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Heart Development and Disease

Book Series:  A Cold Spring Harbor Perspectives in Biology Collection
Subject Area(s):  Developmental BiologyHuman Biology and Disease

Edited by Benoit G. Bruneau, Gladstone Institute of Cardiovascular Disease, University of California, San Francisco; Paul R. Riley, University of Oxford

Download a Free Excerpt from Heart Development and Disease:

Genetic Basis of Human Congenital Heart Disease

© 2020 • 370 pages, illustrated (78 color and 3 B&W), index
Hardcover •
ISBN  978-1-621823-58-2

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  •     Description    
  •     Contents    


During embryonic development, amorphous cardiac precursor cells are organized into a rhythmically contracting, multi-chambered muscular structure, complete with valves, vessels, and a conduction system. This structure—the heart—is the first organ to form in vertebrate embryos, and all subsequent life processes depend on its proper function. But a range of genetic and environmental factors can disrupt proper heart development and lead to congenital heart disease, the most common birth defect.

Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Biology describes recent progress in our understanding of early heart development and the various cell lineages involved, as well as mechanisms and models of congenital heart disease. The contributors discuss early cardiac morphogenesis and anatomy, the origins of contractile activity, the control of cardiac growth and size, and the signaling pathways and transcription programs that underpin these processes. Specific chapters are devoted to various muscle and non-muscle cell lineages involved in heart development, including those of the neural crest, endo- and epicardium, fibroblasts, coronary vessels, and cardiac conduction and lymphatic systems. Insights from chickens, frogs, and reptiles—model organisms that support research in this area—are also covered.

In addition, the authors examine congenital heart disease, genetic variants and environmental risk factors (e.g., teratogens and nutritional deficiencies) that disrupt normal heart development and cause various malformations, and the use of cell and animal model systems to study disease pathogenesis and test therapeutic interventions. This volume is therefore a valuable reference for all cell and developmental biologists, geneticists, and cardiologists who are interested in the early development and abnormalities of this complex, vital organ.


Cardiopharyngeal Progenitor Specification: Multiple Roads to the Heart and Head Muscles
Benjamin Swedlund and Fabienne Lescroart
Cardiac Morphogenesis: Specification of the Four-Chambered Heart
Vincent Christoffels and Bjarke Jensen
3D Anatomy of the Developing Heart: Understanding Ventricular Septation
Timothy J. Mohun and Robert H. Anderson
Determinants of Cardiac Growth and Size
Todd R. Heallen, Zachary A. Kadow, Jun Wang, and James F. Martin
The First Heartbeat—Origin of Cardiac Contractile Activity
Richard C.V. Tyser and Shankar Srinivas
Genetic and Epigenetic Control of Heart Development
Brynn N. Akerberg and William T. Pu
Long Noncoding RNAs in Cardiac Development
Michael Alexanian and Samir Ounzain
The Formation of Coronary Vessels in Cardiac Development and Disease
Lingjuan He, Kathy O. Lui, and Bin Zhou
Formation and Growth of Cardiac Lymphatics during Embryonic Development, Heart Regeneration, and Disease
Dana Gancz, Gal Perlmoter, and Karina Yaniv
Development of the Cardiac Conduction Syste
Samadrita Bhattacharyya and Nikhil V. Munshi
Developmental Pathways of Cardiac Fibroblasts
Michelle D. Tallquist
Cardiac Neural Crest
Hiroyuki Yamagishi
Epicardium in Heart Development
Yingxi Cao, Sierra Duca, and Jingli Cao
The Endocardium and Heart Valves
Bailey Dye and Joy Lincoln
Xenopus: Experimental Access to Cardiovascular Development, Regeneration Discovery, and Cardiovascular Heart-Defect Modeling
Stefan Hoppler and Frank L. Conlon
The Chicken as a Model Organism to Study Heart Development
Johannes G. Wittig and Andrea Münsterberg
Reptiles as a Model System to Study Heart Development
Bjarke Jensen and Vincent M. Christoffels
Genetic Basis of Human Congenital Heart Disease
Shannon N. Nees and Wendy K. Chung
In Vivo and In Vitro Genetic Models of Congenital Heart Disease
Uddalak Majumdar, Jun Yasuhara, and Vidu Garg
Environmental Risk Factors for Congenital Heart Disease
Jacinta Isabelle Kalisch-Smith, Nikita Ved, and Duncan Burnaby Sparrow