Establishment and preliminary mechanism study of the zebrafish strain of KIAA0196: A candidate pathogenic gene for heart development / 中南大学学报(医学版)

To explore the effects of KIAA0196 gene on cardiac development and the establishment of zebrafish strain.
 Methods: Peripheral blood and gDNA from patients were extracted. Copy number variation analysis and target sequencing were conducted to screen candidate genes. The KIAA0196 knockout zebrafish was generated by CRISPR/Cas9 to detect whether KIAA0196 deficiency could affect cardiac development. Finally, the wild-type and mutant zebrafish were anatomized and histologically stained to observe the phenotype of heart defects.
 Results: The KIAA0196 knockout zebrafish strain was successfully constructed using CRISPR/Cas9 technology. After 60 hours fertilization, microscopic examination of KIAA0196 knockout zebrafish (heterozygote + homozygote) showed pericardial effusion, cardiac compression and severely curly tail. Compared with wild-type zebrafish, the hearts of mutant KIAA0196 zebrafish had cardiac defects including smaller atrium and larger ventricle, and the myocardial cells were looser.
 Conclusion: KIAA0196 gene plays an important regulatory role in the development of heart. It might be a candidate gene for congenital heart disease.

Echocardiography-guided percutaneous closure of patent ductus arteriosus without arterial access: Feasibility and safety for a new strategy / 中南大学学报(医学版)

Objective:To evaluate the feasibility and safety of device closure of patent ductus arteriosus (PDA)using only venous access under echocardiography guidance alone.Methods:A total of 102 consecutive pediatric patients underwent transcatheter PDA closure without arterial access,under the guidance of only echocardiography.The patients were followed up by clinical examination,electrocardiogram,and echocardiogram at 1,3,6 12,and 24 months.Results:Transvenous PDA closure under echocardiographic guidance was successful in 99 (97.1％)patients.There were no acute procedural complications or severe adverse events.The duration ranged from 10 to 65 minutes (median,21 minutes).Immediate complete closure of PDA was achieved in 87 patients (87.9％),and 100％ of the patients were completely closed after 24 h.There were no severe adverse events in the period of 1-24 months (median,12 months) follow up.Conclusion:Transvenous PDA closure without fluoroscopy avoids radiation exposure,contrast agent usage and potential arterial complications.It can be used as an alternative procedure,especially for children.

Clinical analysis of surgical treatment for aortic coarctation / 中国医师杂志

Objective To summarize the methods and experiences of one-stage repair of aortic coarctation.Methods During January 2009 and September 2016,31 patients underwent surgery for coarctation of aorta (COA) in our department.Of them,fifteen patients were accompanied by patent ductus arteriosus (PDA),five associated with ventricular septal defect (VSD),five with VSD and PDA,and six patients were single COA.All patients accepted one-stage repair and follow-up.The surgical strategies and follow-up results were retrospectively reviewed.Results Excision of coarctation and anastomoses was performed in 24 patients,a bypass with artificial graft was performed in 3 patients,longitudinally section transverse suture was performed in 2 patients,and aortoplasty with patch graft was used in 2 patients.Accompanied intracardiac malformations were repaired simutaneously.One patient died of low cardiac output syndrome 1 d after operation.Other patients recovered smoothly.Thirty patients were followed up from 6 months to 7 years.The anastomotic systolic pressure difference disappeared in 21 patients.Eight patients still suffered from systolic pressure difference (5-20 mmHg),but had no need of reoperation.One patient suffered from anastomotic recoarctation 2 years and 3 months after operation and the pressure difference was 48 mmHg.After exerting balloon dilatation,the pressure difference reduced to 17 mmHg.Conclusions Surgery is an effective method of COA treatment.The surgical strategies should be selected according to the characters of coarctation lesions,intracardiac malformations,and the age of patient.

Application of perimembranous ventricular septal defects closure solely by femoral vein approach under transesophageal echocardiography guidance / 中南大学学报(医学版)

