Objective To summarize the experience of open heart operation on neonates with critical and complex congenital heart diseases and evaluate the methods of perioperative management. Methods From May 2001 to January 2003, 12 patients of neonates with congenital heart diseases underwent emergency operation. Their operating ages ranged from 6 to 30 days, the body weights were 2.8 to 4.5 kg. Their diagnoses included D-transposition of the great arteries in 4 cases, ventricular septal defect with atrial septal defect in 5 cases, complete atrioventricular septal defect, obstructed supracardiac total anomalous pulmonary venous drainage and cardiac rhabdomyomas in 1 case respectively. 12 cases were operated under moderate or deep hypothermic cardiopulmonary bypass. Results All cases were observed in ICU for 2-11 days and discharged 7-19 days after operation. The postoperative complications included low cardiac output, mediastinal infection, respiratory distress syndrome, systemic capillary leak syndrome and acute renal failure. All cases were cured and the follow-up (from 6 months to 2 years) showed satisfactory outcome. Conclusion A particular cardiopulmonary bypass and proper perioperative management is very important to ensure the successful outcome. Peritoneal dialysis is an effective and safe method for treating acute renal failure after cardiac operation in neonates.
目的 探討≤10 kg體重嬰幼兒心臟直視術后呼吸機使用時間的相關因素。 方法 從2005年3月－2011年6月，選擇納入接受心臟直視手術的體重≤10 kg的先天性心臟病嬰幼兒，分析各項圍術期指標與術后呼吸機使用時間的關系，討論該類嬰幼兒術后呼吸機使用時間決策。 結果 共納入體重≤10 kg的嬰幼兒42例，呼吸機使用時間（42.74 ± 52.55） h，中位數20.88 h;發現術后2 h入量（mL/kg），術后4、8、16 h總入量（mL/kg）與術后呼吸機使用時間相關（P＜0.05），術后呼吸機使用時間與患兒ICU入住時間約成線性相關（P＜0.05）。 結論 影響低體重嬰幼兒心臟直視術后呼吸機使用時間是術后液體管理，實施“限制性液體管理”治療策略可能會促進患兒的術后快速康復。術后液體管理如何具體影響患兒呼吸機使用時間，影響患兒的預后，尚需進一步研究。Objective To evaluate the factors related to the postoperative mechanical ventilation (MV) duration in low-weight infants weighing less than 10 kg having undergone open cardiac surgery. Methods From March 2005 to June 2011, infants less than 10 kg undergoing congenital cardiac surgery were included in this research. We analyzed the relationship between various peri-operative indexes and the duration of MV, and discussed the decision for ventilation time for these infant patients. Results A total of 42 infants were included in our study. The ventilation time was (42.74 ±52.55) hours with a median of 20.88 hours. The postoperative second-hour fluid intake and the total intake of fluid at hour 4, 8, and 16 were related to the duration of mechanical ventilation (P＜0.05). And the ventilation time had a linear relationship with the ICU-stay time (P＜0.05). Conclusions The postoperative fluid management is associated with the duration of mechanical ventilation for low-weight infants having undergone open cardiac surgery. “Fluid controlling management” may facilitate quick recovery of the infant patients. However, as for how the fluid should be managed, how the fluid management influences ventilation time and the prognosis, more research is needed.
