Observational studyEuropean heart journal2023
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
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In one paragraph
Observational study in European heart journal, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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26citing papers in PubMed, 1 pooled it
11.4field-weighted citation impact, top 1% of its field
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 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
- Host Genetic Regulation of NLRP3 Inflammasome Cytokines Reveals Immune and Vascular Pathways in HIV.medRxiv : the preprint server for health sciences · 2026Article
- NMDA Receptor Regulation by Calmodulin and α-Actinin-1.Biomolecules · 2026Review
- Gene Therapy for Cardiovascular and Cerebrovascular Disease: Mechanisms, Translational Barriers, and the Road Ahead.Biomedicines · 2026Review
- Local calcium dynamics and signalling in cardiomyocytes.Nature reviews. Cardiology · 2026Review
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- CALM1, CALM2, and CALM3 expression and translation efficiency provide insight into the severity of calmodulinopathy.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 · 2026Article
- Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia.Human molecular genetics · 2026Article
- Case Report: Overlap of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia in two Chinese children withFrontiers in pediatrics · 2026Article
- Assessment of paralogue annotation for improving diagnostic accuracy inFrontiers in genetics · 2026Article
- Calcium release deficiency syndrome: an emerging ryanodinopathy.Frontiers in molecular biosciences · 2026Review
- Long-term follow-up of patients with catecholaminergic polymorphic ventricular tachycardia related to a novelJournal of cardiology cases · 2026Article
- Calmodulinopathies: The Need for a Registry.Circulation. Genomic and precision medicine · 2025Review
- Functional consequences of calmodulin variants identified among schizophrenia patients and controls.Translational psychiatry · 2025Article
- Calmodulinopathies: the need for a registry.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 · 2025Review
- Enrichment of mutant calmodulin protein in a murine model of a human calmodulinopathy.JCI insight · 2025Article
- Distinct intracellular spatiotemporal expression of Calmodulin genes underlies functional diversity of Calmodulin-dependent signalling in cardiac myocytes.Cardiovascular research · 2025Article
- Genetics, manifestations, and management of catecholaminergic polymorphic ventricular tachycardia.Current opinion in cardiology · 2025Review
- Beyond the blueprint: decoding calmodulinopathy-a case report showcasing the utility of multifaceted treatments.European heart journal. Case reports · 2025Article
- The mechanism of LQTS related CaM mutation E141G interfering with CaJournal of physiology and biochemistry · 2025Article
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Authors and funding
55 authors at 20 institutions in 16 countries.
Lia CrottiIstituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Via Pier Lombardo 22, 20135 Milan, Italy.ORCID 0000-0001-8739-6527
Carla SpazzoliniIstituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Via Pier Lombardo 22, 20135 Milan, Italy.ORCID 0000-0003-1209-0157
Mette NyegaardDepartment of Health Science and Technology, Aalborg University, Aalborg, Denmark.ORCID 0000-0003-4973-8543
Michael T OvergaardDepartment of Chemistry and Bioscience, Aalborg University, Aalborg, Denmark.ORCID 0000-0002-1423-2481
Maria-Christina KottaIstituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Via Pier Lombardo 22, 20135 Milan, Italy.ORCID 0000-0001-9629-2172
Federica DagradiIstituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Via Pier Lombardo 22, 20135 Milan, Italy.ORCID 0000-0002-1090-3292
Luca SalaIstituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Via Pier Lombardo 22, 20135 Milan, Italy.ORCID 0000-0002-4129-6632
Takeshi AibaDivision of Arrhythmia, National Cerebral and Cardiovascular Center, Suita, Japan.ORCID 0000-0001-5590-7388
Mark D AyersDepartment of Pediatrics, Division of Pediatric Cardiology, Indiana University School of Medicine, Indianapolis, IN, USA.ORCID 0000-0001-8571-2098
Anwar BabanMember of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.ORCID 0000-0002-9428-4934
Julien BarcUniversité de Nantes, CHU Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.ORCID 0000-0003-4106-5946
Cheyenne M BeachPediatric Cardiology, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0001-7121-3001
Elijah R BehrCardiology Section, Institute of Molecular and Clinical Sciences, St George's University of London and Cardiovascular Clinical Academic Group, St George's University Hospitals NHS Foundation Trust, UK.ORCID 0000-0002-8731-2853
J Martijn BosDepartments of Cardiovascular Medicine, Pediatric and Adolescent Medicine, and Molecular Pharmacology & Experimental Therapeutics, Division of Heart Rhythm Services and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.ORCID 0000-0002-3635-2003
Marina CerroneInherited Arrhythmias Clinic, Leon H. Charney Division of Cardiology, NYU Grossmann School of Medicine, New York, NY, USA.ORCID 0000-0002-6122-9939
Peter CoviDepartment of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.
