Background: Theoretical studies have suggested that pedigree approach may be the most effective method for identifying quantitative trait loci underlying disease phenotype, and moreover, new methods available can compute linkage statistics efficiently and accurately in extended pedigree.Therefore, we expect to find new susceptible gene of congenital heart defects in a number of recognized pedigrees of congenital heart defects.First of all, we conduct the preliminary study of the collected 17 pedigrees.Method: Firstly, by browsing the medical records, we screen out the patients of congenital heart disease (CHD) who have family histories.Secondly, we get them contacted and recruit the probands and the other related family members to our study.Thirdly, after we obtain consent from adult subjects and from parents on behalf of their children, the phenotype of each member in the recruited pedigrees is confirmed by physical examination, medical history collection, electrocardiography, chest x-ray, echocardiography and abdominal ultrasonography.At last, their whole blood samples are collected, and genealogical trees are drawed by Cyrillic.Data of each family is kept in both sepatate paper document and electronic sample library system.Result: 1.The top three phenotypes in the probands and the other CHD patients are ventricular septal defect(VSD), atrial septal defect(ASD) and tetralogy of Follot(ToF).2.There are 8 pedigrees which the affected share the same phenotype-cardiac septal defect.3.We find among both fathers and mothers relatives of two affected family members, there are CHD sufferers.4.In one consanguineous marriage family, the children of the third generation present CHD: one suffers VSD, the other ToF.In another sib mating family, their three children all died: the first son died of multiple congenital malformations, the third son CHD.5.Two adults are first diagnosed as VSD and patent ductus arteriosus respectively.Conclusion: 1.According to our study, the more frequent types are quite consistent in familial and sporadic congenital heart diseases.2.The children whose both father and mother have CHD family histories are supposed to accept more risk factors and liable to suffer CHD.3.Consanguineous marriage increases the risk of CHD.4.The applying of echocardiography and other inspections are of great importance to identify phenotype and lay a solid foundation for subsequent genetic analysis.