Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy
Open accessAbstract
Objectives The goal of this study was to describe characteristics, cascade screening results, and predictors of adverse outcome in pediatric-onset arrhythmogenic right ventricular cardiomyopathy (ARVC).Background Although ARVC is increasingly recognized in children, pediatric ARVC cohorts remain underrepresented in the literature.Methods This study included 12 probands with pediatric-onset ARVC (aged <18 years at diagnosis) and 68 pediatric relatives (aged <18 years at first evaluation) referred for cascade screening. ARVC diagnosis was based on 2010 Task Force Criteria. Clinical presentation, diagnostic testing, and outcomes (sustained ventricular tachycardia [VT]; heart failure) were ascertained. Predictors of adverse outcome were determined by using univariable logistic regression.Results Pediatric-onset ARVC was diagnosed in 12 probands and 12 (18%) relatives at a median age of 16.6 years (interquartile range: 13.8-17.4 years), whereas 12 (18%) relatives reached ARVC diagnosis as adults (median age, 22.0 years; interquartile range: 20.0-26.7 years). Sudden cardiac death/arrest was the first disease manifestation in 3 (25%) probands and 3 (4%) relatives. In patients without ARVC diagnosis at presentation (n = 61), electrocardiogram and Holter monitoring abnormalities occurred before development of imaging Task Force Criteria (7.3 ± 5.0 years vs 8.4 ± 5.0 years). Clinical course was characterized by sustained VT (91%) and heart failure (36%) in probands, which were rare in relatives (2% and 0%, respectively). Male sex (P < 0.01), T-wave inversion V 1-V 3 (P < 0.01), premature ventricular complexes/runs (P ≤ 0.01), and decrease in biventricular ejection fraction (P ≤ 0.01) were associated with VT occurrence.Conclusions Pediatric ARVC carries high arrhythmic risk, especially in probands. Disease progression is particularly observed on electrocardiogram or Holter monitoring. Arrhythmic events are associated with male sex, T-wave inversions, premature ventricular complexes/runs, and reduced biventricular ejection fraction.
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Arrhythmogenic cardiomyopathy (ACM) is a genetically and phenotypically heterogeneous myocardial disorder characterized by progressive cardiomyocyte loss, immune cell infiltration, and fibro-fatty replacement of the ventricular myocardium.
“Arrhythmogenic cardiomyopathy (ACM) is a genetically and phenotypically heterogeneous myocardial disorder characterized by progressive cardiomyocyte loss, immune cell infiltration, and fibro-fatty replacement of the ventricular myocardium [1,2,3,4,5].”
From A Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease (2026) · cites this paper as [5]
The opening passage (page not provided) describes ARVC as inherited and characterized by fibrofatty replacement predominantly in the right ventricular myocardium. It does not establish the broader description of ACM as genetically and phenotypically heterogeneous, or characterize the disease by progressive cardiomyocyte loss and immune cell infiltration. (LLM, conf=0.86)
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“In this regard, electrical characteristics in terms of ECG, PVC burden, complex PVC and CMR results are of fundamental importance for diagnosis and also for identifying disease progression [41].”
BackgroundA Paradigm Shift: Arrhythmogenic Cardiomyopathy Is an Inflammatory Disease
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- Authors
- Roudijk, R. W., Verheul, L., Bosman, L. P., Bourfiss, M., Breur, J. M. P. J., Slieker, M. G., Blank, A. C., Dooijes, D., van der Heijden, J. F., van den Heuvel, F., Clur, S.-A., Udink ten Cate, F. E. A., van den Berg, M. P., Wilde, A. A. M., Asselbergs, F. W., Peter van Tintelen, J., & te Riele, A. S. J. M.
- Affiliations
- University Medical Center Utrecht (NL)
- Wilhelmina Children's Hospital (NL)
- Utrecht University (NL)
- Emma Kinderziekenhuis (NL)
- Amsterdam University Medical Centers (NL)
- ORCID
- Venue
- JACC: Clinical Electrophysiology
- Publisher
- Elsevier BV
- Published
- 2022-03
- Volume
- 8
- Issue
- 3
- Pages
- 306-318
- ISSN
- 2405-500X (ISSN-L)
- OpenAlex
- W4200070568
- Cited by
- 23
- References
- 38
- Citations by year
- 2026: 6 · 2025: 4 · 2024: 3 · 2023: 5 · 2022: 5
- FWCI
- 2.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- JACC. Clinical electrophysiology (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion, other-oa)
- Pure Amsterdam UMC (acceptedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, other-oa)
- Funders
- NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
- National Institute for Health and Care Research
- University College London
- Universitair Medisch Centrum Utrecht
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- arrhythmogenic right ventricular cardiomyopathy, sustained ventricular tachycardia, sudden cardiac death, heart failure, T-wave inversion, premature ventricular contractions, Task Force Criteria, disease progression, male sex
- MeSH terms
- Adolescent, Adult, Arrhythmias, Cardiac, Child, Electrocardiography, Follow-Up Studies, Heart Arrest, Heart Failure, Humans, Male, Death, Sudden, Cardiac, Tachycardia, Ventricular, Arrhythmogenic Right Ventricular Dysplasia, Young Adult
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