Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children / 中华心血管病杂志

<p><b>OBJECTIVE</b>To elucidate association between the mutation of nuclear factor of activated T cells 1 (NFATC1) gene in IPT-NFAT region and simple congenital heart disease (CHD) in children.</p><p><b>METHOD</b>We used polymerase chain reaction (PCR) and the sequencing reaction to detect the mutations on the patients and their parents and (or) siblings.</p><p><b>RESULTS</b>PCR amplification of the exon 7 region showed that 2 bands are obtained in 58% of patients with CHD and in 74% of their healthy parents and (or) siblings. Sequencing of the 2 bands revealed that both are amplicons of the exon 7 region, and that the additional band harbors an additional 44 nucleotides segment in the intronic region. The homozygous form of this allele was only present in patients with ventricular septal defect (2/24), atrial septal defect (3/18) and bicuspid aortic valve (1/4) in which G to A transition at nucleotide 17 of the third 44 bps was found. Neither the unrelated non-CHD individuals nor the ones with other CHD showed positive presence for the homozygous form of this allele.</p><p><b>CONCLUSIONS</b>There is a differential amplification of a tandem repeat region in intron 7 of NFATC1 and homozygous form of this allele in patients with ventricular septal defect, atrial septal defect and bicuspid aortic valve. NFATC1 gene may be an a susceptibility marker for ventricular septal defect, atrial septal defect and bicuspid aortic valve.</p>

Surgical treatment on residual shunt after repair of ventricular septal defect / 中华外科杂志

<p><b>OBJECTIVE</b>To summarize the experience in surgical treatment of residual shunt after repair of ventricular septal defect and investigate the position of the residual shunts.</p><p><b>METHODS</b>Between January 1979 and May 2003, re-operations on residual shunt after repair of ventricular septal defect were performed in 37 patients with congenital heart disease including ventricular septal defect, tetralogy of Fallot, double outlet right ventricle in 19, 17 and 1 patients, respectively. It accounted for 0.21% (37/18000) of open heart operations performed during these years. The patients included 26 males and 11 females with age from 3 months to 53 years (mean 16 +/- 12 years). The residual shunt was diagnosed by postoperative murmur and echocardiography. Twenty-six cases were repaired with patch and 11 cases were closed directly with mattresses sutures.</p><p><b>RESULTS</b>Two patients (2/37, 5%) died within 48 hrs postoperatively. The results in other 35 patients followed up after surgery from 3 months to 15 years were satisfactory.</p><p><b>CONCLUSIONS</b>Most of the residual shunts occurred in base of septal leaflet of tricuspid valve, the second and the first transfer suture respectively. Effects of reoperations on residual shunts were satisfactory.</p>