| Background:Congenital heart disease (CHD) is one of the common malformations in the cardiovascular system affecting 6‰~8‰of newborn babies in China. Recently incidence of CHD is ascends. Considering its severe impact on the physical and life and the heavy economic and psychological burdens to the family and the society and lowering the life quality of the whole population. The incidence and categories of CHD vary depending on different regions,countries and periods. With the economic development,environment pollution,improvement of people's lifestyle,and technical improvement of the ultrasound examination the category proportions of CHD might change. The occurrence of CHD are also attributing to environment. Where a combination of genes from both parents,in addition to unknown environmental factors,produce the trait or condition. This study aimed to investigate the growing trend of CHD cases in Guangxi province,the disease categories of CHD,and the age distribution,which will provide the scientific basis for CHD prevention and treatment and reference data for future surveillance and intervention research work. This analysis can also help to advocate the"healthy pregnancy and scientific nurture"education,promote prenatal diagnosis and postnatal physical examination and echocardiography,maximally reduce CHD incidence,and alleviate economic and psychological burdens. Make the foundation and early stage of gathering case to further study the gene mutation of local congenital heart disease. Classical studies have proposed the multifactorial inheritance hypothesis,genes interacting with environment factors,for the etiology of 90 percent of CHDs. An autosomal dominant mode of inheritance with reduced penetrance is likely for the familial CHDs when as nearly 90 percent of sporadic CHDs are caused by more than one alleles at a number of loci interacting with environmental factors. Then it is more important identify genetic causes of sporadic CHD.Gene targeting exeriments of transcription faction mice result in cardiac malformation,mutations in the gene encoding the transcription factor were found to cause sporadic human congenital heart disease. This is one of the reasons which we gathers case of CHD in Guangxi province. Objective: Congenital heart disease (CHD) is an inborn abnormality seriously harming infants'health. The morbidity is from 0.3% to l% in live births while up to 10.2 in abortus. About 80% percent of congenital heart diseases only manifest malformations in cardiovascular system without any abnormality of other systems,which is called simple congenital heart disease. As a complex disease,it is considered that congenital heart disease results from the abnormal development of the embryonic of CHD. The heritability of CHD is from the abnormal development of the embryonic cardiovascular system and the genetic factors play an important role in the pathogenesis of CHD. The heritability of CHD is from 55% to 65%,but it is not clear about the hereditary patterns and penetrance and little advances have been made in the researches on the susceptibility genetic interfere of CHD. Therefore,it is of great significance that the molecular genetic mechanisms of CHD should be discussed,which can provide the theorical bases for the genetic interfere of CHD,enrich the theory and practical application of human genomics and offer an useful method from which researches on other congenital malformations can draw lessons. Cardiac development is a complicated progress that involves not only spatial and temporal expression of many genes but also the migration , differentiation, proliferation of cells and accurate interaction between cells. This study analysis the role of genetic and environmental factors in the occurement of congenital heart disease to improve the probality of early detection,early diagnosis and early treatment of the disease through investigating the family history of congenital heart disease (CHD) in Guangxi for studying the Disease types and Predisposing factors of CHD families. Make the foundation to further study the gene mutation of local congenital heart disease. Methods: The materials were collected from the population survey in Guangxi about families with one patient or more than two or two patients (high-risk family), the first and second grade relatives were asked, questionnaires were filled in and map pedigrees for high-risk families were made. Results: Through investigating 28 high-risk families (the probands and their parents) and 89 nuclear families, there was high incidence of congenital heart disease between parents and children as well as between brothers and sisters, the CHD incidence of First-degree relatives was significantly higher than second-degree relatives, the former was, the latter was, incidence ratio the CHD incidence was different between the male and the female, the incidence of the female was slightly higher . Most patients were diagnosed in the year of 18 or 19 ; in the Classification of congenital heart disease ventricular septal defect accounted for, atrial septal defect accounted for, Fallot French accounted for, and the other accounted for. Mother's of menarche and pregnancy could affect CHD's incidence of children, at the same time children had higher CHD's incidence than normal if their mothers used drugs in 6 weeks before pregnancy or their fathers had the habits of drinking and smoking. Conclusions: The CHD family survey and anslysis shown that congenital heart disease has a certain genetic predisposition, it has the characteristics of family aggregation, The incidence rate of the relatives is related to the extent of the relation, The higher the extent of the relation to the proband, the higher the incidence rate. In addition,There is a certain relation between CHD's incidence and the nvironment of patients' life, genetic factors and environmental factors play an important role in the incidence of congenital heart disease . |
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