Kids Heart Research

The Heart Centre for Children, based at The Children's Hospital at Westmead, is the largest centre for childhood heart disease in NSW. It cares for more than 3500 babies, children and adolescents with congenital heart disease each year.

The clinicians who work at the Heart Centre have close links with research. Kids Heart Research questions are formed from the problems we experience at the coalface, and then solutions we find are taken immediately back to the wards to ensure that our patients receive the most innovative care possible.

Our research falls into four areas:

> Genetics Research: Understanding the genetic causes of congenital heart disease to improve management and treatment of patients

> Clinical Research: Clinical research projects to better understand, document and improve management of cardiac abnormalities in children

> Psychological Research: Innovative studies which aim to help children with heart disease and their families to live happy and fulfilling lives

> Cardiovascular Risk and Long Term Outcomes: Understanding the genetic and environmental factors that increase cardiovascular risk in children.

Kids Heart Research is led by Professor David Winlaw and more information can be found by visiting our Current Projects pages.

The Heart Centre for Children website also provides additional information on our clinical programs.

Current projects

Genetics Research Program:

  • Identifying genes involved in the development of congenital heart disease (CHD) using next generation sequencing
  • Developing targeted next generation sequencing tools in families with strong histories of CHD
  • Collaborating in large genome-wide association studies as well as smaller gene screening studies
  • Continuous recruitment of children with CHD and their families to the Kids Heart Research DNA Bank
  • Developing individualised genetic counselling sessions for families with CHD

Clinical Research Program:

  • Identifying key care needs in patients who underwent cardiac surgery at less than one years old
  • Understanding how prenatal diagnosis of heart disease in infants may influence their care
  • Examining the destiny of patients who begin care with a variety of complex ventricle abnormalities
  • Developing long term follow-up for neurodevelopmental outcomes in children after heart surgery
  • Engineering a custom-made valved conduit for patients with CHD

Psychological Research Program:

  • CHERISH: prospective study assessing infant outcomes following ante- or post-natal diagnosis of complex CHD
  • Feeding in Infancy: Heart Centre-based audit of feeding difficulties and support use in infants after cardiac surgery
  • Life after Fontan: National study of quality of life in children, young people and families after a Fontan circulation
  • Heartfelt study: Series of 53 in-depth interviews with mothers and fathers of an infant with complex CHD
  • Genetics-based studies: analysis of the needs of children and families affected by rare genetic conditions
  • Finding ways to help families find their way: developing clinical protocols for the care of bereaved families
  • Keeping Connected: determining unmet information and support needs to be addressed by web-based technologies
  • Caring for the Carers: compassion fatigue and identifying better ways of supporting cardiac care health professionals

Cardiovascular Risk and Long Term Outcomes:

  • Examining children with CHD and the inter-relationship with pre-existing cardiac abnormalities
  • A focus on better understanding cardiovascular risk in children

The research team

> Professor Jon Skinner, Head of Cardiology for the Sydney Children’s Hospital, Randwick and the Head, Kids Heart Research

Jon is a Senior Paediatric Cardiologist and Electrophysiologist at the Sydney Children’s Hospitals Network and a clinician-researcher with subspecialty skills and research interests in neonatal haemodynamics, arrhythmia and inherited cardiac conditions. Please visit the Heart Centre Research Team webpage for more information.

> Dr Nadine Kasparian, Head of Psychological Care and Research

Nadine is the Senior Psychologist at the Heart Centre for Children and an active researcher wanting to understand the needs and issues of children and families with chronic and life-threatening health conditions. More information about Nadine can be found on the Psychological Care and Research webpage and Nadine's University of New South Wales profile page.

> Other Research Team Members

  • Charlotte Verrall, Fontan Registry Coordinator, email:
  • Claudia Nielson-Jones, Research Officer, email:
  • Edith Salanga, Research Nurse, email:
  • Associate Professor Gary Sholler, Cardiac Services Director
  • Dr Julian Ayer, Heart Centre for Children Staff Specialist
  • Dr Gillian Blue, Genetics Counsellor and Researcher
  • Dr Michelle McElduff, Clinical Psychologist
  • Dr Bridget Callaghan, Research Officer
  • Dianne Swinsburg, Research Officer

Key publications

Blue GM, Kirk E, Giannoulatou E, Dunwoodie SL, Ho JWK, Hilton DC, White SM, Sholler G, Harvey RP, Winlaw D (2014) Targeted Next Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease. J Am Coll Cardiol 64: 2498-2506

Kasparian NA, Rutstein A, Sansom-Daly UM, Mireskandari S, Tyler J, Duffy J and Tucker KM (2014) Through the looking glass: An exploratory study of the lived experiences and unmet needs of families affected by Von Hippel-Lindau disease. European Journal of Human Genetics

Orr Y, Leclair K, Jacobe S, Badawi N, Nicholson IA, Chard RB, Sholler GF, Winlaw DS (2013) Early outcomes from a new regional programme for the surgical management of hypoplastic left heart syndrome. ANZ Journal of Surgery 19 [Epub]

Ingles J, Sarina T, Kasparian NA, Semsarian C (2013) Psychological well-being and post-traumatic stress associated with implantable cardioverter defibrillator therapy in young patients with genetic heart disease. International Journal of Cardiology 168(4):3779-3784

Alexander PM, Daubeney PE, Nugent AW, Lee KJ, Turner C, Colan SD, Robertson T, Davis AM, Ramsay J, Justo R, Sholler GF, King I, Weintraub RG (2013) Long-term outcomes of dilated cardiomyopathy diagnosed during childhood: results from a national population-based study of childhood cardiomyopathy. Circulation 128(18):2039-2046.

Iyengar AJ, Winlaw DS, Galati JC, Celermajer DS, Wheaton GR, Gentles TL, Grigg LE, Weintraub RG, Bullock A, Justo RN, d'Udekem Y (2013) Trends in Fontan surgery and risk factors for early adverse outcomes after Fontan surgery: The Australia and New Zealand Fontan Registry experience. Journal of Thoracic and Cardiovascular Surgery [Epub]

Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'Lock FA, Winlaw D, Bhattacharya S, et al. (2013) Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet 45(7):822-4.

Cordell HJ, Töpf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados Riveron J, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu'Lock FA, Thornborough C, O'Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw Det al. (2013) Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum Mol Genet 22(7):1473-81

Kasparian NA, Fidock B, Sholler GF, Camphausen C, Murphy D, Cooper S, Kaul R, Jones O, Winlaw DS, Kirk EP (2013) Parents’ perceptions of genetics services for congenital heart disease and the role of sociodemographic, clinical and psychological factors in determining service attendance. Genetics in Medicine

Skilton MR, Marks GB, Ayer JG, Garden FL, Garnett SP, Harmer JA, Leeder SR, Toelle BG, Webb K, Baur LA, Celermajer DS (2013) Weight gain in infancy and vascular risk factors in later childhood. Pediatrics 131(6):e1821-8