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

JACC Clin Electrophysiol. 2022 Mar;8(3):306-318. doi: 10.1016/j.jacep.2021.09.001. Epub 2021 Dec 22.


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 V1-V3 (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.

Keywords: arrhythmogenic right ventricular cardiomyopathy; cascade screening; genetics; heart failure; pediatric-onset; sudden cardiac death; ventricular tachycardia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Arrhythmias, Cardiac / complications
  • Arrhythmogenic Right Ventricular Dysplasia* / complications
  • Arrhythmogenic Right Ventricular Dysplasia* / diagnosis
  • Arrhythmogenic Right Ventricular Dysplasia* / epidemiology
  • Child
  • Death, Sudden, Cardiac
  • Electrocardiography
  • Follow-Up Studies
  • Heart Arrest* / complications
  • Heart Failure* / complications
  • Humans
  • Male
  • Tachycardia, Ventricular* / complications
  • Tachycardia, Ventricular* / diagnosis
  • Tachycardia, Ventricular* / epidemiology
  • Young Adult