Multimodality imaging in diagnosing lipomatous atrial septal hypertrophy with atrial septal defect: a case report.

Background: Lipomatous atrial septal hypertrophy (LASH) with atrial septal defect (ASD) is a rare congenital anomaly. Although LASH is a histologically benign cardiac lesion characterized by excessive fat deposition in the interatrial septum that spares the fossa ovale, it has been associated with supraventricular arrhythmias or sick sinus syndrome. Application of multimodal imaging is crucial for accurate diagnosis, appropriate treatment of LASH with ASD, and follow-up.

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.

Background: Leigh syndrome, the most common mitochondrial syndrome in pediatrics, has diverse clinical manifestations and is genetically heterogeneous. Pathogenic mutations in more than 75 genes of two genomes (mitochondrial and nuclear) have been identified. PDHA1 encoding the E1 alpha subunit is an X-chromosome gene whose mutations cause pyruvate dehydrogenase complex deficiency.

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.

A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect.

Congenital heart disease (CHD) is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect (ASD) is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-box 20 (TBX20) contribute to congenital ASD.

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.

A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region.

13q deletion syndrome is a rare genetic disorder, especially for group 3 deletion (13q33-q34 deletion). Previously we described a patient with congenital heart defect and mental retardation and proposed that a distal 6Mb region might contain the causative gene of congenital heart defect. Here we present a new patient with congenital heart defects (CHD), hand and foot anomalies and mild mental retardation.

[Effects of early environment on the expression of brain-derived neurotrophic factor and its receptor and brain development].

Objective: To study the effect of early environment on the learning-memory ability of rats and the expression of brain-derived neurotrophic factor (BDNF) and its receptor, tyrosine kinase receptor B (TrkB), and to explore the influence of early environment on development of rat brain in developing stage and possible regulation mechanisms.

Methods: Forty-five newborn Sprague-Dawley rats were randomly divided into three groups (15 rats in each group): enriched environment group (EE group), isolated environment group (IE group) and normal control group (NC group). The pups were nurtured separately in their groups.

Duplication of 8q12 encompassing CHD7 is associated with a distinct phenotype but without duane anomaly.

Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.

Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome.

Noonan syndrome (NS) is a clinically variable and genetically heterogeneous disorder with congenital heart defects (CHD), short stature, and craniofacial dysmorphisms. Gain-of-function mutations in RAF1 can cause NS and the highly related NS with multiple lentigines (previously known as LEOPARD syndrome). Here we report on a 15-year-old male with NS phenotype: short stature, heart defects, low posterior hairline, facial malformations, malformed left ear with sensorineural hearing loss, widely spaced nipples, and unilateral upper limb anomaly.

Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion.

13q deletion syndrome is a rare genetic disorder caused by deletions of the long arm of chromosome 13. Patients with 13q deletion display a variety of phenotypic features. We describe a one-year-old female patient with congenital heart defects (CHD), facial anomalies, development and mental retardation.

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.

[Multifactor analysis of postoperative mechanical ventilation supporting time in infants with congenital heart diseases].

Objective: To analyze the multiple factors affecting the postoperative mechanical ventilation supporting time in infants less than 10 kg with simple congenital heart diseases and to seize time by the forelock of extube and improve the outcome of surgical treatment.

Methods: Data of 231 infants less than 10 kg with atrial septal defect(ASD),ventricular septal defect, and combining patent ductus arteriosus were retrospectively analyzed. The multivaricate stepwise logistic regression statistics were done for the predisposing factors affecting the ventilative supporting time.