title: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D): Review of 16 Pediatric Cases and a Proposal of Modified Pediatric Criteria.
abstract: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heritable cardiomyopathy characterized by fibro-fatty replacement of right ventricular myocardium. Diagnostic criteria, established in 1994 and modified in 2010, are based on predominately adult manifestations of ARVC/D. The goal of this paper is to review a single-center experience with pediatric ARVC/D and propose modifications of current diagnostic criteria to appropriately include pediatric ARVC/D. We identified 16 pediatric cases of ARVC/D from our tertiary care center. Patient demographics, presentation, course, genetic testing, and family history were reviewed. Sixteen patients were diagnosed with ARVC/D through the modified diagnostic criteria, genetic testing, and pathology. Five patients had positive family histories. Five patients presented with cardiac arrest, and six were found to have ventricular tachycardia. Two patients presented with heart failure. Six autopsies, six explanted hearts, and three biopsies found massive fibro-fatty infiltration of the right ventricular wall. Six patients underwent heart transplantation, and two have received automatic implantable cardioverter defibrillator. Two patients had identifiable genetic mutations previously noted in the literature. One patient had a novel mutation of a known ARVC/D gene. Many pediatric patients do not meet the current ARVC/D diagnostic criteria, resulting in delays in diagnosis and treatment. The current criteria need further revision to encompass pediatric manifestations of ARVC/D. In our opinion, pathological and clinical findings alone are sufficient for accurate diagnosis of pediatric ARVC/D. Creating modified pediatric criteria would facilitate prompt diagnosis and management of ARVC/D and facilitate structured research with the goal of improving outcomes.
authors.affiliation: Department of Pediatrics, Division of Pediatric Cardiology, Emory University School of Medicine, Children's Healthcare of Atlanta, 1405 Clifton Road, Atlanta, GA, 30322-1101, USA. deshpandes@kidsheart.com.
authors.forename: Shriprasad R
authors.initials: SR
authors.lastname: Deshpande
authors.affiliation: Department of Pathology, Emory University School of Medicine, Children's Healthcare of Atlanta, 1405 Clifton Road, Atlanta, GA, 30322-1101, USA.
authors.forename: Haley K
authors.initials: HK
authors.lastname: Herman
authors.affiliation: Department of Pathology, Emory University School of Medicine, Children's Healthcare of Atlanta, 1405 Clifton Road, Atlanta, GA, 30322-1101, USA.
authors.forename: Phillip C
authors.initials: PC
authors.lastname: Quigley
authors.affiliation: Department of Pathology, Emory University School of Medicine, Children's Healthcare of Atlanta, 1405 Clifton Road, Atlanta, GA, 30322-1101, USA.
authors.forename: Julia K
authors.initials: JK
authors.lastname: Shinnick
authors.affiliation: Department of Pathology, Emory University School of Medicine, Children's Healthcare of Atlanta, 1405 Clifton Road, Atlanta, GA, 30322-1101, USA.
authors.forename: Caitlin A
authors.initials: CA
authors.lastname: Cundiff
authors.affiliation: Department of Pathology, Emory University School of Medicine, Children's Healthcare of Atlanta, 1405 Clifton Road, Atlanta, GA, 30322-1101, USA.
authors.forename: Shelley
authors.initials: S
authors.lastname: Caltharp
authors.affiliation: Department of Pathology, Emory University School of Medicine, Children's Healthcare of Atlanta, 1405 Clifton Road, Atlanta, GA, 30322-1101, USA.
authors.forename: Bahig M
authors.initials: BM
authors.lastname: Shehata
mesh_terms: D000293:Adolescent; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D005260:Female; D005820:Genetic Testing; D005845:Georgia; D006323:Heart Arrest / Q000150:complications / Q000628:therapy; D006333:Heart Failure / Q000150:complications / Q000601:surgery; D016027:Heart Transplantation; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009206:Myocardium / Q000473:pathology; D017180:Tachycardia, Ventricular / Q000150:complications
keywords: ARVC/D; Desmosome; Diagnostic criteria; Pediatric cardiomyopathy; Pediatric sudden cardiac death