BACKGROUNDCongenital heart disease (CHD) is the most common congenital malformations with high mortality and morbidity. The prevalence of CHD reported previously ranged from 4 per 1000 live births to 50 per 1000 live births. In this cross-sectional study, we aimed to document the prevalence of CHD in Langfang district of Hebei Province, China by analyzing data collected by hospitals located in 11 the counties of the district, as supported by a public health campaign.

METHODSA total of 67,718 consecutive 3-month-old infants were included from July 19, 2012 to July 18, 2014. Structural abnormalities were diagnosed based on echocardiography findings, including two-dimensional and color Doppler echocardiography results.

RESULTSOf the 67,718 infants, 1554 were found to have cardiac structural abnormalities. The total prevalence of CHD was 22.9 per 1000 live births, a value significantly higher than the previously reported prevalence of 8 cases per 1000 live births. The top five most common cardiac abnormalities were as follows: atrial septal defect (ASD, 605 cases, 8.93‰); ventricular septal defect (550 cases, 8.12‰); patent ductus arteriosus (228 cases, 3.37‰); pulmonary stenosis (66 cases, 0.97‰); and tetralogy of Fallot (32 cases, 0.47‰). The CHD prevalence differed by gender in this study ( χ2 = 23.498,P < 0.001), and the majority of ASD cases were females. Regional differences in prevalence were also found ( χ2 = 24.602,P < 0.001); a higher prevalence was found in urban areas (32.2 cases per 1000 live births) than in rural areas (21.1 cases per 1000 live births). There was a significant difference in the prevalence of CHD in preterm versus full-term infants ( χ2 = 133.443,P < 0.001). Prevalence of CHD in infants of maternal aged 35 years or over was significantly higher ( χ2 = 86.917,P < 0.001).

CONCLUSIONSThe prevalence of CHD in Langfang district was within the range reported using echocardiography. Echocardiography can be used to early diagnose the CHD.

China ; Cross-Sectional Studies ; Ductus Arteriosus ; pathology ; Echocardiography ; Female ; Heart Defects, Congenital ; pathology ; Heart Septal Defects, Atrial ; pathology ; Humans ; Male ; Prevalence ; Pulmonary Valve Stenosis ; pathology ; Tetralogy of Fallot ; pathology

OBJECTIVE: To investigate the effect of cerebral hemodynamic changes on white matter damage in premature infant with patent ductus arteriosus(PDA). METHODS: A total of 106 premature infants were enrolled in the study, including 35 PDA infants with hemodynamic changes (hsPDA group), 35 PDA infants without hemodynamic changes (non-hsPDA group) and 36 non-PDA infants (control group). Serum level of neuron-specific enolase (NES) was detected and craniocerebral ultrasound examination was performed on d3, d7 and d14 after birth. The correlation between blood flow rate of PDA and gray scale value of lateral ventricle was analyzed. RESULTS: Gray scale values of lateral ventricle and serum levels of NES in hsPDA group were higher than those in control group on d3, d7 and d14 (P<0.01), but no significant difference was observed between non-hsPDA group and control group (P>0.05). There was a positive correlation between the blood flow rate of PDA and gray scale value of lateral ventricle (r=0.876, P<0.01) in premature infants. CONCLUSION Patent ductus arteriosus with hemodynamic changes is closely related to white matter damage in premature infants, and early intervention is necessary.
Ductus Arteriosus, Patent ; complications ; Hemodynamics ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Ultrasonography ; White Matter ; pathology

PURPOSE: To investigate the relationship between placental pathology and neurodevelopmental outcomes among extremely low birth weight (ELBW) infants. METHODS: Pathology of placentas from ELBW infants born at a tertiary neonatal intensive care unit from January 2007 to December 2012 were reviewed and placental histology was grouped into 3 categories by a designated pathologist: acute chorioamnionitis (ACA), maternal vascular underperfusion (MVU), and control group. Matched ELBW infants were tested for significant neurodevelopmental delays defined as mental developmental index (MDI) or psychomotor developmental index (PDI) <70, using Bayley Scales of Infant Development-II (BSID-II). RESULTS: The mean gestational age and birth weight of 175 infants were 27.1+/-2.5 weeks and 764.7+/-152.3 g respectively. Placental histology revealed MVU (48.0%), ACA (25.1%) and control (26.9%) in distribution. There were less significant patent ductus arteriosus in MVU group than in control group [adjusted odds ratio (OR)=0.331, P=0.011]. The frequencies of other neonatal diseases and mortality were similar in 3 groups. Sixty four of 175 infants were examined for BSID-II at mean corrected 19.9+/-3.2 months. MVU was associated with significant mental developmental delay (OR=5.185, P=0.036), but after adjustment for head circumference/weight at birth, the statistically significance of association disappeared (adjusted OR=4.391, P=0.075). ACA did not affect neonatal and neurodevelopmental outcomes. CONCLUSION: The result of placenta biopsy could be a useful tool in counseling parents for future neurodevelopmental outcome, however, further studies are required to define definitive association in between placenta biopsy and neurodevelopmental outcomes.
Biopsy ; Birth Weight ; Chorioamnionitis ; Counseling ; Ductus Arteriosus, Patent ; Female ; Gestational Age ; Head ; Humans ; Infant* ; Infant, Low Birth Weight* ; Infant, Newborn ; Intensive Care, Neonatal ; Mortality ; Odds Ratio ; Parents ; Parturition ; Pathology* ; Placenta ; Pregnancy ; Weights and Measures

