Genetic Data Analysis Of Congenital Heart Disease High-risk Family In Guangxi Zhuang Region

Background:Congenital heart disease is defined as an abnormality in the cardio-circulatory structure or function, which is either present at birth or appears much later in life.CHD is the world newborn congenital defect and result in babies significant mortality of the most common types. Most of the abnormal cause deformity CHD are still unknown, but genetic factors are thought to play gradually important role. Most cases of CHD occur in a sporadic fashion and are of unknown cause. Diagnostic and therapeutic approaches are primarily based on anatomical and physiological considerations, with advances in pediatric cardiac care now allowing surgical repair in infants with even the most complex malformations, at a low mortality risk. These advances have resulted in a major shift in population demographics. Despite these successes, the lack of knowledge regarding the underlying etiology of CHD hinders our ability to predict or modify the disease course or to develop preventive (primary prevention) or early interventional (secondary prevention) strategies. Epidemiological studies have suggested an increased recurrence risk for siblings and offspring of patients with CHD, with recent studies quantifying the population-attributable risk of familial CHD at2-A%.Along with the development of modern genetic analysis technology, is not limited to CHD genetic sequences or gene identification ability, but to achieve successful research needs to have three prepare knowledge or prerequisites:1. Rich reappearances case2. A genetics and fixed frame3. Sound study design. So by the genetic analysis to find the cause of CHD technology as experimental research and clinical treatment CHD direction.But the domestic CHD presents of high-risk present familiy cases and blood samples is less at present,can’t reach CHD target of gene screening test, so now the task is to collect a lot of high-risk present familiy cases and establish blood specimens library for for the next step of CHD gene screening.Objective:To Collect first certificate and their families blood specimen for establishing the blood specimens library. To screen out the families with high risk of congenital heart disease (CHD) in Guangxi Zhuang region, and then to investigate the hereditary mode CHD. To provid foundation for CHD genetic research.Methods:The information of families that were with more than one CHD patient were collected, then drew the maps of pedigree, checked the CHD probands as well as the first and second degree of the family members, filled in the forms of questionnaire, and analyzed the heredity of CHD.Results:Information from140CHD patients and49families with high risk of CHD were collected From October2009to November2011. There are13kinds of CHD type with The traditional classification in the high-risk families, contain VSD、ASD、TOF AVSD, et al.The prevalence of CHD among the first-and second-degree members in the high-risk families was6.29%(71/779). The prevalence of CHD among the first-degree family members was20.60%(41/199), among the second-degree was5.00%(30/580), and the difference between these two groups was statistically significant (X2=42.59, P<0.001).There are19cases of fathers to drink and smoke in high-risk family.There are19cases of mathers to use drug in high-risk family.There are5cases typical cases in high-risk family,including the most numbers of CHD familiy,ASD、 VSD、AVSD exist in the familiy,CHD patients exsit in the first-and second-degree members,CHD related with gender,only AVSD exists in the family.The cases of the outside heart malformation are2in140case,but not belong to high-risk family.Conclusion:The prevalence of CHD in Guangxi Zhuang region shows the pattern of familial aggregation. CHD incidence among the members in high-risk family is related to the kinship to proband, i.e. the closer relation the higher CHD incidence. Genetics analysis shows that CHD Belong to more genetic.The top kind of CHD is VSD in high-risk familiy.Environment also is an important factor of CHD occurred, such as the use of medicine in progestation and second-trimester, parents of smoking and drinking, et al.The concurrence of CHD and other deformity is possibility.