Severe Cardiac Anomalies Research Articles

0512: Utility of echocardiography for detecting of hypoxic myocardial injury in newborns

to evaluate the utility of echocardiographic exam (echo) for diagnosis and follow up of perinatal posthypoxic myocardial injury. Patients: 78 newborns aged 0 to 14 days, normal birth weight, with perinatal hypoxia, receveing resuscitation (Apgar score 3-7), but without major congenital heart defects. In all cases were performed: clinical exam, ECG, chest X-ray (Rx.CT), Doppler echocardiography exam (Echo). Most of our patients were evaluated clinically and echo and after 6 months. The patients had mainly signs of neurological post hypoxic suffering, without signs of severe cardiac involvement. The cardiac exam revealed: systolic murmur (64) and signs of persistent pulmonary hypertension of newborn (PPHN). Chest X-ray: cardiomegaly (35 cases). ECG: severe left ventricle (LV) repolarization disturbances and low voltage of QRS complexes (37), without ischemic changes. Echo performed at 2-7 days of life revealed: the absence of other severe congenital cardiac anomaly; permeability of foramen ovalae (100% cases); myocardial hypertrophy (42 cases) mainly interventricular septal (29), signs of PPHN (6) with mild to severe tricuspid insufficiency and right atrium dilation (28 cases); prolonged isovolumic relaxation period(35), increased myocardial performance index (44), the systolic function normal (all cases) and severe LV diastolic dysfunction (E/A<1) in 45 cases. All the cases received spironolactone 1-2mg/kg/day. Reevaluation at 6 months showed the reduction of the myocardial hypertrophy and of the tricuspid regurgitation, with a normal LV diastolic function. The perinatal hypoxia can induce the apparition of a true posthypoxic cardiomypathy at more than 69% of patients, the signs of cardiovascular suffering missing often. Echo exam and especially Tei Index is the main method for diagnosis and follow up of perinatal hypoxic cardiomyopathy and is necessary from the first week of life.

Statistical modelling of survival for babies with oesophageal atresia

Aim of studyWe examined variables associated with survival for oesophageal atresia between 1996 and 2014. MethodsPossible explanatory variables: birth weight, gestation, cardiac anomalies (any or major), renal anomalies (any or severe), primary anastomosis, leak, secondary oesophageal surgery, tracheomalacia, aortopexy, tracheostomy, gastrostomy, fundoplication, karyotype, neurological status. Variables were assessed with logistic regression and a new model assessed with Kaplan–Meier graphs. Results104/120 (87%) babies survived. Median gestation 37weeks, 4 (3%) born before 28weeks. Mean birth weight 2.3 (SD 0.7) kg, 17 (14%) less than 1500g. Frequency (%) of explanatory variables: Major cardiac anomaly 21 (18%), any cardiac anomaly 48 (40%), severe renal anomaly 10 (8%), any renal anomaly 25 (21%), primary anastomosis 105 (88%), anastomotic leak 16 (13%), symptomatic tracheomalacia 28 (23%), aortopexy 17 (14%), tracheostomy 12 (10%), neurological anomaly 7 (6%), fundoplication 15 (13%), gastrostomy 30 (25%), secondary oesophageal surgery 8 (7%), abnormal karyotype 6 (5%). Multivariate analysis showed only renal (OR 0.04, 0.007 0.2) p=0.001, cardiac (OR 0.1, 0.002 0.6) p=0.01 and a primary anastomosis (OR 12.2, 1.8 81.6) p=0.01 (R2=0.48), or major cardiac (OR 0.04, 0.007 0.29) p=0.001 and severe renal anomalies (OR 0.009, 0.001 0.12) p<0.001 alone were significant (R2=0.57). ConclusionsSurvival is dependent on cardiac and renal anomalies. Birth weight is not significant. We propose a new classification system: 1: neither severe renal nor major cardiac anomaly, 2: either severe renal or major cardiac anomaly, 3: severe renal and major cardiac anomaly.

Utility and feasibility of integrating pulse oximetry into the routine assessment of young infants at primary care clinics in Karachi, Pakistan: a cross-sectional study.

