The prevalence of congenital heart disease is estimated to be about 0.8% and is the leading cause of non-infectious death in infancy. Cardiac development is a complex event regulated by a combination of multicellular, multigenic, and environmental factors, and any small disorder can lead to malformations in cardiac development. The causative genes of some congenital/inherited heart diseases are now relatively well studied and can be detected by high-throughput sequencing or gene chips. 1, the congenital heart disease and its causative genes are well studied at present GATA4, MYH6, TBX20, ACTC1, TLL1, NKX2-5 (NKX2.5); CITED2, GATA6; CRELD1, GJA1, GATA4, GATA6; Tetralogy of Fallot JAG1, NKX2-5; FBN1, FBN2 genes in Marfan’s syndrome; PRKAG2 genes in pre-excitation syndrome; 28 genes including TNNT2 in hypertrophic cardiomyopathy, 26 genes including TNNI3 in dilated cardiomyopathy, KCNQ1, SCN5A, KCNH2 genes in long Q-T syndrome. 2. Genes related to syndromic diseases with combined precardiac disease 2.1 DiGeorge syndrome and TBX1 gene DiGeorge syndrome is the most common chromosomal defect syndrome caused by deletion of chromosome 22q11. The disease involves multiple organs and cardiac malformations are mainly due to abnormal migration of the cardiac neural crest, including: aortic dissection, permanent arterial trunk (PTA), tetralogy of Fallot (TOF), double outlet of the right ventricle and transposition of the great arteries. The TBX1 gene in the chromosome 22q11 region is the main causative gene for cardiac malformations in this disease, and mutations in the TBX1 gene can also cause DiGeorge syndrome. 2.2 Holt-Oram syndrome and TBX5 gene Holt-Oram syndrome mainly presents with limb and heart malformations, so it is also known as heart-hand syndrome. Among them, cardiac malformations include atrial septal defect (ASD), TOF and AV block. The haploid TBX5 gene causes Holt-Oram syndrome, and the TBX5 mutation is the first single mutation found in humans in a septal defect malformation. clinical manifestations of Holt-Oram syndrome vary widely among individuals, with severe cardiac malformations with mild palmar abnormalities or vice versa. 2.3 Char syndrome and the TFAP2β gene Char syndrome also involves the hand and the heart, with the characteristic cardiac malformation of patent ductus arteriosus (PDA) with mild palmar anomalies, and mutations in the TFAP2β gene resulting in abnormal disruption of its PY (protein structural domain) structure, whose binding to DNA can cause Char syndrome. 2.4 Noonan syndrome and PTPN11 gene Noonan syndrome is also known as male Turner syndrome or female Turner-like syndrome. The PTPN11 gene is its main causative gene, and mutations in MEK1/2 (mitogen-activated protein kinase), K-RAS and B-RAF (oncogene encoding serine/threonine kinase) are present in CardioFacio-Cutaneous syndrome, which is clinically similar to Noonan syndrome; H -RAS mutations are found in Costello syndrome, which is clinically similar to Noonan syndrome.