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Cardiac Arrest Is One of the Most Dramatic and Devastating Conditions in All of Cardiology

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Cardiac Arrest Is One of the Most Dramatic and Devastating Conditions in All of Cardiology UvA-DARE (Digital Academic Repository) Genetic aspects of cardiac arrythmia syndromes Postma, A.V. Publication date 2003 Document Version Final published version Link to publication Citation for published version (APA): Postma, A. V. (2003). Genetic aspects of cardiac arrythmia syndromes. General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: https://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. UvA-DARE is a service provided by the library of the University of Amsterdam (https://dare.uva.nl) Download date:04 Oct 2021 Genetic Aspects of Cardiac Arrhythmia Syndromes Genetic Aspects of Cardiac Arrhythmia Syndromes Alex V. Postma / University of Amsterdam, 2003 / Thesis Printed by Thela Thesis, Amsterdam ISBN 90-9017091-X Cover design by author © 2003 by Alex V. Postma No part of this thesis may be reproduced, stored in a retrieval system, or transmitted in any form or by any means without permission of the author. Genetic Aspects of Cardiac Arrhythmia Syndromes ACADEMISCH PROEFSCHRIFT ter verkrijging van de graad van doctor aan de Universiteit van Amsterdam op gezag van de Rector Magnificus prof.mr. P.F. van der Heijden ten overstaan van een door het college voor promoties ingestelde commissie, in het openbaar te verdedigen in de Aula der Universiteit op donderdag 23 oktober 2003, te 12.00 uur door Alex Vincent Postma geboren te Amsterdam Promotiecommissie: Promotores: Prof.dr. A.A.M. Wilde Prof.dr. A.F.M. Moorman Co-promotor: Dr. M.M.A.M. Mannens Overige leden: Prof.dr. H.J.G.M. Crijns Prof.dr. M.J. Janse Prof.dr. N. Sreeram Prof.dr. M. de Visser Prof.dr. A. Westerveld Faculteit Geneeskunde The study described in this thesis was carried out at the Experimental and Molecular Cardiology Group and the department of Clinical Genetics of the Academic Medical Center, Amsterdam, The Netherlands. Financial support of the Academic Medical Center, J.E. Jurriaanse Stichting, Jacques H. de Jong Stichting, Medtronic B.V., Sanofi-Synthelabo B.V., Servier Nederland BV, and St Jude Medical Nederland B.V. for the publication of this thesis is gratefully acknowledged. Ithaque Quand tu partiras pour Ithaque, souhaite que le chemin soit long, riche en péripéties et en expériences. Ne crains ni les Lestrygons, ni les Cyclopes, ni la colère de Neptune. Tu ne verras rien de pareil sur ta route si tes pensées restent hautes, si ton corps et ton âme ne se laissent effleurer que par des emotions sans bassese. Tu ne recontreras ne les Lestrygons, ni les Cyclopes, ni le farouche Neptune, si tu ne les portes pas en toi-même, si ton coeur ne les dresse pas devant toi. Souhaite que le chemin soit long, que nombreux soient les matins d'été, où (avec quelles déelices!) tu pénétreras dans des ports vus pour la premiere fois. Fais escale à des comptoirs phéniciens, et acquiers de belles marchandises: nacre et corail, ambre et ébène, et mille sortes d'entêtants parfums. Acquiers le plus possible de ces entêtans parfums. Visite de nombreuses cités égyptiennes, et instruits-toi avidement auprès de leurs sages. Garde sans cesse Ithaque présente à ton esprit. Ton but final est d'y parvenir, mais n'écourte pas ton voyage: mieux vaut qu'il dure de longues années et que tu abordes enfin dans to île aux jours de ta vieillesse, riche qu'Ithaque t'enrichisse. Ithaque t'a donné le beau voyage: sans elle, tu ne te serais pas mis en route. Elle n'a plus rien d'autre à te donner. Si tu la trouves pauvre, Ithaque ne t'a pas trompé. Sage comme tu l'es devenue à la suite de tant d'experiences, tu as enfin compris ce que signifient les Ithaques. Constantin Cavafy Voor mijn ouders CONTENTS CHAPTER 1 General Introduction 9 CHAPTER 2 A Single Na+ Channel Mutation Causing Both Long-QT and 49 Brugada Syndromes Circ Res. 1999 Dec 3-17;85(12):1206-13 CHAPTER 3 Genomic Organisation and Chromosomal Localisation of 67 Two Members of the KCND Ion Channel Family, KCND2 and KCND3 Hum Genet. 2000 Jun;106(6):614-19 CHAPTER 4 Catecholaminergic Polymorphic Ventricular Tachycardia: 81 Clinical Data, Therapy and Molecular Biological Backgrounds To be submitted CHAPTER 5 Absence of Calsequestrin 2 Causes Severe Forms of 103 Catecholaminergic Polymorphic Ventricular Tachycardia Circ Res. 2002 Oct 18;91(8):e21-6 CHAPTER 6 Catecholaminergic Polymorphic Ventricular Tachycardia: 117 RYR2 Mutations, Bradycardia, and Follow-up of the Patients Re-submitted to JACC CHAPTER 7 Involvement of the Kir2 Gene Family in Catecholaminergic 133 Polymorphic Ventricular Tachycardia; Analysis for Mutations and Identification of Numerous Pseudogenes Submitted to Human Genetics SUMMARY 147 SAMENVATTING 151 DANKWOORD 155 LIST OF PUBLICATIONS 161 Chapter 11 General Introduction Chapter 1 INTRODUCTION............................................................................................................. 11 THE CARDIAC ACTION POTENTIAL ......................................................................... 11 ION CHANNELS.......................................................................................................................................13 ION CHANNELS AND THE CARDIAC ACTION POTENTIAL..................................................................14 MOLECULAR CHARACTERIZATION OF ION CHANNELS.....................................................................15 Na+ channels.........................................................................................................................................15 Ca2+ channels ........................................................................................................................................15 K+ channels ...........................................................................................................................................17 SUDDEN CARDIAC DEATH .......................................................................................... 18 MECHANISMS OF SUDDEN CARDIAC DEATH.......................................................................................19 COMMON ARRHYTHMIAS............................................................................................20 ARRHYTHMIAS IN CONGESTIVE HEART FAILURE...............................................................................21 ATRIAL FIBRILLATION ...........................................................................................................................21 FAMILIAL ARRHYTHMIAS............................................................................................22 LONG QT SYNDROME...........................................................................................................................22 Introduction ...........................................................................................................................................22 Clinical characteristics ............................................................................................................................23 Treatment..............................................................................................................................................24 Pathophysiological mechanism .................................................................................................................25 Genetic basis..........................................................................................................................................26 Drug-acquired long QT syndrome...........................................................................................................27 BRUGADA SYNDROME ...........................................................................................................................28 Introduction ...........................................................................................................................................28 Clinical characteristics ............................................................................................................................28 Treatment..............................................................................................................................................29 Pathophysiological mechanism .................................................................................................................29 Genetic basis..........................................................................................................................................30 CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA............................................32 Introduction ...........................................................................................................................................32 Clinical characteristics ............................................................................................................................32 Treatment..............................................................................................................................................33
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