Research Progress in Pathogenesis of Total Anomalous Pulmonary Venous Connection

Congenital heart defect (CHD) is one of the most common birth defects and the leading course of infant mortality. Total anomalous pulmonary venous connection (TAPVC) is a rare type of cyanotic which accounting for approximately 1-3% of congenital heart disease cases. Based on where the anomalous veins drain, TAPVC can be divided into four subtypes: supracardiac, cardiac, infracardiac, and mixed. In TAPVC, all pulmonary veins fail to link to the left atrium correctly but make abnormal connections to the right atrium or systemic venous system. The mortality of TAPVC patients without proper intervention is nearly 80% in the first year of life and 50% of them died within 3 months after birth. However, the pathogenesis and mechanism of TAPVC remains elusive. In this chapter, we systematically review the epidemiology, anatomy, and pathophysiology of TAPVC and give an overview of the research progress of TAPVC pathogenesis.