uva-dare (digital academic repository) genetic and ... file259 contributing authors contributing...

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UvA-DARE is a service provided by the library of the University of Amsterdam (http://dare.uva.nl) UvA-DARE (Digital Academic Repository) Genetic and environmental factors in cardiac sodium channel disease Mizusawa, Y. Link to publication Citation for published version (APA): Mizusawa, Y. (2016). Genetic and environmental factors in cardiac sodium channel disease. 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. Download date: 05 Aug 2019

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UvA-DARE is a service provided by the library of the University of Amsterdam (http://dare.uva.nl)

UvA-DARE (Digital Academic Repository)

Genetic and environmental factors in cardiac sodium channel disease

Mizusawa, Y.

Link to publication

Citation for published version (APA):Mizusawa, Y. (2016). Genetic and environmental factors in cardiac sodium channel disease.

General rightsIt 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 regulationsIf you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, statingyour reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Askthe 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.

Download date: 05 Aug 2019

Appendices

PaGe

259 ContRIButInG authoRS

PaGe

273 aBout the authoR, tRaInInG and PuBlICatIonS

PaGe

275 Phd PoRtofolIo

PaGe

277 aCknowledGeMent/dankwooRd

259

Contributing authors

ContRIButInG authoRS

Michael J ackermanDivision of Cardiovascular Diseases, Department of Internal Medicine and Division of Pediatric Cardiology, Department of Pediatrics & Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA

arnon adlerDepartment of Cardiology, Tel-Aviv Sourasky Medical Center and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Michiel e. adriaensHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

takeshi aibaDepartment of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Division of Arrhythmia and Electrophysiology, Suita, Japan

ahmad S. aminHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

Charles antzelevitchLankenau Institute for Medical Research, Wynnewood, Pennsylvania, USA

elena arbeloInstitut Clínic del Tòrax Hospital Clínic Universitari de Barcelona, Barcelona, Spain

takashi ashikagaDepartment of Cardiology, Yokohama Minami Kyosai Hospital, Yokohama, Japan

Beverley BalkauINSERM U1018, Centre de Recherche en Epidémiologie et Santé des Populations (CESP), Villejuif; Université Paris Sud, UMRS 1018, Villejuif, France

Julien Barc Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de

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Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

Susan BartkowiakDepartment of Experimental Cardiology, Masonic Medical Research Laboratory, Utica, New York, USA

Rachel BastiaenenCardiovascular Sciences Research Centre, St George’s University of London, London, UK

Britt M BeckmannDepartment of Medicine I, University Hospital Munich, Campus Grosshadern, Ludwig-Maximilians University, Munich, Germany

leander BeekmanHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

elijah R. BehrCardiovascular Sciences Research Centre, St George’s University of London, London, UK

Maarten P. van den BergDepartment of Cardiology, Thoraxcenter, University Medical Center Groningen, Gronin-gen, the Netherlands

Myriam BerthetInserm, UMR S1166, Faculté de médecine Pierre et Marie Curie, Paris; Sorbonne Univer-sités, UPMC Univ Paris 06, UMR S1166, Paris; Institute of Cardiometabolism & Nutrition, ICAN, Pitié-Salpêtrière Hospital, Paris, France

Stéphane BézieauCHU Nantes, Service de Génétique Médicale, Nantes, France

Connie R. BezzinaviolleauHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

261

Contributing authors

Martin Borggrefe First Department of Medicine (Cardiology), University Medical Center, Medical Faculty Mannheim, Heidelberg University, Mannheim; DZHK (German Centre for Cardiovascular Research), partner site Heidelberg/Mannheim, Mannheim, Germany

Bas J BoukensDepartment of Clinical and Experimental Cardiology and Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, the Netherlands

Ramon BrugadaCardiovascular Genetics Center, IDIBGI, University of Girona, Girona; Department of Medical Science, School of Medicine, University of Girona, Girona; Cardiomyopathy Unit, Hospital Josep Trueta, University of Girona, Girona, Spain

eric CharpentierInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes, France

Stéphanie ChatelInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

Vincent M ChristoffelsDepartment of Anatomy, Embryology and Physiology, Academic Medical Center, Am-sterdam, the Netherlands

Ruben CoronelHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

lia CrottiDepartment of Molecular Medicine, University of Pavia, Pavia, Italy; Center for Cardiac Arrhythmias of Genetic Origin, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Auxologico Italiano, Milan, Italy; Institute of Human Genetics, Helmholtz Center Munich, Neuherberg, Germany