Objective:To investigate the feasibility and safety of perimembranous ventricular septal defects (PmVSD) closure solely by femoral vein approach under transesophageal echocardiography (TEE) guidance.Methods:From January 1,2014 to May 31,2016,26 patients with PmVSD in Second Xiangya Hospital were selected,with age at 3.2-6.0 (4.3±0.7) years old and body weight at 15.0-19.5 (16.7±1.4) kg.The diameter of VSD was 3.5-4.8 (4.1±0.3) mm.All patients were treated by percutaneous PmVSD closure solely by femoral vein approach under TEE guidance.The effect of the procedure was evaluated by TEE and transthoracic echocardiography (TTE).The clinical follow-up study was conducted by TTE at 1,3,6 and 12 month (s) after the procedure.Results:Twenty cases were successfully treated with percutaneous PmVSD closure solely by femoral vein approach under TEE guidance,and the success rate was 76.9％.Six patients were converted to perventricular closure under TEE guidance because the guide wire in two cases or catheter in other cases could not pass through PmVSD.The diameter of symmetrical VSD occluder was 6.0-7.0 (6.2±0.4) mm.The procedural time was 12.0-64.0 (26.8±6.3) min.The residence time at ICU was 1.8-2.4 (26.8±6.3) h.The in-hospital time was 4.0-5.0 (4.4±0.5) d.There were 3 patients with immediate post-operative trivial residual shunt and incomplete right bundle branch block (IRBBB).All patients survived with no peripheral vascular injury or complications such as tricuspid regurgitation,pericardial tamponade and pulmonary infection.The residual shunt disappeared in 3 patients and IRBBB became normal rhythm in 3 patients at 1 month follow-up time point.No patients suffered from occluder malposition,residual shunt,pericardial effusion,arrhythmia (atrio-ventricular block),aortic valve regurgitation and tricuspid regurgitation.Conclusion:TEE-guided percutaneous PmVSD closureby femoral vein approach is safe and effective.

Clinical analysis of surgical treatment for aortic coarctation / 中国医师杂志

Objective To summarize the methods and experiences of one-stage repair of aortic coarctation.Methods During January 2009 and September 2016,31 patients underwent surgery for coarctation of aorta (COA) in our department.Of them,fifteen patients were accompanied by patent ductus arteriosus (PDA),five associated with ventricular septal defect (VSD),five with VSD and PDA,and six patients were single COA.All patients accepted one-stage repair and follow-up.The surgical strategies and follow-up results were retrospectively reviewed.Results Excision of coarctation and anastomoses was performed in 24 patients,a bypass with artificial graft was performed in 3 patients,longitudinally section transverse suture was performed in 2 patients,and aortoplasty with patch graft was used in 2 patients.Accompanied intracardiac malformations were repaired simutaneously.One patient died of low cardiac output syndrome 1 d after operation.Other patients recovered smoothly.Thirty patients were followed up from 6 months to 7 years.The anastomotic systolic pressure difference disappeared in 21 patients.Eight patients still suffered from systolic pressure difference (5-20 mmHg),but had no need of reoperation.One patient suffered from anastomotic recoarctation 2 years and 3 months after operation and the pressure difference was 48 mmHg.After exerting balloon dilatation,the pressure difference reduced to 17 mmHg.Conclusions Surgery is an effective method of COA treatment.The surgical strategies should be selected according to the characters of coarctation lesions,intracardiac malformations,and the age of patient.

Hybrid procedure for infants/children treatment with pulmonary stenosis under transesophageal echocardiographic guidance / 中南大学学报(医学版)

OBJECTIVE@#To investigate the outcomes of hybrid procedure in treating 10 infants/children with pulmonary stenosis under transesophageal echocardiographic guidance.
@*METHODS@#Between September, 2009 and December, 2015, 10 infants/children underwent hybrid procedure of transthoracic balloon pulmonary valvuloplasty for pulmonary stenosis in the Second Xiangya Hospital, Central South University. The age, height and weight at the time of admission were 0.7-42 (14.8±15.8) months, 53-97 (74.8±16.3) cm, and 4-15.5 (9.3±4.1) kg, respectively. Atrial septal defect, patent foramen ovale, patent ductus arteriosus, muscular ventricular septal defect, persistent left superior vena cava and tricuspid regurgitation were found in 2, 6, 1, 2, 1 and 5 cases, respectively.
@*RESULTS@#After the operation, all patients were sent into ICU. The mean duration mechanical ventilation, ICU stay and hospitalization were 0.5-41(6.8±12.3) h, 2-85 (31.1±22.8) h, and 6-20 (11.4±5.1) d, respectively. Postoperative transvalvular pressure gradient reduced to 16-45 (31.1±9.8) mmHg, which was decreased significantly compared with that in preoperative (P<0.001). There was no death during hospitalization and follow-up.
@*CONCLUSION@#Hybrid procedure of transthoracic balloon pulmonary valvuloplasty for pulmonary stenosis under transesophageal echocardiographic guidance is a safe and effective treatment.

