Comparison between the modified Blalock-Taussig shunt and right ventricular outflow tract stent in the palliative treatment for tetralogy of Fallot. / 改良Blalock-Taussigåˆ†æµæœ¯ä¸Žå³å¿ƒå®¤æµå‡ºé“æ”¯æž¶æ¤å ¥æœ¯å§‘æ¯æ€§æ²»ç–—æ³•æ´›å››è”ç—‡çš„æ¯”è¾ƒ.

OBJECTIVES: For patients with tetralogy of Fallot (TOF) who are not suitable candidates for primary corrective surgery or have a high surgical risk, transcatheter right ventricular outflow tract (RVOT) stent implantation is considered a safe and effective palliative intervention. This study aims to investigate the therapeutic outcomes of RVOT stent implantation in neonates and infants with TOF in comparison with the modified Blalock-Taussig shunt (mBTS) and to compare the impact of the 2 palliative interventions on arterial oxygen saturation and pulmonary artery development in pediatric patients. METHODS: Clinical data of 32 patients with TOF admitted to the Second Xiangya Hospital of Central South University from March 2011 to March 2021 were retrospectively collected. The patients were divided into an mBTS group (undergoing mBTS, n=15) and a stent implantation group (undergoing RVOT stenting, n=17) according to the surgical procedures. The 2 groups were assessed and compared in the surgical-related arterial oxygen saturation, postoperative complication rate, mortality rate, and re-intervention rate. The development of the patients' main pulmonary artery, right pulmonary artery, and left pulmonary artery was assessed by z-scores according to echocardiographic results. RESULTS: The children in the stent implantation group were younger and less weighed compared with the mBTS group (both P<0.05). Compared with the preoperative period, children in the stent implantation group had significantly higher arterial oxygen saturation [(75±17)% vs (96±3)%, P=0.026]; z-scores of pulmonary trunk [(-2.82±1.27) points vs (0.86±0.77) points, P=0.014], right pulmonary artery [(-1.88±0.59) points vs (-0.28±0.71) points, P=0.011], and left pulmonary artery [(-2.34±0.36) points vs (-1.67±0.36) points, P=0.036] were significantly increased. However, there were no significant differences in arterial oxygen saturation and pulmonary artery z-scores between pre- and post-mBTS procedures (all P>0.05). CONCLUSIONS: RVOT stent would have good surgical outcomes used in TOF patients with low weight and severe comorbidities. It also leads to an higher postoperative oxygen saturation and better promotion of pulmonary artery growth with RVOT stent compared to mBTS.

Transcatheter closure of perimembranous ventricular septal defect using a novel fully bioabsorbable occluder: multicenter randomized controlled trial.

Although the use of bioabsorbable occluder is expected to reduce the risk of metal occluder-related complications, it has not been approved due to incomplete degradation and new complications. Novel fully bioabsorbable occluders were designed to overcome such limitations. The aim of this study was to investigate the efficacy and safety of a fully biodegradable occluder in patients with ventricular septal defects. 125 patients with perimembranous ventricular septal defect (VSD) larger than 3 mm were screened from April 2019 to January 2020 in seven centers. 108 patients were enrolled and randomized into the bioabsorbable occluder group (n = 54 patients) and nitinol occluder group (n = 54). A non-inferiority design was utilized and all patients underwent transcatheter device occlusion. Outcomes were analyzed with a 24-month follow-up. All patients were successfully implanted and completed the trial. No residual shunt >2 mm was observed during follow-up. Transthoracic echocardiography showed a hyperechoic area corresponding to the bioabsorbable occluder which decreased primarily during the first year after implantation and disappeared within 24 months. Postprocedural arrhythmia was the only occluder-related complication with an incidence of 5.56% and 14.81% for the bioabsorbable and nitinol groups, respectively (P = 0.112). The incidence of sustained conduction block was lower in the bioabsorbable occluder group (0/54 vs. 6/54, P = 0.036) at 24-month follow-up. In conclusion, the novel fully bioabsorbable occluder can be successfully and safely implanted under echocardiography guidance and reduce the incidence of sustained postprocedural arrythmia. The efficacy and safety of this fully biodegradable occluder are non-inferior to that of a traditional nitinol one.