BackgroundHypoxemia may occur in young infants with severe acute illnesses or congenital cardiac anomalies, but is not reliably detected on physical exam. Pulse oximetry (PO) can be used to detect hypoxemia, but its application in low-income countries has been limited, and its feasibility in the routine assessment of young infants (aged 0–59 days) has not been previously studied. The aim of this study was to characterize the operational feasibility and parent/guardian acceptability of incorporating PO into the routine clinical assessment of young infants in a primary care setting in a low-income country.MethodsThis was a cross-sectional study of 862 visits by 529 infants at two primary care clinics in Karachi, Pakistan (March to June, 2013). After clinical assessment, oxygen saturation (Sp02) was measured by a handheld PO device (Rad-5v, Masimo Corporation) according to a standardized protocol. Performance time (PT) was the time between sensor placement and attainment of an acceptable PO reading (i.e., stable SpO2 + 1 % for at least 10 s, heart rate displayed, and adequate signal indicators). PT included the time for one repeat attempt at a different anatomical site if the first attempt did not yield an acceptable reading within 1 min. Parent/guardian acceptability of PO was based on a questionnaire and unprompted comments about the procedure. All infants underwent physician assessment.ResultsAcceptable PO readings were obtained in ≤1 and ≤5 min at 94.4 % and 99.8 % of visits, respectively (n = 862). Median PT was 42 s (interquartile range 37; 50). Parents/guardians overwhelmingly accepted PO (99.6 % overall satisfaction, n = 528 first visits). Of 10 infants with at least one visit with Sp02 <92 % on a first PO attempt, 3 did not have a significant acute illness on physician assessment. There were no PO-related adverse events.DiscussionUsing a commercially available handheld pulse oximeter, acceptable Sp02 measurements were obtained in nearly all infants in under 1 minute. The procedure was readily integrated into existing assessment pathways and parents/guardians had positive views of the technology.ConclusionsWhen incorporated into routine clinical assessment of young infants at primary care clinics in a low-income country, PO was feasible and acceptable to parents/guardians. Future research is needed to determine if the introduction of routine PO screening of young infants will improve outcomes in low-resource settings.

Evaluation of aortopexy in the management of severe tracheomalacia after esophageal atresia repair

Severe tracheomalacia (TM) is a difficult problem in esophageal atresia (EA) patients. We reviewed our experience with aortopexy and other interventions for severe TM in this population. With review ethics board approval, a retrospective review of TM in postoperative EA patients was conducted (1989-2010). Demographics, perinatal, and surgical information regarding EA repair was collected. TM infants were analyzed for symptomatology, clinical severity, investigations, interventions, and outcomes. Data are presented as proportions or median(range). One hundred and thirty-two EA patients were reviewed. Most had type C atresia (87.3%), and 18 patients (13.6%) died. Twenty-five patients (18.9%) had TM of whom five (20%) died. Median symptom onset was 18 days (0-729) after EA repair, with stridor (64%) or retractions/distress (44%) being most frequent. Four and two patients had airway obstruction or cardiorespiratory arrest, respectively. Median time from symptom onset to investigations was 11 days; these were most commonly rigid bronchoscopy (56%) and fluoroscopy (36%). Ten patients (40%) had severe TM on bronchoscopy. Six underwent aortopexy, one fundoplication, and three were treated medically. Length of hospital stay (LOS) post-aortopexy was 13 days (5-60), and ventilation time was 2 days (0-9). LOS was 60.5 (1-69) days postdiagnosis in non-aortopexy patients. Readmission rates for respiratory issues were significantly less in the aortopexy (median 0 vs. 5; P = 0.048) group over 2-year follow up after discharge. Complications of aortopexy included transfusion (1) and temporary diaphragmatic paresis (1), and one mortality secondary to severe congenital cardiac anomalies. Our experience suggests that aortopexy is safe and effective for the treatment of severe TM. It is associated with reduced LOS compared with other treatment strategies and few complications or long-term sequelae.

