University of Groningen Phospholamban p.Arg14del cardiomyopathy te Rijdt, Wouter

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University of Groningen

Phospholamban p.Arg14del cardiomyopathy

te Rijdt, Wouter

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Publication date: 2019

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te Rijdt, W. (2019). Phospholamban p.Arg14del cardiomyopathy: Clinical and morphological aspects supporting the concept of arrhythmogenic cardiomyopathy. Rijksuniversiteit Groningen.

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529310-L-bw-Rijdt 529310-L-bw-Rijdt 529310-L-bw-Rijdt 529310-L-bw-Rijdt Processed on: 1-3-2019 Processed on: 1-3-2019 Processed on: 1-3-2019

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Phospholamban p.Arg14del

cardiomyopathy

Wouter P. te Rijdt

Phospholamban p.Arg14del

cardiomyopathy

Clinical and morphological aspects supporting the

concept of arrhythmogenic cardiomyopathy

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Layout Bianca Pijl, www.pijlldesign.nl Groningen, the Netherlands Cover design Bianca Pijl

Printed by Ipskamp Printing

Enschede, the Netherlands ISBN 978-94-034-1492-8 (print)

978-94-034-1491-1 (digital)

All rights reserved. No part of this thesis may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, without prior written permission of the author, or when appropriate, of the publishers of the publications included in this thesis.

Financial support by the University of Groningen, the Graduate School of Medical Sciences, Stichting PLN, Stichting C & W de Boer and the Dutch Heart Foundation for the publication of this thesis is gratefully acknowledged.

The research described in this thesis was supported by a grant of the Dutch Heart Foundation (DHF CVON2012-10 PREDICT), Fondation Leducq (CurePLaN), Young Talent Program grant (CVON PREDICT; 2017T001), and ZonMW Goed Gebruik Geneesmiddelen grant (836011002).

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Phospholamban p.Arg14del

cardiomyopathy

Clinical and morphological aspects supporting the

concept of arrhythmogenic cardiomyopathy

Proefschrift

ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen

op gezag van de

rector magnificus prof. dr. E. Sterken en volgens besluit van het College voor Promoties

De openbare verdediging zal plaatsvinden op woensdag 27 maart 2019 om 12.45 uur

door

Wouter P. te Rijdt

geboren op 10 september 1985 te Groningen

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Promotores

Prof. dr. M.P. van den Berg Prof. dr. R.A. de Boer Prof. dr. A.J.H. Suurmeijer

Copromotor

Dr. J.P. van Tintelen

Beoordelingscommissie

Prof. dr. V.V.A.M. Knoers Prof. dr. P.G.A. Volders Prof. dr. A.C. van der Wal

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Paranimfen

Thomas Vernooij David Vanneste

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Processed on: 1-3-2019 PDF page: 6PDF page: 6PDF page: 6PDF page: 6 6 Chapter 1 Chapter 2 Chapter 3 Chapter 4 Chapter 5 Chapter 6 Chapter 7 Chapter 8 Table of contents

PART I - GENERAL INTRODUCTION

Introduction and outline of the thesis

Arrhythmogenic cardiomyopathy: pathology, genetics and concepts in pathogenesis

Cardiovascular Research. 2017; 113: 1521-1531.

Clinical utility of genetic testing for arrhythmogenic right ventricular cardiomyopathy

European Journal of Human Genetics. 2014; 22: e1-4.

PART II - MORPHOLOGICAL ASPECTS

Phospholamban p.Arg14del cardiomyopathy is characterized by phospholamban aggregates, aggresomes, and autophagic degradation

Histopathology. 2016; 69: 542-550.

Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy

Cardiovasc Pathol. 2017; 30: 23-26.

High resolution systematic digital histological quantification of cardiac fibrosis and adipose tissue in phospholamban p.Arg14del cardiomyopathy

PLoS One. 2014; 9: e94820.

Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy

Cardiovasc Pathol. 2018; 40: 2-6. [Epub ahead of print]

PART III - PHENOTYPICAL INSIGHTS USING MULTIPLE IMAGING MODALITIES

Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights using cardiovascular magnetic resonance imaging

Eur Heart J Cardiovasc Imaging. 2019; 20: 92-100.

9 23 51 65 81 93 111 127

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Processed on: 1-3-2019 PDF page: 7PDF page: 7PDF page: 7PDF page: 7 7 Chapter 9 Chapter 10 Chapter 11 Chapter 12 Chapter 13

Early biventricular abnormalities in presymptomatic phospholamban p.Arg14del mutation carriers detected by echocardiography.

Manuscript in preparation.

Incremental prognostic value of late gadolinium enhancement in early-stage phospholamban p.Arg14del cardiomyopathy

PART IV - PREVENTIVE TREATMENT

Rationale and design of the intervention in PHOspholamban RElated CArdiomyopathy STudy (i-PHORECAST).

PART V - SUMMARY AND GENERAL DISCUSSION

Summary General discussion PART VI - APPENDIX Nederlandse samenvatting List of abbreviations List of publications About the author Dankwoord 145 159 171 187 193 203 209 215 221 225

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