Fontan operation is still a main procedure for treatment of complex congenital heart disease, such as univentricular heart. Fontan procedure has undergone many revisions since its introduction in 1968. The earlyapplied atriumpulmonary connection has been replaced by total cavopulmonary connection. The midterm and late results of both the intraatrial lateral tunnel and extracardiac total cavopulmonary connections were compared and analyzed in this article. Extracardiac conduit is better. The Fontan circulation failure would appear at last because of nopump function of the right ventricle. Once Fontan circulation failure occurred and could not recover by medicine, heart transplantation is mandatory, but the source of donor heart is lacking. The study of mechanical cavopulmonary assist device, to “biventricularize” the univentricular Fontan circulation, has been developed, which is quite promising. Following the development of diagnostic and treatment techniques for fetal heart disease, the treatment procedure of complex congenital heart disease has been broadened in recent years, such as to prevent the severe aortic stenosis from developing into hypoplastic left heart syndrome with fetal cardiac intervention so as to increase the chance of biventricular repair, and to terminate gestation to decrease its birth rate of complex heart abnormalities, which could not be completely repaired to date.
Objective To evaluate the clinical outcomes of total cavopulmonary connection (TCPC) and bidirectional Glenn shunt for treating complex congenital heart diseases with single functional ventricles. Methods From January 2002 to May 2004, twelve children, who had complex congenital heart diseases with single functional ventricles, underwent TCPC and bidirectional Glenn shunt. Among them, male was 3 and female was 9. Ages were from 4 to 13 years and body weights were from 14 to 34 kilograms. The diseases included mitral atresia 1 case, tricuspid atresia 3 cases, right ectopic heart with transposition of great arteries 3 cases, D-transposition of great arteries 3 cases, and single ventricle 2 cases. Results Eleven children survived and one child died in acute renal failure 19 hours after operation. The hospital mortality was 8.3%. Four children had chyle-thorax postoperatively, and eight children had uneventful recovery. In the follow-up period, one child died 12 months postoperatively for pulmomary arteriovenous fistula, and there were no complications like severe arrhythmia, thrombosis and cerebral problems. Conclusions TCPC and bidirectional Glenn shunt are safe and effective techniques for treating complex congenital heart diseases with single functional ventricles, and the clinical outcomes are satisfactory. The key points for the successful operation are big enough cava-pulmonary anastomosis as well as aggressive perioperative management.
ObjectiveTo evaluate the long-term clinical effect and risk factors of tricuspid valve replacement (TVR) as a relief treatment for adult patients with congenitally corrected transposition of the great artery (CCTGA).Method We retrospectively analyzed the clinical data of 47 adult patients with CCTGA who underwent tricuspid valve replacement in Fuwai Hospital between 2000 and 2017 year. There were 27 males and 20 females with operation age of 14–62 (38.8±13.5) years. Preoperative echocardiography showed moderate or more tricuspid regurgitation in all patients. The basic data of patients before and during operation were recorded. Survival was followed up by telephone and ultrasound report.ResultsThe average follow-up time was 6.5±3.7 years. The 1-year, 5-year and 10-year survival rate or the incidence of heart transplant-free was 94.6%, 90.5% and 61.7%, respectively. During the follow-up period, the long-term right ventricular ejection fraction of most patients (>90%) was still greater than or equal to 40%. Increased preoperative right ventricular end diastolic diameter (RVEDD) was a risk factor for death or heart transplantation (risk ratio 1∶11, P=0.04). The survival rate of patients with RVEDD (>60 mm) before operation was significantly reduced (P=0.032).ConclusionTVP is a feasible treatment for adult patients with CCTGA. The increase of preoperative RVEDD is a risk factor for long-term mortality.
Objective To analyze the pathogenesy and mutation of X-linked juvenile retinoschisis (XLRS) 1 gene in XLRS families, and to provide the theory basis in directing gene diagnosis. Methods The mutation of XLRS1 gene code in two XLRS families were detected and screened by polymerase chain reaction (PCR) and DNA direct sequence determination. Results Pro193Ser mutation was detected in family 1. Conclusion Pro193Ser mutation could be found in XLRS families, which can be used for genetic consultation and prenatal gene diagnosis. (Chin J Ocul Fundus Dis，2004，20：149-151)
Objective To explore the feasibility and option of different surgeries for neonates with pulmonary atresia and ventricular septal defect (PA/VSD) through assessing the effect of common surgeries. Methods Fourteen neonates who underwent their first surgery in our center from July 2004 to October 2014 were included. Their basic characteristics, operation and pre- and postoperative clinical information were extracted. Follow up was conducted and the last visit was on October 10, 2016. Short- and midterm survival and total correction rate were compared among different surgeries. Results Among the 14 patients, there were 4 (28.6%) patients, 6 (42.9%) and 4 (28.6%) who underwent one-stage repair, right ventricular outflow tract (RVOT) reconstruction, and systemic to PA shunt operation respectively. The overall in-hospital mortality after the first operation was 28.6% (4/14). At last visit, no death occurred resulting the 5-year survival rate of 71.4% (10/14). The overall total correction rate for all neonates was 64.3% (9/14). Although no statistical difference was found in the mortality among the one-stage repair , RVOT reconstruction and systemic to PA shunt group(50.0% vs. 33.3% vs. 0.0%, P=0.280), the survival and hazard analysis implied better outcomes of the systemic to PA shunt palliation operation. There was no statistical difference in the total correction rate and months from the first palliative operation to correction between those who underwent RVOT reconstruction and systemic to PA shunt (75.0% vs. 50.0%, P=0.470; 32.0 months vs. 18.0 months, P=0.400). Conclusion Performing surgeries for neonates with PA/VSD is still a great challenge. However, the midterm survival rate was optimistic for the early survivors. Systematic to PA shunt seemed to be a better choice with lower mortality for the neonates with PA/VSD who need the surgery to survive.