We report the case of a 70-year-old man with an asymptomatic large patent ductus arteriosus (PDA) incidentally detected on triple-rule-out computed tomography (CT). CT clearly demonstrated a vascular structure connecting the descending thoracic aorta to the roof of the proximal left pulmonary artery, consistent with a PDA. Secondary pulmonary arterial hypertension was also evident on CT. The patient was eventually diagnosed with acute coronary syndrome and was successfully treated with coronary artery bypass graft surgery and concomitant patch closure of the PDA. This article aims to outline the imaging features of PDA and highlight the information provided by CT, which is crucial to treatment planning. The pathophysiology, clinical manifestations and closure options of PDA are also briefly discussed.
Aged ; Aorta, Thoracic ; diagnostic imaging ; Ductus Arteriosus, Patent ; complications ; diagnostic imaging ; Echocardiography ; Heart Diseases ; congenital ; diagnostic imaging ; Humans ; Hypertension, Pulmonary ; complications ; diagnostic imaging ; Infant ; Male ; Obesity ; complications ; Pulmonary Artery ; pathology ; Radiography, Thoracic ; Tomography, X-Ray Computed ; Treatment Outcome ; Young Adult

OBJECTIVETo explore the clinical characteristics of Cornelia de Lange Syndrome (CdLS) and to review the latest clinical research reports.

METHODClinical and laboratory data of one case of neonatal CdLS are reported, and literature on 17 cases of CdLS in China and the international reports of the clinical and molecular biological research on this disease were reviewed.

RESULT(1) The patient was an infant with intrauterine growth retardation and born as a term small for gestational age infant with specific facial features, bone abnormality of extremities, and patent ductus arteriosus (PDA). She also had severe feeding difficulty and slow weight gain. She was followed up till 4 months of age and showed severe developmental retardation. (2) The total number of past reported case of CdLS in China was 17 with a male to female ratio of 6:12. The average age of diagnosis was 17 months. The following specific facial features could be observed: synophrys, long and curved eyelashes, hirsutism, microcephalus, low hairline, broad depressed nasal bridge, long prominent philtrum, and high palate. Most of the patients were complicated with mental retardation, recurrent vomiting or feeding difficulty, abnormal muscle tone, cutis marmorata, hypophalangism, and genitalia anomaly. Clinical manifestations of Chinese patients were similar to those of the overseas reports. The karyotype of 15 cases was investigated and was normal. The etiology of CdLS is unknown. There is no specific treatment. The commonest causes of death are lung diseases caused by gastroesophageal reflex/aspirate related pneumonia.

CONCLUSIONTypical clinical manifestations of CdLS are specific facial features (mainly synophrys, long and curved eyelashes, long prominent philtrum), complications of multi-system malformations (mainly growth and developmental retardation, esophagogastric reflex, hypophalangism), related gene mutations occurred in NIPBL, SMC1A, and SMC3 gene.

Abnormalities, Multiple ; diagnosis ; genetics ; pathology ; Cause of Death ; Child ; Child, Preschool ; Craniofacial Abnormalities ; diagnosis ; genetics ; pathology ; De Lange Syndrome ; diagnosis ; genetics ; pathology ; Ductus Arteriosus, Patent ; etiology ; Female ; Genetic Testing ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability ; etiology ; Magnetic Resonance Imaging ; Male ; Mutation ; Proteins ; genetics ; Severity of Illness Index

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.
Amino Acid Substitution ; Base Sequence ; Cholestasis/*diagnosis ; Ductus Arteriosus, Patent/diagnosis ; Electroencephalography ; Humans ; Infant, Newborn ; Liver/pathology/ultrasonography ; Male ; *Mutation, Missense ; Oxidoreductases Acting on CH-CH Group Donors/*genetics ; Phenotype ; Smith-Lemli-Opitz Syndrome/diagnosis/*genetics

OBJECTIVEThe development of pulmonary vascular bed is strongly flow-dependent. Abnormal pulmonary blood flow leads to pulmonary pathological changes. This study aimed to observe the pathological changes of small pulmonary arteries and alveoli in complex congenital heart defect with diminished pulmonary blood flow but without aortopulmonary collateral artery (APCA) and patent ductus arteriosus (PDA) in infants and young children.

