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

doi:10.1016/j.jacep.2021.09.001

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^*

^*Corresponding author voor dit werk

Cardiovasculair Centrum

Onderzoeksoutput › Academic › peer review

12 Citaten (Scopus)

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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.

Originele taal-2	English
Pagina's (van-tot)	306-318
Aantal pagina's	13
Tijdschrift	JACC. Clinical electrophysiology
Volume	8
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.1016/j.jacep.2021.09.001
Status	Published - mrt.-2022

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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., van Tintelen, J. P., & Te Riele, A. S. J. M. (2022). Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy. JACC. Clinical electrophysiology, 8(3), 306-318. https://doi.org/10.1016/j.jacep.2021.09.001

@article{7c41a168e47d4ae1b0c5bc26bb9fa772,

title = "Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy",

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 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, SUDDEN CARDIAC DEATH, TASK-FORCE CRITERIA, CHILDREN, DIAGNOSIS, RISK, ADOLESCENTS, GENETICS, AGE",

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

note = "Copyright {\textcopyright} 2022. Published by Elsevier Inc.",

year = "2022",

month = mar,

doi = "10.1016/j.jacep.2021.09.001",

language = "English",

volume = "8",

pages = "306--318",

journal = "JACC. Clinical electrophysiology",

issn = "2405-500X",

publisher = "Elsevier",

number = "3",

}

Roudijk, RW, Verheul, L, Bosman, LP, Bourfiss, M, Breur, JMPJ, Slieker, MG, Blank, AC, Dooijes, D, van der Heijden, JF, van den Heuvel, F, Clur, S-A, Udink Ten Cate, FEA, van den Berg, MP, Wilde, AAM, Asselbergs, FW, van Tintelen, JP & Te Riele, ASJM 2022, 'Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy', JACC. Clinical electrophysiology, vol. 8, nr. 3, blz. 306-318. https://doi.org/10.1016/j.jacep.2021.09.001

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 - van Tintelen, J Peter

AU - Te Riele, Anneline S J M

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

KW - SUDDEN CARDIAC DEATH

KW - TASK-FORCE CRITERIA

KW - CHILDREN

KW - DIAGNOSIS

KW - RISK

KW - ADOLESCENTS

KW - GENETICS

KW - AGE

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 -

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

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