Diagnosis and Management of Marfan Syndrome [recurso electrónico

This book has been written in response to the many excellent questions posed by our patients and their care teams, questions which deserve the best-informed and up to date answers provided by our experts in each of the many health areas affected by Marfan syndrome. The aim of this text is to provide a summary of the present day understanding of diagnosis, management and best medical and surgical treatment of infants, children and adults with Marfan syndrome. The authors cover the lifelong problems from birth to old age, in each affected system. Forty percent of this information is the result of new careful research based on a well-defined longitudinally studied UK patient population.​ The Aim Of This Text Is To Provide A Summary Of The Present Day Understanding Of Diagnosis, Management, And Best Medical And Surgical Treatment Of Marfan Syndrome. The Authors Cover Lifelong Problems, From Birth To Old Age, In Each Affected System. Patients May Initially Be Referred To Any One Of A Number Of Specialists And Although Each Doctor Is Likely To Be Familiar With A Particular Aspect Of The Syndrome, They Are Less Likely To Be Familiar With Its Other Features. The Fact That The Syndrome Presents In Many Different Ways May Also Hinder Its Recognition. By Making This Information Available, Diagnosis And Management Of Marfan Syndrome Aims To Raise Awareness Of Marfan Syndrome, And To Promote Best Management Aimed At Prolonging Lifespan And Improving Quality Of Life. This Text Has Been Written By A Network Of Expert Physicians Who Wish To Share Their Hard-won Knowledge, And Is A Useful Tool For Any Clinician Likely To Encounter A Patient With This Condition. Introduction -- Diagnosis And Treatment Of Marfan Syndrome -- A Summary -- Neonatal Marfan Syndrome -- The Paediatric Cardiologist And Marfan Syndrome -- Aortic And Cardiac Histopathology In Marfan Syndrome -- Cardiac Management -- Echocardiography In Diagnosis And Management -- Magnetic Resonance Imaging -- Thoracic Aortic Surgery In Marfan Syndrome -- Abdominal And Thoracoabdominal Aorta Replacement For Marfan Syndrome -- Ophthalmic Abnormalities In Marfan Syndrome -- Spinal Deformity In Marfan Syndrome -- Rheumatological Aspects Of Marfan Syndrome -- Pulmonary Manifestations Of Marfan Syndrome -- Psychosocial Aspects Of Marfan Syndrome. Dental Aspects Of Marfan Syndrome -- Marfan Syndrome: Inherited Microfibrillar Disorder Caused By Mutations In The Fibrillin-1 Gene -- Reproductive Decisions -- Pregnancy Management In Marfan Syndrome -- Irritable Bowel Syndrome In Marfan Syndrome -- Genitourinary Tract In Marfan Syndrome -- Neurological Disorder In Marfan Syndrome -- Lifestyle Management And Effects Of Aging -- Patient Support. Anne H. Child, Editor. Includes Index. Front Matter....Pages i-xiii Introduction....Pages 1-2 Diagnosis and Management (Summary)....Pages 3-11 Diagnosis and Management of Acute Complications Associated with Marfan Syndrome: Pitfalls in the Emergency Setting....Pages 13-19 Infantile and Neonatal Marfan Syndrome....Pages 21-25 The Child with Marfan Syndrome: A Paediatric Cardiology Approach....Pages 27-38 Cardiac Management....Pages 39-55 Echocardiography in Diagnosis and Management of Patients with Marfan Syndrome....Pages 57-71 Cardiovascular Magnetic Resonance in Marfan Syndrome....Pages 73-99 Thoracic Aortic Surgery in Marfan Syndrome....Pages 101-125 Abdominal and Thoracoabdominal Aortic Replacement for Marfan Syndrome....Pages 127-140 Ophthalmic Abnormalities in Marfan Syndrome....Pages 141-144 Spinal Deformity in Marfan Syndrome (MFS)....Pages 145-164 Rheumatological Aspects of Marfan Syndrome....Pages 165-167 The Role of Physiotherapy in Marfan Syndrome....Pages 169-174 Pulmonary Manifestations of Marfan Syndrome....Pages 175-180 Dental Aspects of Marfan Syndrome....Pages 181-183 ENT Aspects of Marfan Syndrome....Pages 185-187 Gastrointestinal Symptoms in Patients with Marfan Syndrome....Pages 189-200 The Neurosurgical Manifestations of Marfan Syndrome....Pages 201-217 Genitourinary Tract in Women with Marfan Syndrome....Pages 219-225 Pregnancy Management in Marfan Syndrome....Pages 227-231 Marfan Syndrome (MFS): Inherited Microfibrillar Disorder Caused by Mutations in the Fibrillin-1 Gene....Pages 233-243 Reproductive Decisions....Pages 245-262 Exercise in Marfan Syndrome....Pages 263-271 Ageing in Marfan Syndrome....Pages 273-278 Psychosocial Aspects of Marfan Syndrome....Pages 279-285 Patient Support....Pages 287-299 Back Matter....Pages 301-314