Evidence map›Paper›PMID 42669047›Full record

GuidelineEuropace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology2026

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.

Georgia Sarquella-Brugada, Andrea Mazzanti, Anwar Baban, Oscar Campuzano, Giulio Conte, Lia Crotti, Michael Ackerman, Elijah Behr, Nico Blom, Devyani Chowdhury and 10 more

Abstract readConsensus StatementPractice Guideline
In one paragraph

Guideline in 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, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Review
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

20 authors.

Georgia Sarquella-BrugadaPediatric Arrhythmias, Genetic Cardiology and Sudden Death, Institut de Recerca Sant Joan de Déu (IRSJD), Santa Rosa 39-57, Esplugues de Llobregat, Barcelona 08950, Spain.ORCID 0000-0002-6857-8904
Andrea MazzantiEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0000-0002-0208-2172
Anwar BabanEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0000-0002-9428-4934
Oscar CampuzanoMedical Sciences Department, School of Medicine, University of Girona, Girona, Spain.ORCID 0000-0001-5298-5276
Giulio ConteCardiocentro Ticino Institute, Ente Ospedaliero Cantonale, Lugano, Switzerland.ORCID 0000-0003-2248-3456
Lia CrottiDepartment of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.ORCID 0000-0001-8739-6527
Michael AckermanDepartments of Cardiovascular Medicine and Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-8011-3333
Elijah BehrCity St George's, University of London, Cranmer Terrace, London, UK.ORCID 0000-0002-8731-2853
Nico BlomEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0000-0002-4823-6974
Devyani ChowdhuryCardiology Care for Children, Lancaster, PA, USA.ORCID 0000-0003-3380-3929
Ester CostafredaEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0009-0000-2498-4372
Roman GebauerEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0009-0000-9803-5532
Jeroen HendricksDepartment of Nursing, Maastricht University Medical Centre, Maastricht, The Netherlands.ORCID 0000-0003-4326-9256
Jodie InglesGenomics and Inherited Disease Program, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.ORCID 0000-0002-4846-7676
Juan Pablo KaskiCentre for Paediatric Inherited and Rare Cardiovascular Disease, University College London, London, UK.ORCID 0000-0002-0014-9927
Alice MaltretEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0000-0001-9934-6746
Jan TillDepartment of Cardiology, Royal Brompton Hospital, London, UK.ORCID 0009-0008-3089-016X
Arthur WildeEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0000-0002-0528-0852
Jacob Tfelt-HansenEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0000-0003-3895-9316
Elena ArbeloEuropean Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart.ORCID 0000-0003-0424-6393

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Very rare and ultra-rare primary inherited arrhythmia syndromes (IAS) represent a heterogeneous group of disorders associated with a significant risk of sudden cardiac death, often manifesting from foetal life to early adulthood. Current guidelines primarily address more common IAS and provide limited, non-specific recommendations for these rare entities, particularly in paediatric populations. This European Heart Rhythm Association Clinical Consensus Statement, developed in collaboration with the Association of Cardiovascular Nursing and Allied Professions and endorsed by the Association for European Paediatric and Congenital Cardiology, integrates available evidence with expert opinion. Recommendations were formulated through structured discussion and voting, following ESC consensus methodology, with a focus on clinically actionable gene-disease associations. The document provides a comprehensive framework for the diagnosis and management of very rare IAS, including calmodulinopathies, Andersen-Tawil syndrome, Timothy syndrome, TRDN-related disease, calcium release deficiency syndrome, and other atypical channelopathies. It highlights age-specific clinical presentations, the importance of genetic testing, and tailored therapeutic strategies, including pharmacological treatments, left cardiac sympathetic denervation, and selective use of implantable cardioverter-defibrillators. Special attention is given to paediatric considerations, foetal diagnosis, and the role of multidisciplinary care. The document also addresses arrhythmic risk in metabolic and cardiomyopathic conditions, as well as the importance of molecular autopsy and family screening in sudden unexplained death. This consensus document fills a critical gap by providing expert-driven, pragmatic guidance for the management of very rare IAS across the lifespan. It underscores the need for specialized care, international collaboration, and prospective registries to improve evidence generation, risk stratification, and patient outcomes in this vulnerable population.

Indexed as

Arrhythmias, CardiacCardiologyDeath, Sudden, CardiacAdultAnti-Arrhythmia AgentsChildConsensusEuropeGenetic Predisposition to DiseaseGenetic TestingHumansPredictive Value of TestsRare DiseasesRisk FactorsAnti-Arrhythmia AgentsConsensus documentPaediatricRare inhertied cardiac diseasesSudden deathUltra-rare

Identifiers

PMID42669047
PMCPMC13522997

What Socratic holds

Textmetadata
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 Socratic graph.