Abstract
BACKGROUND: Advanced molecular mechanism research incorporated with multidisciplinary collaborations on congenital heart disease has prompted new insight into its cause, development, and outcomes. SUMMARY: This literature review aims to comprehensively examine the genetic molecular mechanisms of congenital heart disease and explain current prospects and challenges in this field. Through a systematic exploration of etiology, embryology, clinical outcomes, algorithms, and ethics, we seek to shed light on the path toward improved diagnostics, treatments, and outcomes for patients. KEY MESSAGE: Collaboration among genetic researchers, clinicians, data scientists, ethicists, and policymakers is crucial to address challenges and translate research findings into tangible benefits for CHD patients.