Standardized reporting for congenital diaphragmatic hernia – An international consensus

Background/purposeCongenital diaphragmatic hernia (CDH) remains a significant cause of neonatal death. A wide spectrum of disease severity and treatment strategies makes comparisons challenging. The objective of this study was to create a standardized reporting system for CDH. MethodsData were prospectively collected on all live born infants with CDH from 51 centers in 9 countries. Patients who underwent surgical correction had the diaphragmatic defect size graded (A–D) using a standardized system. Other data known to affect outcome were combined to create a usable staging system. The primary outcome was death or hospital discharge. ResultsA total of 1,975 infants were evaluated. A total of 326 infants were not repaired, and all died. Of the remaining 1,649, the defect was scored in 1,638 patients. A small defect (A) had a high survival, while a large defect was much worse. Cardiac defects significantly worsened outcome. We grouped patients into 6 categories based on defect size with an isolated A defect as stage I. A major cardiac anomaly (+) placed the patient in the next higher stage. Applying this, patient survival is 99% for stage I, 96% stage II, 78% stage III, 58% stage IV, 39% stage V, and 0% for non-repair. ConclusionsThe size of the diaphragmatic defect and a severe cardiac anomaly are strongly associated with outcome. Standardizing reporting is imperative in determining optimal outcomes and effective therapies for CDH and could serve as a benchmark for prospective trials.

A Medical Link Between Local Maternity Hospitals and a Tertiary Center Using Telediagnosis With Fetal Cardiac Ultrasound Image Transmission

Information and communication technology has been widely applied to various fields, including clinical medicine. We report here a telediagnosis system using ultrasound image transmission. The effect of telediagnosis, using a medical link between local maternity hospitals and our children's medical center, was verified. The number of fetal telediagnosis for cardiac disease, and cases referred to a perinatal care center and emergent transportation of neonates with congenital heart disease from maternity hospitals, were calculated based on the hospital records. The percentage of patients found to have heart disease was compared between out-patient clinic and telediagnosis cases. Telediagnosis increased, allowing maternity hospital staff to obtain support easily from a specialist when making a diagnosis. Many severe cases were transferred to tertiary centers with the correct diagnosis; consequently, the number of emergent transportations of neonates with severe cardiac anomalies continued to below. Telediagnosis was also useful as an educational tool for maternity hospital staff, who improved their skills during conversations with a specialist. Unlike in the outpatient clinic, consultation by telediagnosis was requested even for cases of mild abnormalities, and the number of false-positives increased, while many cardiac anomalies were found in the early stage. Furthermore, telediagnosis was helpful for pregnant women requiring bed rest, and also had the advantage of allowing a doctor to be able to talk with parents. Establishing a fetal telediagnosis system is a useful strategy to improve neonatal care through a medical link between local maternity hospitals and a tertiary center.

Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. We report for the first time on a Moroccan girl with a recombinant chromosome 8 prenatally diagnosed as SLV Rec8 by conventional cytogenetic studies. At birth, an oligo array-CGH (105 K) defined the breakpoints and the size of the imbalanced segments, with a deletion of ≈ 2.27 Mb (8p23.2-pter) and a duplication of ≈ 41.93 Mb (8q22.3-qter); thus this recombinant chromosome 8 differed from that previously reported in SLV Rec8 syndrome. The phenotypic characteristics associated with this SLV Rec8 genotype overlap those commonly found in patients with 8q duplication reported in the literature. We review SLV Rec8 and other chromosome 8 aberrations and suggest that the overexpression of cardiogenic genes located at 8q may be the cause of the cardiac defects in this patient.

