Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers

Judith A. Groeneweg*, Paul A. van der Zwaag, Louise R. A. Olde Nordkamp, Hennie Bikker, Jan D. H. Jongbloed, Roselie Jongbloed, Ans C. P. Wiesfeld, Moniek G. P. J. Cox, Jeroen F. van der Heijden, Douwe E. Atsma, Karin de Boer, Pieter A. Doevendans, Aryan Vink, Toon A. B. van Veen, Dennis Dooijes, Maarten P. van den Berg, Arthur A. M. Wilde, J. Peter van Tintelen, Richard N. Hauer

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

35 Citations (Web of Science)

Abstract

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is frequently associated with desmosomal mutations. However, nondesmosomal mutations may be involved. The aim of this study was to assess the contribution of a phospholamban (PLN) gene mutation to ARVD/C diagnosis according to the revised 2010 task force criteria (TFC). In 142 Dutch patients (106 men, mean. age 51 +/- 13 years) with proven ARVD/C (fulfillment of 2010 TFC for diagnosis), 5 known desmosomal genes (PKP2, DSP, DSC2, DSG2, and JUP) and the nondesmosomal PLN gene were screened. After genetic analysis, phenotypic characteristics of desmosomal versus PLN mutation carriers were compared. In 59 of 142 patients with ARYD/C (42%), no desmosomal mutation was found. In 19 of 142 patients (13%), the PLN founder mutation c.40_42delAGA (p.Arg14del) was identified. PLN mutation carriers more often had low-voltage electrocardiograms (p = 0.004), inverted T waves in leads V-4 to V-6 (p
Original languageEnglish
Pages (from-to)1197-1206
JournalAmerican Journal of Cardiology
Volume112
Issue number8
DOIs
Publication statusPublished - 15 Oct 2013

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