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federica dagradiDepartment of Molecular Medicine, University of Pavia, Pavia, Italy; Center for Cardiac Arrhythmias of Genetic Origin, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Auxologico Italiano, Milan, Italy

dawood darbarDivisions of Cardiovascular Medicine and Clinical Pharmacology, Vanderbilt University, Nashville, TN, USA

aurore despresInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

yanushi dullewe wijeyeratneCardiovascular Sciences Research Centre, St George’s University of London, London, UK

Christian dinaInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

naoto endoDepartment of Regenerative and Transplant Medicine, Division of Orthopaedic Surgery, Niigata University Graduate School of Medicine and Dental Science, Niigata, Japan

Véronique fressartINSERM U956, Faculté de Médecine Pierre et Marie Curie, Site Pitié-Salpêtrière. Paris; Uni-versité Pierre et Marie Curie Université Paris 06, Unité de Mixte Recherche Scientifique (UMRS) 956, Institut Fédératif de Recherche 14, Paris; Assistance Publique–Hôpitaux de Paris (AP-HP), Groupe Hospitalier Pitié-Salpétrière, Service de Biochimie Métabolique, Unité Fonctionnelle Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Paris, France

Philippe froguel CNRS UMR 8199, Lille Pasteur Institute, Lille; Lille Nord de France University, Lille,

263

Contributing authors

France; Department of Genomics of Common Disease, School of Public Health, Imperial College London, Hammersmith Hospital, London, UK

hiroyuki fujiiDepartment of Cardiology, Yokohama Minami Kyosai Hospital, Yokohama, Japan

estelle GandjbakhchUPMC, University Paris 6, INSERM, UMRS956, Institut de Cardiologie(AP-HP), Paris; AP-HP, Hôpital Pitié-Salpêtrière, Paris, France

Manfred GesslerDevelopmental Biochemistry, Theodor-Boveri-Institute, Biocenter, University of Würz-burg, Würzburg, Germany

Carla GiustettoDivision of Cardiology, Department of Medical Sciences, Città della Salute e della Scienza Hospital, University of Turin, Torino, Italy

Jean-Baptiste GourraudInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

françoise GrosInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes, France

Pascale GuicheneyINSERM U956, Faculté de Médecine Pierre et Marie Curie, Site Pitié-Salpêtrière, Paris; Uni-versité Pierre et Marie Curie Université Paris 06, Unité de Mixte Recherche Scientifique (UMRS) 956, Institut Fédératif de Recherche 14, Paris, France

kanae hasegawaDepartment of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan

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ofer havakuk Department of Cardiology, Tel-Aviv Sourasky Medical Center and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Stig haunsoLaboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Copenhagen; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen; Department of Medicine and Surgery, University of Copenha-gen, Copenhagen, Denmark

tatsuya hayashiDepartment of Cardiology, Yokohama Minami Kyosai Hospital, Yokohama, Japan

Masayasu hiraokaTokyo Medical and Dental University, Tokyo, Japan

kui hongDepartment of Cardiology, the Second Affiliated Hospital of Nanchang University, Nan-chang, China

Minoru horieDepartment of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan

anders G holstLaboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of Copenhagen, Copenhagen; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark; Novo Nordisk A/S, Denmark

dan huMasonic Medical Research Laboratory, Utica, New York, USA

Mitsuaki IsobeDepartment of Cardiovascular Medicine, Tokyo Medical and Dental University, Tokyo, Japan

Javad Jabbari Laboratory for Molecular Cardiology, The Heart Centre, Rigshospitalet, University of

265

Contributing authors

Copenhagen, Copenhagen; Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark; LEO Pharma A/S, Denmark

yalda JamshidiCardiovascular Sciences Research Centre, St George’s University of London, London, UK

Stefan kääbDepartment of Medicine I, University Hospital Munich, Campus Grosshadern, Ludwig-Maximilians University, Munich; Deutsches Forschungszentrum für Herz-Kreislaufer-krankungen (DZHK), partner site Munich Heart Alliance, Munich, Germany

Iris C.R.M. kolderHeart Center, Department of Clinical and Experimental Cardiology and Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Centre, Uni-versity of Amsterdam, Amsterdam, the Netherlands

florence kyndtInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes; CHU Nantes, Service de Génétique Médicale, Nantes, France