Individual Risk Factors and Complexity Associated with Congenital Heart Disease in a Pediatric Medicaid Cohort

To determine the sex and race differences associated with specific congenital heart diseases (CHDs) and the patterns of concomitant conditions associated with eight severe, complex lesions. A 15-year Medicaid dataset (1996-2010) from one state was analyzed for 14,496 patients aged 17 years and younger and diagnosed as having a CHD on one or more service visits to a pediatrician or pediatric cardiologist. Controlling for all other diagnosed CHDs, boys were more likely to be diagnosed as having transposition of the great arteries, hypoplastic left heart syndrome, aortic stenosis, and coarctation of the aorta, whereas African Americans were more likely to be diagnosed as having tricuspid regurgitation, atrial septal defect sinus venosus, coronary artery anomaly, and pulmonary stenosis. Ventricular septal defects, atrial septal defects secundum, patent ductus arteriosus, and pulmonary stenosis were the most prevalent isolated CHDs, whereas tetralogy of Fallot, atrioventricular canal/endocardial cushion defect, common/single ventricle, double outlet right ventricle, and transposition of the great arteries were the most prevalent severe, complex lesions. The complexity of some severe cardiac anomalies appears to be increasing over time. Changes over time in pediatric CHD caseload mix may affect care management and result in prognosis or outcome differences. These changes present important opportunities for pediatricians and pediatric cardiologists to collaborate, especially in the care of the most severe anomalies.

Sudden unexpected neonatal death due to late onset group B streptococcal sepsis—A case report

We report a case of sudden unexpected death due to late onset neonatal group B streptococcal sepsis. A male neonate weighing 2731g was born at 35week gestational age, and discharged at the age of 4days after the birth. At 6days after the discharge (10days after the birth), because of consciousness loss and hypothermia, the neonate was conveyed to an emergency hospital, eventually followed by his death. Forensic autopsy revealed neither severe trauma nor cardiac anomaly. Both lungs were edematous. Histopathologically, a lot of bacterial clusters were found in the lungs and intracerebral vessels. Cerebrospinal fluid contained a lot of leukocytes. Streptococcus agalactiae was detected in the specimens from the feces and the blood. Collectively, we diagnosed that the cause of the neonate's death was late onset group B streptococcal sepsis. In autopsy cases of neonates, careful macroscopic and microscopic observations and bacteriological/virological examination should be performed.

Different varieties of colonic atresia in a series of 13 patients

Purpose The aim of this study was to review our experience in the management and outcome of colonic atresia, either isolated or associated with anorectal anomalies. Methods A total of 13 neonates with colonic atresia were operated upon in the Pediatric Surgery Unit of Zagazig University Hospital between August 2004 and April 2010. Complete data including age, sex, clinical findings, diagnostic procedure, associated anomalies, preoperative management, intraoperative findings, operative procedures, postoperative course, and outcome were reported for each patient. Results Colonic atresia was found in 13 patients, including nine boys (69.2%) and four girls (30.8%). It was located in the ascending colon in four (30.8%) patients, in the transverse colon in three (23%), and in the sigmoid colon in four (30.8%). The other two (15.4%) patients had colonic atresias extending to the small bowel. Two patients had associated anorectal anomalies. Type III colonic atresia was observed in six patients (46.2%), type II in three (23%), and type I in four patients (30.8%). The treatment included resection and primary anastomosis in seven patients (53.8%) and diverting colostomy in six (46.2%). Two patients died: one because of severe neonatal sepsis and the other because of severe cardiac anomalies. One patient developed anastomotic leakage and another had anastomotic dysfunction. Conclusion Colonic atresia is an uncommon cause of neonatal intestinal obstruction. The combination of colonic atresia and anorectal anomalies should be taken into consideration. Proper postoperative care and management of postoperative complications improve the outcome. Keywords : anorectal anomalies, atresia, colon

1156 Hypoxic Perinatal Cardiomyopathy-Diagnosis and Evolution

PurposeTo present the main aspects of myocardial injury secondary to perinatal hypoxia.Methods/patients88 newborns aged 0–14 days, normal birth weight, with perinatal hypoxia (Apgar score 3–7), receveing resuscitation, without major congenital...

