Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty infiltration of predominantly the right ventricular (RV) myocardium. Affected patients typically present as young adults with hemodynamically stable ventricular tachycardia, although ped...

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Autores principales:	Anneline S. J. M. te Riele, Cynthia A. James, Hugh Calkins, Adalena Tsatsopoulou
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	arrhythmogenic (right ventricular) cardiomyopathy natural history management children adolescent pediatric Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/956b5d1bd676449c922e4153c5c90dad
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spelling	oai:doaj.org-article:956b5d1bd676449c922e4153c5c90dad2021-12-02T11:45:16ZArrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity2296-236010.3389/fped.2021.750916https://doaj.org/article/956b5d1bd676449c922e4153c5c90dad2021-12-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.750916/fullhttps://doaj.org/toc/2296-2360Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty infiltration of predominantly the right ventricular (RV) myocardium. Affected patients typically present as young adults with hemodynamically stable ventricular tachycardia, although pediatric cases are increasingly recognized. These young subjects often have a more severe phenotype with a high risk of sudden cardiac death (SCD) and progression toward heart failure. Diagnosis of ARVC is made by combining multiple sources of information as prescribed by the consensus-based Task Force Criteria. The description of Naxos disease, a fully penetrant autosomal recessive disorder that is associated with ARVC and a cutaneous phenotype of palmoplantar keratoderma and wooly hair facilitated the identification of the genetic cause of ARVC. At present, approximately 60% of patients are found to carry a pathogenic variant in one of five genes associated with the cardiac desmosome. The incomplete penetrance and variable expressivity of these variants however implies an important role for environmental factors, of which participation in endurance exercise is a strong risk factor. Since there currently is no definite cure for ARVC, disease management is directed toward symptom reduction, delay of disease progression, and prevention of SCD. This clinically focused review describes the spectrum of ARVC among children and adolescents, the genetic architecture underlying this disease, the cardio-cutaneous syndromes that led to its identification, and current diagnostic and therapeutic strategies in pediatric ARVC subjects.Anneline S. J. M. te RieleAnneline S. J. M. te RieleCynthia A. JamesHugh CalkinsAdalena TsatsopoulouFrontiers Media S.A.articlearrhythmogenic (right ventricular) cardiomyopathynatural historymanagementchildrenadolescentpediatricPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	arrhythmogenic (right ventricular) cardiomyopathy natural history management children adolescent pediatric Pediatrics RJ1-570
spellingShingle	arrhythmogenic (right ventricular) cardiomyopathy natural history management children adolescent pediatric Pediatrics RJ1-570 Anneline S. J. M. te Riele Anneline S. J. M. te Riele Cynthia A. James Hugh Calkins Adalena Tsatsopoulou Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity
description	Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty infiltration of predominantly the right ventricular (RV) myocardium. Affected patients typically present as young adults with hemodynamically stable ventricular tachycardia, although pediatric cases are increasingly recognized. These young subjects often have a more severe phenotype with a high risk of sudden cardiac death (SCD) and progression toward heart failure. Diagnosis of ARVC is made by combining multiple sources of information as prescribed by the consensus-based Task Force Criteria. The description of Naxos disease, a fully penetrant autosomal recessive disorder that is associated with ARVC and a cutaneous phenotype of palmoplantar keratoderma and wooly hair facilitated the identification of the genetic cause of ARVC. At present, approximately 60% of patients are found to carry a pathogenic variant in one of five genes associated with the cardiac desmosome. The incomplete penetrance and variable expressivity of these variants however implies an important role for environmental factors, of which participation in endurance exercise is a strong risk factor. Since there currently is no definite cure for ARVC, disease management is directed toward symptom reduction, delay of disease progression, and prevention of SCD. This clinically focused review describes the spectrum of ARVC among children and adolescents, the genetic architecture underlying this disease, the cardio-cutaneous syndromes that led to its identification, and current diagnostic and therapeutic strategies in pediatric ARVC subjects.
format	article
author	Anneline S. J. M. te Riele Anneline S. J. M. te Riele Cynthia A. James Hugh Calkins Adalena Tsatsopoulou
author_facet	Anneline S. J. M. te Riele Anneline S. J. M. te Riele Cynthia A. James Hugh Calkins Adalena Tsatsopoulou
author_sort	Anneline S. J. M. te Riele
title	Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity
title_short	Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity
title_full	Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity
title_fullStr	Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity
title_full_unstemmed	Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity
title_sort	arrhythmogenic right ventricular cardiomyopathy in pediatric patients: an important but underrecognized clinical entity
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/956b5d1bd676449c922e4153c5c90dad
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Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity

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