Diagnosis and Management of Marfan Syndrome

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.

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.​