Bettina CuneoDepartment of Pediatrics, Section of Cardiology, University of Denver School of Medicine, Aurora, CO, USA.ORCID 0000-0001-9085-0882
Isabelle DenjoyCentre de Référence Maladies Cardiaques Héréditaires Filière Cardiogen, Département de Rythmologie, Groupe Hospitalier Bichat-Claude Bernard, Paris, France.ORCID 0000-0002-1786-9461
Birgit DonnerKardiologie, Universitäts-Kinderspital beider Basel (UKBB), Basel, Switzerland.ORCID 0000-0001-8780-1975
Adrienne ElbertDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.ORCID 0000-0002-1820-5798
Håkan EliassonDepartment of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-1565-8385
Susan P EtheridgeDepartment of Pediatrics, Division of Pediatric Cardiology, University of Utah and Primary Children's Hospital, Salt Lake City, UT, USA.ORCID 0000-0002-2492-422X
Megumi FukuyamaDepartment of Cardiovascular Medicine, Shiga University of Medical Science, Shiga, Japan.ORCID 0000-0002-3990-4053
Francesca GirolamiCardiology Unit, Meyer Children's Hospital, Florence, Italy.ORCID 0000-0001-9143-3597
Robert HamiltonDivision of Cardiology, The Hospital for Sick Children (SickKids), Toronto, ON, Canada.ORCID 0000-0002-5344-1278
Minoru HorieDepartment of Cardiovascular Medicine, Shiga University of Medical Science, Shiga, Japan.ORCID 0000-0002-9029-2339
Maria IasconeLaboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.ORCID 0000-0002-4707-212X
Juan Jiménez-JaimezHospital Universitario Virgen de las Nieves, Instituto de Investigación Biosanitario IBS Granada, Spain.ORCID 0000-0001-5541-898X
Henrik Kjærulf JensenDepartment of Cardiology, Department of Clinical Medicine, Aarhus University Hospital, Aarhus University, K-8200 Aarhus N, Denmark.ORCID 0000-0003-1802-4302
Prince J KannankerilDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-1529-9872
Juan P KaskiCentre for Paediatric Inherited and Rare Cardiovascular Disease, Institute of Cardiovascular Science, University College London, Zayed Centre for Research into Rare Disease in Childhood, London, UK.ORCID 0000-0002-0014-9927
Naomasa MakitaNational Cerebral and Cardiovascular Center, Suita, Japan.ORCID 0000-0002-1807-672X
Carmen Muñoz-EsparzaMember of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.ORCID 0000-0001-8656-244X
Hans H OdlandDepartment of Cardiology and Pediatric Cardiology, Section for Arrhythmias, Oslo University Hospital, Oslo, Norway.ORCID 0000-0002-0868-4457
Seiko OhnoDepartment of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.ORCID 0000-0003-1209-8896
John PapagiannisPediatric and Adult Congenital Heart Disease, Onassis Cardiac Surgery Center, Athens, Greece.ORCID 0000-0003-4964-2381
Alessandra Pia PorrettaUnité des Troubles du Rythme, Service de Cardiologie, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.ORCID 0000-0001-7950-8090
Christopher PrandstetterMedical Faculty, Johannes Kepler University Linz, Linz, Austria.ORCID 0000-0001-5609-4411
Vincent ProbstService de Cardiologie, L'institut du Thorax, CHU Nantes, Nantes, France.ORCID 0000-0002-5492-8619
Tomas RobynsMember of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.ORCID 0000-0002-8676-4874
Eric RosenthalEvelina London Children's Hospital, St Thomas' Hospital, London, UK.ORCID 0000-0003-3030-9749
Ferran Rosés-NoguerMember of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.ORCID 0000-0002-5955-7490
Nicole SekarskiUnité de Cardiologie Pédiatrique, Département Médico-Chirurgical de Pédiatrie, CHUV | Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.ORCID 0000-0002-3269-249X
Anoop SinghDepartment of Pediatrics, Medical College of Wisconsin, Wauwatosa, WI, USA.ORCID 0000-0003-4415-9884
Georgia SpentzouBristol Royal Hospital for Children, Bristol, UK.ORCID 0000-0003-2733-0889
Fridrike StuteDepartment of Pediatric Cardiology, University Heart & Vascular Center Hamburg, Hamburg, Germany.ORCID 0000-0002-8847-2226
Jacob Tfelt-HansenMember of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.ORCID 0000-0003-3895-9316
Jan TillRoyal Brompton Hospital NHS Guy's and St Thomas Foundation Trust, London, UK.ORCID 0009-0008-3089-016X
Kathryn E TobertDepartments of Cardiovascular Medicine, Pediatric and Adolescent Medicine, and Molecular Pharmacology & Experimental Therapeutics, Division of Heart Rhythm Services and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Jeffrey M VinocurPediatric Cardiology, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0001-9152-0295
