Left ventricular growth in a patient with critical coarctation of the aorta and hypoplastic left ventricle

An infant is presented who at birth met criteria consistent with hypoplastic left heart syndrome. He was followed clinically and by 11 weeks of age demonstrated substantial growth of the left ventricle. He underwent successful repair of coarctation of the aorta and continues to do well with moderate aortic stenosis. The difficulties of predicting left ventricular growth and function are discussed, and management options are reviewed.     

眶周截骨和皮瓣转移修复放疗后眼眶发育不良畸形

目的　探讨放射治疗所引起的眼眶发育不良的整形外科治疗方法。方法　通过眶周截骨扩大眶腔 ,重建眼眶的骨架结构 ,采用皮瓣移植完成结膜囊的再造和局部凹陷的充填。结果　12例眼眶发育不全患者经手术后均获得满意效果。结论　联合应用眶周截骨前移和皮瓣转移可有效地修复放射治疗所致的眼眶骨组织和软组织的畸形。     

Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare, autosomal dominant disorder of interstitial lung development, leading to pulmonary hypertension, and death in infancy. Associated features include malformations of the heart, gastrointestinal tract, and genitourinary system. ACDMPV is caused by heterozygous variants in the FOXF1 gene or microdeletions involving FOXF1. We present a male infant with ACDMPV, hypoplastic left heart sequence (HLHS), duodenal atresia, and imperforate anus due to a de novo, in frame deletion in FOXF1: c.209_214del (p.Thr70_Leu71del). Previous reports have suggested that microdeletions involving FOXF1 are associated with ACDMPV with congenital heart defects, including HLHS, gastrointestinal atresias, and other anomalies; whereas likely pathogenic variants within FOXF1 have not been reported with ACDMPV and HLHS. This is the first patient reported with ACDMPV, HLHS, imperforate anus, and duodenal atresia associated with a likely pathogenic variant in the FOXF1 gene.     

Pulmonary Failure After Norwood Procedure: Indication for Extracorporeal Membrane Oxygenation? A Case Report

Today some authors consider univentricular repair a contraindication for postoperative cardiac extracorporeal membrane oxygenation (ECMO). The question is whether or not ECMO is indicated as pulmonary support in case of an overwhelming pulmonary infection during the postoperative course after a Norwood procedure. During the prolonged weaning period after a Norwood procedure using a 4 mm aortopulmonary shunt, proven respiratory syncytial virus (RSV) bronchiolitis occurred at the time of expected weaning from artificial ventilation. Venovenous ECMO was able to improve oxygenation, but when pulmonary opacification failed to resolve, ECMO was terminated after 12 days.     

左心发育不良综合征15例超声心动图研究

目的 探讨左心发育不良综合征超声心动图表现，以提高对超声心动图诊断该疾病的认识。方法 收集15例超声心动图资料完整并经证实的左心发育不良综合征患者，对其超声心动图顺序节段性研究的结果进行分析。结果 本组左心发育不良综合征患者最常见的心血管表现为左心发育不全、二尖瓣极重度狭窄或无孔二尖瓣、主动脉瓣极重度狭窄或无孔主动脉瓣、主动脉发育不良及依赖于右心室及动脉导管的系统循环。多数患者肺静脉回流经房间隔分流至右房室，少数患者左房血流经替代途径回流入右房室，分别为心上型肺静脉异位引流、左旋心房主静脉及部分冠状静脉窦无顶，其中1例同时合并三房心及左旋心房主静脉的病例为罕见病例。结论 超声心动图可揭示左心发育不良综合征所有显著的病理解剖及病理生理特征，可指导外科手术，特别是Norwood手术的治疗。     

Expression of Clara cell 10-kDa protein (CC10) in congenital diaphragmatic hernia

Clara cell 10 kDa protein (CC10) has been thought to be fairly specific to Clara cells and a major secretory protein that is both synthesized and released from Clara cells. In the present study, morphometric analyses of the immunohistochemical expression of CC10 were carried out on the bronchioles of human neonates with congenital diaphragmatic hernia (CDH) and then compared with morphometric analyses from a gestationally and postnatally age-matched control group in order to clarify the immaturity of Clara cells in CDH lungs. No difference was found in CC10 expression between the affected side and the unaffected side of the lungs in the CDH group. However, compared with the lungs of the control group, the CDH group showed a significant decrease in CC10 expression, namely, the ratio of CC10-positive cells per bronchiole, per unit perimeter of bronchiole, and per unit bronchiolar surface area. These results suggest that in the lungs of CDH cases, a possible delay in either functional maturation or the development of CC10 synthesis by the bronchioles may exist, and this retardation of functional maturation of the airway is also considered to play a role in the postnatal respiratory insufficiency observed in CDH patients. Accepted: 25 February 1998     

Pulse Oximetry Screening in Wisconsin

Introduction. Pulse oximetry can be used as a screening tool to detect critical congenital heart disease (CCHD) in neonates prior to hospital discharge and the development of symptoms. Newborns suspected of having CCHD based on pulse oximetry screening should have the diagnosis excluded or confirmed with echocardiography. However, echocardiography is not immediately available in all settings in which newborns are delivered and the best course of action in these settings remains to be determined. The purpose of this study was to evaluate the resources available to diagnose and treat newborns with CCHD born in the state of Wisconsin. Methods. We surveyed the nurse managers or administrators of the 99 Wisconsin hospitals in which babies are routinely delivered in the state of Wisconsin. A telephone survey was performed in February and March 2011. The number of births per facility was estimated from the most recent available data (2010). Results. There were 66 179 total births occurring in 106 hospitals in the state of Wisconsin in 2010, with 99 hospitals routinely delivering newborns. Surveys were completed in 88/99 (88.9%), representing 95% of the state's in‐hospital births. All responding hospitals had pulse oximetry available in the nursery. Twenty‐five of 88 (28.4%) of responding hospitals routinely use pulse oximetry to screen for CCHD, representing 35.2% of surveyed hospital births. Same‐day neonatal echocardiography was available at 33/88 (37.5%) of the responding hospitals, representing 74.4% of surveyed hospital births. The average distance to the higher‐level care facility of choice from the hospitals without neonatal echocardiography is 53.1 miles. Conclusion. Pulse oximetry is universally available in Wisconsin newborn nurseries, and pulse oximetry screening for CCHD is currently being performed for many of Wisconsin's newborns. The majority of births in Wisconsin occur in hospitals where same‐day neonatal echocardiography is available for confirmatory diagnosis of CCHD when necessary.     

Molecular markers of cardiomyopathy in cyanotic pediatric heart disease

Cyanotic congenital heart disease (CHD) accounts for approximately 25% of all types of CHD, encompassing a variety of cardiac anomalies. Children with cyanotic CHD are at risk for heart failure, cardiomyopathy, and arrhythmias. In addition to the hemodynamic burden, recent data suggest that hypoxia may contribute to heart failure. Previous studies have shown that neonatal hypoxia results in significant myocardial gene expression alterations that persist in adulthood after the termination of the hypoxic stimulus in the neonatal period or early infancy. In this article we review the current knowledge on molecular biomarkers of cyanotic CHD pathobiology, and expand on how the current knowledge establishes the basis for future studies to further define the role of molecular tools in cyanotic CHD to improve diagnostic, prognostic and therapeutic strategies.