[HTML][HTML] PROTEA, a Southern African multicenter congenital heart disease registry and biorepository: rationale, design, and initial results

T Aldersley, J Lawrenson, P Human… - Frontiers in …, 2021 - frontiersin.org
Objectives: The PartneRships in cOngeniTal hEart disease (PROTEA) project aims to
establish a densely phenotyped and genotyped Congenital Heart Disease (CHD) cohort for …

Investigation of copy number variation in South African patients with congenital heart defects

NA Saacks, J Eales, TF Spracklen… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Congenital heart disease (CHD) is a leading non-infectious cause of pediatric
morbidity and mortality worldwide. Although the etiology of CHD is poorly understood …

The genetics of congenital heart disease: The role of advanced genomic approaches

NA Saacks, TF Spracklen, JM Eales, G Shaboodien… - SA Heart, 2021 - journals.co.za
HIV-associated cardiomyopathy (HIVAC) is a poorly understood group of diseases with a
poor prognosis once ventricular dysfunction is present. Cardiovascular magnetic resonance …

BS26 The partnerships in congenital heart disease in africa study (PROTEA): clinical characteristics and genetic findings from a South African congenital heart …

T Spracklen, T Aldersley, N Saacks, B De Koning… - 2021 - heart.bmj.com
Introduction Congenital heart disease (CHD) is the most common birth defect and a
significant cause of paediatric morbidity and mortality worldwide. Epidemiological data from …