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

Congenital heart disease is an integral part of many genetic syndromes such as the major trisomies 13, 18, and 21. Little information, however, is available with reference to the incidence of cardiac anomalies in the trisomy 7 syndromes. Two patients with partial trisomy 7q, one of whom had congenital heart disease, are presented. A review of the literature reveals incomplete description of the cardiovascular abnormalities in the majority of case reports of patients with this syndrome, however, when described it appears that there are no specific defects associated with trisomy 7p and 7q, but only an increased frequency of occurrence. Further clinical and postmortem data regarding details of the congenital heart defects associated with trisomy 7 is required to confirm this preliminary observation.
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PMID:The cardiovascular abnormalities associated with duplicated segments of chromosome 7. 265 84

Few conditions associated with nonimmune hydrops fetalis have had a demonstrable causal relationship. Congenital heart disease is often said to be a cause of nonimmune hydrops fetalis and antenatal closure of the foramen ovale is the cardiac abnormality most frequently reported in association with hydrops. In order to examine the role of congenital heart disease in hydrops, and, in particular, that of antenatal closure of the foramen ovale, we reviewed all autopsy cases with hydrops fetalis over an 11 year period and compared cardiac anomalies with those of nonhydropic controls. The incidence of various congenital heart malformations was not significantly different among these groups, suggesting that factors in addition to cardiac anomalies must be considered in the pathogenesis of nonimmune hydrops fetalis.
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PMID:Cardiac abnormalities and nonimmune hydrops fetalis: a coincidental, not causal, relationship. 265 1

A 24-hour telephone transmission service was established for pediatric echocardiography between a general hospital and a children's hospital 500 km distant. Studies were transmitted in real time for interpretation and diagnosis by a pediatric cardiologist. In the first 9 months of operation, studies were transmitted for 18 children with a median age of 5 months. Image and sound quality was excellent. Complete segmental diagnosis was made in 16 patients, and further study was needed in 2 others. In 8 of the 18 patients a new diagnosis was provided, and in 10 patients diagnosis was confirmed. Congenital heart disease was found in 12 patients, other heart disease in 2 and a normal heart in 4. The population included 2 fetuses whose echocardiograms showed hypoplastic left heart and intracardiac tumor. In 4 patients transport was avoided. This is the first report of echocardiographic transmission by telephone, which was shown to be clearly feasible, cost-effective and diagnostic. It provides emergency access to specialist expertise, and may avoid hazardous and expensive transport of ill children.
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PMID:Echocardiography by telephone--evaluation of pediatric heart disease at a distance. 272 36

Congenital heart disease has long been recognized in children with Down's syndrome, but little is known about the manifestations of clinical heart disease in adults with this condition. Therefore, 131 adults with Down's syndrome were examined. Clinical heart disease was considered to be present when an abnormally split S2, systolic click, at least grade 3/6 systolic precordial murmur, or any diastolic precordial murmur was heard. Using these criteria, 38 patients had clinical heart disease and 93 did not. To confirm and evaluate the auscultatory findings, echocardiograms were recorded in 37 of the patients. Comparison between patients without clinical heart disease and those with clinical heart disease showed that neither age (39 +/- 11 vs 40 +/- 12 years, respectively) nor gender (60% vs 66% men, respectively) differed significantly. Eleven had clinical and echocardiographic findings consistent with atrial or ventricular septal defect. Findings consistent with aortic regurgitation were identified in 8, and 18 had mitral valve prolapse. These results suggest that in addition to atrial and ventricular septal defect (which have a well recognized association with Down's syndrome), 2 specific, usually asymptomatic, and heretofore unanticipated valvular cardiac abnormalities may be associated with Down's syndrome.
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PMID:Valvular heart disease (aortic regurgitation and mitral valve prolapse) among institutionalized adults with Down's syndrome. 293 32

Congenital heart disease can now be accurately diagnosed in specialist units from about 18 weeks gestation. By teaching ultrasonographers to examine the four-chamber view of the heart, malformation can be suspected on a routine scan. This will allow a much greater number of pregnancies to be screened effectively for congenital heart disease.
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PMID:Diagnosis of fetal cardiac abnormality. 322 59

