Cardiovascular Development and Congenital Malformations : Molecular and Genetic Mechanisms

by Artman, Michael; Benson, D. Woodrow; Srivastava, Deepak; Nakazawa, Makoto

• ISBN13: 9781405131285
• ISBN10: 1405131284
• Format: Hardcover
• Copyright: 2005-06-24
• Publisher: Wiley-Blackwell

Summary

Congenital cardiovascular malformations are the single most common form of birth defect. Therefore a better understanding of the mechanisms involved in both normal cardiac development and the formation of cardiovascular structural defects is of tremendous importance. This book brings together the leading scientists from around the world who are actively engaged in studies of the etiology, morphogenesis and physiology of congenital cardiovascular diseases. A broad variety of approaches, techniques, experimental models and studies of human genetics combine to make this a truly outstanding and unique treatise on this pressing topic. Cardiovascular Development and Congenital Malformations is divided into distinct categories, each focusing on a particular aspect of cardiovascular development. Sections are accompanied by editorial overviews which integrate new findings and place the information into a broader context.

Author Biography

Michael Artman, MD, is Professor of Pediatrics, Pharmacology and Physiology & Neuroscience, and Director, Pediatric Cardiology at New York University School of Medicine, New York, NY.

Table of Contents

Foreword	xi
Contributors	xiii
Part 1 Establishing left-right patterning and cardiac looping	1	(24)
Editorial perspective	1	(2)
Deepak Srivastava
Microenvironment provides left-right instructions to migrating precardiac mesoderm	3	(3)
H. Joseph Yost
Calmodulin-inv protein interaction and left-right determination	6	(4)
Takahiko Yokoyama
Yukuto Yasuhiko
Misexpression of upstream laterality genes on downstream mechanisms of heart looping: a flectin perspective	10	(4)
Kersti K. Linask
Ming-Da Han
YiPing Chen
Thomas Brand
Philip R. Brauer
Pleiotropic effects of Pitx2 isoform con morphogenesis in the mammalian heart	14	(3)
Nigel A. Brown
Louisa M. Jones
Oliver A. T. Lyons
Chengyu Liu
Wei Liu
Jennifer Palie
Mei Fang Lu
James F. Martin
Signal transduction during cardiac myofibrillogenesis and looping	17	(3)
Isao Shiraishi
Tetsuro Takamatsu
Kenji Hamaoka
Biological role of fibulin-2 in cardiovascular development	20	(5)
Takeshi Tsuda
Mon-Li Chu
Part 2 Mechanisms of cardiogenesis and myocardial development	25	(28)
Editorial perspective	25	(2)
Deepak Srivastava
TBX5 regulates cardiac cell behavior during cardiogenesis	27	(4)
Cathy J. Hatcher
Min-Su Kim
David Pennisi
Yan Song
Nata Diman
Marsha M. Goldstein
Takashi Mikawa
Craig T. Basson
Cardiac homeobox protein Csx/Nkx2.5 and its associated proteins	31	(6)
Hiroshi Akazawa
Issei Komuro
Regulation of myocardium formation after the initial development of the linear heart tube	37	(4)
Maurice J. B. van den Hoff
Boudewijn P. T. Kruithof
Andy Wessels
Roger R. Markwald
Antoon F. M. Moorman
The role of the extracellular matrix (ECM) in cardiac development	41	(3)
Robert L. Price
Thomas K. Borg
James Buggy
Wayne Carver
Teratogenic effects of bis-diamine on the developing myocardium	44	(3)
Nobuhiko Okamoto
Masao Nakagawa
Hidetoshi Fujino
Setsuko Nishijima
Takashi Hanato
Tsutomu Narita
Kyoko Yoshida-Imanaka
Proliferative responses to myocardial remodeling in the developing heart	47	(6)
David Sedmera
Pavel Kucera
Frantisek Kolar
Robert P. Thompson
Part 3 Formation of endocardial cushions and valves	53	(20)
