Metabolic Cardiomyopathy, 2nd ed.
Hansjosef Böhles, Adrian C. Sewell, eds.
166 pp. Illustrated. Stuttgart, Germany: Medpharm Scientific Publishers; 2004. $78.00. ISBN: 3-88763-104-8
Cardiovascular disease has long been recognized as a significant contributor to morbidity and mortality in children and adults with inherited metabolic disorders. More recently, an increased understanding of inborn errors of metabolism has emerged from genetic studies, improved diagnostic testing, and clinical trials of novel enzyme replacement therapies. The second edition of Metabolic Cardiomyopathy is a compilation of articles that reviews the present understanding of cardiomyopathies and related cardiovascular disorders of metabolic origin. As stated in the editors’ forward, the goal of this book is to provide practical information to clinicians involved in the care of pediatric and adult patients with metabolic cardiomyopathy. It is not intended to provide an exhaustive overview of specific diseases. Toward this end, Metabolic Cardiomyopathy succeeds in providing general guidelines for diagnostic testing and therapeutic decision-making of selected disorders.
Originally published in 1995, the book is a concise, multi-authored text by physicians and investigators with expertise in the care of patients with metabolic disease. It consists of 15 relatively short chapters with multiple subheadings, and black and white and color images that are clearly presented with concise legends. Chapter 1 provides a brief overview of the differential diagnosis of dilated and hypertrophic cardiomyopathies, and chapters 2 and 15 describe the roles of endomyocardial biopsy and laboratory medicine, respectively, in making a specific diagnosis. In particular, the description of a single institutional experience of 95 endomyocardial biopsies in childhood demonstrates the safety (1 perforation) and diagnostic yield (75% helpful) of this invasive procedure. Chapters 3 through 14 discuss cardiomyopathies related to specific metabolic disorders such as carnitine deficiency, defects in long chain fatty acid oxidation, and Gaucher’s disease. Line drawings detailing the relevant metabolic pathways are included in several chapters and help the reader to focus on the specific disease entities.
Some of the shorter chapters are limited in scope and include only case reports of rare diseases with cardiovascular involvement (eg, β-ketothiolase deficiency, carbohydrate-deficient glycoprotein syndrome). Other chapters provide more comprehensive overviews of a single disease or a group of metabolically related disorders. For example, chapter 6 presents a detailed overview of the glycogen storage diseases, followed by an updated discussion of genetics, cytosolic versus vacuolar storage, and treatment options. Other, more comprehensive chapters include discussions of the mucopolysaccharidoses (chapter 10) and Fabry disease (chapters 13 and 14). In particular, the chapter on Anderson-Fabry disease-associated cardiomyopathy provides a general overview of the multisystem disease resulting from α-galactosidase A deficiency, followed by a focused review of cardiac manifestations, including the late onset cardiac variant and the role of α-galactosidase replacement therapy. Notably, recent studies demonstrating regression of concentric hypertrophy with enzyme replacement are highlighted. Another interesting chapter deals with congenital disorders of glycosylation that have been associated with both dilated and hypertrophic cardiomyopathy. The authors suggest that these disorders are underrecognized and stress the importance of considering metabolic abnormalities in children or young adults with unexplained cardiomyopathy.
As with any compilation of articles, there is minor overlap between chapters and some inconsistency in referencing (eg, ordinal versus alphabetical listing). In several chapters, the references are older and should to be updated for the third edition as the knowledge base continues to grow. There are also minor discrepancies in terminology (eg, dilated versus dilative cardiomyopathy) and use of older terms (eg, congestive cardiomyopathy), but these do not detract from the overall presentation of the material. Multiple chapter subheadings help to keep the reader focused on specific metabolic deficiencies. One notable omission from the book is a chapter on primary hyperoxaluria and its associated cardiomyopathy due to deposition of calcium oxalate crystals.
For general pediatricians, adult and pediatric cardiologists, and internists who are interested in metabolic disorders or care for an individual patient with one of these uncommon diseases, this book will offer a useful addition to their reference shelf. However, for medical students and house officers searching for a more complete overview of metabolic diseases and their cardiovascular manifestations, this text should be supplemented by standard textbook chapters or state-of-the art review articles.