Profile of Dr Anne H Child MD FRCP
Reader in Cardiovascular Genetics/Honorary Consultant Cardiology
St George’s NHS Hospital Trust and Medical School;
Royal Brompton & Harefield NHS Trust Hospitals
Dr Anne Child, Medical Director
Dr Child graduated in Medicine from the University of Toronto in 1966, specialising in paediatrics studied in Vancouver, New York and San Francisco. A growing interest in prevention of disease through genetic counselling and early diagnosis lead her to specialise in clinical genetics, firstly in Montreal (McGill University), then at the Institute of Child Health, Hospital for Sick Children, London.
Counselling experience and an interest in Marfan syndrome were gained in the Paediatric Research Unit at Guy’s Hospital, and entry into the field of Marfan syndrome research commenced. She holds diagnostic clinics at St George’s Hospital, Harefield Hospital (Middlesex) and the Brompton Hospital, London.
Dr Child is the author of 80 peer-reviewed articles and invited contributions. Her wide-ranging literature written for different specialties involved in the care of Marfan syndrome patients has been distributed to these specialties throughout the UK, and indeed worldwide. This work has also been translated into every major European language and made available to European patients and physicians through the chain of Marfan syndrome support groups, which Dr Child has helped to establish. She co-founded the Marfan Association UK to improve patient service and support, and co-founded the Marfan Trust UK to ensure that research funds would be available for an ambitious research programme to discover the cause and best treatment of Marfan syndrome.
Dr Child’s research has focused on:
- Methods of clinical diagnosis of Marfan syndrome and differentiation from overlapping syndromes
- Best genetic, medical and surgical management of Marfan syndrome
- Genotype - phenotype correlation in Marfan syndrome
In 1983 Dr Child was awarded an M.Phil. in Medical Genetics at the University of London for elucidating the modes of inheritance of three types of congenital structural heart disease (hypoplastic left heart syndrome, endocardial fibroelastosis and Kartagener syndrome). Although familial recurrence risks were ascertained, molecular genetics were not available to isolate the causative genes at that time.
In 1988 Dr Child was awarded an M.D. (University of Leicester) for her published works dealing with non-invasive ultrasound measurements of the aortic wall in Marfan syndrome and three overlapping connective tissue disorders. With the advent of molecular genetics, the field of cardiovascular research was revolutionised. Between 1987 and the present, national databases of families with early coronary artery disease, Marfan syndrome, Joint Hypermobility syndrome, ectopia lentis, primary lymphoedema, primary lipoedema, primary glaucoma, mitral valve prolapse, adolescent idiopathic scoliosis and abdominal aortic aneurysms have been established and maintained with funding from British Heart Foundation, Arthritis and Rheumatism Council, Medical Research Council, British Scoliosis Research Foundation, National Eye Institute (USA), Royal National Institute for the Blind ( UK), Marfan Trust and Marfan Association (UK), Henry Smith Charity, Abbeydale Trust, London Law Trust, St George’s Hospital Medical School and NHS Trust and private individuals. From these databases, 5 major disease causing genes have been identified.
Clinical publications based on the Marfan syndrome database are wide ranging, including manifestations of eye disease, heart, lung and musculoskeletal disorders. A recent publication demonstrated fibrillin-1 deficiency in skeletal muscle in a patient with generalised muscular weakness. The discovery that ectopia lentis patients have a different type of mutation and a much better long-term prognosis from the cardiac point of view was also published. Special investigation of the 8% of families who do not demonstrate Marfan syndrome mutation in exons 1-65, is planned.
At present mutations are found in 92% of classical Marfan syndrome patients. Each mutation with its clinical features, is reported to the international database of over 600 mutations, of which 189 were discovered in our Sonalee Laboratory. Mutations are used for screening at risk family members and providing antenatal screening of babies, or screening of pre-embroys prior to implantation. (PGD or pre-implantation genetic diagnosis).
Practical research projects include a national drug trial, cardiac ultrasound study of patients with known mutations; questionnaire study of exercise habits; and study of cardiac arrhythmia in Marfan syndrome children and adults.
Publications
Clinical Publications
WOOD JR, BELLAMY D, CHILD AH and CITRON KM. (1984)
Pulmonary Disease in Patients with Marfan Syndrome. Thorax 39, 780-784.
CHILD AH and BIRDWOOD G (eds) (1987).
Marfan Syndrome - A Clinical Guide. British Heart Foundation, London .
CHILD AH and BRIGGS M J Updated version (2002).
