Chapter category: Extracellular Matrix
Historical Introduction: The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account
Marfan Syndrome: A Primer for Clinicians
and Scientists
Edited by: Peter Robinson and Maurice GodfreyISBN: 0-306-48238-X
» Get more information about this book at landesbioscience.com «
Chapter authors:
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 Williams was never associated with the disorder we now call Marfan syndrome. The reason is clear: Williams was geographically removed from the leading medical centers and published in the Transactions of the American Ophthalmological Society; surely his report attracted little attention and the non-ocular features were not emphasized. The case report2 that brought the disorder to attention was provided by a prominent Parisian professor of pediatrics, Antoine Bernard-Jean Marfan (1858-1942), who did much to establish pediatrics as a specialty in France and elsewhere. He was the author of widely read textbooks and monographs on pediatric topics and was editor of Le Nourrisson for a great many years. In addition to the syndrome under discussion here, his name is often attached to “Marfan’s law” (that immunity to pulmonary phthisis is conferred by the healing of a local tuberculous lesion) and Marfan’s subxiphoid approach for aspirating fluid from the pericardial sac.3 (Please pardon my use of the possessive form of the eponym in these two instances!) Pictures of Marfan (Fig. 2A, 1960)4 show him as a goateed gentleman confirming the report to me by Edwards A. Park, Johns Hopkins Professor of Pediatrics, who visited Marfan’s clinic in the 1920s. Dr. Park told me that Marfan was the only man he ever knew who could play Mephistopheles without special makeup! The patient Gabrielle P. was 5 1/2 years old at the time of Marfan’s original report in 1896,5 and 11 1/2 years old at the time of the follow-up report by Méry and Babonneix,6 who called the condition “hyperchondroplasie”. By the time of the latter report, the method introduced by Wilhelm Röntgen in the same year as Marfan’s report had found its way into clinical practice and was used to study Gabrielle’s scoliosis. Gabrielle had fibrous contractures of the fingers, but no ocular or cardiac abnormalities were noted. The illustrations of the hands and feet in Marfan’s original report (Fig. 2B, 1960)4 are consistent with the Marfan syndrome, but are also consistent with congenital contracture arachnodactyly, which is the diagnosis proposed by Beals and Hecht in 1971.7
Additional chapters 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 ind...
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 cha...
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. Hu...
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 envir...
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 th...
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 cilia...
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 c...
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. Hu...
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 microf...
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 fi...
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 ...
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 function...
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 estab...
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, certai...
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 ...
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 i...
