University of Colorado School of Medicine, Aurora (C.B., K.K.C.).
Kathleen R MaginotDepartment of Pediatrics, University of Wisconsin School of Medicine & Public Health, Madison (K.R.M.).
Peter FischbachChildren's Healthcare of Atlanta, Sibley Heart Center Cardiology, GA (L.M.K., P.F.).
Susan P EtheridgeDepartment of Pediatrics, University of Utah, and Primary Children's Hospital, Salt Lake City (S.P.E.).
Lee L EckhardtUniversity of Wisconsin-Madison Inherited Arrhythmia Clinic, Division of Cardiovascular Medicine, Department of Medicine (K.M.O., C.T.J., L.L.E.), University of Wisconsin-Madison.
Robert M HamiltonThe Labatt Family Heart Centre (Department of Pediatrics) and Translational Medicine, The Hospital for Sick Children and the University of Toronto, ON, Canada (R.M.H.).
Michael J AckermanDepartments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN (J.M.B., M.J.A.).
Ferran Rosés I NoguerDepartment of Cardiology, Royal Brompton Hospital, London, United Kingdom (J.T., F.R.I.N.).
Christopher SemsarianAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Australia (J.I., C. Semsarian).
Natalia JuraDepartment of Cellular and Molecular Pharmacology (N.J.), University of California, San Francisco.
Antoine LeenhardtEuropean Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. Maltret, A.L., A.A.M.W., S.G.P.).
Michael H GollobDepartment of Physiology and Department of Medicine, Toronto General Hospital, University of Toronto, ON, Canada (M.H.G.).
Silvia G Priori *European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (K.V.L., A. Mazzanti, I.D., T.R., C.v.d.W., A. Maltret, A.L., A.A.M.W., S.G.P.).
Shubhayan Sanatani *Department of Pediatrics, Children's Heart Centre, BC Children's Hospital (S.S.), University of British Columbia, Vancouver, Canada.
Arthur A M Wilde *Amsterdam University Medical Centre, University of Amsterdam, Heart Centre, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (K.V.L., C.v.d.W., A.A.M.W.).
Rahul C Deo *Cardiovascular Research Institute (E.W.T., F.H.D., N.J.R., R.C.D.), University of California, San Francisco.
Jason D Roberts *Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, Western University, London, ON, Canada (K.N., J.W., A.S.T., A.C.S., J.M., J.D.R.).
ERN GUARD-Heart · NLWestern University · CAHeart Rhythm Society · USUniversity of Wisconsin–Madison · USCentenary Institute · AUChildren's Healthcare of Atlanta · USChildren's Hospital Colorado · USIstituti Clinici Scientifici Maugeri · ITMayo Clinic · USMemorial University of Newfoundland · CARoyal Brompton Hospital · GBTwitter (United States) · USUniversity of California, San Francisco · USBC Children's Hospital · CABoston Children's Hospital · USBrigham and Women's Hospital · USHospital for Sick Children · CALung Institute · USMontreal Heart Institute · CAOregon Health & Science University · US
Funding
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007618 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ANDERSON, MARK S · 1985 to 2020
$29.6MMachine learning for the automated identification and tracking of rare myocardial diseasesR01HL140731 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MACRAE, CALUM A., SHAH, SANJIV J · 2018 to 2021
$2.8MResolving Incomplete Penetrance in the Cardiomyopathies and ChannelopathiesDP2HL123228 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI DEO, RAHUL CHANDRAKANT · 2013 to 2013
$2.4MCardiac Calsequestrin Filament Dynamics in Catecholaminergic Polymorphic Ventricular TachycardiaF30HL137329 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI TITUS, ERRON WILCOX · 2017 to 2020
$112kCIHR RN380020-406814NHLBI NIH HHS DP2 HL123228NHLBI NIH HHS F30 HL137329NHLBI NIH HHS R01 HL140731NIGMS NIH HHS T32 GM007618
Abstract
backgroundGenetic variants in calsequestrin-2 (
methodsGenotype-phenotype segregation in
resultsA total of 112 individuals, including 36 CPVT probands (24 homozygotes/compound heterozygotes and 12 heterozygotes) and 76 family members possessing at least 1 presumed pathogenic
conclusionsThis international multicenter study of
Indexed as
HeterozygoteHomozygoteMutation, MissenseCalsequestrinFemaleHumansMalePolymorphic Catecholaminergic Ventricular TachycardiaRisk FactorsTachycardia, VentricularCalsequestrinCASQ2 protein, humanarrhythmias, cardiaccatecholaminergic polymorphic ventricular tachycardiadeath, sudden, cardiacgenetics
Identifiers
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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.