Download Book
Total Page:16
File Type:pdf, Size:1020Kb
Etiology and Morphogenesis of Congenital Heart Disease From Gene Function and Cellular Interaction to Morphology Toshio Nakanishi · Roger R. Markwald H. Scott Baldwin · Bradley B. Keller Deepak Srivastava · Hiroyuki Yamagishi Editors Etiology and Morphogenesis of Congenital Heart Disease Toshio Nakanishi • Roger R. Markwald H. Scott Baldwin • Bradley B. Keller Deepak Srivastava • Hiroyuki Yamagishi Editors Etiology and Morphogenesis of Congenital Heart Disease From Gene Function and Cellular Interaction to Morphology Editors Toshio Nakanishi Roger R. Markwald Department of Pediatric Cardiology Cardiovascular Developmental Biology Tokyo Women’s Medical University Center Tokyo, Japan Medical University of South Carolina Clemson University Charleston, SC, USA H. Scott Baldwin Bradley B. Keller Department of Pediatrics (Cardiology) Pediatrics, Pharmacology and Vanderbilt University Toxicology, and Bioengineering Nashville, TN, USA University of Louisville Louisville, KY, USA Department of Cell and Developmental Biology Vanderbilt University Nashville, TN, USA Deepak Srivastava Hiroyuki Yamagishi Gladstone Institute of Cardiovascular Disease Pediatrics, Division of Pediatric San Francisco, CA, USA Cardiology Keio University School of Medicine Department of Pediatrics and Department of Tokyo, Japan Biochemistry and Biophysics University of California San Francisco, San Francisco, CA, USA ISBN 978-4-431-54627-6 ISBN 978-4-431-54628-3 (eBook) DOI 10.1007/978-4-431-54628-3 Library of Congress Control Number: 2015960929 # The Editor(s) (if applicable) and The Author(s) 2016, corrected publication March 2018. The book is published with open access at SpringerLink.com. Open Access This book is distributed under the terms of the Creative Commons Attribution- Noncommercial 2.5 License (http://creativecommons.org/licenses/by-nc/2.5/) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. The images or other third party material in this book are included in the work’s Creative Commons license, unless indicated otherwise in the credit line; if such material is not included in the work’s Creative Commons license and the respective action is not permitted by statutory regulation, users will need to obtain permission from the license holder to duplicate, adapt or reproduce the material. This work is subject to copyright. All commercial rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper This Springer imprint is published by Springer Nature The registered company is Springer Japan KK Preface This book is based on the 7th Takao International Symposium on the Etiology and Morphogenesis of Congenital Heart Disease held in August 2013 in Tokyo, Japan. The Takao symposium was first held in 1978 by Dr. Atsuyoshi Takao. At that time, Dr. Takao wanted to organize an international conference to stimulate and integrate research on the morphogenesis of the heart because not many conferences were focused on this aspect in those days. Dr. Takao did not want to use his name in the title of the symposium and the conference was simply called “Symposium on the Etiology and Morphogenesis of Congenital Heart Disease.” Since the first sympo- sium, the Takao symposium has been held every 5 years, and proceedings were published after each symposium, in 1980, 1984, 1990, 1995, 2000, and 2005. This book, published in 2016, is the first one to be officially named the “Takao” book. I would like to note that the Takao symposium and its publications have been supported by the Akemi fund from The Sankei Newspaper since its inception. The Akemi fund is based on donations from many persons from all over Japan to save children with congenital heart disease. For those who are not familiar with Dr. Takao, he was a professor and the chief of pediatric cardiology at The Heart Institute of Japan at Tokyo Women’s Medical University from 1972 to 1990. He passed away on August 8, 2006, at the age of 81. Dr. Takao was very interested in the research of cardiac morphogenesis. In the 1970s, research in his laboratory was aimed at inducing heart disease by centrifu- gation, radiation, and various drugs such as retinoic acid. Some of those studies found that maternal administration of retinoic acid