[Study of the hereditary transmission of heart diseases: congenital heart disease in twins].
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Disease↗
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[Early management of neonates with suspected congenital heart disease].
Congenital heart diseases may remain asymptomatic for days or weeks after birth. Early diagnosis of prenatally undiagnosed congenital heart diseases rests upon familial history of congenital heart disease and clinical signs such as cyanosis intrauterine growth retardation, tachypnea, excessive sweating, feeding difficulties, or abnormal cardiac auscultation. Hyperoxia test, blood gas determination, chest x-ray and electrocardiogram are the most useful complementary tests before the anatomical evaluation by the pediatric cardiologist. The initial medical management includes mechanical ventilation and oxygen supplementation, insertion of a good quality central or peripheral vascular line, correction of metabolic disorders, sedation, and prostaglandin administration in order to maintain the opening of the ductus arteriosus.
Diagnosis, Differential↗
Biplane and multiplane transesophageal echocardiography: evaluation of congenital heart disease.
Congenital heart disease can be a diagnostic challenge. Transesophageal echocardiography (TEE) has markedly extended the diagnostic power of the ultrasound examination. Outpatient TEE is most useful in the assessment of adult congenital heart disease. Outside the acute care setting, TEE is not commonly used to diagnose pediatric congenital heart disease. Most anomalies can be accurately assessed with transthoracic echocardiography. In the intensive care unit, cardiac catheterization laboratory, and operating room, TEE is used in patients of all ages to assess the anatomic and functional spectrum of preoperative and postoperative congenital heart disease. A consistent anatomic presentation is used to show various congenital cardiac anomalies.
Adult↗
Screening for congenital heart disease.
Congenital heart disease has the characteristics of a disease that is suited to screening, and the four-chamber view is an effective screening tool with a sensitivity of 40% to 50%. The use of multiple cardiac views can increase the pre-natal detection to 60% to 80%. Given that most infants with congenital heart disease are born to low-risk women, routine screening is warranted. Early pre-natal diagnosis provides an opportunity to exclude associated extracardiac and chromosomal abnormalities, discuss pregnancy options, adjust obstetric management, prepare parents for delivery of an affected baby, and plan delivery in a tertiary care center. Despite the widespread use of ultrasonography, only 15% to 30% of infants with congenital heart disease are identified prenatally. There is a need to do better.
Female↗
Maternal drugs and congenital heart disease.
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.
Amphetamines↗
Profile and risk factors for congenital heart disease.
Congenital heart disease is an important cause of infant mortality and disability. The frequency, spectrum and contributory risk factors for significant cardiovascular malformations among live-births was retrospectively evaluated at the Aga Khan University Hospital. Of a total of 8331 live births between July, 1987 and December, 1992 34 babies were diagnosed to have congenital heart disease in the neonatal period giving a prevalence of 4 per 1000 live births. Ventricular septal defects was the most common (n = 10, 29%) abnormality. Eight cases had associated chromosomal abnormality, the most common being Trisomy 21. Maternal abortions, still-births, consanguinity and diabetes mellitus were not found to be significant risk factors for congenital heart disease in this survey.
Case-Control Studies↗
Pregnancy and congenital heart disease.
Congenital heart disease as a complicating factor in pregnancy has assumed increasing clinical importance because improved techniques of surgical repair have resulted in a larger proportion of affected women living to the reproductive age. The most serious forms are those associated with pulmonary hypertension (such as the Eisenmenger syndrome), which carry a prohibitively high risk of maternal death. Complex forms of cyanotic heart disease, of which the commonest is the tetralogy of Fallot, are only slightly less dangerous. It has recently been recognized that children born to women with congenital heart disease are at increased risk of having cardiac defects; fetal echocardiography is therefore an important diagnostic test. Optimal care of the pregnant woman with congenital heart disease is best provided by a team consisting of internist-cardiologist, obstetrician-perinatologist, obstetric anesthesiologist, and ultrasonographer-echocardiographer.
Delivery, Obstetric↗
The pathophysiology of pulmonary hypertension in congenital heart disease.
