- Email: [email protected]
Genetics and birth defects in clinical practice
560
oesophageal echocardiography, excercise echocardiography and intra-operative echocardiography. In each chapter the emphasis is on cross-sectional echocardiographic analysis, although appropriate M-mode sections are also shown and the relative value of M-mode and cross-sectional echocardiography discussed. Cross-sectional views are shown alongside pathological specimens allowing easy interpretation of the echocardiographic plane and facilitating the understanding of the patho-physiological relationship. I found this approach most useful in the chapters on the analysis of patients with complex congenital heart disease. At the end of each chapter there is an extensive bibliography providing material for further study. In summary, I think this book is well written and has a large number of high quality prints of both cross-sectional echocardiographic images and pathological specimens. It provides an excellent review of the pathophysiology and investigation of patients with heart disease and is to be recommended to both adult and paediatric cardiologists. Brompton Hospital London. U.K.
Paul Oldershaw
Genetics and Birth Defects in Clinical Practice M. Feingold Little,
and H. Pashayan
Brown & Co., (Boston),
1983;
280 pp.; &31
Congenital heart defects occur often as part of multiple malformation syndromes some of which have a recognised genetic basis. Therefore, the paediatric cardiologist is likely to be called upon frequently to make a syndrome diagnosis, assess overall prognosis and counsel the parents. However, the large and growing number of syndromes with their sometimes vague and confusing features, and even more confusing plethora of names make reference texts essential. Feingold and Pashayan have made a useful contribution to this genre. The first 63 pages of this compact book deal with general principles of genetic mechanisms, counselling, prenatal diagnosis and clinical evaluation. This is followed by 180 pages of syndromes most with a black-and-white illustration and all laid out in standard format and with key references. These are separated into three sections; general syndromes, skeletal dysplasias and chromosomal anomalies. As an aid to the use of the syndrome descriptions, there are 11 pages where syndromes are tabulated alphabetically according to whether they have particular features; deafness, cleft palate, hypertelorism and so on. The table of main interest to the cardiologist is table 6-13, which lists syndromes associated with congenital heart disease. Of the 51 syndromes 19 are chromosome anomalies. The “chromosome” list is perhaps a little unnecessary since with very few exceptions all chromosome disorders are associated with a high risk of heart malformation. Trisomy 18 is most certainly not one of those exceptions. The clinical description on page 233 does not include heart defects, which in fact are present in about 70% and this omission accounts for the absence from the table. There are other striking omissions. The five storage syndromes including Hurler syndrome, and the connective tissue disorders, Marfan syndrome, the Ehler Danlos syndromes and osteogenesis imperfecta, are not indexed on the grounds that the cardiovascular involvement is not congenital. For more obvious reasons the conduction defects of myotonic dystrophy and the vascular occlusive disease of progeria and Fabry’s disease are also omitted, as is the
561
occasional cardiomyopathy of Jeune syndrome. Larsen syndrome, Robinow syndrome and Klippel-Feil malformation are all recorded as being associated with heart malformation, but are not included in table 6-13. The overgrowth syndrome, Beckwith Wiedemann syndrome, is said in this text to include cardiomegaly only, but the last of their key references is to Greenwood’s 1977 paper which emphasized the high frequency of structural malformations. Several syndromes in the book have been reported with cardiac anomalies but the association is not mentioned. Conversely, the inclusion of hypochondroplasia is an error of commission since it is not associated with heart defects and thus should not be featured in this list. The authors do emphasize that this is a selected list of syndromes - 148 according to the dust-cover. This is less than a quarter of the total number of such syndromes now reported in the literature, so inevitably even with corrections, the tabulation is far from comprehensive. However, a similar criticism may be levelled at any other syndrome catalogue. Despite these deficiencies this book does present a lot of useful information. When a doctor is called upon to advise a family there is much to be said for referring to several texts. This is valuable not only to obtain a consensus on clinical features and genetic mechanisms, but equally important where dysmorphic features are present, to have access to as many clinical photographs of the condition as possible. Therefore, while D.W. Smith’s Recognizable Patterns of Malformation and Bergsma’s Birth Defects Compendium remain the general texts of first choice, this volume by Feingold and Pashayan should be seen as a valuable supporting volume which deserves to find its way onto a great many library shelves. Clinical Genetics Institute London,
Unit of Child Health U.K.
John
Burn
Handbook of Hypertension, Vol. 3 Editor:
P.A. van Zwieten,
Elsevier Science Publishers B.V., Amsterdam, 1984; 384 pp.; $99.00; 90313-5
ISBN 0-444-
This book is the first to be published of six different volumes which together form the Handbook of Hypertension. This present volume covers the basic pharmacology of antihypertensive drugs while a later volume will cover the clinical pharmacology of these drugs. As an up-to-date expert volume on basic pharmacology, this is an excellent text. It is particularly good as a source of reference and as an authoritative text balancing the evidence and assessing whether a current idea is an established fact, an agreed hypothesis or a point of contention. It should, however, be remembered that this is a book about basic and not clinical pharmacology and as such will probably be of less interest to a practising clinician than the future volumes in this series. Indeed, speaking as a clinician, I found it somewhat frustrating to read such an elucidating account of animal pharmacology without mention often of whether human experiments were confirmatory or otherwise. It is somewhat difficult to assess this volume in isolation. For example, there is an excellent 40-page chapter on the difficult topic of animal models in experimental hypertension, yet Volume 4 in this series is devoted entirely to experimental models of hypertension.