Editorial perspective	53	(2)
D. Woodrow Benson
TGFβ signaling during atrioventricular cushion transformation	55	(4)
Joey V. Barnett
Jay S. Desgrosellier
The endocardium as a unique modulator of in utero cardiovascular form and function	59	(3)
H. Scott Baldwin
Bin Zhou
Valvulogenesis: role of periostin in cushion tissue differentiation	62	(4)
Roger R. Markwald
Edward L. Krug
Stan Hoffman
Ricardo Moreno-Rodriguez
Laura Villavicencio
Corey H. Mjaatvedt
Simon J. Conway
Role of fibroblast growth factors in early valve leaflet formation	66	(3)
Yukiko Sugi
Naoki Ito
Gyorgyi Szebenyi
John F. Fallon
Takashi Mikawa
Roger R. Markwald
Msxl expression during chick heart development: possible role in endothelial-mesenchymal transformation during cushion tissue formation	69	(4)
Toshiyuki Yamagishi
Yuji Nakajima
Katsumi Ando
Hiroaki Nakamura
Part 4 Segment and chamber specification	73	(16)
Editorial perspective	73	(2)
D. Woodrow Benson
Tbx5 specifies the left/right ventricles and ventricular septum position during cardiogenesis	75	(3)
Toshihiko Ogura
Transcriptional regulation of ventricular morphogenesis	78	(3)
Deepak Srivastava
Fgf10 and the embryological origin of outflow tract myocardium	81	(3)
Robert G. Kelly
Stephane Zaffran
Margaret Buckingham
Nigel A. Brown
Evolutionary conservation of atrial natriuretic factor (Anf) expression, cardiac chamber formation, and the heart-forming region	84	(5)
Antoon F.M. Moorman
Piet A.J. De Boer
Eric M. Small
Paul A. Krieg
Vincent M. Christoffels
Part 5 Formation of specialized conduction tissues	89	(18)
Editorial perspective	89	(2)
D. Woodrow Benson
Induction and patterning of the impulse conducting Purkinje fiber network	91	(4)
Takashi Mikawa
Robert G. Gourdie
Clifton P. Poma
Maxim Shulimovich
Christopher Hall
Kenneth W. Hewett
Chip Justus
Maria Reckova
David Sedmera
Kimimasa Tobita
Romulo Hurtado
David J. Pennisi
Nobuyuki Kanzawa
Kimiko Takebayashi-Suzuki
Spatial correlation of conduction tissue in the ventricular trabeculae of the developing zebrafish	95	(3)
Norman Hu
H. Joseph Yost
Lance F. Barker
Edward B. Clark
Development of the cardiac conduction system and contribution of neural crest and epicardially derived cells	98	(3)
Adriana C. Gittenberger-de Groot
Nico A. Blom
Glenn I. Fishman
Robert E. Poelmann
The development of the cardiac conduction system: an old story with a new perspective	101	(4)
Andy Wessels
Amy L. Juraszek
Angela V. Edwards
John B. E. Burch
The role of calreticulin in cardiac development and function	105	(2)
Kimitoshi Nakamura
Fumio Endo
Marek Michalak
Part 6 Coronary artery development	107	(12)
Editorial perspective	107	(2)
Michael Artman
Development of proximal coronary artery in quail embryonic heart	109	(3)
Katsumi Ando
Yuji Nakajima
Toshiyuki Yamagishi
Sadamu Yamamoto
Hiroaki Nakamura
Possible roles of the extracellular matrix in coronary vasculogenesis of mouse	112	(4)
Kyoko Imanaka-Yoshida
Mari Hara
Miyuki Namikata
Keiichi Miyamoto
Takashi Hanato
Noriko Watanabe
Masao Nakagawa
Toshimichi Yoshida
Abnormal coronary development in bisdiamine treated embryo	116	(3)
Takashi Hanato
Masao Nakagawa
Nobuhiko Okamoto
Setsuko Nishijima
Hidetoshi Fujino
Yoshihiro Takeuchi
Part 7 Models of congenital cardiovascular malformations	119	(18)
Editorial perspective	119	(2)
D. Woodrow Benson
Deciphering the basis for congenital heart defects using a mouse model of Holt-Oram syndrome	121	(4)
Benoit G. Bruneau
The role of the transcriptional co-repressor FOG-2 in cardiac development	125	(3)
Eric C. Svensson
Jeannine Wilk
