Missense mutations in CSX/NKX_(2.5)are associated with atrial septal defects

Objective ：To study the gene mutations of homeobox transcription factor （CSX/NKX2.5） associated with a Chinese family with secundum atrial septal defect （ASD）. Methods ：Polymerase chain reaction and DNA sequencing were used to check all the members in the family with ASD, and single strand conformation polymorphism analysis （SSCP） was used to check 126 normal control people for detecting the mutations of CSX/NKX2.5 gene. Results： Three mutations, G270A（Glu32Lys ）, G378A （Glu68Lys）andG390A （Glu72Lys）were identified in CSX/NKX2.5 gene of ASD patients. However, the other members in the family with ASD and the control did not have such gene mutations. Conclusion：These mutations of CSX/NKX2.5 gene, which were identified in a Chinese family, may be one of the secundum ASD etiologic causes .

Outcomes of Three Different Minimal Invasive Approaches for Secundum Atrial Septal Defect Closure: A Single Institute Experience

Objective:The aims of this retrospective study were to investigate and evaluate the safety and efficacy of three approaches for closure of secundum atrial septal defect(ASD).Methods:In this study,we reviewed clinical data for transcatheter occlusion(TCO,n=63),transthoracic occlusion(TTO,n=55),and right anterolateral minithoracotomy(RALT,n=60)techniques used for ASD closure.We compared the safety and efficacy of the three approaches.Results:ASD size in the TTO group was similar to that in the RALT group(P=0.645)and significantly larger than that in the TCO group(P<O.OO1).The RALT group had more non-central types of ASD than the TTO and TCO groups(P=O.019 and P<O.OO1).The operative time in the TTO group was shorter than that in the TCO and RALT groups(P<O.OO1 and P<0.001).The ventilation time and intensive care unit duration were shorter in the TTO group than in the RALT group(P<O.OO1 and P<O.OO1).Hospital duration in the TCO group was shorter than that in the TTO and RALT groups(P<O.OO1 and P<O.OO1).There were no residual shunt and mortality in any group in hospital or during follow-up.There was no significant difference in the incidence of total complications among the three groups(P=0.738).Conclusion:TCO,TTO,and RALT can be performed with favorable cosmetic and clinical results for closing ASD.Appropriate patient selection is an important factor for successful closure.These techniques are promising alternatives to standard median sternotomy and merit additional study.