Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability.

Chromosome region 10q22.3-q23.3 contains several low copy repeats (LCRs) and is prone to recombination.

Anomalous origin of the right pulmonary artery from the ascending aorta: results of direct implantation surgical repair in 6 infants.

Background: Anomalous origin of the right pulmonary artery from the ascending aorta (AORPA) is a rare and potential fatal kind of congenital heart disease. This study summarizes the techniques and outcomes of 6 infants with AORPA who underwent the surgical repair.

Methods: Between November 2012 and November 2014, 6 infants with AORPA received surgical repair in the Second Xiangya Hospital and were included in the present study.

Rare de novo copy number variants in patients with congenital pulmonary atresia.

Background: Ongoing studies using genomic microarrays and next-generation sequencing have demonstrated that the genetic contributions to cardiovascular diseases have been significantly ignored in the past. The aim of this study was to identify rare copy number variants in individuals with congenital pulmonary atresia (PA).

Methods And Results: Based on the hypothesis that rare structural variants encompassing key genes play an important role in heart development in PA patients, we performed high-resolution genome-wide microarrays for copy number variations (CNVs) in 82 PA patient-parent trios and 189 controls with an Illumina SNP array platform.

Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11.

Background: RASopathies are a group of disorders related to Noonan syndrome that with dysregulated RAS-mitogen-activated protein kinase (MAPK) signaling pathway. Noonan syndrome (NS, OMIM# 163950) is a both phenotypically and genotypically variable disorder. We and other researchers have demonstrated that copy number variations underlie a small percentage of patients with RASopathies.

Intraoperative device closure of subaortic ventricular septal defects.

Objectives: To evaluate the safety and the indication for percardiac device closure of subaortic ventricular septal defects (VSDs) under guidance of transesophageal echocardiography.

Methods: A total of 62 patients with VSDs immediately below the aortic valve underwent percardiac device closure without cardiopulmonary bypass.

Results: There were no deaths.

[Efficacy comparison between micro invasive occlusion procedure and extracorporeal circulation procedure for treating patients with simple ventricular septal defect].

Objective: To compare the efficacy between micro invasive occlusion procedure and extracorporeal circulation procedure for treating patients with simple ventricular septal defect.

Methods: Two hundred and twenty patients with simple ventricular septal defect (except subarterial ventricular septal defect) were randomly divided into micro invasive group (n = 116) and traditional cardiopulmonary bypass surgery group (n = 104). Clinical data were collected and compared at baseline and at 3, 30 and 180 days after surgery.

Transesophageal echocardiographic guidance of percardiac device closure of intracardiac defects in patients weighing less than 10 kg.

Background: To evaluate the technology of transesophageal echocardiographic guidance of percardiac closure in patients with low weight.

Methods: Forty-two patients with intracardiac defects, aged from two months to five years (median, 18.4 months) and weighted from 4 to 10 kg (median, 8.

Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome.

Purpose: Transforming growth factor beta receptors II gene (TGFBR2) mutations associated with Marfan syndrome and Marfan-associated disorders have been investigated. However, such studies are limited in China. To obtain more information about TGFBR2 mutations, we analyzed 6 unrelated Chinese patients with Marfan-associated disorders and without ocular manifestation.

One-stage correction of aortic coarctation and severe mitral regurgitation via left posteriolateral thoracotomy in a 2-year-old child.

We successfully treated a case of a 2-year-old male with aortic coarctation coexisting with severe mitral regurgitation via left posteriolateral thoracotomy at one stage. After a mitral valve replacement under perfused ventricular fibrillation with moderate hypothermia, we repaired the aortic coarctation with coarctation resection and end-to-end anastamosis with the aid of deep hypothermic circulatory arrest and selective low-flow cerebral perfusion. The patient had an uneventful hospital course and remains well.

[Early surgical treatment for infants with large atrial septal defects or ventricular septal defects complicated by pneumonia: experience of 39 cases].

Objective: This research reported the experience of early surgical treatment for infants with large atrial septal defects (ASD) or ventricular septal defects (VSD) complicated by pneumonia.

Methods: Between January 2003 and January 2008, 39 infants with large ASD or VSD complicated by pneumonia were admitted to the Second Xiangya Hospital. Thirty-six patients underwent surgical repair within 7-10 days after pneumonia had been controlled.

[Surgical treatment of partial atrioventricular septal defect].

Objective: To summarize the experience of surgical treatments of partial atrioventricular septal defect in 60 patients.

Methods: From April 1999 to April 2004, 60 patients of partial atrioventricular septal defect were operated. Fifty-eight patients were performed with suture of the cleft of mitral valve and the other 2 were given mitral valve replacement; For closure of primum ASD, 53 patients with pericardial patches and 7 with Dacron patches.

[Diagnosis and surgical treatment of 102 cases of ventricular septal defect with patent ductus arteriosus].

Objective: To summarize the experience of diagnosis and surgical treatment of ventricular septal defect with patent ductus arteriosus.

Methods: We retrospectively analyzed the clinical data of 102 cases of ventricular septal defect combined with patent ductus arteriosus who underwent surgical treatment. Preoperative ultrasonic cardiogram (UCG) showed ventricular septal defect combined with patent ductus arteriosus in 82 cases and ventricular septal defect in 20 cases.

[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].

Objective: To identify the gene causing hereditary multiple exostoses in a Chinese pedigree.

Methods: Linkage analysis was carried out in the family using microsatellite markers on chromosome 8, 11 and 19 respectively. To detect the mutation, the whole coding sequence and the intron-exon boundaries of the candidate gene were amplified and sequenced.

[Surgical treatment of infective endocarditis: a report of 41 cases].

Objective: To study the characteristics and surgical treatment of infective endocarditis.

Methods: In all patients, surgical treatment was performed including aortic valve replacement in 22, mitral valve replacement in 9, combined aortic and mitral valve replacements in 4, tricuspid valve reconstruction in 3, and pulmonary valve repair in 3. Meanwhile, complicated deformities such as ventricular septal defect (VSD), atrial septal defect (ASD), patient ductus arterisus (PDA), ruptared aneuryem of the aortic sinus and right centricular outflow tract obstruction were corrected.