Congenital Ventricular Septal Defect Patients Gata4 Gene Mutation Research And After Transcatheter Closure Of Cardiac Structure And Function Follow-up Study

ObjectiveTo detect the gene mutation of Gene GATA4 in 20 patients with ventricularseptaldefect and study the molecular genetic character of this disease. MethodsGenomic DNA was extracted from peripheral blood of all the 20 patients diagnosed as ventricularseptaldefect and 17pairs of PCR primers were designed to amplify all the 7 exons of GATA4.DNA sequencing and analysis was followed.Resultstwo novel mutations,I255S in exon3 ,P334T in exon6 were identified , in tissue and blood GATA4 gene,one novel mutation in exon 7 of GATA4 were also identified. but no fuction shift. ConclusionThe above data identified novel mutations , tissue and blood GATA4 gene mutations are same,no somatic mosaics.Further bioinformatics will be analysised the function of the 7 exon'mutation. ObjectiveTo evaluate the treatment effect and recovering situation through observing the changes of cardiac structure ,function and Hemodynamics before and after ventricular septal defect occlusion by using transthoracic echocardiographyMethodsIn 38 patients with ventricular septal defect occlusion, transthoracic echocardiography was performed. By conventional methods,Left atrial diameter ( LAD ),left ventricular end-diastolic and end-systolic diameter (LVDd/LVSd),left Ventricular ejection fraction(LVEF),systolic peak flow velocity over left ventricular outflow tract (VLOVT) and diastolic peak velocity over mitral valve flow(E/A)were measured. Tissue doppler imaging on left ventricular wall were detected and peak systolic displacement (Ds),systolic peak velocity (Vs) were measured. Early diastolic peak velocity(E'),late diastolic peak velocity(A')over Mitral annulus and E'over A'ratio,Em over E'ratio were computed.ResultsEarly after transcatheter closure, LAD and LVDd were significantly reduced while VLOVT was increased obviously (P all <0.05). However,there was no significant difference with LVEF (p> 0.05). Compared with the preoperative, Ds and Vs were reduced significantly (P <0.05). Em/E ' was also lower than that before the operation, but no significant difference.1 year after occlusion, Em/E ' returned to normal from a high level, and the elevated VLOVT was back to the level before the operation (P all <0.05).ConclusionIn the early time after transcatheter closure , the patients'cardiac structure and Hemodynamics abnormalities which caused by the left ventricular volume overload can be corrected .And in the inter-mediate stage after closure,the impaired left ventricular diastolic function can be improved. Echocardiography play an important role in the evaluation of cardiac function before and after transcatheter closure.