Diagnosis and Management of Marfan Syndrome

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 ofAging.- Patient support.

Dr. Child is a University of Toronto Medical graduate who studied pediatrics, then Medical Genetics in Canada, USA, London (Hospital for Sick Children, Guy's Hospital), before joining the Cardiac and Vascular Sciences Department, St. George's, University of London, as Reader in Cardiovascular Genetics. She has a special interest in Marfan syndrome, with 25 years' experience in diagnosis, management, and research into its many manifestations. She is an author of over 100 scientific papers. As organiser of the International Consortium to find the Marfan syndrome gene (fibrillin-1) in 1991, and a major contributor of over 200 genotype - phenotype correlations to the International Marfan Database held in Paris, she has an overview of clinical and molecular genetic studies. [Most importantly, she is genetic advisor to the national AIMS Trial of Irbesartan, involving 27 centres in the UK. This should determine whether Irbesartan is a medication which can preserve aortic wall architecture and prevent dissection.] Medical advisory links with the Marfan Association and the Marfan Trust (both of whom she helped to establish), have helped Dr Child to assemble a wealth of clinical and laboratory data, based on experience with over 3000 families with Marfan syndrome.

"A multiauthor and multidisciplinary text on Marfan syndrome describes in 27 chapters the diagnosis, clinical, psycho-social and therapeutic aspects of this less rare than thought disease. To the best of my knowledge, the first book of its kind." (Pediatric Endocrinology Reviews (PER), 2017)

"This book will be useful for all personnel involved in taking care of patients with Marfan syndrome ... . This state-of-the-art book offers the most comprehensive collection of seminal knowledge about Marfan syndrome both in the pediatric and adult patient populations. It provides practice guidelines as well as step-by-step instructions on what to expect, what to do, what to avoid, and how to manage, patients with Marfan syndrome." (Fahad Javed, Doody's Book Reviews, July, 2016)