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

doi:10.1016/j.amjcard.2013.06.017

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 journal › Article › Academic › peer-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 language	English
Pages (from-to)	1197-1206
Journal	American Journal of Cardiology
Volume	112
Issue number	8
DOIs	https://doi.org/10.1016/j.amjcard.2013.06.017
Publication status	Published - 15 Oct 2013

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10.1016/j.amjcard.2013.06.017

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Groeneweg, J. A., van der Zwaag, P. A., Nordkamp, L. R. A. O., Bikker, H., Jongbloed, J. D. H., Jongbloed, R., Wiesfeld, A. C. P., Cox, M. G. P. J., van der Heijden, J. F., Atsma, D. E., de Boer, K., Doevendans, P. A., Vink, A., van Veen, T. A. B., Dooijes, D., van den Berg, M. P., Wilde, A. A. M., van Tintelen, J. P., & Hauer, R. N. (2013). Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers. American Journal of Cardiology, 112(8), 1197-1206. https://doi.org/10.1016/j.amjcard.2013.06.017

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

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 ",

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

year = "2013",

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doi = "10.1016/j.amjcard.2013.06.017",

language = "English",

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Groeneweg, JA, van der Zwaag, PA, Nordkamp, LRAO, Bikker, H, Jongbloed, JDH, Jongbloed, R, Wiesfeld, ACP, Cox, MGPJ, van der Heijden, JF, Atsma, DE, de Boer, K, Doevendans, PA, Vink, A, van Veen, TAB, Dooijes, D, van den Berg, MP, Wilde, AAM, van Tintelen, JP & Hauer, RN 2013, 'Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers', American Journal of Cardiology, vol. 112, no. 8, pp. 1197-1206. https://doi.org/10.1016/j.amjcard.2013.06.017

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy According to Revised 2010 Task Force Criteria With Inclusion of Non-Desmosomal Phospholamban Mutation Carriers. / Groeneweg, Judith A.; van der Zwaag, Paul A.; Nordkamp, Louise R. A. Olde et al.

In: American Journal of Cardiology, Vol. 112, No. 8, 15.10.2013, p. 1197-1206.

Research output: Contribution to journal › Article › Academic › peer-review

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AU - Groeneweg, Judith A.

AU - van der Zwaag, Paul A.

AU - Nordkamp, Louise R. A. Olde

AU - Bikker, Hennie

AU - Jongbloed, Jan D. H.

AU - Jongbloed, Roselie

AU - Wiesfeld, Ans C. P.

AU - Cox, Moniek G. P. J.

AU - van der Heijden, Jeroen F.

AU - Atsma, Douwe E.

AU - de Boer, Karin

AU - Doevendans, Pieter A.

AU - Vink, Aryan

AU - van Veen, Toon A. B.

AU - Dooijes, Dennis

AU - van den Berg, Maarten P.

AU - Wilde, Arthur A. M.

AU - van Tintelen, J. Peter

AU - Hauer, Richard N.

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AB - 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

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DO - 10.1016/j.amjcard.2013.06.017

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