Abstracts： Objective To summarize clinical experience and surgical outcomes of congenital coronary arterial fistula （CAF）. Methods We retrospectively analyzed clinical records of 12 patients （6 males, 6 females）, aged from 4 to 77 （50.90±23.8） years, who underwent surgical repair of CAF in Nanjing First Hospital between February 2005 and June 2011. There were 3 CAF patients associated with coronary artery aneurysms, one with patent foramen ovale and 2 with coronary artery disease （CAD）. One CAD patient had concomitant severe aortic valve stenosis. One patient underwent surgical repair without cardiopulmonary bypass （CPB） and 11 patients underwent surgery under CPB, among whom 3 patients underwent surgery with beating heart. One patient underwent concomitant aortic valve replacement and coronary artery bypass grafting.?Results?All the patients recovered uneventfully. Operation time was 151.25±42.65 min （ranging from 90 to 245 min）, cardiopulmonary bypass time was 65.06±29.16 min （ranging from 31 to 116 min）, mean aortic cross-clamping time was 43.00±33.41 min （ranging from 18 to 97 min） and postoperative hospital stay was 12.50±1.45 d （ranging from 10 to 15 d）. There was no early or late death. All the patients were followed up from 4 months to 6 years and no patient had symptom recurrence, myocardial ischemia or residual fistula during the follow-up. Conclusions All CAF patients should be surgically treated once diagnosis are made with satisfactory surgical outcome.
ObjectiveTo observe the mutation and expression of Nkx2.5 in congenital heart disease patients with diminutive pulmonary blood. We preliminarily explored the association between Nkx2.5 gene and pathogenesis of congenital heart disease patients with diminutive pulmonary blood.
MethodsFifty six patients of congenital heart disease with diminutive pulmonary blood in the first affiliated hospital of Bengbu medical college and Anhui province children, s hospital between May 2012 and May 2014 were as an experimental group. Sixty three patients of ventricular septal defect were as a control group. In the trial group, there were 30 males and 26 females averagely aged 5.82± 4.23 years ranking from 6 months to 14 years. In the control group, there were 36 males and 27 females averagely aged 6.93± 4.56 years ranking from 6 months to 14 years. Before operation, peripheral venous blood of all the patients were collected. We used polymerase chain reaction combined with DNA sequencing technology to detect Nkx2.5 gene exon sequence and to analyze the association between Nkx2.5 gene mutation and congenital heart disease with diminutive pulmonary blood. And we got some hypertrophic myocardial tissue from right ventricular outflow tract in the operation, whose size was 0.5× 0.5× 0.5 cubic centimeter. And we extracted myocardial tissue RNA. The expression changes of Nkx2.5 gene mRNA were detected by real-time fluorescence quantitative polymerase chain reaction technique.
ResultsThere was no mutations tested out in the peripheral venous blood in both two groups. The expression of mRNA in Nkx2.5 gene of the trial group was lower than that in the control group with a statistical difference.
ConclusionNkx2.5 gene mutation may be associated with multiple factors. The occurrence of congenital heart disease with diminutive pulmonary blood may be related with a decline of Nkx2.5 gene expression in the myocardial tissue.
ObjectiveTo identify the pathogenic gene mutations in a family with Leber congenital amaurosis (LCA).MethodsIn October 2018, 1 patient and 3 normal family members from a LCA family was enrolled in this retrospective study. Detailed medical history of proband was obtained and fixation test, cycloplegic refraction, slit-lamp, fundus color photography and full-field ERG were performed. And other family members underwent BCVA, refraction slit-lamp, fundus biomicroscopy with the slit lamp, fundus color photography and full-field ERG. The family was investigated with a specific hereditary eye disease enrichment panel which contained 441 known pathogenic genes and based on targeted exome capture technology first to indentify the potential pathogenic genes and mutations. Then the potential pathogenic mutations were conformed by Sanger sequencing. Finally, the results were analyzed via bioinformatics analysis.ResultsThe proband showed no trace object from childhood, but had obvious photophobia and nystagmus. No positive changes were found in the anterior segment, vitreous and retina in both eyes. Both cone and rod system function decreased significantly in full-field ERG in both eyes. Gene tests showed the proband carried both RPGRIP1 c.1635dupA and c.3565C＞T, which composited a heterozygous mutation. Bioinformatics analysis showed RPGRIP1 c.1635dupA was a pathogenic mutation, and RPGRIP1 c.3565C＞T which was a novel potential pathogenic mutation in LCA.ConclusionThe compound heterozygous mutation, c.1635dupA and c.3565C＞T in RPGRIP1 may be responsible for the pathogenesis in this Chinese Han LCA pedigree.