Pier d. lambiaseInstitute of Cardiovascular Science, University College of London Barts Heart Centre, Barts Health NHS Trust, West Smithfield, London, UK

olivier lantieriInstitut Inter-Régional pour la Santé (IRSA), La Riche, France

najim lahrouchiHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

Simon lecointeInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

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antoine leenhardtService de Cardiologie, Centre de Référence des Maladies Cardiaques Héréditaires, Hôpital Bichat, AP-HP, Paris; INSERM U698, Paris; Université Paris Diderot, Paris, France

Pierre lindenbaumInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

Shingo MaedaDepartment of Cardiology, Yokohama Minami Kyosai Hospital, Yokohama, Japan

naomasa MakitaDepartment of Molecular Physiology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan

hervé le MarecInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

Philippe MauryService de Cardiologie, CHU, Rangueil, Toulouse, France

doris MilosavljevicHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

tohru MinaminoDepartment of Cardiovascular Biology and Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan

hiroshi MoritaDepartment of Cardiovascular Medicine, Okayama University of Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan

267

Contributing authors

eline a. nannenberg Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands

Mitsuhiro nishizakiDepartment of Cardiology, Yokohama Minami Kyosai Hospital, Yokohama, Japan

Saori nikiDepartment of Cardiology, Yokohama Minami Kyosai Hospital, Yokohama, Japan

akihiko nogamiDivision of Heart Rhythm Management, Yokohama Rosai Hospital, Yokohama, Japan

dieter nuyensDepartment of Cardiovascular Diseases, University Hospitals, Leuven; Department of Cardiovascular Sciences, University of Leuven, Belgium

Seiko ohnoDepartment of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Otsu, Japan

Morten S. olesenDanish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Laboratory of Molecular Cardiology, University of Copenhagen, Copenhagen; Department of Cardi-ology, The Heart Centre, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark

evmorfia PetropoulouCardiovascular Sciences Research Centre, St George’s University of London, London, UK

Vincent PorteroInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes, France

Pieter G. PostemaHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

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Bram P PrinsCardiovascular Sciences Research Centre, St George’s University of London, London, UK

Silvia G. PrioriMolecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia; Department of Mo-lecular Medicine, University of Pavia, Pavia, Italy

Vincent ProbstInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

Richard RedonInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

dan M. RodenDepartment of Medicine and Pharmacology, Vanderbilt University School of Medicine, Nashville, TN, USA

Carol a. RemmeHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

frédéric SacherBordeaux University Hospital, IHU Institut de Rythmologie et Modélisation Cardiaque, Inserm U1045, Université de Bordeaux, Bordeaux, France

Johan SaenenLaboratory for Molecular Biophysics, Physiology and Pharmacology, Department of Bio-medical Sciences, University of Antwerp, Antwerp; Cardiology Department, University Hospital of Antwerp, Antwerp, Belgium

harumizu SakuradaDepartment of Cardiology, Tokyo Metropolitan Hiroo Hospital, Tokyo, Japan

269

Contributing authors

Georgia Sarquella-BrugadaHospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain

eleonora Savio-GalimbertiDivisions of Cardiovascular Medicine and Clinical Pharmacology, Vanderbilt University, Nashville, TN, USA

Sanjay SharmaCardiovascular Sciences Research Centre, St George’s University of London, London, United Kingdom

Rainer SchimpfFirst Department of Medicine (Cardiology), University Medical Center, Medical Faculty Mannheim, Heidelberg University, Mannheim; DZHK (German Centre for Cardiovascular Research), partner site Heidelberg/Mannheim, Mannheim, Germany

Jean-Jacques SchottInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

eric Schulze-BahrInstitute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine University Hospital, Münster, Germany

Peter J. SchwartzDepartment of Molecular Medicine, University of Pavia, Pavia, Italy; Center for Cardiac Arrhythmias of Genetic Origin, IRCCS, Istituto Auxologico Italiano, Milan, Italy; Hatter Institute for Cardiovascular Research in Africa, Cape Town, South Africa; Department of Medicine, University of Cape Town, South Africa; Department of Medicine, University of Stellenbosch, South Africa; Chair of Sudden Death, Department of Family and Com-munity Medicine, College of Medicine, King Saud Uiversity, Riyadh, Saudi Arabia

wataru ShimizuDepartment of Cardiovascular Medicine, Nippon Medical School, Tokyo; Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Division of Ar-rhythmia and Electrophysiology, Suita, Japan