Congenital heart disease with increased pulmonary blood flow commonly leads to the development of pulmonary hypertension and increased vascular reactivity. These serious sequelae are associated with the following two major categories of congenital heart defects: those resulting in increased pulmonary blood flow and increased pulmonary arterial pressure and those resulting in increased pulmonary venous pressure. Recent evidence that the pulmonary vascular endothelium is an important determinant of vascular tone has led to the hypothesis that endothelial injury, secondary to congenital heart disease with increased pulmonary blood flow, disrupts these regulatory mechanisms and thereby plays a role in the development of pulmonary hypertension and its associated increased vascular reactivity. In many animal models, endothelial dysfunction is a precursor for smooth muscle dysfunction, and there is an apparent progression from endothelial dysfunction to smooth muscle dysfunction as vascular changes progress. We established a chronic model of pulmonary hypertension with increased pulmonary blood flow in young lambs by placing a systemic-to-pulmonary shunt in utero. In this model, we found significant physiologic and molecular alternations of both the nitric oxide (NO) and endothelin signaling pathways, two important mechanisms by which the endothelium regulates pulmonary vascular tone. These alterations occur extremely early and precede severe anatomic changes. Early endothelial damage may contribute to the development of pulmonary hypertension and its associated enhanced pulmonary vascular reactivity.
Animals↗
The neonate with suspected congenital heart disease.
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.
Cardiac Output, Low↗
HAND proteins: molecular mediators of cardiac development and congenital heart disease.
Congenital heart defects are the clinical manifestation of anomalies in embryonic cardiac development. Such defects occur in distinct regions or chambers of the heart. A molecular framework in which to consider cardiac development and congenital heart disease in a segmental fashion has begun to emerge. dHAND and eHAND are two related basic helix-loop-helix transcription factors that are expressed in a complementary fashion in the developing right and left ventricles, respectively. They are also expressed in the neural crest-derived cardiac outflow tract and aortic arch arteries. Targeted mutations of dHAND and eHAND in mice have revealed novel pathways of organogenesis in mesodermal and neural crest derivatives. dHAND mutants exhibit hypoplasia of the right ventricle, branchial arches, and aortic arch arteries. The distinct nature of cardiac defects in dHAND mutants provides an entry into dissecting molecular pathways governing morphogenesis of specific components of the heart. Congenital heart disease is considered as a defect in segmental development of the heart and the role of dHAND and eHAND in regulating such developmental pathways in normal and abnormal cardiogenesis is examined.
Animals↗
Deciphering the molecular genetics of congenital heart disease.
Congenital heart diseases are starting to benefit from the major advances provided by the advent of molecular biology methods. It is now possible to identify genes which are responsible for congenital heart diseases. The gene responsible for supravalvular aortic stenosis--an autosomal dominant trait--was cloned last year. It is the elastin gene. DiGeorge and Shprintzen syndromes, conotruncal anomaly face and some cardiac malformations have a common cause: a deletion of the 22q11 region resulting in a monosomy. Although the region of deletion is large, it is possible that monosomy of only one gene results in these conditions. Studies are underway to evaluate the impact of this new genetic factor on the incidence of congenital heart malformations. Studies on familial bundle branch block, and lateralization defect with midline anomalies are soon going to show a chromosomal region with the gene defect. Discovering the genes and their protein products which are implied in the cardiac morphogenesis will definitively change our understanding of these cardiac malformations.
Abnormalities, Multiple↗
Overdistention of the neural tube causes congenital heart disease.
Congenital heart disease consists of cardiac anomalies that originated before or during the truncus arteriosus stage. The central nervous system, serving all organs, is the first to develop. It is the only organ possessing a third circulation. Immediately after the neural tube closes at the fourth week, its lining of immature ependymal cells secretes a proteinaceous neural tube fluid (NTF) at a pressure higher than the amniotic pressure. The resulting distention helps to shape not only the embryonic brain and spinal cord but also the bordering mesodermal cells that later will form vertebrae. The choroid plexus does not begin to secrete true cerebrospinal fluid until two weeks later. Should hypersecretion occur during this critical two week interval, the neural tube will overdistend and allow NTF to infiltrate into mesoderm (Fig. 1). Here, this fluid with its extraneous protein, may damage cells that are destined to form the anlagen of mesodermal organs such as the heart. It may also damage the primitive gut resulting in pulmonary, gastrointestinal and genitourinary anomalies. The most convincing evidence that the neural tube had been overdistended is the combination of anterior and posterior spina bifida that constitutes bilateral hemivertebrae. Vertebral anomalies are present in congenital heart disease though scarcely recognizable on the chest film of the newborn.
Animals↗
Enhanced expression of vascular endothelial growth factor in pulmonary plexogenic arteriopathy due to congenital heart disease.
