Hypertrophic Cardiomyopathy: Pathophysiology, Genetics and ...

[Pages:234]Hypertrophic Cardiomyopathy: Pathophysiology, Genetics and Invasive Treatment

Hypertrofische cardiomyopathy: Pathofysiologie, genetica en invasieve behandeling

Michelle Michels

(?) Copyright 2011 M. Michels All rights reserved. No part of this publication may be reproduced, stored, or transmitted by any form or any means, without written permission of the holder of the copyright. Several chapters of this thesis are base on published papers, which are reproduced with permission of the co-authors and the publishers. Copyright of these papers remains with the publishers.

ISBN: 978-90-8559-269-3

HYPERTROPHIC CARDIOMYOPATHY: PATHOPHYSIOLOGY, GENETICS and INVASIVE TREATMENT

Hypertrofische cardiomyopathy: Pathofysiologie, genetica en invasieve behandeling

Proefschrift ter verkrijging van de graad van doctor aan de

Erasmus Universiteit Rotterdam op gezag van de rector magnificus

Prof.dr. H.G. Schmidt en volgens besluit van het College voor Promoties.

De openbare verdediging zal plaatsvinden op vrijdag 14 januari 2011 om 13.30 uur door Michelle Michels geboren te Amersfoort

Promotiecommissie

Promotoren:

Prof.dr. M.L. Simoons Prof.dr. B.A. Oostra

Overige leden:

Dr. C.R. Bezzina Prof. dr. A.J.J.C. Bogers Prof. dr. A.C. van Rossum Prof. dr. E. Sijbrands Prof. dr. F. Zijlstra

Copromotor: Dr. F.J. ten Cate

Financial support by the Netherlands Heart Foundation for the publication of this thesis is gratefully acknowledged.

Voor Anne, Floris en Puck

Abbreviations

ACTC1 ASA CFR ECG HCM HTX IVS LAD LV LVH LVOT MLE MYBPC3 MYH7 MYL2 MYL3 NYHA PTSMA RF SAM S(C)D TDI TNNI3 TNNT2 TPM1

Cardiac -actin Alcohol septal ablation Coronary flow reserve Electrocardiogram Hypertrophic cardiomyopathy Heart transplant Interventricular septum Left anterior descending coronary artery Left ventricle/ ventricular Left ventricular hypertrophy Left ventricular outflow tract Mitral leaflet extension Cardiac myosin binding protein C Beta-cardiac myosin heavy chain Cardiac-regulatory myosin light chain Cardiac-essential myosin light chain New York Heart Association functional class Percutaneous transluminal septal myocardial ablation Risk factors Systolic anterior movement Sudden (cardiac) death Tissue Doppler imaging Cardiac troponin I Cardiac troponin T -Tropomyosin

Table of contents

Chapter 1 General introduction and outline of the Thesis

9

Part I Pathophysiology of hypertrophic cardiomyopathy

Chapter 2 Coronary flow reserve in hypertrophic cardiomyopathy: relation 15 with microvascular dysfunction and pathophysiological characteristics Neth Heart J 2007;15(6):209-15

Chapter 3 Diastolic abnormalities as the first feature of hypertrophic cardio- 29 myopathy in Dutch myosin-binding protein C founder mutations JACC Cardiovasc Imaging 2009:Jan;2(1):58-64

Chapter 4 Delayed left ventricular untwisting in hypertrophic cardiomyopathy 41 J Am Soc Echocardiogr 2009;22:1320-6

Chapter 5 Cardiac myosin-binding protein C mutations and hypertrophic 57 cardiomyopathy: haploinsufficiency, deranged phoshorylation and cardiomyocyte dysfunction Circulation 2009:Mar 24;119(11):1473-83

Part II Genetics in hypertrophic cardiomyopathy

Chapter 6 Familial screening and genetic counselling in hypertrophic cardio- 79 myopathy: the Rotterdam experience Neth Heart J 2007:May;15(5):184-90

Chapter 7 Disease penetrance and risk stratification for sudden cardiac death 93 in asymptomatic hypertrophic cardiomyopathy mutation carriers Eur Heart J 2009: Nov;30(21):2558-9

Chapter 8

Natural history of three hypertrophic cardiomyopathy founder 107 mutations in Myosin Binding Protein C Submitted

Chapter 9

Renin-angiotensin-aldosterone system polymorphisms do not 125 affect phenotypic expression of hypertrophic cardiomyopathy in a large set of carriers of Dutch functionally-equivalent MYBPC3 founder mutations Submitted

Chapter 10 Complex sarcomeric genetic status is not an important

139

modifier of disease severity in MYBPC3 associated hypertrophic

cardiomyopathy

Submitted

Part III Invasive treatment in hypertrophic cardiomyopathy

Chapter 11 Long-term benefit after myectomy combined with

155

anterior mitral leaflet extension in obstructive hypertrophic cardio-

myopathy

Submitted

Chapter 12 Long-term outcome of alcohol septal ablation in patients with 169 obstructive hypertrophic cardiomyopathy: A word of caution Circ. Heart Failure 2010 May 1;3(3):362-9

Chapter 13 Effects of succesful alcohol septal ablation on microvascular func- 187 tion in patients with obstructive hypertrophic cardiomyopathy Am J Cardiol 2008:May;101(9):1321-7

Part IV Summary and conclusions

Chapter 14 Summary and conclusions

203

Chapter 15 Samenvatting en conclusies

211

Part V Epilogue

List of publications

221

Dankwoord

225

Curriculum Vitae

231

COEUR PhD Portfolio

233

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