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Kids Heart Research is undertaking research into the genetics of congenital heart disease (CHD). We are collecting DNA samples from children and families with CHD. The DNA from these patients and their families is obtained from a small sample of blood collected during their treatment at Westmead Children's Hospital.

In order to determine the genetic cause of CHD we need to compare the DNA of children/families with CHD and the DNA of unaffected individuals.

To assist us with this research we need 1000 samples from individuals with no history of CHD within 2 generations.

If you would like to be involved with our research by donating a sample of your DNA, please contact Gillian on (02) 9845 2345 or e-mail us at Kidsheart@chw.edu.au

Thank you for your interest in our research.

Contact Information

Summary of Unit

Kids Heart Research is an integrated team of researchers that work on important clinical problems affecting children with congenital heart disease, using a range of basic scientific and translational approaches.

The Children's Hospital at Westmead is the principal site for diagnosis and treatment of children with congenital heart disease in NSW. This affects 1 in 100 children and for some involves several operations and long-term medical care. Congenital heart disease is an important public health issue and research focus.

Aims of Unit

Our three principal areas of interest are:

• Investigating the genetic basis of congenital heart disease
• Improving existing therapies and treatments during and after procedures to correct congenital heart disease
• Optimising long term management of children and adults who have had treatment for congenital heart disease

Current Research

* The role of certain DNA mutations in the development of congenital heart disease

This work involves study of transcription factor pathways that are responsible for normal heart development. We are examining how abnormalities of these factors relate to structural heart disease. This has involved the establishment of the Kids Heart Research DNA Bank, at The Children's Hospital at Westmead as part of collaborative research with Professor Richard Harvey, Victor Chang Cardiac Research Institute.

* Investigating the role of water channels known as 'aquaporins' during recovery from open heart surgery

Water retention, particularly in the heart, is a major problem after surgery and we are looking at how we can influence the role of aquaporin proteins to reduce fluid accumulation and speed recovery through intensive care. We have established a range of models that focus on individual cells, isolated perfused hearts and an animal model that closely replicates human surgery. This work is enhanced through collaboration with Professor Alan Verkman, University of California, San Francisco.

* Optimising outcomes in kids treated for congenital heart disease

Following children as they grow up and attend school is an important part of optimising early treatments. Development of the brain is an important area and we conduct clinical research in this area with A/Professor Nadia Badawi from the Grace Centre for Newborn Care at The Children's Hospital at Westmead. We also lead a project initiated by the Australia and New Zealand Children's Heart Research Centre to study outcomes across our region.

Our Team

• Dr Tanya Butler - Postdoctoral Scientist and Basic Science Team Leader
• Dr Jonathan Egan - PhD Candidate, Paediatric Intensive Care Specialist
• Carol Au - PhD Candidate
• Leigh Waddell - Data Coordinator
• Ms Gina Walizada - Research Assistant
• Andrew Cole - Cardiac Research and Quality Manager, NSW Children's Heart Service and Adolph Basser Cardiac Institute
• Ms Gillian Blue - Genetic Counsellor
• Ms Jody Middlemiss - Coordinator, Kids Heart Research
• A/Prof Gary Sholler - Clinical Researcher and Director, Adolph Basser Cardiac Institute.

Grants and Other Financial Assistance

Peer Reviewed

• National Health and Medical Research Council (NHMRC) Grant - The role of aquaporins in cardiac ischaemia and reperfusion. Years of funding: 2006 to 2008.
• National Heart Foundation Career Development Award (NHF CDA) - An investigation of the role of aquaporins and genetic causes of congenital heart disease. Years of funding: 2006 to 2010.

Non Peer Reviewed

• Adolph Basser Cardiac Institute, The Children's Hospital at Westmead
• Establishment Grant, The Children's Hospital at Westmead
• Sydney Heart Valve Bank

Previous Support

• NSW Muscular Dystrophy Association (NSW MDA)
• Heart Kids NSW

Recent Publications

2007

Dimmick S, Walker K, Badawi N, Halliday R, Cooper SG, Nicholson IA, Sherwood M, Chard RB, Hawker RB, Lau KC, Jones O, Grant PW, Sholler GF, Winlaw DS. Outcomes following surgery for congenital heart disease in low-birthweight infants. Journal of Paediatrics and Child Health. 43(5): 370-375.

