Related Experiment Video
Updated: Oct 14, 2025
Generation of Comprehensive Thoracic Oncology Database - Tool for Translational Research
Published on: January 22, 2011
PROTEA, A Southern African Multicenter Congenital Heart Disease Registry and Biorepository: Rationale, Design, and
Thomas Aldersley1, John Lawrenson1,2, Paul Human3
1Division of Paediatric Cardiology, Department of Paediatrics and Child Health, University of Cape Town, Cape Town, South Africa.
Insights
The PartneRships in cOngeniTal hEart disease (PROTEA) project established a congenital heart disease (CHD) cohort in South Africa. Findings suggest potential under-diagnosis of mild CHD and higher prevalence of severe types compared to global data.
Area of Science:
- Cardiology
- Genetics
- Epidemiology
- Public Health
Background:
- Congenital Heart Disease (CHD) is a significant global health concern.
- Limited data exists on CHD epidemiology and genetic determinants in southern Africa.
- The PartneRships in cOngeniTal hEart disease (PROTEA) project was initiated to address this gap.
Purpose of the Study:
- To establish a densely phenotyped and genotyped CHD cohort in southern Africa.
- To investigate the epidemiology and genetic factors contributing to CHD in the region.
- To characterize the initial PROTEA cohort and compare CHD subtype proportions with international data.
Main Methods:
- Prospective, multicenter CHD registry and biorepository (PROTEA project).
- Recruitment from seven hospitals in the Western Cape, South Africa (April 2017-March 2019).
- Inclusion of all patients with structural CHD; comparison of cohort-prevalences with global birth-prevalence studies.
Main Results:
- 1,473 participants enrolled; median age 1.9 years.
- Predominant subtypes: Ventricular Septal Defect (VSD) (20%), Atrial Septal Defect (ASD) (11%), Patent Ductus Arteriosus (11%), Atrioventricular Septal Defect (AVSD) (7%), Tetralogy of Fallot (7%).
- Lower cohort-prevalence of VSDs and ASDs; higher cohort-prevalence of AVSDs, pulmonary stenosis, and double outlet right ventricle compared to global estimates. Notably, low rates of maternal supplementation were observed.
Conclusions:
- Observed differences in CHD subtype cohort-prevalence may indicate under-diagnosis of milder forms and potentially different management or outcomes for severe forms in the region.
- These findings highlight the need for robust CHD epidemiological research in southern Africa.
- The PROTEA cohort provides a valuable resource for future research into CHD's genetic and environmental determinants in this population.
Abstract:
Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to establish a densely phenotyped and genotyped Congenital Heart Disease (CHD) cohort for southern Africa. This will facilitate research into the epidemiology and genetic determinants of CHD in the region. This paper introduces the PROTEA project, characterizes its initial cohort, from the Western Cape Province of South Africa, and compares the proportion or "cohort-prevalences" of CHD-subtypes with international findings. Methods: PROTEA is a prospective multicenter CHD registry and biorepository. The initial cohort was recruited from seven hospitals in the Western Cape Province of South Africa from 1 April 2017 to 31 March 2019. All patients with structural CHD were eligible for inclusion. Descriptive data for the preliminary cohort are presented. In addition, cohort-prevalences (i.e., the proportion of patients within the cohort with a specific CHD-subtype) of 26 CHD-subtypes in PROTEA's pediatric cohort were compared with the cohort-prevalences of CHD-subtypes in two global birth-prevalence studies. Results: The study enrolled 1,473 participants over 2 years, median age was 1.9 (IQR 0.4-7.1) years. Predominant subtypes included ventricular septal defect (VSD) (339, 20%), atrial septal defect (ASD) (174, 11%), patent ductus arteriosus (185, 11%), atrioventricular septal defect (AVSD) (124, 7%), and tetralogy of Fallot (121, 7%). VSDs were 1.8 (95% CI, 1.6-2.0) times and ASDs 1.4 (95% CI, 1.2-1.6) times more common in global prevalence estimates than in PROTEA's pediatric cohort. AVSDs were 2.1 (95% CI, 1.7-2.5) times more common in PROTEA and pulmonary stenosis and double outlet right ventricle were also significantly more common compared to global estimates. Median maternal age at delivery was 28 (IQR 23-34) years. Eighty-two percent (347/425) of mothers used no pre-conception supplementation and 42% (105/250) used no first trimester supplements. Conclusions: The cohort-prevalence of certain mild CHD subtypes is lower than for international estimates and the cohort-prevalence of certain severe subtypes is higher. PROTEA is not a prevalence study, and these inconsistencies are unlikely the result of true differences in prevalence. However, these findings may indicate under-diagnosis of mild to moderate CHD and differences in CHD management and outcomes. This reemphasizes the need for robust CHD epidemiological research in the region.