Surgical repair of complete atrioventricular septal defect in 86 patients / 中国医师杂志

Objective To investigate the early surgical outcomes of 86 patients with complete atrioventricular septal defect.Methods Between January 2007 and December 2014,consecutive 86 cases received surgical repair in our department.There were 44 male patients,and 42 female patients.Two-patch repair was performed in 69 cases,and modified single-patch repair in 17 cases.The mean age,height,and weight at the time of operation were (32.3 ± 46.5)months with a range from 1 month to 17 years,(82.1 ±27.6) cm with a range from 53 to 165 cm,and (10.8 ± 8.7) kg with a range from 4.1 to 43 kg,respectively.Rastelli A type was found in 67 cases,B type in 15 cases,and C type in 4 cases.Down's syndrome was complicated in 6 cases.Preoperative mild regurgitation of common atrioventricular valve was shown in 32 cases,moderate regurgitation in 38 cases,and moderate to severe regurgitation in 16 cases.Mild pulmonary hypertension was observed in 15 cases,moderate in 54 cases,and severe in 17 cases.Results After operation,all patients were sent into intensive care units (ICU).The mean duration mechanical ventilation,ICU stay,and hospitalization were (30.9 ± 47.7) h with a range from 2.5 to 244 h,(87.7 ± 76.8) h with a range from 14 to 306 h,and (16.4 ±9.2)d with a a range from 6 to 50 d,respectively.We encountered 4 operatively mortalities (4.7％),including 3 in two-patch repair group,and 1 in modified single-patch repair group.The cause of death was mitral regurgitation.Conclusions Modified single-patch and two-patch technique have a satisfied early outcomes.

D-dimer levels of venous thrombosis in patients with the diagnosis of critical value of different ages / 中国医师杂志

Objective To compare plasma D-dimmer (D-D) levels of hospitalized patients and healthy controls,and to investigate D-D level changes in different age groups and receiver operating characteristic (ROC) curve analysis were used to analyze the clinical value of diagnosis of venous thromboembolism (VTE) by plasma D-dimer in different ages.Methods Totally 5798 healthy cases and 3756 cases of hospitalized patients were used for this study.Blood samples were collected and plasma D-dimer levels were analyzed.Results No significant difference was found in D-D level between the 50-year old hospitalized patients and healthy controls.D-D level of more than 50-year-old patient groups studied were significantly higher.D-D level was positively related to occurrence of VTE rate (r =0.9189,P ＜0.05).The sensitivity and specificity of D-D diagnosis of VTE in 50-year-old hospitalized patients were the highest,with the increase of age,the sensitivity and specificity of D-D diagnosis of VTE were decreased.Conclusions Plasma D-dimer levels were increased with age,The sensitivity of D-dimer was significantly decreased in the diagnosis of VTE of the elderly.The comprehensive indices should be used in the diagnosis of VTE.

Minimally invasive transthoracic device closure of an acquired sinus of valsalva-right ventricle fistula in a pediatric patient

Sinus of Valsalva-right ventricle fistula is a recognized but very rare complication after surgical repair of subaortic ventricular septal defect Surgical repair with cardiopulmonary bypass and percutaneous transcatheter closure guided by x-ray has been the traditional treatment for fistula of sinus of Valsalva. Recently, we have used a novel approach, that avoids the need for either secondary open surgical repair or radiation exposure; that is, minimally invasive transthoracic device closure guided by transesophageal echocardiography to occlude an acquired sinus of Valsalva-right ventricle fistula in a 4-year-old patient. To our knowledge, there have been no prior cases reported of this technique applied to close an acquired sinus of Valsalva-right ventricle fistula. This report aims to provide a detailed description of the procedure

Asymmetric occluder in minimal-invasive surgical device closure of ventricular septal defects / 中南大学学报(医学版)

OBJECTIVE@#To discuss the suitable types of ventricular septal defects for asymmetric occluders, and elucidate the critical role of echocardiography in choosing occluders, guiding successful occlusion and avoiding injury during operation.@*METHODS@#We retrospectively studied 179 patients with ventricular septal defects who received minimal-invasive surgical device closure with asymmetric occluder. We analyzed the types, size and morphology of ventricular septal defects suitable for asymmetric occluders. The therapeutic efficiency was evaluated by follow-ups.@*RESULTS@#Out of the 179 successful cases treated with asymmetric occluders, 86.59% had perimembranous ventricular septal defects, and double-committed sub-arterial ventricular septal defects accounted for 13.41%. In general, the size of occluders to be selected was the maximum diameter of the defects plus 2-3 mm. Follow-ups showed that occluders were placed and fixed properly. No severe residual shunt, valve regurgitation or heart block were discovered.@*CONCLUSION@#Application of asymmetric occluders expands the range of indications for occlusion via small chest incision. Accurate echocardiography helps to improve the safety and successful rate of the surgery.

