GATA6 transcription factor belongs to the GATA family and contains 2 conserved zinc ifnger DNA binding domains. GATA6 not only presents in embryonic tissues but also found in heart, lung and pancreas and is essential for the maintenance of their function.The present review focuses on the critical roles of GATA6 in heart development and atrial septal defect to provide theoretical basis for diagnosis and treatment of atrial septal defect.

ObjectiveTo identify mutations ofGATA4 andGATA6 genes in children with isolated congenital atrial septal defect (ASD).Methods From November 2012 to November 2013, 101 patients with ASD (99 unrelated patients and one twin) who were submitted to catheter-based intervention and 100 ethnicity-matched children without congenital heart disease, blood disorders and chromosomal abnormalities were enrolled. The blood was collected. The coding regions and lfanking regions of theGATA4 andGATA6 genes were ampliifed by polymerase chain reaction and sequenced using the dideoxvnucleotide chain termination technique, and then compared with the normal sequence in the Genbank.Results Two novel heterozygous missense GATA6mutations, c. G145A and c. G151A, were identiifed in 2 unrelated ASD patients, which were not present in the controls. These two mutations predicted the conversion of glycine into serine at amino acid residue 49 (G49S) and glutamate into lysine at amino acid residue 52 (K52E). A heterozygous missenseGATA6 mutation c.43 G>C, which caused a conversion from glycine to arginine, was found in 9 ASD patients and 7 controls. A single nucleotide polymorphism c.99G>T, which did not cause amino acid conversion inGATA4 gene, was found.ConclusionsGATA6 gene is an important transcription factor in heart development. The mutation ofGATA6 gene may cause the change of its transcriptional activity, and lead to ASD.

Objective: To evaluate the clinical effect and summarize the experience of radiofrequency catheter ablation (RFCA) for children suffered from premature ventricular contractions (PVCs). Methods: This retrospective study was conducted by descriptive analysis. A total of 108 cases with frequent PVCs from Shanghai Children's Medical Center were treated with RFCA under the guidance of CARTO3 system from January 2011 to December 2016. The immediate success rate of the procedure, the recurrence rate and the perioperative complications were summarized. The constituent ratio of different PVCs origins, the trend of overall procedure time and success rate in recent years were analyzed. Statistical analyses were performed using F test. Results: Immediate success of RFCA was achieved in 104 cases (96.3%, 104/108) and 4 cases (3.7%, 4/108) failed. The PVCs recurred during follow-up of over 6 months in 5 cases (4.8%, 5/104) . There were no severe complications related to the procedure. The sites of PVCs origin, in 52 cases originated from right ventricular outflow track (48.2%, 52/108) , 17 cases originated from left ventricular outflow track (15.7%, 17/108) and 26 cases originated from tricuspid annulus (24.1%, 26/108) . Among the three predilection sites of PVCs, the operation time was (141±46) min for right ventricular outflow track, (155±50) min for left ventricular outflow track, and (166±57) min for tricuspid annulus. However, the difference was not statistically significant (F=1.79, P=0.17) . X-ray exposure time was (14±8) minutes for right ventricular outflow track ablation, (32±14) minutes for left ventricular outflow track ablation and (16±8) minutes for tricuspid annulus ablation respectively. The exposure time for the ablation on left ventricle was significantly longer than the other two sites (F=5.12, P=0.018) . Conclusion RFCA is safe and effective for PVCs in children with high success rate and low recurrence and complication rates.