An animal model of endocardial fibroelastosis

BackgroundHypoplastic left heart syndrome (HLHS) is one of the most common severe congenital cardiac anomalies, characterized by a marked hypoplasia of left-sided structures of the heart, which is commonly accompanied by a thick layer of fibroelastic tissue, termed endocardial fibroelastosis (EFE). Because human EFE develops only in fetal or neonatal hearts, and often in association with reduced blood flow, we sought to mimic these conditions by subjecting neonatal and 2-wk-old rat hearts to variations of the heterotopically transplanted heart model with either no intracavitary or normal flow and compare endocardium with human EFE tissue. Materials and methodsHearts obtained from neonatal and 2-wk-old rats were heterotopically transplanted in young adult Lewis rats in a working (loaded) or nonworking (unloaded) mode. After 2-wk survival, hearts were explanted for histologic analysis by staining for collagen, elastin, and cellular elements. These sections were compared with human EFE tissue from HLHS. ResultsEFE, consisting of collagen and elastin with scarce cellular and vascular components, developed only in neonatal unloaded transplanted hearts and displayed the same histopathologic findings as EFE from patients with HLHS. Loaded hearts and 2-wk-old hearts did not show these alterations. ConclusionsThis animal model for EFE will serve as a tool to study the mechanisms of EFE formation, such as fluid forces, in HLHS in a systematic manner. A better understanding of the underlying cause of the EFE formation in HLHS will help to develop novel treatment strategies to better preserve growth of the hypoplastic left ventricle.

Use of microcatheter for intraabdominal survey

BackgroundLaparoscopy is the most common procedure for minimally invasive intraabdominal surveys. Patients with pulmonary hypertension (PHTN) may need an alternate approach because the systemic absorption of carbon dioxide may lead to hypercapnia, acidemia, and increases in systemic and pulmonary pressures. We report a case of intraabdominal survey using a microcatheter trocar (Check-Flo Introducer) in a patient with a large adnexal mass and PHTN. CaseAn adolescent girl with severe PHTN and multiple cardiac anomalies presented with oligomenorrhea. During the course of workup, an ultrasound revealed an 8-cm simple cyst in the right adnexa, which required removal. The decision was made to proceed with cystectomy. The patient was not a candidate for laparoscopy, and an alternative method was used. The Check-Flo Introducer, a microcatheter trocar; crystalloid fluid infusion; and a 3-mm laparoscopic camera were used to survey the abdominal cavity, revealing a 10-cm simple paratubal cyst that could be safely drained and removed via a minilaparotomy incision. ConclusionThe microcatheter trocar is a useful and novel alternative in patients who cannot tolerate increases in intraabdominal pressure.

Central aortic blood pressure and augmentation index: comparison between Vasotens&amp;reg; and SphygmoCor&amp;reg; technology

Central aortic blood pressure and augmentation index: comparison between Vasotens&reg; and SphygmoCor&reg; technology Anatoliy N Rogoza,1 Aleksandr A Kuznetsov21Cardiology Research Complex, Moscow, Russian Federation; 2Therapy Research Institute, Siberian branch of Russian Academy of Medical Science, Novosibirsk, Russian FederationIntroduction: The aim of this study is the comparison of Vasotens&reg; technology as used in a device with an oscillometric method of blood pressure measurement (BPLab, Petr Telegin Ltd, Nizhny Novgorod, Russian Federation) against the validated tonometric system (SphygmoCor&reg;, AtCor Medical Pty Ltd, West Ryde, Australia).Methods: The examinations were carried out in two medical centers. Exclusion criteria included atrial fibrillation, severe cardiac anomalies, heart failure, arrhythmia, decompensated diabetes, the presence of an artificial pacemaker, pregnancy, and BMI &gt; 30. Overall, 160 patients and healthy volunteers were examined. Central aortic systolic blood pressure (aSBP) and augmentation index (aAIx) were obtained by means of applanation tonometry and the oscillometric method was compared.Results: aSBP and aAIx measured using the BPLab device equates significantly with the same parameters measured by SphygmoCor.Conclusion: This finding allows the recommendation of Vasotens technology, which can be used with the 24-hour BPLab monitoring system for wide clinical use.Keywords: central aortic blood pressure, augmentation index, validation, Vasotens&reg;, BPLab&reg;

