HeartKids Australia announced the 2012 recipients of the Research Grants-in-Aid program. HeartKids Australia would like to acknowledge Wilson HTM Foundation, as the Founding Partner of the program, along with Kiwanis Australia, HeartKids Queensland and The Heart Foundation as supporting partners.
The program supports research and research capacity building in congenital and acquired childhood heart disease. Six projects received funding in 2012. They are as follows:
Principal Investigator: Professor Chris Semsarian
Project: Getting to the Heart of Sudden Unexplained Death in Children
Institution: Centenary Institute, Sydney
Investigators: Prof C Semsarian, Dr Emily Tu, Ms Annie Evans
Sudden unexplained death in children is a devastating complication of a number of inherited heart diseases. We believe there may be underlying gene faults affecting the electrical system of the heart, which may lead to sudden death in children. Identifying a genetic cause of death in such cases will improve our knowledge of the causes of sudden death in children, including SIDS, and provide an opportunity to identify gene carriers early in life, thereby providing early opportunities for disease prevention and ultimately improving the quality of life of children affected by heart disease, and their families.
Principal Investigator: Professor Richard Harvey
iPS Cell Technology and the Molecular Basis of Hypoplastic Left Heart
Institution: Victor Chang Cardiac Research Institute
Investigators: Prof RP Harvey, A/Prof D Winlaw, Prof R Graham
This project is jointly funded with The Heart Foundation
Hypoplastic left heart (HLH) is a severe congenital heart defect which affects approximately 1-2 in 5000 live births and is the main cause of death in newborns with congenital heart diseases (CHD). The underlying cause is currently unknown, however it is hypothesized that it is the consequence of both structural and functional defects which arise during development. We hypothesize that these defects stem from both genetic and environmental influences, producing a disease with complicated underpinnings.
Human induced pluripotent stem cells (iPSC) offer cutting-edge technology allowing the creation of disease-specific and patient-specific pluripotent cells – cells that have the capability of developing into any tissue type of the body. iPSC can be manipulated in vitro to produce specific cells of interest – such as ventricular cardiomyocytes – without ethical concerns or the necessity for the collection of samples or tissues from affected organs such as the heart. iPSC therefore provide a platform for the analysis of the molecular mechanisms underlying this complex disease. We aim to use iPSC technology to understand the possible causes of HLH, specifically by the investigation of cardiac cell development, growth and function. This work would open doors to further molecular dissection of candidate genes that distinguish HLH hearts from normal, benefiting our understanding of human heart development.
Principal Investigator: Dr Suzanne Long
Project: Cardiac Rehabilitation for HeartKids who undergo Early Surgery
Investigators: Dr Suzanne Long, Dr Bev Eldridge, A/Prof Michael Cheung
This project is jointly funded with Kiwanis Australia
Heart kids have been shown to have delayed physical development after having early heart surgery. As a result, we would like to determine whether early developmental intervention can make a difference. This project has two distinct parts. Firstly, we will investigate whether targeted, timely physiotherapy interventions can have a positive impact on heart kids’ motor development. Participants in this study will have undergone heart surgery in the first month of life. Secondly, we will determine whether Heart kids who have early surgery have problems with physical skills at school-age. We will measure aspects of physical development, including balance, co-ordination, strength, range of movement, and endurance, as well as collect information about participation in physical activity. These heart kids were part of an earlier study at The Royal Children’s Hospital, Melbourne, which described motor development during infancy. This project has the potential to inform families and service providers of evidence-based interventions that improve outcomes for future HeartKids.
Principal Investigator: Prof Yves d’Udekem
Project: The Australian and New Zealand Fontan Registry
Institution: Royal Children’s Hospital Melbourne
Investigators: A/Prof Y d’Udekem, Dr R Weintraub, Dr L Grigg, A/Prof D Winlaw, Dr M Sherwood, A/Prof D Celermajer, Dr G Wheaton, Dr A Bullock, Dr R Justo, A/Prof T Gentles.
The Fontan is a lifesaving procedure for babies born with complex heart defects. It is performed around 4 years of age as the last of a series of operations. Its benefits may be short-lived. We have no idea of the outcomes of these patients beyond the second decade after the procedure.
We are building a Registry which will gather all health information of all patients of Australia and New Zealand who have undergone a Fontan operation. This will allow us to answer the question of the size of this population, their status, and their future need for donor organs.
It is promising to be the largest database of Fontan patients, but more importantly the only population-based one, which is the only way to give public health perspectives.
We are hoping to launch drug trials aiming at improving the longevity and the quality of life of the Fontan patients. We intend to follow these patients over many years.
Principal Investigator: Dr Jim Ramsay
Project: Pulse Oximetry screening for Congenital Heart Disease in Western Australia
Institution: Princess Margaret Hospital Perth
Investigators: Dr J Ramsay, Dr E Harris, Dr A Gill, Dr C Minutillo, Dr N Agarwal, Dr L Adams, Ms J Sharpe
About 8-10/1000 babies born have a congenital heart problem and 2-3/1000 may have a critical heart problem in the first week or two of life. Some babies with a major problem may not be detected by clinical examination or symptoms prior to discharge from hospital. This will be a pilot study to measure oxygen saturation levels in the hand and foot on newborn babies in a number of Perth Metropolitan Maternity Hospitals to screen for significant congenital heart disease. If critical heart disease is undetected in newborn babies before discharge from hospital this can cause significant problems or even mortality. This kind of screening has not been undertaken by any Paediatric Cardiology Service in Australia to date, although there have been a number of international studies indicating it may be useful. This initial pilot study is to evaluate the feasibility of setting up such a neonatal screening process in Western Australia in some of the larger Metropolitan Maternity Hospitals so that approx 50% of neonatal deliveries in Perth will be screened in the initial 12 months of the project. At the end of the twelve months pilot study the results will be evaluated to decide if this is something that should be continued and perhaps extended to the other Metropolitan Maternity Hospitals as an ongoing routine service. The implications this may have for extra resources required to provide such a screening service will be evaluated
Principal Investigator: Mr Marc Remond
Project: Sharing Success-Improving Secondary Prophylaxis for Rheumatic Fever in Indigenous Australian Children
Institution: James Cook University, Cairns Base Hospital, Cairns
This project is jointly funded with HeartKids Queensland
Rheumatic fever (RF) is an illness that can result from a “strep throat” infection. Usually the effects of RF are only temporary but in some cases it can lead to permanent damage to a person’s heart valves. This is known as rheumatic heart disease (RHD). If a person has repeat episodes of RF they are at higher risk of developing RHD, or having further damage to their heart valves if they already have RHD. So it is important to prevent “strep throat” infections in people who have previously had RF or who have RHD. This can be done by giving them regular injections of antibiotics. This treatment usually has to be given monthly and for a minimum of 10 years.
In Australia, RF and RHD are seen almost exclusively in Aboriginal and Torres Strait Islander children and young adults. Unfortunately, research has shown that many of these individuals do not get antibiotic injections as regularly as they need. This leaves them at risk of “strep throat” infections, further episodes of RF and increased damage to their hearts. “Sharing Success” aims to address this problem. It will involve a number of communities in the Cape York region where rates of RF and RHD are high. The project aims to identify what factors are positively or negatively affecting the delivery of antibiotic injections to children with RF or RHD. Based on this knowledge strategies will be developed to improve delivery of treatment which in turn will decrease mortality and improve the quality of life for children with RF or RHD.