Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D): Review of 16 Pediatric Cases and a Proposal of Modified Pediatric Criteria

Autor: Shriprasad R. Deshpande, Caitlin A. Cundiff, Julia K. Shinnick, Bahig M. Shehata, Phillip C. Quigley, Shelley A. Caltharp, Haley K. Herman
Rok vydání: 2016
Předmět:
Male
0301 basic medicine
medicine.medical_specialty
Georgia
Adolescent
Biopsy
medicine.medical_treatment
Cardiomyopathy
030204 cardiovascular system & hematology
Ventricular tachycardia
Right ventricular cardiomyopathy
03 medical and health sciences
0302 clinical medicine
Internal medicine
Humans
Medicine
Genetic Testing
Family history
Child
Arrhythmogenic Right Ventricular Dysplasia
Genetic testing
Heart Failure
medicine.diagnostic_test
business.industry
Myocardium
medicine.disease
Implantable cardioverter-defibrillator
Magnetic Resonance Imaging
Heart Arrest
030104 developmental biology
Echocardiography
Dysplasia
Child
Preschool
Heart failure
Pediatrics
Perinatology and Child Health
Tachycardia
Ventricular
Cardiology
Heart Transplantation
Female
Cardiology and Cardiovascular Medicine
business
Zdroj: Pediatric Cardiology. 37:646-655
ISSN: 1432-1971
0172-0643
DOI: 10.1007/s00246-015-1327-x
Popis: 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.
Databáze: OpenAIRE
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