Echocardiography in mini-invasive surgical device closure of secundum atrial septal defects / 中南大学学报(医学版)

OBJECTIVE@#To discuss the preoperative, intraoperative, and postoperative application of echocardiography in mini-invasive surgical device closure of secundum atrial septal defects, including those special and difficulty-occluded defects.@*METHODS@#We performed mini-invasive surgical device closure of secundum atrial septal defects on 287 patients. Before the surgery, transthoracic echocardiography was applied for screening; during the surgery we reassessed the sizes of the defects and their remaining margins, designated the suitable occluders, and guided the placement of the occluders by multiplane transesophageal echocardiography. The patients were postoperatively followed up at regular intervals by multiplane transesophageal echocardiography (MTEE) which was employed to assess the therapeutic efficacy.@*RESULTS@#Out of the 287 atrial septal defects, 276 (96.17%) were successfully closed. There were 37 porous defects and 23 cases with short posterior-inferior margin of defects. Follow-ups at intervals showed the occluders stayed firmly and echoed clearly. No notable residual shunt or valve regurgitation was observed.@*CONCLUSION@#Echocardiography plays a vital and reliable role in mini-invasive surgical device closure of secundum atrial septal defects, especially those special and difficulty-occluded defects.

Impact of Down syndrome on the surgical treatment of congenital heart defects / 中南大学学报(医学版)

OBJECTIVE@#To evaluate the impact of Down syndrome (DS) on surgical management in patients with congenital heart defects (CHD).@*METHODS@#We retrospectively analyzed the clinical data from 35 children with DS and CHD, who underwent cardiac surgery between 2004 and 2009. The data on surgical mortality, complications and follow-up results are emphasized.@*RESULTS@#All of the patients underwent primary repair. One child (2.9%) with DS and complete atrioventricular septal defect (CAVSD) died early postoperatively because of pulmonary hypertension. Two patients (5.7%) had low cardiac output syndrome, and 15 (42.9%) suffered pulmonary complications. III degree atrioventricular block (AVB) occurred in 4 patients (11.5%). Thirty children who were followed up 10 months to 6 years [(3.8±1.1) years] are in NYHA class I or II. There were no reoperations or later death.@*CONCLUSION@#CHD in DS children can be repaired with a low risk of mortality, although a high incidence of severe infections and III degree AVB can result in a complicated postoperative course. The results of mid-term follow up are satisfactory.

Echo-cardiography-guided occlusion of ventricular septal defect via small chest incision / 中南大学学报(医学版)

OBJECTIVE@#To elucidate the preoperative, intraoperative, and postoperative utility of echocardiographic technology in occlusion of ventricular septal defect (VSD) via small chest incision.@*METHODS@#We performed occlusion of VSD via small chest incision in 446 children. Before surgery, a multiple-section transthoracic echo-cardiogram (TTE) was employed to evaluate various parameters (including the size, position, and type) of the VSD region as well as the condition of neighboring tissues. During surgery we reassured the size of the occluder, meanwhile, guiding placement of the occluder by transesophageal echocardiogram (TEE). Patients also received postoperative follow-ups at regular intervals.@*RESULTS@#Out of the 446 VSD cases, the defects of 412 patients were successfully closed; a 92.4% successful rate. All patients received follow-ups one year after operation. The occluders had stayed firmly and echoed clearly. No notable residual shunt or valve regurgitation was discovered.@*CONCLUSION@#During occlusion of VSD via small chest incision, echo-cardiogram technology (including TTE and TEE) can play a vital role by helping screen cases preoperatively, by guiding the closure intraoperatively, and by evaluating therapeutic efficacy postoperatively, providing relatively accurate and accountable results at all stages.