Diagnosis of covert coarctation of the aorta in adolescents.

Objectives: By reviewing the diagnostic process for adolescents with coarctation of the aorta (CoA) in our institution, we analyzed the reasons for delayed diagnosis of CoA. We also proposed a diagnostic protocol to improve the detection rate of CoA. Methods: In this retrospective study, we included 48 patients aged 12-18 years who were diagnosed with CoA in our hospital from January 2000 to November 2022. Clinical data from involved cases in local hospitals and our institution were collected. Results: All patients had blood pressure (BP) measurements in upper and lower extremities in our institution. They all had hypertension, 29 (60.4%) of whom had known histories of the same. BP in the upper limbs of 47 (97.9%) patients was ≥20 mmHg higher than that in the lower limbs, and BP in the upper limb of 1 (2.1%) patient was greater than 0 and less than 20 mmHg than that in the lower limb. Echocardiography (ECHO) was performed in all patients, computed tomography (CT) or magnetic resonance imaging (MRI) was performed in 44 patients (91.7%). There were 38 (79.2%) patients who visited local hospitals. Among them, a total of 20 (52.6%) patients had their right upper extremity BP measured, 18 (47.4%) only had their left upper extremity BP measured, and 16 (42.1%) had their lower extremity BP measured. ECHO was performed in 27 (56.2%) patients and CT/MRI was performed in 18 (37.5%) patients. The detection rate for CT/MRI was 100%, and those of ECHO were 72.9% and 18.5% at our institution and a local hospital, respectively. Forty-eight (100%) and 23 (60.5%) patients were detected in our institution and local hospitals (P < 0.0001). Conclusion: We recommend measuring BP in the bilateral upper extremities. Measurement of BP in the lower extremities is recommended if hypertension is diagnosed. MRI/CT is recommended when BP in the upper extremity is greater than that in the lower extremity.

Right ventricular outflow tract stenting promotes pulmonary artery development in tetralogy of fallot.

Background: Right ventricular outflow tract (RVOT) stenting seems to be suggested as a promising treatment option and an alternative to modified Blalock-Taussig shunt (mBTS) in the initial palliation of patients with Fallot-type lesions in recent years. This study sought to assess the effect of RVOT stenting on the growth of the pulmonary artery (PA) in patients with Tetralogy of Fallot (TOF). Methods: Retrospective review analyzing 5 patients with Fallot-type congenital heart disease with small pulmonary arteries who underwent palliative with RVOT stenting and 9 patients underwent modified Blalock-Taussig shunt within 9 years period. Differential left PA (LPA) and right PA (RPA) growth was measured by Cardiovascular Computed Tomography Angiography (CTA). Results: RVOT stenting improved arterial oxygen saturation from median of 60% (interquartile range [IQR]: 37% to 79%) to 95% (87.5% to 97.5%) (p = 0.028). The LPA diameter Z-score improved from -2.843 (-3.51-2.037) to -0.78 (-2.3305-0.19) (p = 0.03), the RPA diameter Z-score improved from median -2.843 (-3.51-2.037) to -0.477 (-1.1145-0.459) (p = 0.002), the Mc Goon ratio increased from median 1 (0.8-1.105) to 1.32 (1.25-1.98) (p = 0.017). There were no procedural complications and all 5 patients have undergone final repair in the RVOT stent group. In the mBTS group, the LPA diameter Z-score improved from -1.494 (-2.242-0.6135) to -0.396 (-1.488-1.228) (p = 0.15), the RPA diameter Z-score improved from median -1.328 (-2.036-0.838) to 0.088 (-0.486-1.223) (p = 0.007), and there were 5 patients occur different complications and 4 patients was not attained the standards of final surgical repair. Conclusion: RVOT stenting, compared with mBTS, seems to better promote pulmonary artery growth, improve arterial oxygen saturations, and have less procedure complications in patients with TOF who being absolute contraindicated for primary repair due to high risks.

ECBC: Efficient Convolution via Blocked Columnizing.