Congenital heart disease (CHD) leading to increased pulmonary blood pressure and flow is an important cause of pulmonary plexogenic arteriopathy (PPA). This type of arteriopathy tends to progress to an irreversible stage, hallmarked histologically by the emergence of a number of characteristic lesions, which include concentric laminar intimal proliferation and fibrosis, and plexiform lesions. The pathogenesis of these lesions, which connote a very poor prognosis, is not well understood. Since endothelial cell proliferation has been demonstrated in these lesions, it was hypothesized that vascular endothelial growth factor (VEGF), a key mediator of angiogenesis, might play a role in their pathogenesis. Thirty-nine patients with various types of CHD, who underwent cardiac catheterization and subsequent cardiac surgery, were studied prospectively. On the basis of a detailed assessment of the type of cardiac defect, the haemodynamic abnormalities, and the histopathological features evident from open lung biopsies, taken in all instances, patients were histologically grouped into cases with moderate PPA (n=18), advanced PPA (n=7), pulmonary congestive vasculopathy (PCV, n=5), and controls lacking pulmonary hypertension or increased pulmonary blood flow (n=4). Five patients were excluded from analysis because of inadequate sample size or quality. The presence of VEGF was assessed immunohistochemically using standard procedures and was correlated with haemodynamic and histological data. Immunoreactive VEGF was detected in pulmonary arterial smooth muscle cells and endothelial cells in 13 out of 34 cases and was more frequent and more pronounced in patients with the histological lesions of advanced PPA than in those with moderate PPA (p<0.01). VEGF positivity was particularly prominent in the lesions characteristic of advanced PPA. No difference in VEGF expression was observed between controls, PVC, and moderate PPA cases. Measured haemodynamic parameters did not differ significantly between VEGF-positive and VEGF-negative cases. We conclude that VEGF may play a role in the angioproliferative changes of advanced PPA.
Child↗
Primary care in children with congenital heart disease.
Congenital heart defects, abnormalities in the structural development of the heart, occur in approximately 1% of live births. With improved detection, diagnosis, medical management, and surgical techniques, the number of children surviving with congenital heart disease is increasing. These children require the same comprehensive primary care as all other children; however, there are certain aspects of primary care that will be affected by the presence of a congenital heart defect. This article attempts to clarify the special considerations regarding growth and nutrition, development, physical activity, immunizations, dental care, use of over-the-counter medications, and perioperative concerns for these children. The unique needs of the cardiac transplant patient are beyond the scope of this article.
Child↗
At risk: adolescents and adults with congenital heart disease.
Congenital heart disease includes a variety of malformations or defects arising during fetal development that affect the heart and major vessels. Because of improved diagnostics and therapy, infants who would otherwise have died soon after birth are surviving to adulthood and living longer, more productive lives. This growing population requires specialized care from advanced clinical nurses who understand these patients' unique concerns and needs.
Adolescent↗
Nutritional issues in infants and children with congenital heart disease.
Congenital heart disease is often associated with a clinical picture of failure to thrive from unique nutritional issues. Poor weight gain, less than expected linear growth, and variances in normal development are commonly seen both in infancy and throughout childhood when defects are unrepaired. Major factors associated with disturbances in growth and development as well as a review of current therapeutic interventions are explored in this article.
Child↗
Academic outcomes in children with congenital heart disease.
Congenital heart disease (CHD) is often associated with intellectual, developmental, and academic late effects related to the diagnosis itself and treatment. This literature review examines what is currently understood about these intellectual and academic deficits. It appears that children with CHD, and particularly those with cyanotic CHD, are at risk for significant impairments in visual spatial skills, visual motor skills, and overall processing speed. Early neurocognitive interventions, especially with younger children, may prove beneficial for remediating some of these deficits.
Age Factors↗
Developmental and genetic aspects of congenital heart disease.
Congenital heart defects (CHDs) are the result of abnormal cardiac mesoderm or cardiac neural crest development. The molecular cause of most congenital heart disease remains unknown, although numerous cardiac regulatory factors have recently been described. dHAND and eHAND are basic helix-loop-helix transcription factors expressed differentially in the right and left ventricles, respectively, and in the cardiac neural crest. Mice lacking dHAND have a hypoplastic right ventricle and abnormal development of vessels arising from the heart and cell death of craniofacial precursors. By searching for dHAND-dependent genes, a gene likely responsible for the cardiac and craniofacial defects associated with chromosome 22q11 deletion has been identified. A systematic dissection of molecular pathways involved in cardiogenesis should allow for further identification of genes responsible for CHD.
Adaptor Proteins, Vesicular Transport↗