Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient

Rob W Roudijk; Reinder Evertz; Arco J Teske; Carlo Marcelis; Dennis Bosboom; Birgitta K Velthuis; Floris E A Udink Ten Cate; Anneline S J M Te Riele

doi:10.1016/j.jaccas.2020.01.006

Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient

JACC Case Rep. 2020 Apr 1;2(6):919-924. doi: 10.1016/j.jaccas.2020.01.006. eCollection 2020 Jun.

Authors

Rob W Roudijk¹, Reinder Evertz², Arco J Teske¹, Carlo Marcelis³, Dennis Bosboom⁴, Birgitta K Velthuis⁵, Floris E A Udink Ten Cate^{6

7}, Anneline S J M Te Riele¹

Affiliations

¹ Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, the Netherlands.
² Department of Cardiology, Radboud University Medical Center, Nijmegen, the Netherlands.
³ Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
⁴ Department of Radiology, Radboud University Medical Center, Nijmegen, the Netherlands.
⁵ Department of Radiology, University Medical Center Utrecht, Utrecht, the Netherlands.
⁶ Department of Pediatric Cardiology, Academic Center for Congenital Heart Disease, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
⁷ Division of Pediatric Cardiology, Department of Pediatrics, Sophia Children's Hospital, Erasmus Medical Center, Rotterdam, the Netherlands.

Abstract

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is rarely diagnosed in childhood. We describe the case of a 9-year-old girl with genetically confirmed ARVC who presented with syncope, ventricular arrhythmia, and biventricular myocardial dysfunction. This case highlights the need for development of pediatric ARVC diagnosis criteria specific for pediatric patients and discusses potential diagnostic improvement using echocardiographic deformation imaging. (Level of Difficulty: Beginner.).

Keywords: ARVC, arrhythmogenic right ventricular cardiomyopathy; CMR, cardiac magnetic resonance; DCM, dilated cardiomyopathy; ECG, electrocardiogram; arrhythmogenic cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy; deformation imaging; desmosomal mutations; genetic screening; pediatrics; ventricular tachycardia.

Publication types

Case Reports