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floriane SimonetInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes, France

hanno l. tanHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

Rafik tadrosHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

yoshiaki tanakaDepartment of Cardiology, Yokohama Minami Kyosai Hospital, Yokohama, Japan

Michael w.t. tanckDepartment of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medi-cal Center, Amsterdam, the Netherlands

Jacob tfelt-hansonDanish National Research Foundation Centre for Cardiac Arrhythmia (DARC), Laboratory of Molecular Cardiology, University of Copenhagen, Copenhagen; Department of Cardi-ology, The Heart Centre, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark

J. Peter van tintelenDepartment of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam; Department of Cardiology and Department of Clinical Genetics, University Medical Center Groningen, Groningen, the Netherlands

aurélie tholletINSERM, UMR1087, Institut du thorax, Université de Nantes, Nantes; CNRS, UMR 6291, Institut du thorax, Université de Nantes, Nantes, France

Margherita torchioDepartment of Molecular Medicine, University of Pavia, Pavia; Center for Cardiac Ar-rhythmias of Genetic Origin, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Auxologico Italiano, Milan, Italy

271

Contributing authors

arie o. VerkerkDepartment of Anatomy, Embryology and Physiology, Academic Medical Center, Am-sterdam, the Netherlands

Jade ViolleauInstitut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, L’Institut du Thorax, Nantes; Centre National de la Recherche Scientifique (CNRS) UMR 6291, Nantes; Université de Nantes, Nantes; Centre Hospitalier Universitaire (CHU) Nantes, L’Institut du Thorax, Service de Cardiologie, Nantes, France

Sami ViskinDepartment of Cardiology, Tel-Aviv Sourasky Medical Center and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel

Paul G.a. VoldersDepartment of Cardiology, Cardiovascular Research Institute Maastricht, Maastricht University Medical Centre, Maastricht, the Netherlands

dao w wangDepartment of Medicine, the First Affiliated Hospital, Nanjing Medical University, Nan-jing, China

hiroshi watanabeDepartment of Cardiovascular Biology and Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan

david weberDevelopmental Biochemistry, Theodor-Boveri-Institute, Biocenter, University of Würz-burg, Würzburg, Germany

Peter weekeDepartment of Medicine and Pharmacology, Vanderbilt University School of Medicine, Nashville, TN, USA

Cornelia wieseDevelopmental Biochemistry, Theodor-Boveri-Institute, Biocenter, University of Würz-burg, Würzburg, Germany

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arthur a.M. wilde Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia

Rianne wolswinkelHeart Center, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands

noriyoshi yamawakeDepartment of Cardiology, Yokohama Minami Kyosai Hospital, Yokohama, Japan

tao yangDivisions of Cardiovascular Medicine and Clinical Pharmacology, Vanderbilt University, Nashville, TN, USA

Sven ZumhagenInstitute for Genetics of Heart Diseases (IfGH), Department of Cardiovascular Medicine University Hospital, Münster, Germany

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About the author, training and publications

aBout the authoR, tRaInInG and PuBlICatIonS

Yuka Mizusawa was born in Osaka, Japan, on January 2, 1974 to Jun-ichi and Yumi Mizu-sawa as their first child. She grew up in Tokyo with her two younger brothers Toru and Satoru. She graduated from Futaba high school in Tokyo in 1992. In 1993, she started medical school at the Tokyo Medical and Dental University (TMDU). In 1999, she gradu-ated from medical school and started her residency in the first department of Internal Medicine at the TMDU. In 2002 when she started her cardiology training in the Tokyo Metropolitan Hiroo Hospital in Tokyo, she became interested in clinical electrophysiol-ogy. Under supervision of Dr. Harumizu Sakurada, she became especially interested in Brugada syndrome. From Sep2005 to Mar2007, she was as a fellow clinical electro-physiology at the Academic Hospital Maastricht in Maastricht, the Netherlands. In 2009, she became a cardiologist and electrophysiologist in Japan. In the same year, she was a fellow cellular electrophysiology in Shiga University of Medical Science in Shiga. In order to deepen her insight into Brugada syndrome, in 2010, she started research in the department of clinical and experimental Cardiology at the Academic Medical Center, University of Amsterdam, the Netherlands under supervision of Prof. dr. Arthur A.M. Wilde, prof. dr. Connie R. Bezzina, dr. Hano L Tan and dr. Pieter G Postema, resulting in this thesis. She is married with Davide Radaelli and lives in Vignate, Italy.