Congenital heart disease is a frequent feature of Turner syndrome. Although the most frequent cardiac lesion is coarctation of the aorta, a spectrum of cardiac defects occurs which is limited almost exclusively to defects associated with decreased blood flow through the left heart. We report the results of gross anatomic and microscopic dissection of 12 fetuses aborted between 16 and 26 weeks' gestation, with the classic Turner phenotype of nuchal cystic hygromas, hydrops fetalis, and female genitalia. Eight fetuses showed a consistent constellation of cardiac defects: diminution of the ascending aorta, large pulmonary artery ranging from 1 1/2 to three times the size of the aorta, large patent ductus arteriosus, and juxtaductal coarctation. Another fetus had hypoplastic left heart and aortic atresia. The remaining three fetuses had normal cardiac anatomy. The lymphatic vessels at the base of the great vessels were carefully examined in nine of the fetuses. Although there was no definite correlation between the degree of cardiac pathology and the extent of lymphatic aberrations at the base of the heart at the time of postmortem examination, the high incidence (75%) of left-sided flow defects among these fetuses, all of whom had large hygromas and severe edema, supports the hypothesis that there is a pathogenetic relationship between lymphatic obstruction and congenital heart disease in the 45,X Turner fetus.
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PMID:Coarctation of the aorta in Turner syndrome: a pathologic study of fetuses with nuchal cystic hygromas, hydrops fetalis, and female genitalia. 334 89

Our recent experience in the diagnosis and management of fetal congenital heart disease is presented. During an 18-month period from January 1985 to June 1986, 1757 fetal echocardiograms were performed on a total of 989 antenatal patients. Cardiac anomalies were accurately predicted in 74 cases, 34 of which were associated with extracardiac or chromosomal anomalies. Twenty-three pregnancies were electively terminated. Currently the survival rate for ongoing pregnancies is 17%. A false negative diagnosis was made in 16 cases, the majority involving minor anomalies with a good prognosis and a survival rate of 81%. Prenatal detection of congenital heart disease places the fetus at high risk for chromosomal and extracardiac anomalies. Congenital heart disease detectable during pregnancy is usually severe and associated with a poor long-term prognosis. Termination of the pregnancy may be a reasonable option if a severe anomaly is detected early in pregnancy.
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PMID:Prenatal detection of congenital heart disease: factors affecting obstetric management and survival. 340 92

Congenital heart disease is one of the most significant maladies affecting infants and young children. In most instances a congenital heart defect in the neonate is readily appreciated clinically. But in one group of infants, it may not be clear clinically whether pulmonary disease or cardiac disease is the major cause of the infant's distress. The radiologist is frequently called upon to make this distinction. The purpose of this paper is to present a plain film approach to the diagnosis of congenital heart disease in the neonate which may be of assistance in distinguishing cardiac from pulmonary problems.
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PMID:Distinguishing cardiac from pulmonary problems in the neonate. 361 12

Congenital heart disease occurred in 62% of the reported cases of supernumerary der(22) syndrome. These were most commonly acyanotic lesions such as atrial septal defect, ventricular septal defect or patent ductus arteriosus. Heart disease did not, however, appear to be a major determinant of survival.
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PMID:Congenital heart disease in supernumerary der(22),t(11;22) syndrome. 372 5

Congenital heart disease comprises one-third of all major birth defects. Prevalence estimates depend on the definition of the disease and the postnatal period when the disease is diagnosed. The studies with the longest follow-up estimate that 0.9% of infants are afflicted. The cause of these cardiac defects is largely unknown. The effect of embryonic exposure to maternal drugs during cardiogenesis has been widely studied, and the evidence suggests that maternal use of ethanol, anticonvulsants, lithium, and exogeneous female hormones may increase the risk of congenital heart disease. An antiemetic agent containing doxylamine has been implicated in the courts. This review offers an analysis of the epidemiologic evidence of the occurrence of congenital heart disease in relation to maternal drug use during pregnancy. The evidence indicates that the vast majority of heart malformations cannot be attributed to these pharmacologic agents.
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PMID:Maternal drugs and congenital heart disease. 388 9


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