Surgical management of distal tracheal stenosis in children

The objective of this study was to describe the long-term outcomes of tracheoplasty for distal tracheal stenosis, demonstrate the utility of cardiopulmonary bypass for intraoperative airway management, and compare perioperative morbidity and mortality of slide tracheoplasty for distal tracheal stenosis to costochondral graft, and resection with end-to-end anastomosis. Retrospective chart review. A retrospective chart review of all patients undergoing tracheoplasty for distal obstruction and also requiring the use of cardiopulmonary bypass for intraoperative airway management from 1994 to 2009 was performed. The setting for the study was a tertiary care children's hospital. A total of 11 patients, aged 1 month to 12 years, were identified. Four patients underwent slide tracheoplasty, two had end-to-end anastomosis, and five had costochondral graft. Average cardiopulmonary bypass time was 120 minutes, 60 minutes, and 63 minutes, respectively. The only complication of cardiopulmonary bypass was a superficial wound infection. There was one late death due to airway obstruction after repair of severe cardiac anomalies. The numbers of bronchoscopies required for resolution of granulation tissue in the slide tracheoplasty and end-to-end anastomosis groups were less than for the cartilage graft group. Three patients in the cartilage graft group required tracheostomy, and one remained tracheostomy dependent at last follow-up. None in the slide tracheoplasty or end-to-end anastomosis groups required a tracheostomy during management. Improvements in operative techniques and perioperative management have led to significant decreases in morbidity and mortality. At our institution, slide tracheoplasty has become the preferred technique for all except very short segment stenosis, and cardiopulmonary bypass is used in all cases involving the distal trachea.

Notch Initiates the Endothelial-to-Mesenchymal Transition in the Atrioventricular Canal through Autocrine Activation of Soluble Guanylyl Cyclase

The heart is the most common site of congenital defects, and valvuloseptal defects are the most common of the cardiac anomalies seen in the newborn. The process of endothelial-to-mesenchymal transition (EndMT) in the cardiac cushions is a required step during early valve development, and Notch signaling is required for this process. Here we show that Notch activation induces the transcription of both subunits of the soluble guanylyl cyclase (sGC) heterodimer, GUCY1A3 and GUCY1B3, which form the nitric oxide receptor. In parallel, Notch also promotes nitric oxide (NO) production by inducing Activin A, thereby activating a PI3-kinase/Akt pathway to phosphorylate eNOS. We thus show that the activation of sGC by NO through a Notch-dependent autocrine loop is necessary to drive early EndMT in the developing atrioventricular canal (AVC).

Chromatin remodelling complex dosage modulates transcription factor function in heart development

Dominant mutations in cardiac transcription factor genes cause human inherited congenital heart defects (CHDs); however, their molecular basis is not understood. Interactions between transcription factors and the Brg1/Brm-associated factor (BAF) chromatin remodelling complex suggest potential mechanisms; however, the role of BAF complexes in cardiogenesis is not known. In this study, we show that dosage of Brg1 is critical for mouse and zebrafish cardiogenesis. Disrupting the balance between Brg1 and disease-causing cardiac transcription factors, including Tbx5, Tbx20 and Nkx2–5, causes severe cardiac anomalies, revealing an essential allelic balance between Brg1 and these cardiac transcription factor genes. This suggests that the relative levels of transcription factors and BAF complexes are important for heart development, which is supported by reduced occupancy of Brg1 at cardiac gene promoters in Tbx5 haploinsufficient hearts. Our results reveal complex dosage-sensitive interdependence between transcription factors and BAF complexes, providing a potential mechanism underlying transcription factor haploinsufficiency, with implications for multigenic inheritance of CHDs.

