Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Pediatric Population: Clinical Characterization and Comparison With Adult-Onset Disease

Anneline S J M Te Riele; Cynthia A James; Abhishek C Sawant; Aditya Bhonsale; Judith A Groeneweg; Thomas P Mast; Brittney Murray; Crystal Tichnell; Dennis Dooijes; J Peter van Tintelen; Daniel P Judge; Jeroen F van der Heijden; Jane Crosson; Richard N W Hauer; Hugh Calkins; Harikrishna Tandri

doi:10.1016/j.jacep.2015.08.004

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in the Pediatric Population: Clinical Characterization and Comparison With Adult-Onset Disease

JACC Clin Electrophysiol. 2015 Dec;1(6):551-560. doi: 10.1016/j.jacep.2015.08.004. Epub 2015 Oct 22.

Authors

Anneline S J M Te Riele¹, Cynthia A James², Abhishek C Sawant², Aditya Bhonsale², Judith A Groeneweg³, Thomas P Mast⁴, Brittney Murray², Crystal Tichnell², Dennis Dooijes⁵, J Peter van Tintelen⁶, Daniel P Judge², Jeroen F van der Heijden⁴, Jane Crosson⁷, Richard N W Hauer⁸, Hugh Calkins², Harikrishna Tandri⁹

Affiliations

¹ Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland; Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.
² Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
³ Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; ICIN-Netherlands Heart Institute, Utrecht, the Netherlands.
⁴ Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.
⁵ Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
⁶ ICIN-Netherlands Heart Institute, Utrecht, the Netherlands; Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
⁷ Department of Pediatrics, Division of Pediatric Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
⁸ ICIN-Netherlands Heart Institute, Utrecht, the Netherlands.
⁹ Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: htandri1@jhmi.edu.

PMID: 29759408
DOI: 10.1016/j.jacep.2015.08.004

Abstract

Objectives: The aims of this study were to determine the clinical characteristics and outcomes of pediatric-onset arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and to compare these with those of adult-onset ARVD/C.

Background: Improved early detection and increased awareness of ARVD/C have led to a growing group of pediatric patients seeking management recommendations. Prior studies have mainly included adults with ARVD/C; however, clinical features and outcomes may differ in pediatric subjects.

Methods: Among 502 subjects fulfilling task force criteria for ARVD/C, we identified 75 (15%) with pediatric-onset disease (diagnosis at <18 years of age or probands presenting symptomatically at <18 years of age). Clinical characteristics and outcomes (sustained ventricular tachycardia, cardiac transplantation, and death) were compared between pediatric and adult patients.

Results: Pediatric patients presented at 15.3 ± 2.4 years of age. Most pediatric patients were male (55%) and ARVD/C-associated mutation carriers (80%). One-fourth of pediatric patients presented with sudden cardiac death (15%) or resuscitated sudden cardiac arrest (11%). Compared with adults, pediatric patients were disproportionately mutation carriers (p = 0.002) but not more often male (p = 0.696) or probands (p = 0.371). Pediatric patients were more likely to present with sudden cardiac death (p = 0.003), whereas adults more often presented with sustained ventricular tachycardia (p = 0.017). There were no other phenotypic differences between the groups. During 8.4 ± 7.5 years of follow-up, survival free from sustained ventricular tachycardia (p = 0.359), cardiac transplantation (p = 0.523), and death (p = 0.359) was similar between pediatric and adult patients.

Conclusions: Pediatric patients with ARVD/C are typically male mutation carriers presenting in adolescence. Pediatric patients disproportionately present with sudden cardiac death. However, once diagnosed, clinical characteristics and outcomes are similar between pediatric and adult patients.

Keywords: arrhythmogenic right ventricular dysplasia/cardiomyopathy; children; exercise; outcome; phenotype.