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 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Maude Abbott was a pediatrician and cardiologist who spent her life working as a pathologist at McGill University, Montreal, Quebec and published over 100 articles. Her magnum opus was The Atlas of Congenital Heart Disease, which listed a classification of cardiac disease based on 1000 pathological cases. Her work as a pathologist and her correlation of pathological samples with physical symptoms provided a foundation of the classification of heart disease and the medical-surgical interventions. She also predicted causation and prevention. She introduced the use of pathological specimens to medical teaching. In addition to her papers on pathology, Abbott also published articles and books on the history of medicine. In January 2000, Canada Post produced a stamp as a tribute to her work.
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PMID:Maude Abbott: a biography. 1093 8

Congenital heart disease is the leading non-infectious cause of death in children. It is becoming increasingly clear that many cardiac abnormalities once thought to have multifactorial aetiologies are attributable to mutations in developmental control genes. The consequences of these mutations can be manifest at birth as life-threatening cardiac malformations or later as more subtle cardiac abnormalities. Understanding the genetic underpinnings of cardiac development has important implications not only for understanding congenital heart disease, but also for the possibility of cardiac repair through genetic reprogramming of non-cardiac cells to a cardiogenic fate.
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PMID:A genetic blueprint for cardiac development. 1100 Oct 64

Neurological complications contribute significantly to mortality and morbidity from congenital heart disease with serious long-term consequences. Congenital heart disease has also been shown to adversely influence the neurodevelopmental outcome of children. In developing countries such as India, majority of congenital heart defects remains uncorrected and major neurological complications are frequently encountered. Stroke and brain abscess are the commonest neurological complications of unoperated congenital heart disease. In developed countries the focus has now shifted to neurological complications of cardiac surgery in the very young as a result of cardiopulmonary bypass and total hypothermic circulatory arrest. A variety of neurological disturbances are now being increasingly recognized and are currently the subject of intense investigations. In this review the neurological complications of uncorrected congenital heart disease and the common neurological complications that result from operations for congenital heart disease will be discussed.
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PMID:Neurological complications of congenital heart disease. 1112 14

First-cousin marriage may be a significant risk factor for specific types of congenital heart disease in a consanguineous population. Inbreeding studies suggest an autosomal recessive component in the cause of some congenital heart defects. We studied a large sample of patients with structural congenital heart defects (CHD) identified through the Congenital Heart Disease Registry at King Faisal Specialist Hospital in Riyadh, Saudi Arabia. After exclusions of chromosome abnormalities and non-participation, data were collected on 891 consecutive patients who were registered between January and August, 1998. Data on first-cousin consanguinity and type of CHD diagnosis were collected. A z test of proportions was used to determine the association between consanguinity and subtypes of CHD. Data indicate that the proportion of first cousins in the CHD sample is higher than the proportion in the general population, supporting a hypothesis of autosomal recessive gene involvement in congenital heart disease. When subgroups of CHD were analyzed, first-cousin consanguinity was significantly associated with ventricular septal defect (VSD), atrial septal defect (ASD), atrioventricular septal defect (AVSD), pulmonary stenosis (PS), and pulmonary atresia (PA). There was no relationship between consanguinity and tetralogy of Fallot (TOF), tricuspid atresia (TA), aortic stenosis (AS), co-arctation of the aorta (CoA), and patent ductus arteriosus (PDA). Thus, in a population with a high degree of inbreeding, consanguinity may exacerbate underlying genetic risk factors, particularly in the offspring of first cousins. There may be a recessive component in the causation of some cardiac defects.
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PMID:Consanguinity and congenital heart disease in Saudi Arabia. 1117 87

A community based survey of congenital heart disease was carried out on a random sample of 11,833 children below 15 years in Delhi, India. Congenital heart disease was diagnosed on clinical history and/or clinical examination. Out of the examined sample, 50 were found suffering from congenital heart disease, giving an overall prevalence of 4.2/1000 (4.6/1000 in boys and 3.7/1000 in girls). The prevalence rate was slightly higher than other studies carried out in the country. The reason is obvious. The present study is community based while other studies were hospital or school based. The type of lesions were similar to those reported from other studies. The lesions in order of frequency were ventricular septal defect (46%), atrial septal defect (18%), patent ductus arteriosus (14%), Fallot's tetrology (10%), aortic stenosis (4%), and pulmonary stenosis (4%). Like other studies ventricular septal defect was the commonest lesion. The prevalence rate was higher in the age group 0-4 years and 5-9 years in boys whereas it was higher in adolescent age group (10-14 years) in girls.
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PMID:Epidemiological study of congenital heart disease. 1145 Mar 79