Marfan Syndrome - A Clinical Guide. British Heart Foundation, London .
DE BELDER MA, CHILD AH and PUMPHREY CW (1989).
The Timing of Aortic Root Replacement in Marfan Syndrome. Curr. Med. Lit. Cardiovasc. Med. 8(3). 67-70.
BLANTON SH, SARFARAZI M, EIBERG H. DE GROOTE J, FARNDON PA, KILPATRICK M W, CHILD A H, POPE F M, PELTONEN, L, FRANCOMANO , CA (1990).
An exclusion Map of Marfan Syndrome. J. Med. Genet. 27; 73-77.
DE GROOTE J, FARNDON PA, KILPATRICK M, DE PAEPE A, OORTHUYS JW, NEVIN NC, CHILD A H, POPE F M (1990).
Linkage Data for Marfan Syndrome and Markers on Chromosome 1 and 11. J. Med. Genet. 27; 82-85.
KAINULAINEN K, STEINMANN B, COLLINS F, DIETZ HC, FRANCOMANO CA, CHILD AH, KILPATRICK MW, BROCK DJH, KESTON M, PYERITZ, REED E, PELTONEN L (1991).
Marfan syndrome: - No Evidence for Heterogeneity in Different Populations, and more Precise Mapping of the Gene. Am. J. Hum. Genet. 49; 662-667.
KAINULAINEN K, SAKAI LY, CHILD AH, POPE FM, PUHAKKA L, RYHANEN L, PALOTIE A, KATILA I and PELTONEN L. (1992).
Two Mutations in Marfan Syndrome Resulting in Truncated Fibrillin Polypeptides. Proc. Natl. Acad. Sci. USA, Vol. 89, pp. 5917-5921, Genetics.
TSIPOURAS P, DEL MASTRO R, SARFARAZI M, LEE B, VITALE E, CHILD AH, GODFREY M, DEVEREUX RB, HEWETT D, STEINMANN B, VILJOEN D, SYKES BD, KILPATRICK M, RAMIREZ F. (1992).
The International Marfan Syndrome Collaborative Study. Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin genes on Chromosomes 15 and 5. NEJM, 326 (14); 995-909.
SARFARAZI M, TSIPOURAS P, DEL MASTRO R, KILPATRICK M, FARNDON P, BOXER M, BRIDGES A, BOILEAU C, JUNIEN C, HAYWARD C, BROCK D, CHILD AH (1992).
A Linkage Map of 10 Loci Flanking the Marfan Syndrome Locus on 15q: Results of an International Consortium Study. J. Med. Genet.; 29: 75-80.
HEWETT DR, LYNCH JR, CHILD AH, SYKES BC (1994).
A Novel Missense Mutation of Fibrillin in a Patient with Marfan Syndrome. J. Med. Genet. Vol 34. 338-9.
RAGHUNATH M, KIELTY CM, KAINULAINEN K, CHILD AH, PELTONEN L, STEINMANN B. (1994). Analyses of Truncated Fibrillin caused by a 366 bp Deletion in the FBN1 Gene resulting in Marfan Syndrome. Biochem. J. 302, 889-896.
KIELTY CM, PHILLIPS JE, CHILD AH, POPE FM, SHUTTLEWORTH CA. (1994).
Fibrillin Secretion and Microfibril Assembly by Marfan Dermal Fibroblasts. Matrix Biology. 14: 191-199.
HEWETT B, LYNCH J, CHILD AH, FIRTH H, SYKES BC (1994)
Differential Allelic Expression of a Fibrillin Gene FBN1 in Patients with Marfan Syndrome. Am. J. Hum. Genet. 52, 447-452.
TOBIAS JH, DALZELL N, CHILD AH. (1995)
Assessment of Bone Mineral Density in Women with Marfan Syndrome. Br. J. of Rheum. 34; 516-519.
SHABBEER J, CHILD AH , YACOUB M. (1995)
Molecular and Surgical Aspects of Marfan Syndrome. Annual of Cardiac Surgery, 8th Edition (eds. M. Yacoub and J. Pepper), Current Science, pages 56-61.
RANTAMAKI T, RAGHUNATH M, KARTTUNEN S, LONNQVIST L, CHILD AH, & PELTONEN L. (1995).
Prenatal Diagnosis of Marfan Syndrome: Identification of Fibrillin-1 Mutation in Chorionic Villus Sample. Prenatal Diagnosis, 15: 1176-1181.
