Paving the Way for Better Care: A Pilot Study on the Genetics of Congenital Heart Disease in South Africa

Congenital heart disease (CHD) refers to structural abnormalities of the heart and major vessels present at birth. It is the most common birth defect worldwide, affecting roughly 1 in 100 newborns [1]. CHD encompasses a spectrum of malformations, ranging from mild septal defects to complex abnormalities requiring multiple surgeries. These defects can significantly impact a child's health and well-being, often necessitating lifelong medical management. Despite advancements in diagnosis and treatment, CHD remains a leading cause of infant mortality, particularly in low- and middle-income countries (LMICs) like South Africa. The World Health Organization (WHO) estimates that CHD contributes to nearly one million childhood deaths annually, with a disproportionate burden borne by LMICs [2].