METHODSAutopsy pulmonary specimens obtained from 5 children who died of non-cardiovascular diseases were used as the control group (age: 4-18 months). Fifty-six children (age: 4-36 months) with complex congenital heart defect with diminished pulmonary blood flow but without APCA and PDA served as the study group, including 34 cases of tetralogy of Fallot, 7 cases of double outlet right ventricle with pulmonary stenosis, 9 cases of single ventricle with pulmonary stenosis, 4 cases of tricuspid atresia with pulmonary stenosis and 2 cases of complete atrioventricular septal defect with pulmonary stenosis. Pulmonary specimen sections were stained by hematoxylin-eosin and Weigert-Van Gieson. Percentage of media thickness (MT%), percentage of media section area (MS%), number of small arterial per square centimeter (APSC), mean alveolar number (MAN), mean linear intercept (MLI), proportion of parenchyma area in total area (PPA%) and alveolar to small arterial ratio per unit area (AAR) were measured by morphologic quantitative analysis.

RESULTSMT% (10.93+/-2.87% vs 15.08+/-2.51%), MS% (18.97+/-5.56% vs 25.04+/-3.87%) and APSC (202.43+/-67.45 vs 441.69+/-65.29) decreased significantly in the study group compared with the control group (P<0.01). The internal diameter of small pulmonary artery (80.26+/-21.57 microm vs 58.53+/-10.29 microm; P<0.05), AAR (46.59+/-14.43 vs 34.46+/-4.98; P<0.01) and MLI (144.98+/-44.87 microm vs 108.39+/-20.76 microm; P<0.05) increased significantly compared with the control group.

CONCLUSIONSThe media of small pulmonary arteries becomes thinner, the lumen of small pulmonary arteries becomes larger, and the number of small arterial per square centimeter and the mean alveolar number are reduced in infants and young children with complex congenital heart defect with diminished pulmonary blood flow but without APCA and PDA.

Aorta ; abnormalities ; Child, Preschool ; Collateral Circulation ; Ductus Arteriosus, Patent ; pathology ; Female ; Heart Defects, Congenital ; pathology ; Humans ; Infant ; Lung ; pathology ; Male ; Pulmonary Artery ; abnormalities ; Pulmonary Circulation

We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.
Child, Preschool ; Chromosome Banding ; *Chromosome Deletion ; Chromosomes, Human, Pair 18/*genetics ; Ductus Arteriosus, Patent/genetics/*pathology ; Humans ; Karyotyping ; Male ; Pulmonary Valve Stenosis/genetics/*pathology

Background:The failure of medical treatment for closure of the ductus arteriosus in very premature is still high (41%). Objectives:This study aims to evaluate the response of ductus arteriosus by color doppler ultrasound in premature infants treated with ibuprofen. Subjects and method:A pilot study was conducted at neonatal intensive care patients on 8 prernatures. The mean birth weight was 825 g (640g - 1190g) and gestational average age of 27.4 weeks of amenorrhea with respiratory distress with ductus arteriosus significantly. The average size was 1.9\xb10.3mm. Intervention: Children received the first dose of Ibuprofen 10mg/kg/day at age from 35 to 54 hours of life, and then 5mg/kg/day after 2 doses. Results:The outcome measure of the size of the ductus arteriosus was performed before each dose of Ibuprofen and 6 hours and 12 hours after each dose. At least three different measures has been taken every echocardiographie. 4 ways of evolution kinetics of turnover: 1: ductus arteriosus ferrne rapidly for 12 early hours of 1st dose (2 patients). 2nd: ductus arteriosus after 3rd dose (3 patients). 3rd: ductus arteriosus quickly after first 12 hours of 1st dose and then reopened (1 patient). 4th: ductus arteriosus not ferrne (2 patients). The size of sales decreased significantly 6 hours and 12 hours after the 1st dose of the 1st prernatures cure in 7 (87%) whatever the final outcome (p<0.05). Conclusion:The different responses from one individual to another led us to consider a Echo guide personalized therapy. A further research should be carried out to find a protocol for better value.
Ductus Arteriosus/ pathology ; Ibuprofen/ therapeutic use ; Ultrasonography ; Doppler ; Infant ; Premature

This report describes a case of patent ductus arteriosus (PDA) which was found in a calf during an experiment on an implantable ventricular assist device. This is the first case report of PDA confirmed in the calf in Korea.
Animals ; Cattle ; Cattle Diseases/*pathology ; Ductus Arteriosus, Patent/*veterinary ; Heart Catheterization ; Male