Marfan Syndrome

A Primer for Clinicians and Scientists

Peter N. Robinson, Maurice Godfrey (Herausgeber)

Buch | Hardcover

218 Seiten

2004
Kluwer Academic/Plenum Publishers (Verlag)
978-0-306-48238-0 (ISBN)

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Marfan Syndrome is a hereditary disorder of connective tissue which primarily affects the cardiovascular, skeletal, and ocular systems. This book presents an overview of clinical aspects of Marfan syndrome, FBN1 mutation analysis, the biology of fibrillin and fibrillin-containing microfibrils, and the molecular pathogenesis of the Marfan syndrome.

Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account VictorA. McKusick l n 1876, E. Williams, an ophthalmologistin Cincinnati, Ohio, described ectopia lentis in a brother and sister who were exceptionally tall and had been loosejointed from birth. I 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: Williamswas 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. 2 The case report that brought the disorder to attention was provided by a prominent Pari- sian 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 monographson pediatrictopics and waseditor of Le Nourrisson for a great many years.
In addition to the syndromeunder 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 3 lesion) and Marfan's subxiphoid approach for aspiratingfluid from the pericardial sac. (Please pardon my use of the possessive form of the eponym in these two instances!) Pictures of Marfan (Fig.

Introduction: Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account.- Diagnosis and Treatment of Marfan Syndrome—A Summary.- Orthopaedic Problems in Marfan Syndrome.- Ophthalmological Aspects.- Cardiovascular Aspects of the Marfan Syndrome: A Systematic Review.- Cardiovascular Surgery: Surgical Management of the Marfan Patient at the Johns Hopkins Hospital.- Surgery for Cardiovascular Disorders in Marfan Syndrome: The Atrioventricular Valves, Distal Aortic Segmentsand Myocardium.- Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome: Sensitivity, Methods, Clinical Indications.- The Marfan Mutation Database.- Familial Thoracic Aortic Aneurysms and Dissections.- Fibrillin-2 Mutations in Congenital Contractural Arachnodactyly.- Assembly of Microfibrils.- Organization and Biomechanical Properties of Fibrillin Microfibrils.- Microfibril-AssodatedGlycoprotein-1 (MAGP-1) and Other Non-Fibrillin Macromolecules Which May Possess a Functional Association with the 10 nm Microfibrils.- The Fibrillins and Key Molecular Mechanisms that Initiate Disease Pathways.- Insights into Fibrillin-1 Structure and Function from Domain Studies.- Genetics of Marfan Syndrome in Mouse Models.- Appendix: Marfan Syndrome Patient Organizations.

Erscheint lt. Verlag	2.11.2004
Reihe/Serie	Medical Intelligence Unit
Zusatzinfo	XV, 218 p.
Verlagsort	New York
Sprache	englisch
Maße	155 x 235 mm
Themenwelt	Medizin / Pharmazie ► Medizinische Fachgebiete ► Orthopädie
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
	Naturwissenschaften ► Biologie ► Zellbiologie
ISBN-10	0-306-48238-X / 030648238X
ISBN-13	978-0-306-48238-0 / 9780306482380
Zustand	Neuware