Marfan Syndrome: A Primer For Clinicians And Scientists

Front Cover
Peter N. Robinson, Maurice Godfrey
Springer Science & Business Media, Nov 2, 2004 - Medical - 218 pages
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.
 

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Contents

Historical Introduction The Marfan Syndrome From Clinical Delineation to Mutational Characterization a Semiautobiographic Account
1
Tutelage in the Principle of Pleiotropism
3
Clinical Delineation of Marfan Syndrome and Three Main Principles of Clinical Genetics
4
The Evolution of Clinical Management of the Marfan Syndrome
6
The Basic Defect
7
Marfan Support Groups
8
Public Awareness of Marfan Syndrome
9
Epilogue
10
Methodology for Mutational Analysis of the FBN1 Gene
95
Clinical Indications for Mutation Analysis of the FBN1 Gene
97
The Marfan Mutation Database
101
Routines
102
Mutation Analyses
103
FBN1 Polymorphism Database
110
Familial Thoracic Aortic Aneurysms and Dissections
113
Thoracic Aortic Aneurysms and Dissection Associated with Genetic Syndromes
114

Diagnosis and Treatment of Marfan SyndromeA Summary
13
Clinical Management
16
Inheritance
17
The Differential Diagnosis of Marfan Syndrome
19
Orthopaedic Problems in Marfan Syndrome
24
Spinal Abnormalities
25
Hip Deformity
30
Joint Manifestations
31
Screening and Athletics
32
Ophthalmological Aspects
35
Clinical Signs
37
Retina
38
Ophthalmological Differential Diagnosis
39
Complications
40
Management
41
Surgery
42
Cardiovascular Aspects of the Marfan Syndrome A Systematic Review
45
Prognosis and Causes of Death in Untreated MFS
46
Prevalence of Cardiovascular Manifestations
47
Pathogenesis of Cardiovascular Disease
50
Concomitant Cardiovascular Disease
52
Cardiovascular Complications
53
Pregnancy
58
Diagnosis of Cardiovascular Abnormalities
59
General Measures of Management
60
Indications for Surgery
61
Surgically Treated MFS Patients
62
Strategies for FollowUp
63
Surgical Management of the Marfan Patient at the Johns Hopkins Hospital
70
Surgical Procedures
73
Long Term Results of Surgery
76
Long Term Management Following Aortic Root Replacement
80
Surgery for Cardiovascular Disorders in Marfan Syndrome The Atrioventricular Valves Distal Aortic Segments and Myocardium
81
Atrioventricular Valves in Marfan Patients
82
Indications for Atrioventricular Valve Surgery
83
Techniques of Surgery
84
Surgery of the Distal Aortic Segments
85
Distal Type B Dissections and Aneurysm Formation in the Distal Aorta Following Ascending Replacement in Type A Dissection
89
Cardiomyopathy in Marfan Patients
90
Noncardiac Marfan Anomalies Affecting Cardiac Surgery Operations
91
Mutation Analysis of the FBN1 Gene in Individuals with Marfan Syndrome Sensitivity Methods Clinical Indications
93
Familial Thoracic Ascending Aortic Aneurysms and Dissections
115
Fibrillin2 Mutations in Congenital Contractural Arachnodactyly
123
SevereLethal CCA
124
Molecular Genetics of CCA
126
Fibrillin2 in Development and Animal Models
127
Assembly of Microfibrils
130
Microfibril Assembly Is Often Disturbed in Individuals with MFS
131
Role of Propeptide Processing in Fibrillin Assembly
133
Role of Intermolecular CrossLink Formation in Fibrillin Assembly
134
Interaction Epitopes Important for Fibrillin Assembly
136
Mouse Models and Fibrillin Assembly
138
Future Directions
139
Organization and Biomechanical Properties of Fibrillin Microfibrils
143
Tissue Organisation of FibrillinRich Microfibrils
144
Organisation of Isolated Microfibrils
148
Mechanical Properties of Microfibrils
150
MicrofibrilAssociated Glycoprotein1 MAGP1 and Other NonFibrillin Macromolecules Which May Possess a Functional Association with the 10 nm ...
161
MAGPs
162
Function of MAGPs
165
Other Small MicrofibrilAssociated Proteins MFAPs
167
Proteoglycans
169
Fibulins
170
LTBPs
171
Emilins
172
The Fibrillins and Key Molecular Mechanisms that Initiate Disease Pathways
178
How FBN Mutations Initiate Disease
179
Mutations Result in Poorly Assembled Microfibrils andor Microfibril Instability
181
Effects of Fibrillin Mutations on Growth Factors
183
New Research Opportunities Relevant to the Marfan Syndrome
185
Insights into Fibrillin1 Structure and Function from Domain Studies
188
Calcium Binding Properties of Fibrillin1
191
Structural Consequences of FBN1 Mutations
192
Correlation of Structural Studies with the Cellular Effects of Missense Mutations
195
Genetics of Marfan Syndrome in Mouse Models
199
Mouse Models of MFS
200
Instructive Roles of Microfibrils
203
Perspectives
205
Marfan Syndrome Patient Organizations
209
INDEX
215
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