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PhD Portofolio

Phd PoRtofolIo

Yuka Mizusawa (period September 2010-September 2016)Supervisor: Prof. A.A.M. Wilde and Prof. C.R. Bezzina

Year ECTS

Courses

Clinical epidemiology 2013 0.5

(Inter)national conferences

Asian Pacific Heart Rhythm Society, Fukuoka, Japan 2011 1.5

NHRA Jaarcongres 2013 0.4

Asian Pacific Heart Rhythm Society, Hong Kong 2013 1.5

Heart Rhythm Society, San Francisco, USA 2014 1.0

Heart Rhythm Society, Boston, USA 2015 1.5

Mentoring

2 medical students for bachelor thesis 2012-2013 4.0

3 medical students for research projects 2011-2014 1.3

Parameters of Esteem

AMC PhD Publication award (AMC graduate school) 2013

277

Acknowledgement/Dankwoord

aCknowledGeMent/dankwooRd

In the last 6 years, I have met and was supported by so many amazing colleagues and friends who made my life in Amsterdam rich and colorful. I would like to thank all of you and I would like to express my sincere gratitude below, specially to those who have been supporting me daily to finish this thesis.

First of all, I would like to report to patients I saw in the Tokyo Metropolitan Hiroo hospital that I have finally finished this thesis. At the same time, I thank all patients who participated in the projects presented in this book. In 2002-2005 when I was in Tokyo, ICD was regularly implanted in asymptomatic patients with Brugada syndrome with the purpose of primary prevention in our hospital. Inappropriate shocks and lead fractures were frequent in inherited arrhythmia syndromes, especially in young patients, and I was upset about these complications because such complications made patients’ qual-ity of life really low. This experience stimulated me to come to Amsterdam and resulted in this thesis. Since 2002, we have acquired much knowledge about inherited arrhythmia syndromes through research, but the mission is not complete. Our research in inherited arrhythmias continues for improved diagnosis and better treatments.

Special thanks to my promoters Prof. Dr. Arthur A.M. Wilde, Prof. Dr. Connie R. Bezzina, co-promoters Dr. Hanno L. Tan and Dr. Pieter G. Postema. Dear Arthur, I saw you for the first time during a congress in Kyoto in 2004. That was the first international congress that I attended and I still remember clearly your sharp eyes and questions to my pre-sentation. Later on in 2009, when you came to Tokyo for a small meeting, Prof. Hiraoka introduced me to you and that encounter eventually brought me to Amsterdam. You gave me an enormous gift. I will value this life changing experience in Amsterdam for life and my gratitude to you is beyond words. Dear Connie, thank you for involving me in these big and extremely interesting projects. I have to say I was really lucky to be here to work with you. I admire your passion in research and hard-work and you stimulated me greatly. I enjoyed your international team and I enjoyed my trip a lot when you sent me out to the Japanese institutions where I collected clinical data for the BrS GWAS project. Dear Hanno, thank you for your support in the last 6 years both in good days and bad days. It was a great experience for me to write together with you the articles that are now included in this thesis. I also enjoyed talking about Japan with you. Your interest in Japanese movies opened my eyes to the Ozu world! Beste Pieter, toen ik je voor de eerste keer ontmoette, was ik erg verbaasd omdat je nog zo jong was. Toen was je al bekend in Japan vanwege je uitstekende artikelen. Je bent ook een aardige man en je heb mij enorm geholpen, ook in mijn privé-leven. Samen met Laura, luisterde je naar mijn langzame en vaak niet duidelijke Nederlands. Het was ook leuk dat we naar

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Fukuoka zijn gegaan voor een congres. Voor alles wat je hebt gedaan voor mij in de afgelopen jaren, ben ik enorm dankbaar.

