A North-South Partnership in Congenital Heart Disease (CHD)

点击翻译按钮获取中文摘要

Congenital heart disease (CHD) is the commonest birth malformation, affecting nearly 1% of liveborn children. It is also a major cause of miscarriage. In Western countries, the availability of open-heart surgery to correct even severe heart malformations has transformed the outlook for CHD patients. In the 1950s, only around 10% of children with a serious heart malformation lived to adulthood; the rate now is over 90%. By contrast, African countries face enormous challenges in managing children and adults with CHD, related both to lack of resources and lack of an African specific evidence base. Almost all research carried out into the causes, treatment and outcomes of CHD has been done in Western countries. We do not even know for certain such basic information as whether the rate at which CHD occurs is the same in African populations as it is in Western populations, and whether the range of CHD conditions encountered is similar. There may be particular risk factors for the development of CHD in certain African environments that, if they were known about, could be modified to reduce the risk of CHD occurring - but there is little or no African based research thus far into factors that may cause CHD. Regarding treatment, open heart surgery is not readily available in any African country, and there is limited resource to select the patients most likely to benefit from an operation, maximise their fitness for a procedure, and follow up complex cases following surgery. This results in major gaps in knowledge regarding how best to provide optimal outcomes for African CHD populations, within severe resource constraints that are unlikely to change rapidly. This foundation project will establish a sustainable CHD research infrastructure at the University of Cape Town, South Africa, the leading educational institution on the African continent; and create a model that could be applied in other South African centres and collaborating African countries. We will invite adult and child patients who attend the CHD units in Cape Town, which are among the largest in South Africa, to participate in the project. We will establish a comprehensive database containing clinical information about the patients and their families, and we will request samples of blood or saliva to enable us to investigate the role of inherited factors (genes) in causing CHD. We aim to enrol at least 1200 patients in the two year period of the grant. The UK partner group at The University of Manchester is among the world leaders in studying the role of genes in CHD, so we will test in this African population the importance of genes we have already shown to be important in Western populations, as our first experiment. If the foundation project shows that it is feasible to enrol and conduct genetic studies in African CHD patients, we will be very well placed to search for particularly African genetic causes of CHD in future experiments. We will also carry out studies modelling the abnormal blood flow that occurs in CHD patients using powerful computers, to see if we can identify patterns that are useful in predicting outcomes for patients.The patient database will also provide a unique resource for African researchers to address key questions about the causation of CHD beyond genetics; the rates at which particular heart malformations occur; and the outcomes for patients in an African context. We will request consent to keep in contact with all enrolled patients, which will enable us to study the effects of CHD throughout patients' lifecourse following the two-year Foundation Award. The resource will help African researchers to define the most important and feasible research topics for future study in the population they are serving. The research emerging from this registry will provide clear signposts on steps that can be taken to address the extremely different outcomes of CHD, which is now a highly treatable condition, between Western and African countries.