European Journal of Human Genetics - Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC)

full-text ►
European Journal of Human Genetics - Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC)

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 5 June 2013; doi: 10.1038/ejhg.2013.124

Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC)

Wouter P te Rijdt^1,2,3, Jan DH Jongbloed¹, Rudolf A de Boer³, Gaetano Thiene⁴, Cristina Basso⁴, Maarten P van den Berg³ and J Peter van Tintelen¹

1. ¹Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
2. ²The Netherlands Heart Institute, Interuniversity Cardiology Institute of the Netherlands (ICIN), Utrecht, The Netherlands
3. ³Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
4. ⁴Division of Cardiovascular Pathology, Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy

Correspondence: Dr JP van Tintelen, Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands. Tel: +31-(0)50-361-7223; Fax: +31-(0)50-361-7231; E-mail: p.van.tintelen@umcg.nl

Top of page

1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inheritable disease characterized by structural and functional abnormalities of the right ventricle (RV), with or without concomitant left ventricular (LV) disease. The diagnosis ARVC is made when a patient fulfils the recently revised criteria.¹ Criteria encompass global and/or regional dysfunction and structural changes; repolarization abnormalities; depolarization and conduction abnormalities; arrhythmias; family history/the results of genetic testing; and tissue characterization by endomyocardial biopsy (EMB). Either localized or diffuse atrophy, with subsequent replacement by fibrous and fatty tissue mainly of the RV outflow tract, RV inflow tract and RV apex (‘triangle of dysplasia’) represent the histopathological characteristics of ARVC. Synonyms: arrhythmogenic right ventricular dysplasia (ARVD); ARVC/dysplasia (ARVC/D); arrhythmogenic cardiomyopathy (ACM); arrhythmogenic left-dominant cardiomyopathy; and arrhythmogenic LV cardiomyopathy (ALVC).