Direct convolution methods are now drawing increasing attention as they eliminate the additional storage demand required by indirect convolution algorithms (i.e., the transformed matrix generated by the im2col convolution algorithm). Nevertheless, the direct methods require special input-output tensor formatting, leading to extra time and memory consumption to get the desired data layout. In this article, we show that indirect convolution, if implemented properly, is able to achieve high computation performance with the help of highly optimized subroutines in matrix multiplication while avoid incurring substantial memory overhead. The proposed algorithm is called efficient convolution via blocked columnizing (ECBC). Inspired by the im2col convolution algorithm and the block algorithm of general matrix-to-matrix multiplication, we propose to conduct the convolution computation blockwisely. As a result, the tensor-to-matrix transformation process (e.g., the im2col operation) can also be done in a blockwise manner so that it only requires a small block of memory as small as the data block. Extensive experiments on various platforms and networks validate the effectiveness of ECBC, as well as the superiority of our proposed method against a set of widely used industrial-level convolution algorithms.

Atrial septal defect with a rare occupying lesion in heart.

BACKGROUND: Cardiac epicardium hemangiomas are exceedingly rare; however, they can cause significant hemodynamic impairment and large pericardial effusions. On rare occasion, cardiac tumors coexist with malformations of the heart. CASE PRESENTATION: We present the case of a 10-month-old female infant with a rare cardiac surface hemangioma coexisting with malformations of the heart. It revealed an atrial septal defect (ASD) coexisting with an abnormal occupying lesion with high echogenicity. It was 35*12*9 mm in size and was found in the anterior atrioventricular junction to the posterior atrioventricular junction at the bottom of the ventricular septum by transthoracic echocardiography. We performed surgical treatment of the atrial septal defect and performed biopsy with the occupying lesion. The histopathological examination reported a benign tumor as hemangioma. As far as we know, this is the first case in which cardiac surface hemangioma was found to coexist with an atrial septal defect. CONCLUSIONS: Cardiac epicardium hemangiomas is a rare solid tumor of the heart. If the mass is impossible to resect and does not cause hemodynamic impairment, only mass biopsy is possible.

Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome.

Jacobsen syndrome (JS) is caused by the terminal deletion at the long arm of chromosome 11. It is characterized by growth retardation, intellectual disability, facial dysmorphism, and other congenital abnormalities. The subband 11q24.1 has been confirmed to be the critical region for the typical features of JS. The patient in the current study is a 2-year-old male child with prominent craniofacial abnormalities and congenital heart disease. High-resolution single-nucleotide polymorphism arrays revealed breakage in chromosome 11q beginning at 11q24.2, with complete deletion of the distal portion. We collected all available reports describing patients with breakages at 11q24.1 or 11q24.2, and compared it with the typical features of JS. We found that the phenotype of cleft lip and palate (CLP) was present in both groups of patients with no overlap region in the deletion region (between 11q21-q23 and 11q24.2-qter), which indicated that other genes may be related to CLP in JS.

Case Report: Three-Dimensional Printing-Assisted Surgical Treatment of Complex Body Vein Ectopic Drainage.

INTRODUCTION: Complex ectopic drainage of body veins is a rare congenital disease. Its preoperative diagnosis and surgical choice can be considerable challenges. CASE SUMMARY: A 5-year-old patient was diagnosed precisely by preoperative transthoracic echocardiography, computed tomography (CT), three-dimensional (3D) reconstruction, and three-dimensional (3D) printing of the heart and great blood vessels. The operation was performed successfully using flexible intraoperative intubation strategies. CONCLUSION: 3D printing technology can assist in the formulation of surgical protocols for complex body vein ectopic drainage. Flexible intubation strategies can increase the success of the operation.

Case Report: Transcatheter Closure of Ruptured Sinus of Valsalva With Ventricular Septal Defect Occluder in a 3-Year-Old Child After Repair of Ventricular Septal Defect.

Sinus of Valsalva aneurysm (SVA) is a rare cardiac anomaly that can undergo spontaneous rupture into other cardiac chambers or the pericardial space. A ruptured SVA has a very poor prognosis with high morbidity and mortality. These aneurysms often present as a rupture from the right coronary sinus into the right ventricle. Transcatheter closure has become an effective alternative to surgical treatment. However, it has been rarely reported in patients after ventricular defect repair in the past. We here describe a 3-year-and-3-month-old boy who was found to have a ruptured sinus of Valsalva. He underwent surgical closure of a ventricular septal defect at the age of 2 months, which occurred in the non-coronary sinus (NCS) and ruptured into the right atrium. We successfully occluded the ruptured sinus of Valsalva with a ventricular septal occluder.

