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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.

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.

期刊: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working grou 日期: 2026-01-01 PMID: 42669047 DOI: 10.1093/europace/euag184 浏览: 7
作者: Sarquella-Brugada Georgia; Mazzanti Andrea; Baban Anwar; Campuzano Oscar; Conte Giulio; Crotti Lia; Ackerman Michael; Behr Elijah; Blom Nico; Chowdhury Devyani; Costafreda Ester; Gebauer Roman; Hendricks Jeroen; Ingles Jodie; Kaski Juan Pablo; Maltret Alice; Till Jan; Wilde Arthur; Tfelt-Hansen Jacob; Arbelo Elena
Georgia, S.B., Andrea, M., Anwar, B., Oscar, C., Giulio, C., Lia, C., Michael, A., Elijah, B., Nico, B., Devyani, C., Ester, C., Roman, G., Jeroen, H., Jodie, I., Pablo, K.J., Alice, M., Jan, T., Arthur, W., Jacob, T.H., & Elena, A. (2026). 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 grou. https://doi.org/10.1093/europace/euag184
Georgia SB, Andrea M, Anwar B, Oscar C, Giulio C, Lia C, et al. 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 grou. 2026; doi: 10.1093/europace/euag184
Georgia SB, Andrea M, Anwar B, et al. 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.[J]. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working grou. 2026. DOI: 10.1093/europace/euag184.
@article{georgia2026,
  author = {Sarquella-Brugada Georgia and Mazzanti Andrea and Baban Anwar and Campuzano Oscar and Conte Giulio and Crotti Lia and Ackerman Michael and Behr Elijah and Blom Nico and Chowdhury Devyani and Costafreda Ester and Gebauer Roman and Hendricks Jeroen and Ingles Jodie and Kaski Juan Pablo and Maltret Alice and Till Jan and Wilde Arthur and Tfelt-Hansen Jacob and Arbelo Elena},
  title = {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.},
  journal = {Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working grou},
  year = {2026},
  doi = {10.1093/europace/euag184},
  note = {PMID: 42669047},
}
TY  - JOUR
AU  - Sarquella-Brugada Georgia
AU  - Mazzanti Andrea
AU  - Baban Anwar
AU  - Campuzano Oscar
AU  - Conte Giulio
AU  - Crotti Lia
AU  - Ackerman Michael
AU  - Behr Elijah
AU  - Blom Nico
AU  - Chowdhury Devyani
AU  - Costafreda Ester
AU  - Gebauer Roman
AU  - Hendricks Jeroen
AU  - Ingles Jodie
AU  - Kaski Juan Pablo
AU  - Maltret Alice
AU  - Till Jan
AU  - Wilde Arthur
AU  - Tfelt-Hansen Jacob
AU  - Arbelo Elena
TI  - 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.
T2  - Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working grou
PY  - 2026
DO  - 10.1093/europace/euag184
AN  - PMID:42669047
ER  - 

摘要

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.

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