Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy

Robert W. Roudijk, Lisa Verheul, Laurens P. Bosman, Mimount Bourfiss, Johannes M. P. J. Breur, Martijn G. Slieker, Andreas C. Blank, Dennis Dooijes, Jeroen F. van der Heijden, Freek van den Heuvel, Sally-Ann Clur, Floris E. A. Udink ten Cate, Maarten P. van den Berg, Arthur A. M. Wilde, Folkert W. Asselbergs, J. Peter van Tintelen, Anneline S. J. M. te Riele

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12 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)306-318
Number of pages13
JournalJACC: Clinical Electrophysiology
Volume8
Issue number3
DOIs
Publication statusPublished - 1 Mar 2022

Keywords

  • arrhythmogenic right ventricular cardiomyopathy
  • cascade screening
  • genetics
  • heart failure
  • pediatric-onset
  • sudden cardiac death
  • ventricular tachycardia

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