Diagnosis and Management of Marfan Syndrome

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.?

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.