Persistent Truncus Arteriosus
Overview
Plain-Language Overview
Persistent Truncus Arteriosus is a rare heart defect present at birth that affects the circulatory system. Normally, the heart has two separate arteries leaving it, but in this condition, a single large artery comes out of the heart instead of two. This causes oxygen-rich and oxygen-poor blood to mix, which can lead to low oxygen levels in the body. Babies with this condition often have symptoms like blue skin (cyanosis), difficulty breathing, and poor feeding. It affects how well the heart and lungs work together to supply oxygen to the body, which can cause serious health problems if untreated.
Clinical Definition
Persistent Truncus Arteriosus is a congenital cardiac malformation characterized by a single arterial trunk arising from the heart that supplies the systemic, pulmonary, and coronary circulations. This defect results from failure of the aorticopulmonary septum to develop properly during embryogenesis, leading to a common outflow tract instead of separate aorta and pulmonary artery. It is commonly associated with a large ventricular septal defect (VSD) beneath the truncal valve. The condition causes mixing of oxygenated and deoxygenated blood, leading to systemic hypoxemia and volume overload of the pulmonary circulation. Clinically, it presents with cyanosis, heart failure, and a loud systolic murmur in infancy. Early diagnosis and surgical repair are critical to prevent irreversible pulmonary vascular disease and improve survival.