Heart valve malformations (HVMs) are congenital defects that affect the structure and function of heart valves. Advances in genetic research have identified several genetic mutations and pathways involved in these malformations. This review provides an updated overview of the genetic basis of HVMs, including recent discoveries, the role of specific genes, and the implications for diagnosis and treatment. Understanding the genetic underpinnings of HVMs is crucial for early diagnosis, personalized treatment, and genetic counseling.