Surgical Treatment And CNVs Analysis Of Pulmonary Atresia

Objectives:We analyzed the early outcomes of67patients with pulmonary atresia who received surgical treatment by retrospective study. In order to summarize the surgical indication,strategy and risk factors of pulmonary atresia,especially pulmonary atresia with ventricular septal defect.Methods:67patients were diagnosed as pulmonary atresia by cardiac color Doppler ultrasound,angiocardiography or64row CT cardiovascular angiography.All patients were indicated to surgical treatment,the data of hospitalization and follow-up were collected and analyzed retrospectively by statistical methods.Based on it,we assessed the risk factors and prognosis of surgical repair.Results:67cases had received surgical treatment from Jan,2005to Feb,2012in Xiangya Second Hospital,including6cases with PA-IVS and61cases with PA-VSD.There are5surgical deaths and2deaths during follow-up.4cases with PA-IVS had received palliative operation,and one died after surgery.2case with PA-IVS had undergone corrective surgery,and one died after surgery.25cases with PA-VSD had underwent palliative operation,including aorto-pulmonary shunt and right ventricle-pulmonary artery connection.The corrective surgery was performed in39cased with PA-VSD,3deaths occurred after surgery.2patients died during follow-up.The patients with PA-VSD who had received palliative operation underwent the significant relief of anoxia and the significant growth of pulmonary artery.In the patients with PA-VSD who received corrective repair,univariate analysis revealed CPB time and McGoon ratio were the risk factors of surgery,but multivariate analysis indicated CPB time was the only risk factor.Conculusions:The surgical mortality of pulmonary atrsia is unsatisfying.Palliative operation on PA-VSD showed the effects of reducing the anoxia and promoting the growth of pulmonary artery.CPB time is the risk factor of corrective operation on PA-VSD. Objectives:Studying the incidence of copy number variants in pulmonary atresia and its effects on molecular pathogenesis of congenital heart disease.Methods:Collecting the blood samples of62patients with pulmonary atresia referred to Xiangya Second Hospital from Jun,2007to Feb,2012.Using the blood samples,we performed chromosome G-banded karyotypes analysis and SNP array.Real-Time PCR was applied to confirm the results of SNP array.Results:Chromosome G-banded karyotypes analysis showed no aberration in all patients.Using SNP array,we identified7CNVs related with pulmonary atresia in10cases.22q11.21deletion was revealed in4cases.3p26.1-26.3deletion and10p15.1-15.3duplication were found in2cases(this two cases are twins).5q13.2deletion was revealed in1case.5q13.3-14.1duplication was revealed in1case.15q26.3duplication was revealed in1case.16p13.3deletion was revealed in1case. Real-Time PCR confirmed the results of SNP array.Conculusions:The incidence of CNVs in pulmonary atresia is16%.With the exception of22q11.21deletion,other6CNVs were first reported in congenital heart disease.Based on bioinfonnatics, KLF6,IGF1R,ABCA3,PKD1,SMNland SMN2genes are considered as the "candidate genes" of congenital heart disease.