Minimally-invasive-perventricular-device-occlusion versus surgical-closure for treating perimembranous-ventricular-septal-defect: 3-year outcomes of a multicenter randomized clinical trial.

BACKGROUND: Minimally-invasive-perventricular-device-occlusion (MIPDO) combined superiority of surgical-repair and percutaneous-device-closure in treating perimembranous-ventricular-septal-defect (pmVSD). This study was to evaluate the efficacy and safety of MIPDO for treating pmVSD, comparing with surgical-repair. METHODS: Patients aged ≥3 months with isolated pmVSDs were randomized to undergo either surgical or MIPDO procedure, with the median follow-up time of 49 months. The primary outcome was the rate of complete pmVSD closure at discharge. The secondary outcomes included the adverse events during hospitalization and follow-up, chest tube output volume, blood transfusion volume, procedural duration, ventilation time, hospitalization duration and hospitalization cost. Also, perioperative cardiac performance and systemic conditions were evaluated. RESULTS: Of the 313 patients (9 months to 42 years old; median, 4 years old) with pmVSDs recruited from 3 centers, 100 were finally enrolled and randomly allocated 1:1 into two groups. The non-inferiority (non-inferiority margin -8.0%) of MIPDO to surgical closure regarding efficacy was shown in both intention-to-treat (0, 95% CI: -0.055 to 0.055) and per-protocol populations (0.02, 95% CI: -0.018 to 0.058). Although the rate of adverse events was similar between groups, the MIPDO group showed superiority in procedural duration, ventilation time, chest tube output volume, postoperative hospitalization time and hospitalization cost compared with surgical group (P<0.05). Moreover, MIPDO method showed comparable perioperative cardiac performance with milder change of systemic condition. CONCLUSIONS: In patients with pmVSDs, MIPDO method showed non-inferiority to surgical closure in efficacy for both intention-to-treat and per-protocol population with easier perioperative recovery, economic benefit and promising outcomes.

Results of two different echocardiography-guided approaches to closure of perimembranous ventricular septal defects.

OBJECTIVES: The feasibility of mini-invasive closure of perimembranous ventricular septal defects has been proven, but can cause surgical incision or sternum injury. A relevant but, to date, unanswered question is whether there exists a treatment without surgical trauma, radiation exposure and arterial complications. METHODS: From May 2017 to January 2020, a total of 449 patients with perimembranous ventricular septal defect [mean age 5.0 ± 6.1 years (range 0.8-52.0 years)] were involved in this study and underwent 2 different echocardiography-guided operative procedures [percutaneous device closure (group A) or percardiac device closure (group B)] based on the patients' or their parents' choice. The clinical data were collected and a retrospective analysis was performed. RESULTS: Fifty-five (96.5%) cases were successfully occluded in group A, and 2 (3.5%) patients were converted to percardiac device closure; 379 (96.7%) patients in group B underwent percardiac device closure, and 13 patients (3.3%) were turned to open-heart surgery after occlusion procedure failure. There were statistically significant differences (P < 0.05) between the 2 groups in operation time, postoperative hospitalization time and blood transfusion requirement. No acute complications or severe adverse events (death, valve injury, complete atrioventricular block and embolism) occurred either in the early period or during the follow-up. CONCLUSIONS: Percutaneous device closure can achieve the same validity and safety as percardiac device closure for treating perimembranous ventricular septal defects with a more rapid recovery and less trauma.

The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.