305 Conotruncal and coronary artery development in two mouse models of congenital heart defects

Conotruncal heart defects are among the most frequent congenital heart diseases. Coronary artery anomalies are commonly associated with outflow tract malformations. The molecular and cellular mechanisms underlying their development have yet to be unravelled. TBX1, encoding a T-box transcription factor, is the major DiGeorge syndrome (del22q11.2) candidate gene and is required for pharyngeal and cardiovascular development. Tbx1-/- embryos have severe cardiac anomalies including a common arterial trunk. DiGeorge syndrome patients have a high incidence of conotruncal defects including persistant truncus arteriosus and tetralogy of Fallot. We have shown that the common arterial trunk in Tbx1-/- embryos has an aorta-like phenotype associated with severe reduction of a subpopulation of second heart field progenitor cells normally contributing to myocardium at the base of pulmonary trunk. Underdevelopment of subpulmonary myocardium is thought to be the primary defect in human conotruncal defects like tetralogy of Fallot. Anomalous coronary artery patterning occurs in Tbx1-/- hearts. Semaphorin3c, encoding a neurovascular guidance molecule is expressed in a Tbx1-dependent domain in the subpulmonary myocardium. Disruption of the semaphorin signaling pathway during heart morphogenesis results in outflow tract defects and anomalies of the aortic arch arteries. Sema3c-/- embryos also display common arterial trunk with interruption of the aortic arch but coronary artery patterning appears normal. Here we present a comparative analysis of the evolution of common trunk in these two models and investigate potential genetic interaction between these genes. Future subaortic and subpulmonary regions are prefigured in the E10.5 outflow tract. Using a candidate gene approach and microarray analysis at E10.5 we aim to identify additional genes expressed in subpulmonary myocardium that may contribute to conotruncal and coronary artery development.

Experience in treating congenital esophageal atresiain China

PurposeThe aim of the study was to evaluate our recent experience in treating esophageal atresia (EA) and the outcomes observed at a single center for pediatric surgery. Materials and MethodsThe records of infants with EA from 2006 to 2009 were reviewed. Birth weight, associated anomalies, details of management, complications, and outcomes were examined. ResultsForty-eight consecutive infants with EA were identified from 2006 to 2009, of which 33 (69%) were boys. Mean birth weight was 2668 g (range, 1700-3800 g). Common associated malformations (35%) were cardiac anomalies, imperforate anus, limb anomalies, and chromosomal anomalies. Forty-seven were Gross type C, and one was Gross type A. Forty-five infants underwent ligation of the tracheoesophageal fistula and end-to-side primary anastomosis, and one received a colonic interposition. Six patients died (12.5% mortality). Three died before or during operation because of severe pneumonia and complex cardiac anomalies, and 3 died during recovery (within 1 month after repair) because of aspiration and severe pneumonia (early postoperative mortality was 6.67%). Complications included pneumonia, anastomotic leakage (16%, all recovered after conservative treatment), wound sepsis (11%), recurrent tracheoesophageal fistula (9%) (3/4 recovered after conservative treatment), anastomotic stricture (10%), and gastroesophageal reflux in about 2 of 3 patients. Preoperative computed tomographic imaging and 3-dimensional graphic reconstruction used in 15 patients were useful. ConclusionsMost patients with EA have excellent short- to midterm surgical outcomes. The main factors for mortality are complex cardiac anomalies, aspiration, and pneumonia. Computed tomographic imaging and 3-dimensional graphic reconstruction can provide surgeons with excellent preoperative reference about the anatomy of the defect. Most anastomotic related complications resolve with conservative treatment. Patients of low-risk prognosis group with type A and long gap EA can be managed with a primary colonic interposition with good results. The main midterm complications are gastroesophageal reflux and stricture.

Co‐occurrence of Prader–Willi and Sotos syndromes

A patient with atypical phenotypes of Prader-Willi syndrome (PWS) was subjected to investigate genomic copy numbers by microarray-based comparative genomic hybridization analysis. Severe developmental delay, relative macrocephaly, protruding forehead, cardiac anomalies, and hydronephrosis were atypical for PWS. Concurrent deletions of 15q11-13 and 5q35 regions were revealed and identified as paternally derived. The sizes and locations of the two deletions were typical for both deletions. Although each deletion independently contributed to the clinical features, developmental disturbance was very severe, suggesting combined effects. This is the first report of co-occurrence of PWS and STS. The co-occurrence of two syndromes is likely incidental.