oesophageal echocardiography, excercise echocardiography and intra-operative echocardiography. In each chapter the emphasis is on cross-sectional echocardiographic analysis, although appropriate M-mode sections are also shown and the relative value of M-mode and cross-sectional echocardiography discussed. Cross-sectional views are shown alongside pathological specimens allowing easy interpretation of the echocardiographic plane and facilitating the understanding of the patho-physiological relationship. I found this approach most useful in the chapters on the analysis of patients with complex congenital heart disease. At the end of each chapter there is an extensive bibliography providing material for further study. In summary, I think this book is well written and has a large number of high quality prints of both cross-sectional echocardiographic images and pathological specimens. It provides an excellent review of the pathophysiology and investigation of patients with heart disease and is to be recommended to both adult and paediatric cardiologists. Brompton Hospital London. U.K.
Paul Oldershaw
Genetics and Birth Defects in Clinical Practice M. Feingold Little,
and H. Pashayan
Brown & Co., (Boston),
1983;
280 pp.; &31
Congenital heart defects occur often as part of multiple malformation syndromes some of which have a recognised genetic basis. Therefore, the paediatric cardiologist is likely to be called upon frequently to make a syndrome diagnosis, assess overall prognosis and counsel the parents. However, the large and growing number of syndromes with their sometimes vague and confusing features, and even more confusing plethora of names make reference texts essential. Feingold and Pashayan have made a useful contribution to this genre. The first 63 pages of this compact book deal with general principles of genetic mechanisms, counselling, prenatal diagnosis and clinical evaluation. This is followed by 180 pages of syndromes most with a black-and-white illustration and all laid out in standard format and with key references. These are separated into three sections; general syndromes, skeletal dysplasias and chromosomal anomalies. As an aid to the use of the syndrome descriptions, there are 11 pages where syndromes are tabulated alphabetically according to whether they have particular features; deafness, cleft palate, hypertelorism and so on. The table of main interest to the cardiologist is table 6-13, which lists syndromes associated with congenital heart disease. Of the 51 syndromes 19 are chromosome anomalies. The “chromosome” list is perhaps a little unnecessary since with very few exceptions all chromosome disorders are associated with a high risk of heart malformation. Trisomy 18 is most certainly not one of those exceptions. The clinical description on page 233 does not include heart defects, which in fact are present in about 70% and this omission accounts for the absence from the table. There are other striking omissions. The five storage syndromes including Hurler syndrome, and the connective tissue disorders, Marfan syndrome, the Ehler Danlos syndromes and osteogenesis imperfecta, are not indexed on the grounds that the cardiovascular involvement is not congenital. For more obvious reasons the conduction defects of myotonic dystrophy and the vascular occlusive disease of progeria and Fabry’s disease are also omitted, as is the
561
occasional cardiomyopathy of Jeune syndrome. Larsen syndrome, Robinow syndrome and Klippel-Feil malformation are all recorded as being associated with heart malformation, but are not included in table 6-13. The overgrowth syndrome, Beckwith Wiedemann syndrome, is said in this text to include cardiomegaly only, but the last of their key references is to Greenwood’s 1977 paper which emphasized the high frequency of structural malformations. Several syndromes in the book have been reported with cardiac anomalies but the association is not mentioned. Conversely, the inclusion of hypochondroplasia is an error of commission since it is not associated with heart defects and thus should not be featured in this list. The authors do emphasize that this is a selected list of syndromes - 148 according to the dust-cover. This is less than a quarter of the total number of such syndromes now reported in the literature, so inevitably even with corrections, the tabulation is far from comprehensive. However, a similar criticism may be levelled at any other syndrome catalogue. Despite these deficiencies this book does present a lot of useful information. When a doctor is called upon to advise a family there is much to be said for referring to several texts. This is valuable not only to obtain a consensus on clinical features and genetic mechanisms, but equally important where dysmorphic features are present, to have access to as many clinical photographs of the condition as possible. Therefore, while D.W. Smith’s Recognizable Patterns of Malformation and Bergsma’s Birth Defects Compendium remain the general texts of first choice, this volume by Feingold and Pashayan should be seen as a valuable supporting volume which deserves to find its way onto a great many library shelves. Clinical Genetics Institute London,
Unit of Child Health U.K.
John
Burn
Handbook of Hypertension, Vol. 3 Editor:
P.A. van Zwieten,
Elsevier Science Publishers B.V., Amsterdam, 1984; 384 pp.; $99.00; 90313-5
ISBN 0-444-
This book is the first to be published of six different volumes which together form the Handbook of Hypertension. This present volume covers the basic pharmacology of antihypertensive drugs while a later volume will cover the clinical pharmacology of these drugs. As an up-to-date expert volume on basic pharmacology, this is an excellent text. It is particularly good as a source of reference and as an authoritative text balancing the evidence and assessing whether a current idea is an established fact, an agreed hypothesis or a point of contention. It should, however, be remembered that this is a book about basic and not clinical pharmacology and as such will probably be of less interest to a practising clinician than the future volumes in this series. Indeed, speaking as a clinician, I found it somewhat frustrating to read such an elucidating account of animal pharmacology without mention often of whether human experiments were confirmatory or otherwise. It is somewhat difficult to assess this volume in isolation. For example, there is an excellent 40-page chapter on the difficult topic of animal models in experimental hypertension, yet Volume 4 in this series is devoted entirely to experimental models of hypertension.