Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient

• Published in: JACC. Case reports Vol. 2; no. 6; pp. 919 - 924
• Main Authors: Roudijk, Rob W., Evertz, Reinder, Teske, Arco J., Marcelis, Carlo, Bosboom, Dennis, Velthuis, Birgitta K., Udink ten Cate, Floris E.A., te Riele, Anneline S.J.M.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Inc 01.06.2020; Elsevier
• Subjects: arrhythmogenic cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy; deformation imaging; desmosomal mutations; genetic screening; Mini-Focus Issue: Cardiomyopathies; pediatrics; ventricular tachycardia; ARVC; desmosomal mutations; genetic screening; deformation imaging; ventricular tachycardia; arrhythmogenic cardiomyopathy; pediatrics; ECG; arrhythmogenic right ventricular cardiomyopathy; CMR; DCM; ARVC, arrhythmogenic right ventricular cardiomyopathy; DCM, dilated cardiomyopathy; ECG, electrocardiogram; CMR, cardiac magnetic resonance
• ISSN: 2666-0849; 2666-0849
• DOI: 10.1016/j.jaccas.2020.01.006

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.) [Display omitted] Arrhythmogenic right ventricular cardiomyopathy (ARVC) is rarely diagnosed in childhood. We describe the case of a 9-year-old girl with genetically…