TY - JOUR
T1 - Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy
AU - Roudijk, Robert W.
AU - Verheul, Lisa
AU - Bosman, Laurens P.
AU - Bourfiss, Mimount
AU - Breur, Johannes M.P.J.
AU - Slieker, Martijn G.
AU - Blank, Andreas C.
AU - Dooijes, Dennis
AU - van der Heijden, Jeroen F.
AU - van den Heuvel, Freek
AU - Clur, Sally Ann
AU - Udink ten Cate, Floris E.A.
AU - van den Berg, Maarten P.
AU - Wilde, Arthur A.M.
AU - Asselbergs, Folkert W.
AU - Peter van Tintelen, J.
AU - te Riele, Anneline S.J.M.
N1 - Funding Information:
This work was supported by the Dutch Heart Foundation (grant 2015T058 to Dr te Riele; CVON2015-12 eDETECT; 2012-10 PREDICT1; 2018-30 PREDICT2; CVON PREDICT Young Talent Program to Dr te Riele); and the UMC Utrecht Fellowship Clinical Research Talent to Dr te Riele. Further support to Dr Asselbergs by University College London Hospitals National Institute for Health Research Biomedical Research Centre was appreciated. The authors have reported that they have no relationships relevant to the contents of this paper to disclose.
Publisher Copyright:
© 2022
PY - 2022/3
Y1 - 2022/3
N2 - 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.
AB - 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.
KW - arrhythmogenic right ventricular cardiomyopathy
KW - cascade screening
KW - genetics
KW - heart failure
KW - pediatric-onset
KW - sudden cardiac death
KW - ventricular tachycardia
UR - http://www.scopus.com/inward/record.url?scp=85126111415&partnerID=8YFLogxK
U2 - 10.1016/j.jacep.2021.09.001
DO - 10.1016/j.jacep.2021.09.001
M3 - Article
C2 - 35331425
SN - 2405-500X
VL - 8
SP - 306
EP - 318
JO - JACC: Clinical Electrophysiology
JF - JACC: Clinical Electrophysiology
IS - 3
ER -