Congenital heart disease in humans results from abnormal morphogenesis of the embryonic cardiovascular system. The characterization of mutations affecting cardiovascular development in animal models ranging from flies to mice has identified many of the key signaling molecules and transcriptional regulators of heart formation. Many of these molecules are also mutated in familial forms of human congenital heart disease. Through the use of animal models combined with analysis of human pedigrees, a molecular framework that controls formation of the vertebrate heart is beginning to emerge.
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PMID:Heart development: learning from mistakes. 1207 77

Congenital heart disease in the newborn is a unique and complex problem faced by both pediatricians and cardiologists as it requires skillful handling and balancing of both neonatal issues as well as cardiac physiology. Babies with cyanotic and acyanotic heart disease are physiologically different from each other and management has to be tailored to the individual diagnosis and clinical status. Rapid diagnosis and appropriate management is the key to reducing mortality and morbidity in this fragile patient population. The following review deals with the common presentations of heart problems in a newborn baby and methods of diagnosis, investigative modalities, recent advances and approach to management.
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PMID:Approach to congenital heart disease in the neonate. 1213 36

Congenital heart disease occurs in about 0,8% of all newborns. Many cardiac malformations occur among relatives and have a polymorphic presentation. The origin of most congenital heart disease is thought to be multifactorial, implying both anomalous expression of genes and the influence of epigenetic factors. However, in a small number of cases, the origin of congenital heart disease has been directly related to chromosomal anomalies or to defects in a single gene. Curiously, defects in a single gene can explain a polymorphic presentation if the anomalous gene controls a basic embryonic process that affects different organs in time and space. Some of these genes appear to control the establishment of laterality. The establishment of the left-right asymmetry starts at the Hensen node. Here, the initial embryonic symmetry is broken by cascades of gene activation that confer specific properties on the left and right sides of the embryo. Although there are variations between species, some basic patterns of gene expression (Nodal, Pitx2) appear to be maintained along the phylogenetic scale. Anomalous expression of these genes induces the heterotaxia syndrome, which usually courses with congenital heart disease. The development of heart malformations is illustrated with the mouse mutant iv/iv, which is a model for the heterotaxia syndrome and the associated congenital heart disease.
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PMID:[Congenital heart disease, heterotaxia and laterality]. 1223 26

Congenital heart disease (CHD) is the most common life-threatening defect in the first month of life. Its incidence is 8 per 1000 live newborns. Fetal echocardiography is used to screen, diagnose, monitor, and treat congenital heart defects and rhythm abnormalities. Early and improved diagnosis can hopefully impact morbidity, mortality, and emotional well-being of the family. Over the past three decades, fetal echocardiography has evolved into a discipline whereby the diagnosis of congenital heart disease has improved survival and in utero interventions. Continued research, improved technology, and broadened expertise will hopefully allow the health care team to provide better outcomes.
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PMID:Prenatal diagnosis of congenital heart disease: the beginning. 1245 Jan 54

Congenital heart disease (CHD) occurs in 8 per 1000 live births, with approximately one third of these neonates requiring intervention in the first month of life. Neonates with respiratory distress, cyanosis, feeding difficulties, low cardiac output, or dysmorphic syndromes commonly have CHD. Clinical suspicion increases in a symptomatic infant with a heart murmur, but the presence or absence of a murmur does not assure either the presence or absence of significant congenital heart disease. Infants suspected to have CHD may be divided into premature and term infants, as well as infants with duct-dependent pulmonary blood flow, infants with duct-dependent systemic blood flow, and infants with unrestricted pulmonary blood flow. This article will also address the specialized clinical situations of total anomalous pulmonary venous return, transposition of the great arteries, and hypoplastic left heart syndrome with intact atrial septum.
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PMID:The neonate with suspected congenital heart disease. 1245 Jan 56


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