THOMAS SM, YOUNGER KA, CHILD AH, WILSON AG (1996).
Is the Metacarpal Index Useful in the Diagnosis of Marfan Syndrome? Cl. Radiol. 51: 570-574.
CHILD AH.
Marfan Syndrome - Current Medical and Genetic Knowledge: How to Treat and When. (1997). J. Card. Surg. 12 (Suppl.) 131-136.
COMEGLIO P, EVANS, A L, BRICE, G, COOLING, R J, CHILD A H.
Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Br J Ophthalmol 2002:86: 1359-1362.
WILLIAMS A, CHILD A H, ROWNTREE J, JOHNSON P, DONNAI P.
Marfan syndrome; successful pregnancy after aortic root and arch replacement. BJOG. 2002 Oct ; 109(10):1187-8.
COMEGLIO P, EVANS AL, BRICE GW, ANDERLID BM, CHILD AH.
Gene symbol: FBN1. Disease: Marfan syndrome. Hum Genet. 2003 Jan;112(1):104.
BEHAN WM, LONGMAN C, PETTY RK, COMEGLIO P, CHILD AH, BOXER M, FOSKETT P, HARRIMAN DG.
Muscle fibrillin deficiency in Marfan's syndrome myopathy .
J Neurol Neurosurg Psychiatry. 2003 May;74(5):633-8.
ELCIOGLU N H, AKALIN F, ELCIOGLU M, COMEGLIO, P, CHILD A H.
Neonatal Marfan syndrome caused by exon 25 mutation of the fibrillin-1 gene. Genet Counsel 2004 vol 15 (2):219-225.
CHILD, A H (2005)
Marfan syndrome. In Clinical Medicine , KUMAR P, CLARK M (eds) Saunders.
HASAN A, POLONIECKI J, CHILD A H.
Ageing in Marfan syndrome. International Journal of Clinical Practice (In press 2007)
COMEGLIO P, JOHNSON P, ARNO G, BRICE G, EVANS A, ARAGON-MARTIN J, PEREIRA da SILVA F, KIOTSEKOGLOU A, CHILD A H.
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: Report of 193 FBN1 mutations. Human Mutation (In press 2007)
Book Chapters
CHILD AH (1997)
Management of pregnancy in Marfan syndrome, Ehlers-Danlos syndrome, and other heritable connective tissue disorders. In: Heart Disease in Pregnancy . Oakley CM, ed. BMJ Publishing Group, London . 153-162.
TREASURE T, REYNOLDS C, VALENCIA O, CHILD A H, GALLIVAN S. (1999).
The Timing of Aortic Root Replacement in the Marfan Syndrome: Computerised Decision Support. Cardiac Surgery and Concomitant Disease . Ed. J. Emnker. Steinkopff Verlag Darmstadt .
CHILD, A H, LUITGARD, N, ROBINSON P N.(2004).
Diagnosis and treatment of Marfan syndrome- a summary. In: Marfan syndrome: a primer for clinicians and scientists . Ed.Robinson, P N and Godfrey M. Kluwer Publishing/Landes Bioscience.
CHILD, A H .(2005)
Marfan syndrome. In: Clinical Medicine . Ed. By Kumar P and Clark, M. Saunders, 5 th edition.
Lay Publications
CHILD AH and RUST DL. The Marfan Syndrome: A Booklet for Teachers, 1992. The Marfan Association U.K.
BRICE, G, CHILD A H, STEER P J.
Pregnancy in Marfan syndrome: a pamphlet for obstetricians.2001.The Marfan Trust/Bluff Field Charitable Trust.
CHILD, A H and ed. 2 nd edition Marfan Syndrome 2002. British Heart Foundation.
HYDE, L, ROWNTREE, J, CHILD A H.
Dental aspects of Marfan syndrome. A pamphlet for dentists. 2002 MarfanTrust /Bluff Field Charitable Trust.
CHILD, A H, PRAVEEN, C V, ROWNTREE J, PRIOR A J.
ENT Aspects of Marfan syndrome 2002. Marfan Trust/Bluff Field Charitable Trust.
CHILD, A H, ROWNTREE J, GRAHAME R, MORLEY, T.
Musculoskeletal problems in Marfan syndrome: a pamphlet for rheumatologists and orthopaedic surgeons.2002 Marfan Trust/Bluff Field Charitable Trust.
CHILD, A H, ROWNTREE, J.
Growing older with Marfan syndrome. 2003. Marfan Trust/Bluff Field Charitable Trust.