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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cardiovascular abnormalities were present in 11 of 48 (23%) patients with congeital diaphragmatic hernia. Cardiac abnormalities included congenital heart disease, compression of a major vascular structure, cardiac malposition, and abnormalities in pulmonary circulation. The differential diagnosis between isolated congenital diaphragmatic hernia and coexisting cardiac abnormality may be difficult and may require echocardiographic or invasive studies. Mortality in infants with diaphragmatic hernia and cardiovascular abnormalities is 73% in contrast to 27% in those without cardiac abnormalities.
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PMID:Cardiovascular abnormalities associated with congenital diaphragmatic hernia. 124 7

In 1988, birth defects (BD) among 85,170 children aged 0-14 were investigated in eight provinces and cities of China. The overall prevalence rate was 15.13% in urban, 15.40% in rural areas. The prevalence rate of BD was significantly higher in males than in females (16.66% vs 13.70%). The prevalence rate of BD was significantly higher in mothers aged > or = 35 years than in mothers aged < 35. 20 of 82 categories of BD accounted for > or = 1% of all BD. The 3 leading BD were: cutis angioma, congenital heart disease and indirect hernia. The incidence of mental retardation was significantly higher in children with BD than in children without BD.
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PMID:[Epidemiology of birth defects among children in 8 provinces in China]. 133 Feb 31

A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abnormality and 30% when two or more anatomical systems were involved. Fetal hydrops, duodenal atresia, and omphalocele were the most specific single ultrasound anomalies; fetal hydrops, IUGR, holoprosencephaly, congenital heart disease, diaphragmatic hernia, duodenal atresia, and omphalocele were the most specific multiple anomalies with abnormal amniotic fluid volume. Termination of pregnancy occurred in 32/58 patients diagnosed prior to the 20th week of pregnancy with most (31/32) having a chromosomal anomaly or severe fetal anomaly. Fetuses terminated after the 20th week had chromosomal (7/18) or lethal fetal anomalies (11/18). The most common aneuploidies were trisomy 21, trisomy 18, and 45,X. The decision to terminate the pregnancy was based in most cases on the fetal ultrasound findings. Correlation of ultrasound and clinical findings is important for accurate genetic counselling.
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PMID:Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study. 148 14

The reported mortality for prenatally detected congenital diaphragmatic hernia is high. Polyhydramnios and presentation in early pregnancy have been suggested as high-risk factors adversely affecting outcome. We retrospectively reviewed 55 cases of congenital diaphragmatic hernia diagnosed prenatally in our unit. There was an overall mortality of 73%. The mortality in cases with presentation before 25 weeks' gestation was 74%, if the cases resulting in termination of pregnancy are excluded, compared with a mortality of 60% in those seen after this gestational age. Underdevelopment of left-sided cardiac structures was found to be a helpful prognostic factor. We were unable to confirm the predictive nature of hydramnios. Associated chromosomal anomalies were found in two fetuses and major congenital heart disease in nine. Although diagnosis before 25 weeks' gestation is associated with a higher mortality than in cases detected later, it is not universally fatal. If congenital heart disease and chromosomal anomalies are excluded and there is little or no evidence of left heart underdevelopment, the odds for survival will improve. This should be taken into account when the management of these cases is planned.
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PMID:Prognosis in fetal diaphragmatic hernia. 173 25

During the last decade neonatal surgical results have improved considerably. Except for infants born with serious congenital heart disease, diaphragmatic hernia or exomphalos, postoperative mortality rates for infants with single anomalies have fallen to the region of 10%. This dramatic success story has been marred by a corresponding increase in the number of individuals with several anomalies entering late childhood with severe chronic handicaps. During the remainder of this century much effort will be expended in devising programmes of investigation which will attempt to predict which individuals will have a poor long-term prognosis. Such programmes will necessitate very close liaison between obstetricians, radiologists, neonatologists, local paediatricians, paediatric surgeons, general practitioners and parents. Very urgent surgery is necessary for the best results in infants with gastroschisis, intestinal volvulus and irreducible inguinal hernia, but for most other conditions there have been recent trends away from very urgent surgery to operation during daylight hours within the ensuing 24 h. Surgery within a few hours of presentation is necessary for intussusception and for early acute appendicitis, but perforated appendicitis should be treated by aggressive fluid replacement and intravenous antibiotics and surgery should be contemplated only in the rare cases of continued deterioration.
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PMID:Paediatric emergencies. 176 28