caused heterotaxy syndrome and transposition of the great arteries in mice. Thymic abnormalities and interruption of the aortic arch (type B) were also noted. However, Dr. Takao began to see the limitations of the methodologies in experimental teratology in clarifying the mechanisms underlying heart malformation. In 1965, DiGeorge reported on an infant with hypoparathyroidism and recurrent infections along with three necropsy cases with absent thymus and parathyroid glands. From the early 1980s, deletion of chromosome 22q11 was recognized as a cause of DiGeorge syndrome and microdeletion of this region was confirmed in 1991 and 1992. v vi Preface Conotruncal anomaly face syndrome was first reported by Kinouchi and Takao in 1976. In the early 1970s, Dr. Takao began to recognize a characteristic facial appearance with a flat nasal bridge, small mouth, nasal voice, high arched palate, and ear lobe abnormalities, along with mental retardation among patients with conotruncal anomalies, mainly tetralogy of Fallot. He named this combination “conotruncal anomaly face syndrome.” Soon, he recognized the importance of molecular biology in clarifying the etiology and mechanisms of this syndrome. In the early 1980s, the molecular biology laboratory was established in his depart- ment. Microdeletion of chromosome 22q11.2 was confirmed also in conotruncal anomaly face syndrome. Although Dr. Takao realized the importance of molecular biology in the late 1970s, it was not until after he retired in 1990, that he began to study molecular biology techniques. In 1990, he set up the International Molecular Cellular Immu- nological Research Center. He worked as the director of the Institute until 2006. In 2003, investigators of the Institute, including Atsuyoshi Takao and Rumiko Matsuoka, published a paper suggesting that the TBX1 mutation was responsible for conotruncal anomaly face syndrome. It is amazing that so much progress has been accomplished since the first Takao symposium, with path-breaking changes occurring in fields ranging from experi- mental teratology to regenerative medicine. As we understand more about the detailed molecular mechanisms underlying cardiac malformation, we begin to see some hope of manipulating these mechanisms to treat congenital heart disease, as noted by Dr. Markwald in his chapter in this book. Recent progress in cardiac regenerative medicine by using progenitor cells is largely based on the knowledge obtained from research on the etiology and morphogenesis of congenital heart disease. Basic researchers and cardiologists who have been working in this field should be proud that they have contributed so significantly, in the past nearly 40 years, to this valuable progress. I hope this book sheds light on the direction in which we should proceed in the research field in the next 5 years, to ultimately save the lives of those who suffer from congenital and acquired heart diseases. Shinjuku-ku, Tokyo, Japan Toshio Nakanishi Contents Part I From Molecular Mechanism to Intervention for Congenital Heart Diseases, Now and the Future Perspective . 1 Toshio Nakanishi 1 Reprogramming Approaches to Cardiovascular Disease: From Developmental Biology to Regenerative Medicine .............. 3 Deepak Srivastava 2 The Arterial Epicardium: A Developmental Approach to Cardiac Disease and Repair ..................................... 11 Adriana C. Gittenberger-de Groot, E.M. Winter, M.J. Goumans, M.M. Bartelings, and R.E. Poelmann 3 Cell Sheet Tissue Engineering for Heart Failure ............... 19 Hidekazu Sekine, Tatsuya Shimizu, and Teruo Okano 4 Future Treatment of Heart Failure Using Human iPSC-Derived Cardiomyocytes ....................................... 25 Shugo Tohyama and Keiichi Fukuda 5 Congenital Heart Disease: In Search of Remedial Etiologies ..... 33 Roger R. Markwald, Shibnath Ghatak, Suniti Misra, Ricardo A. Moreno-Rodrı´guez, Yukiko Sugi, and Russell A. Norris Part II Left-Right Axis and Heterotaxy Syndrome Perspective ........................................ 47 Bradley B. Keller 6 Left-Right Asymmetry and Human Heterotaxy Syndrome ....... 49 Isao Shiraishi 7 Roles of Motile and Immotile Cilia in Left-Right Symmetry Breaking ............................................. 57 Hiroshi Hamada