Diagnosis and Management of Marfan Syndrome

1. Front Matter

   Pages i-xiii

   PDF

2. Introduction

   • Anne H. Child

   Pages 1-2

3. Diagnosis and Management (Summary)

   • Anne H. Child

   Pages 3-11

4. Diagnosis and Management of Acute Complications Associated with Marfan Syndrome: Pitfalls in the Emergency Setting

   • Don B. Wijetunge, Anne H. Child

   Pages 13-19

5. Infantile and Neonatal Marfan Syndrome

   • Anne H. Child

   Pages 21-25

6. The Child with Marfan Syndrome: A Paediatric Cardiology Approach

   • Graham Stuart

   Pages 27-38

7. Cardiac Management

   • Yukiko Isekame, Sabiha Gati

   Pages 39-55

8. Echocardiography in Diagnosis and Management of Patients with Marfan Syndrome

   • Anna Marciniak, Rajan Sharma

   Pages 57-71

9. Cardiovascular Magnetic Resonance in Marfan Syndrome

   • Ee Ling Heng, Raad H. Mohiaddin

   Pages 73-99

10. Thoracic Aortic Surgery in Marfan Syndrome

    • Pouya Youssefi, Marjan Jahangiri

    Pages 101-125

11. Abdominal and Thoracoabdominal Aortic Replacement for Marfan Syndrome

    • Ruwan A. Weerakkody, Ulrich Rosendahl, Anthony L. Estrera, Hazim J. Safi, Nicholas J. Cheshire

    Pages 127-140

12. Ophthalmic Abnormalities in Marfan Syndrome

    • Aman Chandra, David G. Charteris

    Pages 141-144

13. Spinal Deformity in Marfan Syndrome (MFS)

    • Nanjundappa S. Harshavardhana, Mohammed H. H. Noordeen

    Pages 145-164

14. Rheumatological Aspects of Marfan Syndrome

    • Anne H. Child, Rodney Grahame

    Pages 165-167

15. The Role of Physiotherapy in Marfan Syndrome

    • Rosemary J. Keer

    Pages 169-174

16. Pulmonary Manifestations of Marfan Syndrome

    • Anne H. Child, Anita K. Simonds

    Pages 175-180

17. Dental Aspects of Marfan Syndrome

    • Lucy N. Hyde

    Pages 181-183

18. ENT Aspects of Marfan Syndrome

    • Anne H. Child, Joanna Rowntree

    Pages 185-187

19. Gastrointestinal Symptoms in Patients with Marfan Syndrome

    • Benedict Scoones, Anne H. Child

    Pages 189-200

20. The Neurosurgical Manifestations of Marfan Syndrome

    • Timothy L. Jones, Marios C. Papadopoulos

    Pages 201-217

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.​

• Congenital heart disease
• Marfan
• Prenatal screening
• Diagnostics
• Management

“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)

• Cardiovascular & Cell Sciences Research, St George's, University of London, London, United Kingdom

  Anne H. Child

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.

Policies and ethics