The prevalence of congenital heart disease is estimated to be around 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. Some of the genes responsible for congenital/inherited heart diseases are well studied and can be detected by high-throughput sequencing or gene chips.1. The genes related to congenital heart diseases and their causative genes that are well studied are GATA4, MYH6, TBX20, ACTC1, TLL1, NKX2-5 (NKX2.5); ventricular septal defect-related genes CITED2, GATA6; CRELD1, GJA1, GATA4, GATA6; Tetralogy of Fallot JAG1, NKX2-5; Marfan’s syndrome FBN1, FBN2 genes; Preexcitation syndrome PRKAG2 gene; hypertrophic cardiomyopathy TNNT2 and other 28 genes, dilated cardiomyopathy TNNI3 and other 26 genes, long Q-T syndrome KCNQ1, SCN5A,KCNH2 genes.2. Genes associated with syndromic diseases with combined preexcitation 2.1 DiGeorge syndrome and TBX1 geneDiGeorge 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 geneHolt-Oram syndrome mainly presents with limb and heart malformations, and is therefore also known as heart-hand syndrome. Among these cardiac malformations are atrial septal defect (ASD), TOF and AV block. The haploid TBX5 gene causes Holt-Oram syndrome, and the TBX5 mutation is also 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 hand abnormalities or vice versa. 2.3Char syndrome and TFAP2β gene Char syndrome also 2.4 Noonan syndrome and PTPN11 geneNoonan syndrome is also known as male Turner syndrome or female Turner-like syndrome. 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.