ObjectiveTo investigate the anesthesia management of transcatheter ultrasound-guided percutaneous interventional therapy for pediatric patients with congenital heart disease at a mobile surgical platform. Methods From March to July 2023, 13 patients in remote areas underwent interventional surgery on the mobile truck operating platform. The patients undergoing general anesthesia using non-tracheal intubation were collected. ResultsFinally, 8 patients received monitored anesthesia care (MAC) with local anesthesia-assisted sedation and analgesia drugs under the supervision of anesthesiologists (general anesthesia using non-tracheal intubation), due to the patients having difficulty cooperating with the surgery (young age, nervous mood, and crying), including 5 males and 3 females with an average age of 6.95±3.29 years and an average weight of 19.50±6.04 kg. There were 6 patients diagnosed with atrial septal defect, 1 patient with residual shunt after patent ductus arteriosus ligation, and 1 patient with severe pulmonary stenosis by transthoracic ultrasonography. The surgical process was smooth, analgesia was perfect, anesthesia and surgical effect were satisfactory, postoperative recovery was satisfactory, and there were no surgical or anesthesia complications. The anesthesia time was 41.53±8.62 min, the operation time was 39.88±8.52 min, and the recovery time was 41.50±14.56 min. Conclusion Transthoracic ultrasound-guided interventional surgery is a minimally invasive approach for congenital heart disease, offering the advantages of zero radiation exposure. Non-tracheal general anesthesia preserved spontaneous breathing can be safely and effectively administered to pediatric patients who cannot cooperate in mobile operating platform.
ObjectiveTo analyze the outcomes of surgical repair for mixed total anomalous pulmonary venous connection (TAPVC).MethodsBetween 2006 and 2018, a total of 51 patients with mixed TAPVC underwent surgery in our hospital. Patients with such associated anomalies as single ventricle and tetralogy of Fallot were excluded. There were 35 males and 16 females with a median age of 102.0 (59.0, 181.0) days and a median weight of 5.0 (4.1, 6.4) kg. Patients were divided into three categories based on the anatomy: "3+1" pattern (n=38, three pulmonary veins drained at one site, and the other drained at the opposite site); "2+2" pattern (n=9, the pulmonary veins from each lung joined to form a confluence and drained at separate sites); bizarre pattern (n=4, the anatomy could not be classified into the above two patterns).ResultsThere was no in-hospital death. The median follow-up was 41.0 (18.0, 86.5) months. Postoperative pulmonary venous obstruction occurred in 10 patients. Kaplan-Meier survival curves showed no statistically significant difference in postoperative pulmonary venous obstruction among the three groups (P=0.239). Cox risk regression showed that preoperative pulmonary venous obstruction was significantly associated with postoperative pulmonary venous obstruction (P=0.024).ConclusionMixed TAPVC has various anatomic morphologies and requires individualized surgery.
Our country has made great progress in the surgical treatment of congenital heart disease, but after entering the new era, congenital cardiac surgery also presents some new features and trends. The quality of data of Guangdong congenital heart defects monitoring network was recognized by international organizations. We analyzed the data of the incidence of congenital heart disease, the rate of surgical treatment, the mortality of surgical procedures and the quality of surgical treatment in Guangdong province from Guangdong congenital heart defects monitoring network, and then accurately understood the development characteristics of congenital cardiac surgery. It is very helpful to clarify the regional status of congenital cardiac surgery, which is conducive to the development of a more reasonable surgical strategy for congenital heart disease, and finally promote the further development of congenital cardiac surgery in China.
ObjectiveTo investigate the clinical characteristics and surgical management of the familial exudative vitreoretinopathy (FEVR)-associated rhegmatogenous retinal detachment (RRD). MethodsRetrospective noncomparative case series. Thirty-three eye of 32 patients were diagnosed FEVR-associated RRD by Fluorescein fundus angiography. There were 26 males and 6 females. The male to female ratio is 4.3:1 with an average age of 19.35±8.83 years. The detection of best corrected visual acuity (BCVA), refraction status, fundus photograph and fluorescein fundus angiography(FFA)were underwent in all patients. FEVR was confirmedby FFA and positive family history. The BCVA, refraction status, morphology of retinal detachment, location, size and shape of retinal hole, presence and grade of proliferative vitreoretinopathy (PVR), and subretinal proliferation were recorded. ResultsAs for the refractive status, the scope of refraction was +2.0 D to-13.0 D andthe BCVA were range from light perception to 0.7. Atrophy holes which located at the temporal half were responsible for retinal detachment in all cases. Besides, horseshoe tears were noted in 6 eyes (18.18%), while macular tears were noted in 2 eyes of RRD (6.06%). The PVR greater than stage C2 was noticed in 10 eyes (30.30%), while subretinal proliferation was presented in 23 eyes (69.70%). ConclusionsMale predominance, juvenile onset and associated with moderate to high myopia are the main characteristics in FEVR-associated RRD. Atrophy holes at the temporal half and the subretinal proliferations were most commonly in FEVR-associated RRD. Detailed fuduns and FFA examination of the fellow eye should be undergone to avoid misdiagnosis.
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.