Blue GM, Mah JM, Cole AD, Lal V, Wilson M J, Chard RB, Sholler GF, Hawker RE, Sherwood MC, Winlaw DS. The negative impact of Alagille syndrome on survival of infants with pulmonary atresia. Journal of Thoracic and Cardiovascular Surgery. 133(4): 1094-96.

2006

Walker K, Holland AJA, Winlaw DS, Sherwood M, Badawi N. Annotation. Neurodevelopmental outcomes and surgery in neonates. Journal of Paediatrics and Child Health. 42(12): 749-51.

Egan JR, Butler TL, Au CG, Tan YM, North KN, Winlaw DS. Myocardial water handling and the role of aquaporins. Biochim Biophys ACTA - Biomembranes. Aug; 1758(8): 1043-52.

Butler TL, Au CG, Yang B, Egan JR, Tan YM, Hardeman ES, North KN, Verkman AS, Winlaw DS. Cardiac Aquaporin Expression in Human, Rat and Mouse. American Journal of Physiology - Heart and Circulatory Physiology Aug 291(2); H705-13.

Egan JR, Clarke AJ, Williams S, Cole AD, Ayer J, Jacobe S, Chard RB, Winlaw DS. Levosimendan for low cardiac output: a pediatric experience. Journal of Intensive Care Medicine. 2006 May-Jun;21(3):183-7.

Winlaw DS, Yoshizumi K. Total anomalous pulmonary venous drainage in 'Frequently asked questions - Cardiac Surgery'. Ed Langley SM, Ohri SK. Oxford University Press, Oxford.

2005

Egan JR, Festa M, Cole AD, Nunn GR, Gillis J, Winlaw DS. Clinical assessment of cardiac performance in infants and children following cardiac surgery. Intensive Care Medicine 2005; 31(4): 568-573.

Winlaw DS, McGuirk SP, Balmer C, Langley SM, Griselli M, Stumper O, De Giovanni JV, Wright JG, Thorne S, Barron DJ, Brawn WJ. Intention-to-treat analysis of pulmonary artery banding in conditions with a morphological right ventricle in the systemic circulation with a view to anatomic biventricular repair. Circulation 2005; 111: 405-411.

Winlaw DS, Sholler GF, Harvey RP. Progress and challenges in the genetics of congenital heart disease. Medical Journal of Australia 2005; 182: 100-101.

2004

Au CG, Cooper ST, Lo HP, Compton AG, Yang N, Wintour EM, North KN, Winlaw DS. Expression of Aquaporin 1 in human heart and skeletal muscle. Journal of Molecular and Cellular Cardiology 2004; 36: 655-662.

Clarke AJB, Kasahara S, Andrews DR, Cooper SG, Nicholson IA, Chard RB, Nunn GR, Winlaw DS. Midterm results for double inlet left ventricle and similar morphologies – timing of Damus-Kaye-Stansel. Annals of Thoracic Surgery 2004; 78: 650-657.

Griselli M, McGuirk SP, Winlaw DS, Stumper O, de Giovanni JV, Miller P, Dhillon R, Wright JG, Barron DJ, Brawn WJ. The influence of pulmonary artery morphology on results of surgery for major aorto-pulmonary collateral arteries and complex congenital heart defects. Journal of Thoracic and Cardiovascular Surgery 2004; 127: 251-258.

Murphy DN, Winlaw DS, Cooper SG, Nunn GN. Successful early surgical recruitment of the congenitally disconnected pulmonary artery. Annals of Thoracic Surgery 2004; 77: 29-35.

Related Links

Clinical Unit

Our CHW Research Colleagues

Our Principal Collaborators

Regional Collaborations

Supporting Kids Heart Research

If you would like to support Kids Heart Research and contribute to the development of important clinical research being undertaken to benefit future generations of families affected by heart disease, please send a cheque / money order to:

Kids Heart Research
The Children's Hospital at Westmead
Locked Bag 4001
Westmead NSW 2145

* Donations of $2 and over are tax-deductible and we will send you a receipt for this purpose.