Dear committe members, Prof. Dr. Marcel M.A.M. Mannens, Prof. Dr. Barbara J.M. Mul-der, Prof. Emeritus. Dr. Masayasu Hiraoka, Prof. Dr. Minoru Horie, Dr. Ruben M. Coronel and Prof. Dr. Paul G.A. Volders, I am grateful for you being my doctorate committee members. Dear Prof. Mannens and Prof. Mulder, thank you for attending my defense as committee members despite your busy schedule! Special thanks to Dr. Hiraoka and Dr. Horie, who were my supervisors in Japan. Dear Dr. Hiraoka, thank you for your long standing support to me since I was a student at the Tokyo Medical and Dental University. You continued giving me chances and supporting me sincerely like a father. Without you, I would have never been able to have numerous precious experiences in research both in Amsterdam and in Japan. Dear Dr. Horie, thank you for having accepted me in your lab to work together in 2009 and for your continuous support since then. I am grateful for you. It was really great that we could collaborate for several projects I was involved in Amsterdam. 平岡先生、堀江先生、先生方のサポートがなければこの日を迎えることはできませんでした。心より感謝申し上げます。Dear Ruben, I was happy to see you when I arrived in Amsterdam because when I was in Tokyo, I enjoyed very much reading your article about the explanted heart of Brugada syndrome. It was nice to know that you are not only passionate about research but also about painting. You are one of the col-leagues who showed me to enjoy life besides work. Dear Paul, I never thought about you being one of my committee members when I was in Maastricht sitting in the same office with you as a fellow. You were very busy with research and the cardiology training at that time. Time flies… !

Dear mijn paranimfen Svitlana and Lucía, I had a great time with you at work and in private life. Both of you supported me emotionally and I am happy that we share a lot of good memories of Amsterdam that we have experienced together. I hope you will visit me often in Milan with Wagner and Peter and one day, I will visit you in Ukraine or Spain.

Dear ‘kamergenoten’ in the experimental Cardiology: Najim, Rafik, Krystien, Doris, Svitlana, Alexa, Esther, Nina, Irina, Sonia, Rob, it was great that we shared the same office. Special thanks to Doris, for working hard with me at the final stage of my PhD course! Without you, I really would not have managed to finish this thesis. Najim and Rafik, thank you very much for good discussions and also for sharing good times outside the office. Both of you helped me enormously. Krystien, I always appreciated your warm words. Dear colleagues in K2, L2 and J1B: Carol Ann, Elisabeth, Gerard (Kon nichiwa/Arigato!), Mischa, Lucía, Annalisa, Christiaan, Isabella, Mathilde, Vincent, Leander, Rianne, Eelco, Roos, Raha, Tamara, Ingrid, Michiel, Iris, Maaike, Fleur, Esther, Bjarke, Nicoline, Inge, Malou, Anke, Nina, Yolan, Ingeborg, A. Amin, Amin D, Marieke B, Marieke V, Shirley, Yigal, Appie, Ralph, big Benoit, Francesco, Maarten, Simona, thank you for sharing nice moments in the department and kindness to me. Dear Michael T, it was great to work

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with you. Thank you for all your support until the last minutes of finishing the thesis. Dear Tobias, my gratitude to you is beyond words. Thank you for supporting me to go through difficulties. I hope we will have many more moments to sing together! Dear Giel Janse, your long-standing friendship with Massy certainly supported me to come here to work. Thank you!

Lieve (oude) kamergenoten en collega’s bij de afdeling klinische cardiologie: Louise, Christian vd W, Peter Damman, Judith, Veronique, Sébastien, Madelon, Suzanne, Paola, Wouter, Jonas, dank jullie wel voor jullie geduld met mijn Nederlands. Dank ook voor de etentjes bij jullie, het boottochtje samen met Rei, een studente uit Japan, enz. Jullie hebben me zo veel goede herinneringen gegeven. In het bijzonder wil ik Peter D, Louise en Christian noemen. Ik ben vooral door jullie gesteund tijdens slechte dagen na de aardbeving in 2011 in Japan, hartelijk dank. Pier, Tim, Ronak, Maik, Soha, Piety, Anita, Margreet, ik ben erg dankbaar voor jullie ondersteuning. Lieve Regina, hartelijke dank voor alles wat je me hebt gegeven. Ik zal je missen.

Collega’s bij de afdeling klinische genetica: bedankt voor jullie ondersteuning. Eline, Nynke, Hannelore en Beatrice, het was erg leuk samen met jullie te kunnen werken, heel erg bedankt!

Dear colleagues in Nantes, it was great to work with you all. Dear Julien and Jean-Baptiste, it has been a pleasure to work with you. Dear Jean-Jacques, you are a great colleague and friend of me and my Japanese colleagues.