Rodney Dale
Melinda Modrell
Molecular mechanisms regulating tissue-specific expression of Tbx1	128	(4)
Hiroyuki Yamagishi
Deepak Srivastava
Tbx1 and DiGeorge syndrome: a genetic link between cardiovascular and pharyngeal development	132	(3)
Huansheng Xu
Masae Morishima
Antonio Baldini
New insights into the role of Tbx1 in the DiGeorge mouse model	135	(2)
Lazaros Kochilas
Jun Liao
Sandra Merscher-Gomez
Raju Kucherlapati
Bernice Morrow
Jonathan A. Epstein
Part 8 Role of neural crest cells in cardiovascular development	137	(16)
Editorial perspective	137	(4)
Sachiko Miyagawa-Tomita
Makoto Nakazawa
Sdf1/CxcR4 chemotaxisis is disrupted within the splotch mouse mutant cardiovascular system	141	(4)
Manabu Maeda
Jian Wang
Rhonda Rogers
Nurul H. Sarker
Simon J. Conway
Differences in migration and differentiation capacities of early- and late-migrating cardiac neural crest cells	145	(3)
Marit J. Boot
Adriana C. Gittenberger-de Groot
Robert E. Poelmann
TGFβ2 does not affect neural crest cell migration but is a key player in vascular remodeling during embryogenesis	148	(2)
Daniel G. M. Molin
Marco C. DeRuiter
Thomas Doetschman
Henry M. Sucov
Robert E. Poelmann
Adriana C. Gittenberger-de Groot
Neural crest cells contribute to heart formation and cardiomyogenesis in zebrafish	150	(3)
Mariko Sato
H. Joseph Yost
Part 9 Formation of outflow tracts	153	(8)
Editorial perspective	153	(2)
Michael Artman
Outflow tract remodeling -- a role for tissue polarity?	155	(3)
Deborah J. Henderson
Helen M. Phillips
Hdf-affected gene fragment revealed by subtraction study of Hdf (heart defect) mouse	158	(3)
X. Zhang
T. Nakaoka
Corey H. Mjaatvedt
Roger R. Markwald
N. Yamashita
Part 10 Imaging techniques	161	(6)
Editorial perspective	161	(2)
Michael Artman
Imaging of heart development in embryos with magnetic resonance microscopy	163	(4)
Bianca Hogers
Dieter Gross
Volker Lehmann
Huub J. M. de Groot
Kees Erkelens
Adriana C. Gittenberger-de Groot
Robert E. Poelmann
Part 11 Cardiovascular physiology during development	167	(38)
Editorial perspective	167	(2)
Michael Artman
Shear stress in the developing cardiovascular system	169	(5)
Robert E. Poelmann
Adriana C. Gittenberger-de Groot
Bianca C. W. Groenendijk
Beerend P. Hierck
Bianca Hogers
Frans T. M. Nieuwstadt
Mathieu J. B. M. Pourquie
Paul Steendijk
Sandra Stekelenburg-de Vos
Nicolette T.C. Ursem
Jury W. Wladimiroff
Quantitative analysis for stretch-induced cytoskeletal remodeling in endothelial cells	174	(3)
Masaaki Yoshigi
Edward B. Clark
H. Joseph Yost
Differential effects of cyclic stretch on embryonic ventricular cardiomyocyte and non-cardiomyocyte orientation	177	(3)
Kimimasa Tobita
Jason B. Garrison
Bradley B. Keller
Physiology and biomechanics of developing cardiovascular systems: expanding frontiers	180	(6)
Bradley B. Keller
Three-dimensional fiber architecture of the embryonic left ventricle during normal development and reduced mechanical load	186	(4)
Kimimasa Tobita
Jason B. Garrison
Bradley B.Keller
Changes in cardiac excitation-contraction coupling during mammalian development: implications for regulation of contractile function	190	(3)
Salvatore Mancarella
Shekhar Srivastava
Anita Go
Ying-Ying Zhou
William A. Coetzee
Michael Artman
Role of the sodium--calcium exchanger (Ncx-1) within Splotch (Sp2H) myocardial failure	193	(3)
Jian Wang
Andrew Lindsley
Tony Creazzo
Srinagesh V. Koushik
Simon J. Conway
Sarcolipin, a novel regulator of calcium cycling, is preferentially expressed in the murine and human atrium	196	(3)
