Marfan Syndrome: A Primer for Clinicians
and Scientists
|
Edited By:Peter RobinsonUniversitätsklinikum Charite Maurice Godfrey University of Nebraska ISBN: 978-0-306-48238-0 Published: 2004-10-15 This book may be purchased as an eBook (pdf) for $99, or individual chapters (pdf) may be purchased from the list below for $19. |
Chapters available from this book
Diagnosis and Treatment of Marfan Syndrome—A Summary
Anne H. Child, Luitgard Neumann and Peter N. Robinson
Marfan syndrome (MFS) is a dominantly inherited disease of connective tissue with diverse manifestations (Table 1), involving primarily the skeletal, ocular, and cardiovascular systems. Affected individuals may have a characteristic habitus including tall stature and dolichostenomelia, arachnodac...
Surgery for Cardiovascular Disorders in Marfan Syndrome: The Atrioventricular Valves, Distal Aortic Segments and Myocardium
Roland Hetzer, Reinhard Pregla and Frank Barthel
The life expectancy of patients with Marfan syndrome is primarily limited by severe complications of the malformations of the aortic root and the ascending aorta root typical of the disease. The characteristic structural defects of the aortic wall give rise to acute type A dissection, i.e., disru...
Cardiovascular Surgery: Surgical Management of the Marfan Patient at the Johns Hopkins Hospital
Duke E. Cameron and Vincent L. Gott
Over the past 25 years, there has been remarkable progress in surgical management of the Marfan patient with aortic root aneurysm. The introduction in 1966 of the composite graft procedure by Mr. Hugh Bentall in London was a major step forward in the successful treatment of these aneurysms and wa...
Organization and Biomechanical Properties of Fibrillin Microfibrils
Cay M. Kielty, Tim J. Wess, J. Louise Haston, Michael J. Sherratt, Clair Baldock and C. Adrian Shuttleworth
The evolution and function of multicellular organisms has required tissue flexibility and the necessity to withstand stretch. These properties underpin movement and allow responses to changing environments. The elastic fibre is a bio-composite material composed of two insoluble extracellular matr...
Familial Thoracic Aortic Aneurysms and Dissections
Sumera N. Hasham and Dianna M. Milewicz
Ascending aortic aneurysms leading to type A aortic dissections are the major cardiovascular complication of the Marfan syndrome (MFS). MFS is a major genetic syndrome predisposing individuals to these aortic conditions but other genetic syndromes also have similar aortic problems. In addition, a...
Ophthalmological Aspects
Thomas Rosenberg
The eye is involved in a majority of patients affected by Marfan syndrome. Morphological changes essentially affect the microfibrillar elements of the corneoscleral envelope, the iris, and the ciliary zonules, giving rise to clinically and diagnostically significant characteristics. The ophthalmo...
Genetics of Marfan Syndrome in Mouse Models
Emilio Arteaga-Solis, Harry Dietz and Francesco Ramirez
Tensile strength and resilience are critically important properties of the connective tissue that are afforded by the assembly of specialized collagenous and elastic fiber networks. In addition to conferring integrity to virtually every organ system, these extracellular macroaggregates are also i...
Cardiovascular Surgery (II): Surgical Management of the Marfan Patient at the Johns Hopkins Hospital
Duke E. Cameron and Vincent L. Gott
Over the past 25 years, there has been remarkable progress in surgical management of the Marfan patient with aortic root aneurysm. The introduction in 1966 of the composite graft procedure by Mr. Hugh Bentall in London was a major step forward in the successful treatment of these aneurysms and wa...
Cardiovascular Aspects of the Marfan Syndrome—A Systematic Review
Yskert von Kodolitsch and Maike Rybczynski
The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue caused by mutations of the fibrillin-1 gene, which codes for fibrillin, a major component of the extracellular microfibrils. The mean life expectancy in untreated MFS is 32 years with aortic dissection, aortic ruptur...
Insights into Fibrillin-1 Structure and Function from Domain Studies
Pat Whiteman and Penny A. Handford
Structural information is required to understand the assembly of fibrillin-1 into 10-12 nm microfibrils and to gain insight into the consequences of Marfan syndrome (MFS)-causing mutations. Since fibrillin-1 is a modular protein (Fig. 1), a dissection approach has been used to generate structural...
The Marfan Mutation Database
Gwenaëlle Collod-Béroud and Catherine Boileau
Mutations in the fibrillin gene (FBN1) were described at first in Marfan syndrome (MFS) patients. Subsequently, the gene was shown to harbor mutations related to a spectrum of conditions clinically related to MFS, the «type-1 fibrillinopathies». In an effort to standardize the information regardi...
Microfibril-Associated Glycoprotein-1 (MAGP-1) and Other Non-fibrillin Macromolecules Which May Possess a Functional Association with the 10 nm Microfibrils
Mark A. Gibson
There is growing evidence that fibrillin-containing microfibrils are not just fibrillin polymers but that a variety of additional macromolecules may be associated with these structures. The functions of these molecules may be envisioned to include a) structural support to stabilize the interactio...
The Biogenesis and Cell Biology of Peroxisomes in Human Health and Disease
Stanley R. Terlecky and Paul A. Walton
Recent results have demonstrated that the molecular mechanisms of peroxisomal membrane biogenesis and the post-translational import of proteins into the organelle do not follow those paradigms established for other subcellular organelles. As such, we have much to learn about the peroxisome, and t...
Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome: Sensitivity, Methods, Clinical Indications
Anne De Paepe, Bart Loeys and Paul Coucke
Since the discovery of the FBN1 gene as the gene responsible for the Marfan syndrome (MFS), molecular testing for this condition has become possible. Although MFS is a clinical diagnosis, certain situations may occur in which molecular analysis of the FBN1 gene is wanted, either for diagnostic...
Assembly of Microfibrils
Kerstin Tiedemann, Boris Bätge and Dieter P. Reinhardt
Fibrillins are physiologically secreted as extended thread-like monomers into the extracel- lular matrix by many cell types. The mature functional entity, however, is constituted by higher order aggregates which are called microfibrils.1 The assembly process of forming these supramolecular stru...
Historical Introduction: The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account
Victor A. McKusick
In 1876, E. Williams,1 an ophthalmologist in Cincinnati, Ohio, described ectopia lentis in a brother and sister who were exceptionally tall and had been loosejointed from birth. Although there is a Williams syndrome that has aortic manifestations (supravalvar aortic stenosis), the name William...