Dear colleagues in Japan, thank you for your collaboration and support. 木村先生、中澤先生、大野先生、伊藤秀樹先生、長谷川先生、ひめちゃん、渡辺先生、清水先生、相庭先生、

サポート心より感謝しています。ありがとうございました. Dear Prof. Makita, thank you for your warm welcome at your lab in Nagasaki and continuous support for the last years. My mentor in Tokyo, Dr. Sakurada, 櫻田先生, the period I worked with you made my basis for this journey. Thank you so much.

Students who worked with me in the AMC: Inge Muntje, Marije, 上杉豪君, 谷本貴大君, Rei Nakazato, it was great that I could work with you. Inge, we skyped almost every day when you were in Kagoshima! It is now a good memory for me.

Dear Janet and Parvin, I treasure our friendship. I am extremely happy that I have met you both in the Lucas’ Dutch class in 2010. We have spent much time together since then and now, together with Amelia, Gerard, Liana, Hadi and Nynke, you are part of my family. I hope we continue our jogging club in Amsterdam, in Canada, in Iran and in Italy. When are we going to run again a half-marathon?? Nynke, special thanks for hosting me so warmly.

Dear Anne vD, Eiko, Helga, Wieteke, Gerard, Casper, Aliki, Jane, Jacqueline, Bas, Anne A, Thomas, Maria-Elena, Maurizio, Anna, Flip, Esther, thank you for sharing time with me at the aikido dojo in Amsterdam. Anne vD, we had nice dinner so many times together. These are all good memories of Amsterdam for me. Helga and Wieteke, thank you sisters

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for your emotional support. Will you come often to visit me in Milan? I will miss you. Dear Mizue-san, I am very happy to have met you in Amsterdam. Thank you for all Yoga lessons and beautiful weekends in Laren (Gelderland). Dear Madeleine and Paul (de Leeuw!), de Shinto meester in Amsterdam, thank you for the beautiful ceremonies, and all your love and support. Paul, let’s visit the ‘tree’ together in the Netherlands in the near future! Laura, hartelijke dank voor jouw vriendschap. Je bent me echt dierbaar. Ik mis je. Lucas, de beste Nederlandse leraar ooit !, heel erg bedankt voor jouw Nederlandse les en ondersteuning de afgelopen jaren. Ik ben trots op je en ik zal voorgoed onze vriendschap waarderen.

Shuangjie, thank you for your warm welcome at your home and friendship. Keep in touch! Lilian, Dirk, we are connected through Japan and you have been really precious in my life in Amsterdam. ありがとう。Peter B, thank you for your friendship and support. You helped me out to solve many problems! Emmy, thank you for supporting me since my stay in Maastricht. I have had much less contact with you recently, despite that, I know we share wonderful memories and they are very special in my life.

Aki, my best friend since 12 years old! It is really funny that we are somehow destined to live closeby in every corner of the world. Thank you for being my best friend for so long and for the endless chatting whenever we meet.

Cari Marco e Antonietta, grazie per il vostro caloroso sostegno a Milano. E per avermi ispirato molto. Spero di continuare la nostra preziosa amicizia.

Dear friends of my family since you were in Japan: Marianne, Xavier, Thomas Colson, j’étais chanceuse d’avoir une place à visiter lors de moments de solitude; Anne, Anne-Julie, Pieter-Jan, Luc van Laere, ik heb er ieder keer erg genoten van jullie te bezoeken in Leuven! Anne, dank voor jouw mailtjes; Margaret, Jessica, Colin and the rest of the Warrens’, you always welcome me like a part of your family. I am very grateful for that (; I almost cry when I look back to our shared memories and photos) and I am looking forward to seeing you again in Chevy Chase.

Dear Mama, Papa, thank you for your support and love. Thanks to the circumstances you gave me in my childhood, I have learned foreign languages with great interest and that eventually led to this tough but exciting journey. I’ll continue to explore the world following my heart. 透ファミリー、さっちゃん、ありがとう。Toru and Satoru, I am happy that you are my brothers. I am proud of you. Dear grandma 美子, I always think of you. Dear aunt Takako, thank you for your long-lasting support. You are my second mother! Dear Tomoko and family Minoda, uncle Ikuo, thank you for your warm welcome when-ever I come back to Japan. Thank you to all, family Morita in Osaka.

Caro Davide, grazie per il tuo sostegno e amore. Mi fai ridere tutti i giorni, davvero grande.