We examined the frequency with which congenital heart disease (CHD) and cytogenetic abnormalities were found associated with omphalocele, gastroschisis, duodenal atresia and posterior diaphragmatic hernias. We performed fetal echocardiograms on 80 patients with these diagnoses and found congenital heart disease in 13 of 37 with omphalocele (35%), 2 of 17 with gastroschisis (12%), 4 of 15 with duodenal atresia (27%), and 2 of 11 with posterior diaphragmatic hernia (18%). Karyotypes were obtained in 74 and were abnormal in 24 (32%). Although most fetuses with these extracardiac malformations and abnormal karyotypes had associated CHD, many did not. Normal karyotypes were found in 69% of fetuses with CHD and omphalocele, and 50% of fetuses with CHD and duodenal atresia. We conclude that CHD may be present in fetuses with extracardiac malformations whether or not the karyotype is normal and that the prenatal evaluation of fetuses with these lesions should include both karyotype and fetal echocardiography. Although karyotypes play an important role in prenatal diagnosis, they are not predictive of normal cardiac structure when normal in the abnormalities studied. Even when the karyotype is normal in the presence of these abnormalities, fetal echocardiography is indicated.
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PMID:Congenital heart disease and fetal thoracoabdominal anomalies: associations in utero and the importance of cytogenetic analysis. 183 50

Three Saudi children with Down's syndrome were found to have anterior diaphragmatic hernias. They all needed surgical correction. In Down's syndrome, besides congenital heart disease and recurrent chest infection, a diaphragmatic hernia should be looked for as a possible cause of respiratory distress and chest deformity.
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PMID:Diaphragmatic hernia in Down's syndrome. 247 43

Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine reported associations. If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued. Furthermore, echocardiography may be of help in differential diagnosis of some anomalies (for instance, skeletal dysplasias). Maternal diabetes and phenylketonuria, as well as exposure to phenytoin, trimethadione, or isotretinoin, may result in multiple systemic defects, including congenital heart disease.
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PMID:Congenital heart disease and extracardiac anomalies: associations and indications for fetal echocardiography. 293 23

From 1958 to March 1987 we corrected 704 patients with pectus excavatum. The condition occurred more frequently in boys (544 patients) than girls (160 patients). In the majority of patients (86%), the defect was evident at birth or within the first year of life. Musculoskeletal abnormalities were identified in 133 patients (scoliosis, 107; kyphosis, 4; myopathy, 3; Poland's syndrome, 3; Marfan's syndrome, 2; Pierre Robin syndrome, 2; prune belly syndrome, 2; neurofibromatosis, 3; cerebral palsy, 4; tuberous sclerosis, 1; and congenital diaphragmatic hernia, 2). Sixteen patients had associated congenital heart disease. A family history of chest wall deformity was present in 37% of the cases and a history of scoliosis in 11%. Surgical correction was performed using a uniform technique for bilateral subperichondrial resection of the deformed costal cartilages and sternal osteotomy resecting a wedge of the anterior cortex and fracturing the posterior cortex. Anterior displacement was maintained with silk sutures closing the osteotomy defect. In 28 early cases, the sternum was secured by intramedullary fixation with a Steinman pin. All repairs were completed with a low complication rate (4.4%; pneumothorax, 11; wound infection, 5; wound hematoma, 3; wound dehiscence, 5; pneumonia, 3; seroma, 1; hemoptysis, 1; hemopericardium, 1). Six complications were associated with Steinman pin fixation (hemoptysis, seroma, hemopericardium, pneumothorax, 3). Major recurrence occurred in 17 patients (2.7%) and led to revision in 12. Satisfactory long-term results were achieved in the remaining 687 patients, with follow-up ranging from 2 weeks to 27 years. Mean follow-up was 4.3 years.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Surgical repair of pectus excavatum. 320 60

Carpenter syndrome (ACPS type II) was first described by Carpenter in 1901. The syndrome consists of acrocephaly, soft tissue syndactyly, brachy- or agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. This review showed that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder. This confirms earlier suggestions of Gorlin (personal communication 1982) and Hall et al [Am J Med Genet 5:423-434, 1980].
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PMID:Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes. 332 2


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