经导管封闭幼儿主动脉-肺动脉间隔缺损一例

患儿女,2岁,于出生后2 d例行查体时被发现心脏杂音.出生3 d至1岁在当地多家医院诊断"先天性心脏病",具体诊断未定,建议体重20 kg后手术.患儿平日多汗,因家长觉孩子一般情况良好,体力与正常同龄儿无明显差别,未进一步诊治.婴儿期患肺炎1次,无心衰病史.     

经导管介入治疗主-肺动脉间隔缺损一例

患儿女,8岁。运动性心悸气短5年于2 0 0 3年5月2 0日入院。体检:身高12 0cm ,体重18 5kg ,血压10 0 / 5 0mmHg ,发育较差,无紫绀和杵状指(趾)。颈静脉轻度怒张,心前区隆起,心界增大,心率110次/min ,节律整齐,胸骨左缘第2～3肋间有连续性机器样杂音,心尖部有Ⅱ/Ⅵ级收缩期返流样杂音,肺动脉瓣区第二心音增强、分裂,两肺呼吸音粗糙有干湿啰音,腹软,肝大肋下3 0cm ,周围血管征阳性。心电图示左心室肥厚;X线胸片示肺血多,肺动脉段突出,心胸比值为0 72 ;彩色多普勒超声心动图示左房左室内径增大,主动脉根部有异常血流束,二尖瓣轻度关闭不全。入…     

An infant with trisomy 18 and a ventricular septal defect

Decisions for critically ill infants with trisomy 18 raise thorny issues about values, futility, the burdens of treatment, cost-effectiveness, and justice. We presented the case of an infant with trisomy 18 to 2 neonatologists with experience in clinical ethics, Annie Janvier and Felix Okah, and to a parent, Barbara Farlow. They do not agree about the right thing to do.     

Symptomatic atrial septal defect in the neonate and infant.

Atrial septal defect, secundum type, is rarely diagnosed and seldom produces symptoms in infancy. 7 patients, aged between 2 weeks and 8 months, who developed congestive failure, are presented. 6 of them had an atrial LR-shunt documented at cardiac catheterization. 1 diagnosis was made at post mortem in the only infant who died. The clinical signs of an ASD do not vary from those normally found in the older child; the causes for early failure are probably rapidly decreasing pulmonary vascular reistance and disturbances of left ventricular compliance. 6 infants improved with conservative or no treatment, although spontaneous closure or significant diminution of the shunt did not occur. Surgical closure can be deferred to a later optimal age for operation. ASD secundum type should be considered as a cause of heart failure in the neonate and infant.     

新生儿主肺动脉间隔缺损合并呼吸窘迫综合症1例

１临床资料患儿,男,５ｄ,系第１胎第１产,孕３６＋５周自然分娩。Ａｐｇａｒ评分１ｍｉｎ６分,经拍打足底开始啼哭,羊水清亮,有羊水吸入史。于生后６ｈ开始出现呼吸困难并进行性加重。当地医院诊断为新生儿呼吸窘迫综合征,予ＣＰＡＰ,抗感染及对症治疗,呼吸困难...     

Bronchial compression in an infant with isolated secundum atrial septal defect associated with severe pulmonary arterial hypertension

Symptomatic pulmonary arterial hypertension (PAH) in patients with isolated atrial septal defect (ASD) is rare during infancy. We report a case of isolated ASD with severe PAH in an infant who developed airway obstruction as cardiomegaly progressed. The patient presented with recurrent severe respiratory insufficiency and failure to thrive before the repair of the ASD. Echocardiography confirmed volume overload on the right side of heart and severe PAH (tricuspid regurgitation [TR] with a peak pressure gradient of 55 to 60 mmHg). The chest radiographs demonstrated severe collapse of both lung fields, and a computed tomography scan showed narrowing of the main bronchus because of an intrinsic cause, as well as a dilated pulmonary artery compressing the main bronchus on the left and the intermediate bronchus on the right. ASD patch closure was performed when the infant was 8 months old. After the repair of the ASD, echocardiography showed improvement of PAH (TR with a peak pressure gradient of 22 to 26 mmHg), and the patient has not developed recurrent respiratory infections while showing successful catch-up growth. In infants with symptomatic isolated ASD, especially in those with respiratory insufficiency associated with severe PAH, extrinsic airway compression should be considered. Correcting any congenital heart diseases in these patients may improve their symptoms.     

合并室间隔缺损的主动脉闭锁一例

患儿男,5岁5个月,因"查体发现心脏杂音"入院.体检:血压:双上肢100/50 mm Hg(1 mm Hg=0.133 kPa),双下肢130/60 mm Hg;肺动脉瓣区第二心音亢进,胸骨左缘2～4肋间可闻及4/6级收缩期杂音,并可触及震颤;口唇及指端无发绀.经皮测四肢动脉血氧饱和度91%～93%.     

Zinc-dependent chemotactic defect in an infant with acrodermatitis

A 5-month-old infant developed acrodermatitis enteropathica when weaned from breast milk to cows' milk. Plasma zinc concentration was low. T- and B-lymphocyte functions were normal, but there was a severe defect of neutrophil chemotaxis. Oral treatment with zinc sulphate (40 mg daily) induced an immediate clinical improvement, with restoration of normal plasma zinc level and complete correction of neutrophil chemotaxis.     

Anomalous ascending aorta causing severe compression of the left bronchus in an infant with ventricular septal defect and pulmonary atresia

Tracheobronchial compression by cardiovascular structures complicates the course after surgery of congenital heart disease. A 2-month-old boy with ventricular septal defect, pulmonary atresia, and velocardiofacial syndrome had severe left main bronchus obstruction due to external compression by an anomalously oriented ascending aorta. The patient’s hypoxemic episodes necessitated extracorporeal membrane oxygenation. We inserted a stent in the left bronchus to open the airway, but the stent was crushed by the anomalous aorta. We later surgically rerouted the aorta and finally restored the patency of the left main bronchus. However, the patient died of fungemia, without being weaned from extracorporeal membrane oxygenation. We conclude that surgery is necessary instead of stent implantation to relieve the external compression of the left bronchus from a vessel with systemic arterial pressure.     

Unusual case of neonatal diabetes mellitus due to congenital pancreas agenesis

Congenital absence of the pancreas is an extremely rare condition. We participated in the care of a patient with an unusual presentation of neonatal diabetes attributable to agenesis of the pancreas. Additional clinical features of the patient included cardiac septal defects, gall bladder agenesis and duodenal malrotation. Appropriate institution of insulin, exocrine pancreatic supplements and surgical repair of the cardiac and intestinal anomalies resulted in the infant's survival. Of the reported cases of congenital pancreas agenesis, two cases have been ascribed to mutations in the insulin promoter factor-1(Ipf-1) gene. Deletion of the Ipf-1-homolog pdx-1 in mice results in the failure of pancreas to develop. Analysis of both exons of the Ipf-1 coding sequence from the presented patient's genomic DNA, however, did not identify a mutation. These results suggest that a congenital or genetic perturbation occurred in this infant most likely before the appearance of dorsal pancreatic bud in the 3 mm long embryonic stage, around the embryonic day 25 in human development, before the onset of Ipf-1 expression.