Skip to main content
Top
Published in: Pediatric Cardiology 4/2008

01-07-2008 | Case Report

The Challenge of Diagnosing Arrhythmogenic Right Ventricular Cardiomyopathy in the Young

Authors: Shubhayan Sanatani, Walter Duncan, Suzanne Chan

Published in: Pediatric Cardiology | Issue 4/2008

Login to get access

Abstract

We report two cases of arrhythmogenic right ventricular cardiomyopathy (ARVC) in the pediatric age group. In both cases, the diagnosis was considered and pursued but would not be made utilizing Task Force Criteria. The diagnosis was made based on the morphology of a single beat during exercise testing. We illustrate the difficulty of diagnosing ARVC in the young even with a heightened index of suspicion.
Literature
1.
go back to reference Ainsworth CD, Skanes AC, Klein GJ, Gula LJ, Yee R, Krahn AD (2006) Differentiating arrhythmogenic right ventricular cardiomyopathy from right ventricular outflow tract ventricular tachycardia using multilead QRS duration and axis. Heart Rhythm 3(4):416–423PubMedCrossRef Ainsworth CD, Skanes AC, Klein GJ, Gula LJ, Yee R, Krahn AD (2006) Differentiating arrhythmogenic right ventricular cardiomyopathy from right ventricular outflow tract ventricular tachycardia using multilead QRS duration and axis. Heart Rhythm 3(4):416–423PubMedCrossRef
2.
go back to reference Brignole M, Alboni P, Benditt DG, Bergfeldt L, Blanc JJ, Thomsen PE, Gert van Dijk J, Fitzpatrick A, Hohnloser S, Janousek J, Kapoor W, Kenny RA, Kulakowski P, Masotti G, Moya A, Raviele A, Sutton R, Theodorakis G, Ungar A, Wieling W, Priori SG, Garcia MA, Budaj A, Cowie M, Deckers J, Burgos EF, Lekakis J, Lindhal B, Mazzotta G, Morais J, Oto A, Smiseth O, Menozzi C, Ector H, Vardas P (2004) Guidelines on management (diagnosis and treatment) of syncope-update 2004. Executive Summary. Eur Heart J 25(22):2054–2072PubMedCrossRef Brignole M, Alboni P, Benditt DG, Bergfeldt L, Blanc JJ, Thomsen PE, Gert van Dijk J, Fitzpatrick A, Hohnloser S, Janousek J, Kapoor W, Kenny RA, Kulakowski P, Masotti G, Moya A, Raviele A, Sutton R, Theodorakis G, Ungar A, Wieling W, Priori SG, Garcia MA, Budaj A, Cowie M, Deckers J, Burgos EF, Lekakis J, Lindhal B, Mazzotta G, Morais J, Oto A, Smiseth O, Menozzi C, Ector H, Vardas P (2004) Guidelines on management (diagnosis and treatment) of syncope-update 2004. Executive Summary. Eur Heart J 25(22):2054–2072PubMedCrossRef
3.
go back to reference Calkins H (2006) Arrhythmogenic right-ventricular dysplasia/cardiomyopathy. Curr Opin Cardiol 21(1):55–63PubMedCrossRef Calkins H (2006) Arrhythmogenic right-ventricular dysplasia/cardiomyopathy. Curr Opin Cardiol 21(1):55–63PubMedCrossRef
4.
go back to reference Corrado D, Thiene G (2006) Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation 113(13):1634–1637PubMedCrossRef Corrado D, Thiene G (2006) Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical impact of molecular genetic studies. Circulation 113(13):1634–1637PubMedCrossRef
5.
go back to reference Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP (2006) Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 48(7):1416–1424PubMedCrossRef Dalal D, James C, Devanagondi R, Tichnell C, Tucker A, Prakasa K, Spevak PJ, Bluemke DA, Abraham T, Russell SD, Calkins H, Judge DP (2006) Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. J Am Coll Cardiol 48(7):1416–1424PubMedCrossRef
6.
go back to reference Fletcher A, Ho SY, McCarthy KP, Sheppard MN (2006) Spectrum of pathological changes in both ventricles of patients dying suddenly with arrhythmogenic right ventricular dysplasia. Relation of changes to age. Histopathology 48(4):445–452PubMedCrossRef Fletcher A, Ho SY, McCarthy KP, Sheppard MN (2006) Spectrum of pathological changes in both ventricles of patients dying suddenly with arrhythmogenic right ventricular dysplasia. Relation of changes to age. Histopathology 48(4):445–452PubMedCrossRef
7.
go back to reference Frias PA (2005) Hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia in young patients. Semin Pediatr Neurol 12(1):25–31PubMedCrossRef Frias PA (2005) Hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia in young patients. Semin Pediatr Neurol 12(1):25–31PubMedCrossRef
8.
go back to reference Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, Sachdev B, Rowland E, Elliott PM, McKenna WJ (2002) Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 40(8):1445–1450PubMedCrossRef Hamid MS, Norman M, Quraishi A, Firoozi S, Thaman R, Gimeno JR, Sachdev B, Rowland E, Elliott PM, McKenna WJ (2002) Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria. J Am Coll Cardiol 40(8):1445–1450PubMedCrossRef
9.
go back to reference Hamilton R, Kirsh JA, Gross GJ, Basciano A, De Souza L, Stephenson EA (2007) Utility of signal-average electrocardiography in pediatric ARVC. Heart Rhythm 4(5S):S44 Hamilton R, Kirsh JA, Gross GJ, Basciano A, De Souza L, Stephenson EA (2007) Utility of signal-average electrocardiography in pediatric ARVC. Heart Rhythm 4(5S):S44
10.
go back to reference Harris KC, Potts JE, Fournier A, Gross GJ, Kantoch MJ, Cote JM, Sanatani S (2006) Right ventricular outflow tract tachycardia in children. J Pediatr 149(6):822–826PubMedCrossRef Harris KC, Potts JE, Fournier A, Gross GJ, Kantoch MJ, Cote JM, Sanatani S (2006) Right ventricular outflow tract tachycardia in children. J Pediatr 149(6):822–826PubMedCrossRef