Gregory WebsterAnn & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.ORCID 0000-0002-9107-8342
Arthur A M WildeMember of the European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart: ERN GUARD-Heart.ORCID 0000-0002-0528-0852
Cordula M WolfCenter for Rare Congenital Heart Diseases, Department of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich, Technical University Munich, School of Medicine & Health, Munich, Germany.ORCID 0000-0003-4701-5843
Michael J AckermanDepartments of Cardiovascular Medicine, Pediatric and Adolescent Medicine, and Molecular Pharmacology & Experimental Therapeutics, Division of Heart Rhythm Services and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.ORCID 0000-0002-8011-3333
Peter J SchwartzIstituto Auxologico Italiano IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Via Pier Lombardo 22, 20135 Milan, Italy.ORCID 0000-0003-0367-1048
IRCCS Istituto Auxologico Italiano · ITERN GUARD-Heart · NLMayo Clinic · USNational Cerebral and Cardiovascular Center · JPAalborg University · DKGuy's and St Thomas' NHS Foundation Trust · GBShiga University of Medical Science · JPUniversity Hospital of Lausanne · CHYale University · USAarhus University Hospital · DKBambino Gesù Children's Hospital · ITBristol Royal Hospital for Children · GBCentre National de la Recherche Scientifique · FRDeutsches Herzzentrum München · DEGreat Ormond Street Hospital · GBIndiana University School of MedicineInstitut du Thorax · FRInstituto de Investigación Biosanitaria de Granada · ESJohannes Kepler University of Linz · ATKarolinska University Hospital · SE
Funding
Evaluation of First-Degree Relatives after Sudden Unexplained DeathK23HL130554 · NHLBI · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI WEBSTER, ROBERT GREGORY · 2017 to 2021
$947kMedical Research Council MR/T024062/1NHLBI NIH HHS K23 HL130554
Abstract
aimsCalmodulinopathy due to mutations in any of the three CALM genes (CALM1-3) causes life-threatening arrhythmia syndromes, especially in young individuals. The International Calmodulinopathy Registry (ICalmR) aims to define and link the increasing complexity of the clinical presentation to the underlying molecular mechanisms. METHODS AND
resultsThe ICalmR is an international, collaborative, observational study, assembling and analysing clinical and genetic data on CALM-positive patients. The ICalmR has enrolled 140 subjects (median age 10.8 years [interquartile range 5-19]), 97 index cases and 43 family members. CALM-LQTS and CALM-CPVT are the prevalent phenotypes. Primary neurological manifestations, unrelated to post-anoxic sequelae, manifested in 20 patients. Calmodulinopathy remains associated with a high arrhythmic event rate (symptomatic patients, n = 103, 74%). However, compared with the original 2019 cohort, there was a reduced frequency and severity of all cardiac events (61% vs. 85%; P = .001) and sudden death (9% vs. 27%; P = .008). Data on therapy do not allow definitive recommendations. Cardiac structural abnormalities, either cardiomyopathy or congenital heart defects, are present in 30% of patients, mainly CALM-LQTS, and lethal cases of heart failure have occurred. The number of familial cases and of families with strikingly different phenotypes is increasing.
conclusionCalmodulinopathy has pleiotropic presentations, from channelopathy to syndromic forms. Clinical severity ranges from the early onset of life-threatening arrhythmias to the absence of symptoms, and the percentage of milder and familial forms is increasing. There are no hard data to guide therapy, and current management includes pharmacological and surgical antiadrenergic interventions with sodium channel blockers often accompanied by an implantable cardioverter-defibrillator.
Indexed as
CalmodulinLong QT SyndromeTachycardia, VentricularChildDeath, Sudden, CardiacHumansMutationPolymorphic Catecholaminergic Ventricular TachycardiaRegistriesCalmodulinCalmodulinCardiomyopathiesCatecholaminergic polymorphic ventricular tachycardiaIdiopathic ventricular fibrillationLong QT syndromeNeurological disordersSudden death
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