BACKGROUND: Although most cases of atrial septal defect (ASD) are sporadic, familial cases have been reported, which may be caused by mutation of transcription factor GATA binding protein 4 (GATA4). Herein we combined whole-exome sequencing and bioinformatics strategies to identify a novel mutation in GATA4 accounting for the etiology in a Chinese family with ASD. METHODS: We identified kindred spanning 3 generations in which 3 of 12 (25.0%) individuals had ASD. Punctilious records for the subjects included complete physical examination, transthoracic echocardiography, electrocardiograph and surgical confirming. Whole-exome capture and high-throughput sequencing were performed on the proband III.1. Sanger sequencing was used to validate the candidate variants, and segregation analyses were performed in the family members. RESULTS: Direct sequencing of GATA4 from the genomic DNA of family members identified a T-to-C transition at nucleotide 929 in exon 5 that predicted a methionine to threonine substitution at codon 310 (M310T) in the nuclear localization signal (NLS) region. Two affected members (II.2 and III.3) and the proband (III.1) who was recognized as a carrier exhibited this mutation, whereas the other unaffected family members or control individuals did not. More importantly, the mutation GATA4 (c.T929C: p.M310T) has not been reported previously in either familial or sporadic cases of congenital heart defects (CHD). CONCLUSIONS: We identified for the first time a novel M310T mutation in the GATA4 gene that is located in the NLS region and leads to family ASD with arrhythmias. However, the mechanism by which this pathogenic mutation contributes to the development of heart defect and tachyarrhythmias remains to be ascertained.

Application value of echocardiography in transthoracic punctural closure of postoperative residual ventricular septal defect of congenital heart disease. / è¶ å£°å¿ƒåŠ¨å›¾åœ¨ç»èƒ¸å£ç©¿åˆºæ²»ç–—å ˆå¤©æ€§å¿ƒè„ç— æœ¯åŽæ®‹ä½™å®¤é—´éš”ç¼ºæŸä¸­çš„åº”ç”¨ä»·å€¼.

OBJECTIVES: Residual ventricular septal defect (VSD) after congenital heart disease (CHD) is one of the major postoperative complications in cardiac surgery. At present, the commonly used clinical treatment methods for this complication are reoperation to redo surgical repair with cardiopulmonary bypass (CPB) and percutaneous transcatheter device closure, but these 2 methods have their own advantages and disadvantages. Transthoracic punctural closure of residual VSD is a feasible, safe, and novel technique for patients with residual VSD, which avoids not only the risk of difficulties in reoperation under another CPB due to thoracic adhesion, but also the risk of radiation exposure. Moreover, the operation is easier to handle due to short and direct operation path. This study aims to explore the role and value of echocardiography in transthoracic punctural closure of postoperative residual VSD of CHD. METHODS: A total of 25 patients, who were admitted in the Department of Cardiovascular Surgery, Second Xiangya Hospital, Central South University and accepted transthoracic punctural closure of postoperative residual VSD, were collected. The morphology of the residual VSD and the distance from tricuspid valve and aortic valve were assessed by trans-esophageal echocardiography (TEE) preoperatively, and the location of the punctural point and the direction of puncture were determined. The establishment of delivery track and releasing of occluder device were accurately guided by TEE intraoperatively. The position and morphology of the occluder device, residual shunt, aortic regurgitaion, and outflow obstruction were required close attention in immediately postoperative evaluation. If any dislocation or residual shunt was found, adjustments were needed immediately. Follow-ups were performed at 3-5 days, 1 month, 3 months, 6 months, and 1 year after operation. Occluder location, residual shunt, valvular function, and other complications were observed by transthoracic echocardiography (TTE) to assess the effect of the closure by occluder. Ventricular size and cardiac function were determined to evaluate the state of ventricular remodeling. In addition, cardiac rhythm was monitored by ECG periodically. RESULTS: Of the 25 patients underwent transthoracic punctural closure of postoperative residual VSD, except 1 double outlet right ventricle (DORV) and 1 tetralogy of fallot (TOF) postoperative patients failured and immediately received a thoracotomy surgery with CPB due to excessive size of residual defect and the irregular morphology, the rest 23 patients were successfully closed by the occluders (92.0%). Among the 23 occluders (diameters range from 5 mm to 10 mm), membrane symmetrical VSD occluders were applied to 17 cases, small-waist-large-edge VSD occluder was applied to 1 case, and eccentric VSD occluders were applied to 5 cases. TEE, applied immediately after occlusion, showed the satisfactory position and the shaping of the occluders. There were no residual shunts, no cardiac tamponade, no thrombosis and outflow obstruction. Two patients had small amounts of pericardial effusion. No newly emerging valve reflux was observed. After 3-48 months of observation, there was no device displacement, newly emerging valve reflux, and residual shunt. One case had incomplete right bundle branch block. CONCLUSIONS: Guided by TEE, transthoracic punctural closure of postoperative residual ventricular septal defect of CHD is safe and effective. This procedure has broadened the indications for the minimally invasive treatment of CHD and improved the technical system of the minimally invasive treatment of CHD. TEE which can provide accurate diagnosis and guide the whole process plays a decisive role in this operation technique.