11.
go back to reference Kaplan SR, Gard JJ, Protonotarios N, Tsatsopoulou A, Spiliopoulou C, Anastasakis A, Squarcioni CP, McKenna WJ, Thiene G, Basso C, Brousse N, Fontaine G, Saffitz JE (2004) Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 1(1):3–11PubMedCrossRef Kaplan SR, Gard JJ, Protonotarios N, Tsatsopoulou A, Spiliopoulou C, Anastasakis A, Squarcioni CP, McKenna WJ, Thiene G, Basso C, Brousse N, Fontaine G, Saffitz JE (2004) Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 1(1):3–11PubMedCrossRef
12.
go back to reference Kies P, Bootsma M, Bax J, Schalij MJ, van der Wall EE (2006) Arrhythmogenic right ventricular dysplasia/cardiomyopathy: screening, diagnosis, and treatment. Heart Rhythm 3(2):225–234PubMedCrossRef Kies P, Bootsma M, Bax J, Schalij MJ, van der Wall EE (2006) Arrhythmogenic right ventricular dysplasia/cardiomyopathy: screening, diagnosis, and treatment. Heart Rhythm 3(2):225–234PubMedCrossRef
13.
go back to reference Kim RJ, Iwai S, Markowitz SM, Shah BK, Stein KM, Lerman BB (2007) Clinical and electrophysiological spectrum of idiopathic ventricular outflow tract arrhythmias. J Am Coll Cardiol 49(20):2035–2043PubMedCrossRef Kim RJ, Iwai S, Markowitz SM, Shah BK, Stein KM, Lerman BB (2007) Clinical and electrophysiological spectrum of idiopathic ventricular outflow tract arrhythmias. J Am Coll Cardiol 49(20):2035–2043PubMedCrossRef
14.
go back to reference Kosinski D, Grubb BP, Karas BJ, Frederick S (2000) Exercise-induced neurocardiogenic syncope: clinical data, pathophysiological aspects, and potential role of tilt table testing. Europace 2(1):77–82PubMedCrossRef Kosinski D, Grubb BP, Karas BJ, Frederick S (2000) Exercise-induced neurocardiogenic syncope: clinical data, pathophysiological aspects, and potential role of tilt table testing. Europace 2(1):77–82PubMedCrossRef
15.
go back to reference Lerman BB, Stein KM, Markowitz SM, Mittal S, Slotwiner DJ (2000) Ventricular arrhythmias in normal hearts. Cardiol Clin 18(2):265–291, viiPubMedCrossRef Lerman BB, Stein KM, Markowitz SM, Mittal S, Slotwiner DJ (2000) Ventricular arrhythmias in normal hearts. Cardiol Clin 18(2):265–291, viiPubMedCrossRef
16.
go back to reference McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F (1994) Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 71:215–218PubMedCrossRef McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, Camerini F (1994) Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Br Heart J 71:215–218PubMedCrossRef
17.
go back to reference O’Donnell D, Cox D, Bourke J, Mitchell L, Furniss S (2003) Clinical and electrophysiologic differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia. Eur Heart J 24(9):801–810PubMedCrossRef O’Donnell D, Cox D, Bourke J, Mitchell L, Furniss S (2003) Clinical and electrophysiologic differences between patients with arrhythmogenic right ventricular dysplasia and right ventricular outflow tract tachycardia. Eur Heart J 24(9):801–810PubMedCrossRef
18.
go back to reference Sanatani S, Peirone A, Chiu C, Human DG, Gross GJ, Hamilton RM (2002) Use of an implantable loop recorder in the evaluation of children with congenital heart disease. Am Heart J 143(2):366–372PubMedCrossRef Sanatani S, Peirone A, Chiu C, Human DG, Gross GJ, Hamilton RM (2002) Use of an implantable loop recorder in the evaluation of children with congenital heart disease. Am Heart J 143(2):366–372PubMedCrossRef
19.
go back to reference Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ (2007) Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation 115(13):1710–1720PubMedCrossRef Sen-Chowdhry S, Syrris P, Ward D, Asimaki A, Sevdalis E, McKenna WJ (2007) Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression. Circulation 115(13):1710–1720PubMedCrossRef
20.
go back to reference Tabib A, Loire R, Chalabreysse L, Meyronnet D, Miras A, Malicier D, Thivolet F, Chevalier P, Bouvagnet P (2003) Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia. Circulation 108(24):3000–3005PubMedCrossRef Tabib A, Loire R, Chalabreysse L, Meyronnet D, Miras A, Malicier D, Thivolet F, Chevalier P, Bouvagnet P (2003) Circumstances of death and gross and microscopic observations in a series of 200 cases of sudden death associated with arrhythmogenic right ventricular cardiomyopathy and/or dysplasia. Circulation 108(24):3000–3005PubMedCrossRef
21.
go back to reference van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN (2006) Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 113(13):1650–1658PubMedCrossRef van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN (2006) Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation 113(13):1650–1658PubMedCrossRef
Metadata
Title
The Challenge of Diagnosing Arrhythmogenic Right Ventricular Cardiomyopathy in the Young
Authors
Shubhayan Sanatani
Walter Duncan
Suzanne Chan
Publication date
01-07-2008
Publisher
Springer-Verlag
Published in
Pediatric Cardiology / Issue 4/2008
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-008-9238-8

Other articles of this Issue 4/2008

Pediatric Cardiology 4/2008 Go to the issue