Increasing understanding of congenital heart disease and research capacity building in Africa

Congenital heart disease (CHD) is a leading cause of childhood mortality and makes up one-third of all congenital birth defects globally. The prognosis for a child born with CHD in a low and lower-middle income country (LLMICs) is worse than in a high-income country. Manchester and Cape Town researchers are collaborating to address knowledge gaps about CHD in African populations while also building research capacity and expertise in the Cape Town region.

Reduced diagnostic capacity and limited access to healthcare can substantially impact the reported birth prevalence of CHD. These factors can also delay diagnosis and treatment, meaning patients are often not seen until CHD is at an advanced stage when treatment is harder and outcomes are less favourable. 

In 2019, our systematic review concluded that low prevalence rates of CHD in Africa did not provide a true picture of disease prevalence but, rather, were evidence of a severe unmet diagnostic need on the continent.

Professor Bernard Keavney

Bernard is a BHF Professor of Cardiovascular Medicine at The University of Manchester and Consultant Cardiologist at Manchester University NHS Foundation Trust.

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@KeavneyLab

Knowledge gaps about CHD in African populations

CHD research has traditionally focused on white, European populations. It is therefore essential to document whether CHD occurs at the same rate in African populations as in white European populations, and whether the range of CHD conditions encountered is similar.

There is also a need to evaluate genomic variations in the African population to discover CHD genes of importance to patients and families of African descent.

This is why researchers from The University of Manchester and the University of Cape Town are collaborating on a project called PROTEA (Partnerships in Congenital Heart Disease in Africa).

Developing diagnostic techniques for use in low-resource settings

We worked with colleagues from Red Cross War Memorial Children’s Hospital, Cape Town and used computational fluid dynamics (CFD) to develop a patient specific CFD pipeline that can be used in LLMICs.

CFD provides important diagnostic data by providing detailed insight into the forces acting on vessel walls due to blood flow. It can be used to assess potential procedures and the associated risk of complications. In high income countries, CFD is already used routinely, but often relies on high resolution magnetic resonance imaging (MRI).

Access to MRI is often limited or not possible in LLMICs. In our work, we used other existing technologies (CT scans and Doppler echocardiography), which are more clinically available in these areas, along with open-source software to develop a clinically feasible and repeatable CFD pipeline for use within resource- constrained environments.

Our pipeline is able to make use of cloud computing where computational resources are otherwise unavailable. If adopted, this pipeline will enable LLMICs to benefit from the patient-specific diagnostic information and insights which CFD provides. 

Reducing the knowledge gap

Through PROTEA, we have established a CHD Registry and Biorepository at Red Cross War Memorial Children’s Hospital, Cape Town.

By working with CHD volunteer families, we are investigating the genetic and molecular determinants of CHD in the region and are creating new knowledge about the genetics of CHD.

Training to build capacity

This work is also enabling the training of students and young scientists in South Africa in state-of-the-art genomic medicine and bioinformatics, delivering high-value skills to our African research partner and building capacity for CHD research in the area.

This is done by establishing expertise and a sustainable CHD research infrastructure at the University of Cape Town. The laboratory work is also all being done within South Africa to enhance local infrastructure. 

Improving electronic records

Many African health centres have limited means to capture and store patient records electronically. We built the PROTEA database which is both an electronic health record system and a clinical research electronic database, meaning it has value as both a clinical and research tool.

The database is now in use at Red Cross War Memorial Children’s Hospital in Cape Town, and the Nelson Mandela Children’s Hospital in Johannesburg, two of the major South African centres for the treatment of congenital heart disease.

Using the database improves the quality, detail and accessibility of clinical record-keeping which aids patient care planning. For example, patients who need to be fast tracked for procedures can easily be identified and contacted through information held in the database. 

The information is held securely and is also suitable for data mining, meaning it can be easily used to give greater insight into mortalities and morbidities and related opportunities for learning.

Database rollout to other African countries

The research database became operational in Namibia in early 2021 and is being used to facilitate research and clinical care at Windhoek Central Hospital. Plans are now in place to roll this out to two further African countries.