Identification of KIAA0196 as a novel susceptibility gene for myofibril structural disorganization in cardiac development.

BACKGROUND: Congenital heart disease is one of the most common cardiac malformation-related diseases worldwide. Some causative genes have been identified but can explain only a small proportion of all cases; therefore, the discovery of novel susceptibility genes and/or modifier genes for abnormal cardiac development remains a major challenge. METHODS: We used a single nucleotide polymorphism (SNP) array, and next-generation sequencing (NGS) was conducted to screen and quickly identify candidate genes. KIAA0196 knockout zebrafish and mice were generated by CRISPR/Cas9 to detect whether or how KIAA0196 deficiency would influence cardiac development. RESULTS: Homozygous, but not heterozygous, zebrafish and mice showed early embryonic lethality. At the embryonic stage, microscopic examination and dissection revealed pericardial edema and ventricle enlargement in homozygous zebrafish and obviously delayed cardiac development in heterozygous mice, while echocardiography and tissue staining showed that significantly decreased cardiac function, ventricle enlargement, myofibril loss, and significantly reduced trabecular muscle density were observed in adult heterozygous zebrafish and mice. Most importantly, immunostaining and electron microscopy showed that there was a significant increase in sarcomere structural disorganization and myofibril structural integrity loss in KIAA0196 mutants. Furthermore, substantial downregulation in other sarcomeric genes and proteins was detected and verified in a mouse model via transcriptome and proteomics analyses; these changes especially affected the myosin heavy or light chain (MYH or MYL) family genes. CONCLUSION: We identified KIAA0196 for the first time as a susceptibility gene for abnormal cardiac development. KIAA0196 deficiency may cause abnormal heart development by influencing the structural integrity of myofibrils.

Image diagnosis: Eisenmenger's syndrome in patients with simple congenital heart disease.

BACKGROUND: Early identification of congenital heart disease (CHD) allows detection of the pulmonary arteriopathy in an early stage, and timely shunt closure can permanently reverse pulmonary arterial hypertension (PAH). However, surgical correction is not recommended in patients with irreversible PAH. Herein we report our experience about Eisenmenger's syndrome in simple CHD. CASE PRESENTATION: From January 2017 to November 2018, a total of 8 CHD patients (3 ventricular septal defects (VSD), 2 atrial septal defects (ASD), and 3 patent ductus arteriosus (PDA), median age, 15.5 years [range, 3-18 years]) with PAH were detected by chest X-ray, electrocardiogram, transthoracic echocardiography (TTE), computed tomographic angiography (CTA) and cardiac catheterization. The median defect diameter, pulmonary artery pressure (PAP), pulmonary vascular resistance (PVR) were 16.5 mm (range, 3-30 mm), 75 mmHg (range, 60-86 mmHg), and 16 Woods units (range, 12-19 Woods units), respectively. Here, we report the representative cases of three types of simple CHD with irreversible PAH. The surgical correction was not performed in all patients who had fixed PAH and were referred to medical treatment. CONCLUSIONS: PAH in CHD can be reversed by early shunt closure, but this potential is lost beyond a certain point of no return. This article highlights the essence of enhancing the level of healthcare and services in Chinese rural areas. Failure to accurately and timely assess PAH will delay effective treatment past optimal treatment time, and even lead to death.

Percutaneous Puncture Closure of Postoperative Residual Ventricular Septal Defects Without Radiation.

A redo surgical approach to residual ventricular septal defect (VSD) is technically demanding. Sternum reentry has to be performed very carefully to avoid any uncontrolled bleeding, and preparation of the adhesions must be made to expose the most important structures (ascending aorta, caval veins). However, percutaneous transcatheter device closure of the residual VSD with radiation exposure can cause arrhythmia, valve injury, and vascular complications. This report presents a less invasive technique to treat residual VSD, without arterial access, radiation exposure, or cardiopulmonary bypass.