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Ali J Marian. London: ReMedica Publishing. 2001. ISBN 1 901346 09 9.
Nowadays, you can hardly open a cardiology journal without finding at least a few papers describing the latest advances in one or other aspect of the genetics of cardiovascular disease. For those not familiar with the terminology or techniques, enjoyment and appreciation of the, often excellent, underlying science can be a frustrating experience. This short book of less than a 100 pages (including glossary), one of a series of monographs covering various clinical specialities, provides a digestible introduction to the field of genetics and a summary of the findings for both monogenic and complex cardiovascular disorders as things existed in 2000. A brief description of commonly used genetic analysis techniques is also given.
The familiar cardiovascular disorders with a well established genetic basis, such as hypertrophic cardiomyopathy, long QT syndrome, hypertension, and atherosclerosis, are all covered. However, many cardiologists will be surprised to learn, as I was, of the existence of familial forms of a myxoma syndrome as well as patent ductus arteriosus. In pursuit of uniformity, an attempt is made to discuss the data on each disorder using the same subheadings (for example, mutational spectrum, effect of mutation, molecular pathogenesis, genotype-phenotype correlation, etc.) This is only partly successful because for many of the conditions, information on one or more of these aspects remains unknown. A brief clinical description of each condition is given. For a cardiologist, this information is probably unnecessary. Although the book is aimed at this readership, I suspect that it will perhaps be most helpful to young scientists working in the field of genetics of cardiovascular disease who need a general introduction to the field, and especially the important clinical aspects. However, there are a few errors, such as the statement that onset of familial atrial septal defect occurs in the third and fourth decades when it is, of course, congenital. A limitation is that references to original articles are not given.
I enjoyed reading the book and compilation of genetic data on all diseases related to a particular system has much to commend it, for both the specialist as well as a general reader. However, the genetic field is moving rapidly, nowhere more so than in cardiology. There-fore, through no fault of the author, some of the data are already out of date and exciting new discoveries, for example, the finding that mutations in the bone morphogenetic protein receptor type II underlie some familial forms of primary pulmonary hypertension, are not covered. To be most valuable, this sort of book needs to be regularly updated. In this electronic age, this should be possible. Dr Marian has made a good start and I hope he feels motivated to produce further editions.