One of the most rapidly growing fields of research in cardiology is that of developmental and molecular cardiology. Even in the presence of numerous advances in modern technology, we are just beginning to appreciate all the intricate pathways and interactions that are involved in cardiogenesis. Etiology and Morphogenesis of Congenital Heart Disease provides a synopsis of recent developments and techniques in genetics and developmental biology. Strengthened by extensive references, this textbook is a good overview of the rapidly changing field of molecular biology.
The book touches on a wide variety of congenital heart diseases and on the processes that may explain their development. There are 7 sections, each with an initial overview followed by several smaller chapters that delineate specific aspects of the concept under discussion. These sections cover axes, situs, and the vertebrate body plan; the molecular genetics of congenital heart disease; formation of the primary heart tube; the extracellular matrix; morphogenesis of the outflow tracts, aortic arch, and conduction system; the function, biomechanics, and control of developing cardiovascular systems; and syndromes, developmental fields, and human congenital cardiovascular malformations.
These sections discuss past and present research on how specific genetic sequences and regions influence various aspects of cardiac development and on how specific mutations cause congenital heart defects. Specific homeoboxes, growth factors, regulatory proteins, and the extracellular matrix are described and related to their roles in cardiogenesis and in the development of cardiac malformations. In addition, the roles of specific embryonic cell lines are discussed in relation to the formation of cardiac structures. This book also covers the latest developments in technology, including in utero high frequency echocardiographic analysis and magnetic resonance microscopy imaging.
Although this volume is fairly well written and organized, it has some shortcomings from the viewpoint of many clinicians. Because the book is oriented towards the basic sciences, it presents very little clinically applicable information. At times, the technical detail becomes distracting, and the chapters appear to lose their focus on the information that they are trying to convey. Many of the data are drawn from work with animal models, which may or may not have human analogs. Finally, most of the pictures are reproduced in black and white, but their corresponding legends occasionally refer to nonexistent colors.
Despite these drawbacks, the book is a good brief overview of cardiovascular genetics and developmental biology. As the editors state in the preface, “we have just opened the door to a more logical approach and in a sense we are still in the earliest stages of development.” Indeed, in this rapidly changing field, the information contained here may become quickly outdated.