By reporting a case of Holt-Oram syndrome, reviewing relevant literature, summarizing the etiology, clinical features and differentiation of the disease from other diseases. A 49-year-old male patient with this disease has developed wrist and radius deformities since childhood, combined with aortic regurgitation and aortic dissection. He was diagnosed with Holt-Oram syndrome. The disease is a rare autosomal dominant genetic disease, and the early diagnosis of heart defects is particularly important. Orthopedic orthopedic surgery is feasible for skeletal deformities when the heart can tolerate surgery.