Susumu Minamisawa
Rumiko Matsuoka
Developmental aspects of cardiac sensitivity to oxygen deprivation: protective mechanisms in the immature heart	199	(6)
Bohuslav Ostadal
Ivana Ostadalova
Libor Skarka
Frantisek Kolar
Jan Kopecky
Part 12 Patent ductus arteriosus	205	(18)
Editorial perspective	205	(2)
Toshio Nakanishi
A comprehensive model for O2 constriction in the human ductus arteriosus	207	(4)
Evangelos D. Michelakis
Bernard Thebaud
Xi-Chen Wu
Kyoko Hashimoto
Rohit Moudgil
Gwyneth Harry
Ivan M. Rebeyka
Stephen L. Archer
Pharmacological manipulation of the fetal ductus arteriosus in the rat	211	(4)
Kazuo Momma
Toshio Nakanishi
Shinichiro Imamura
Katsuaki Toyoshima
Constriction of ductus arteriosus by selective inhibition of cyclooxygenase-1 and - 2	215	(4)
Katsuaki Toyoshima
Atsuhito Takeda
Shinichiro Imamura
Kazuo Momma
Synergistic constriction of ductus arteriosus by indomethacin and dexamethasone in fetal rats	219	(4)
Takeshi Takami
Kazuo Momma
Part 13 Human clinical genetics and epidemiology	223	(64)
Editorial perspective	223	(2)
Deepak Srivastava
Prevalence of congenital heart diseases in the Czech Republic	225	(3)
Milan Samanek
Gene-environment interactions in congenital heart disease: an epidemiological perspective	228	(4)
Christopher A. Loffredo
Familial recurrence risks of congenital heart defects	232	(3)
M.Cristina Digilio
Bruno Marino
Rossella Capolino
Anna Sarkozy
Bruno Dallapiccola
T-box gene family and congenital cardiovascular anomalies	235	(3)
Rumiko Matsuoka
Deciphering the genetic etiology of conotruncal defects	238	(4)
Elizabeth Goldmuntz
Cardiovascular anomalies in patients with deletion 22q11.2: a multi-center study in Korea	242	(2)
In Sook Park
Young Hwue Kim
Jae Kon Ko
Jung Yun Choi
Soo Jin Kim
Hong Ryang Kil
June Huh
Heung Jae Lee
Jae Sook Ma
Sang Bum Lee
Eul Ju Seo
Han Wook Yoo
Atrioventricular canal defect: anatomical and genetic characteristics	244	(4)
Bruno Marino
Maria Cristina Digilio
Federica Mileto
Emanuela Conti
Bruno Dallapiccola
A genetic approach to hypoplastic left heart syndrome	248	(5)
Paul Grossfeld
Char syndrome and TFAP2B mutations	253	(7)
Bruce D. Gelb
The genetic origin of atrioventricular conduction disturbance in humans	260	(3)
D. Woodrow Benson
Noonan syndrome and PTPN11 mutations	263	(10)
Marco Tartaglia
Bruce D. Gelb
Missense mutations in the PTPN11 as a cause of cardiac defects associated with Noonan syndrome	273	(4)
Mitsuhiro Kamisago
Kayoko Hirayama-Yamada
Taichi Kato
Shinichiro Imamura
Kunitaka Joo
Masahiko Ando
Atsuyoshi Takao
Kazuo Momma
Makoto Nakazawa
Rumiko Matsuoka
Novel gene mutations in patients with left ventricular noncompaction and evidence for genetic heterogeneity	277	(2)
Fukiko Ichida
Chen Rui
Tohru Tsuji
Noriyuki Haneda
Karla R. Bowles
Shinichi Tsubata
Keiichiro Uese
Keiichi Hirono
Sayaka Watanabe
Yuji Hamamichi
Ikuo Hashimoto
Toshio Miyawaki
Neil E. Bowles
Jeffrey A. Towbin
Mitochondrial 16189 DNA variant and left ventricular hypertrophy in diabetes mellitus	279	(3)
Yukihiko Momiyama
Michiko Furutani
Yoshihiko Suzuki
Shinichiro Imamura
Kazuhiro Hosokawa
Yoshihito Atsumi
Kempei Matsuoka
Mitsuru Kimura
Hiroshi Kasanuki
Fumitaka Ohsuzu
Rumiko Matsuoka
Mutation analysis of BMPR2 and other genes in Japanese patients with pediatric primary pulmonary hypertension	282	(3)
Maya Fujiwara
Tsutomu Saji
Tomotaka Nakayama
Kaoru Akimoto
Michiko Furutani
Shinichiro Imamura
Atsuyoshi Takao
Makoto Nakazawa
Rumiko Matsuoka
Pathophysiology of Williams syndrome arteriopathy	285	(2)
Damien Bonnet
Index	287