Evaluation of minimally invasive peratrial device closure of secundum atrial septal defects in children / 中南大学学报(医学版)

OBJECTIVE@#To introduce peratrial device closure of secundum atrial septal defects (ASD) under the guidance of transesophageal echocardiography (TEE) without cardiopulmonary bypass (CPB) in children, and to summarize the clinical experiences.@*METHODS@#A total of 115 children with secundum ASD (the occlusion group) underwent peratrial device closure of atrial septal defects through a small sternotomy under TEE guidance without cardiopulmonary bypass. Children were followed up closely for 1-13 months. Another 59 children (the bypass group) had closed atrial septal defects under cardiopulmonary bypass during the same period. The differences in the operation duration, convalescence and complication between the 2 groups were compared.@*RESULTS@#Except 1 patient was operated under the CPB, the rest 114 patients in the occlusion group were successfully closed by the occluders. The duration of the operation, mechanical ventilation, intensive care and hospitalization, and the rate of blood-transfusion in the occlusion group were significantly lower than those in the bypass group (P0.05).@*CONCLUSION@#Minimally invasive peratrial device closure of ASD without CPB is a relatively simple, safe and effective operation under the guidance of TEE for children. The short and mid-term clinical outcomes are promising. Long-term follow-up is indispensable.

Unidirectional valved patch for congenital heart disease with severe pulmonary hypertension / 中南大学学报(医学版)

OBJECTIVE@#To explore the effect of unidirectional valved patch (UVP) for congenital heart disease (CHD) with severe pulmonary hypertension (PH).@*METHODS@#We retrospectively analyzed the treatment of 37 CHD patients with severe PH by UVP in the operation, and summarized its short-term to mid-term effect to find an optimum therapeutic regimen.@*RESULTS@#Before the operation, the ECG showed that the mean pulmonary artery pressure (MPAP) ranged 65-72 mmHg, and the cardiac catheterization showed the pulmonary artery pressure ranged 80-120 mmHg, P(P)/P(A) ranged 0.8-1.05,PVR ranged 8.5-19.2 (under oxygen inhalation 6.8-14.6) wood unit.After the operation, P(P)/P(A) ranged 0.4-0.72 on weaning-off CPB. Postoperative ECG showed the MPAP ranged 32-48 mmHg. No pulmonary hypertension crisis occurred and no patient died. Mechanical ventilation time ranged from 32 h to 8 d and the SaO₂ ranged 93%-96% at rest after the extubation.The right-to-left shunt situations by ECG were as follows:22 cases had shunt 5 d after the operation, 11 cases had shunt 1 month after the operation,4 cases 3 months after the operation, and none 1 year after the operation but one patient lost follow-up.However,there were no long-term follow-up data: 12 patients had a 1-year follow-up, 5 patients had a 3-year follow-up, and most patients had just 3-month follow-up.@*CONCLUSION@#UVP can decrease the operative risk in CHD with severe PH at perioperative period. The short-term to mid-term effect is satisfactory, while long-term effect remains uncertain.

Surgical repair for anomalous drainage of left superior vena cava to left atrium / 中南大学学报(医学版)

OBJECTIVE@#To investigate the characters and surgical treatment methods of anomalous drainage of left superior vena cava to left atrium.@*METHODS@#Clinical data of 8 cases were analyzed retrospectively.The patients aged from 6 months to 168 months with weight between 6 and 29 kg.@*RESULTS@#The associated cardic lesions existed in all patients: 4 had partial atrioventricular septal defect (PAVSD),including 1 coronary sinus orifice atresia (CSOA), 1 ventricle septal defect (VSD), 1 ventricle septal defect associated with right ventricular outlet tract stenosis (VSD/RVOTS), and 1 atrial septal defect (ASD) and complete atrioventricular septal defect (CAVSD), respectively.No patient died. Preoperation diagnosis was in 1 case, intraoperation diagnosis in 5 cases,and postoperation diagnosis in 2 cases due to reoperation for hypoxemia.Three patients were repaired by intratrium tunnel, and the other 5 were managed by extracardic shunt.@*CONCLUSION@#This lesion is easily missed in preoperation diagnosis,which can be avoided by awareness and careful inspection.The methods for management of anomalous drainage of left superior vena cava to left atrium depend on time of diagnosis and experience of surgeons.

Surgical Treatment of Congenital Heart Diseases with Infective Endocarditis / 中国医师杂志

Objective To summarize the experience of surgical treatment of congenital heart diseases combined with infective endocarditis. Methods All the patients of congenital heart diseases combined with infective endocarditis who received the surgical treatment in our department from January 1995 to December 2001 were retrospectively reviewed,which including 28 cases of single malformation and 11 cases of complex malformations. Results There were 3 early postoperative deathes, and the mortality rate was 7 7%. Followed up 5 months to 5 years with a mean of 3 6 years, there was 1 case of recurrent endocarditis and not late death. Conclusions Congenital heart diseases with infective endocarditis is an absolute surgical indication, and early surgical treatment of congenital heart diseases will lower the incidence of infective endocarditis.