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PubMed1998

Genetics of congenital heart disease: strategies.

Congenital malformations of the heart are the most common of all birth defects. Traditionally, a multifactorial model combining genetic predisposition with environmental influence has been cited as the cause of greater than 90% of heart disease. This may be too broad inasmuch as linkage analysis combined with the explosion of information derived from the Human Genome Project has allowed the identification of genetic defects for many types of acquired and congenital diseases of the heart. This review provides a summary of cardiac conditions for which genetic etiologies are apparent, as well as an introduction to some basic clinical genetic concepts. Despite significant advances, it is important to remember that we are still very early in our understanding of the relationship of genotype to phenotype and that the clinical implications of the genetic defects identified are incompletely understood and have only begun to be studied.

Aortic Valve Stenosis↗
PubMed1970

Genetics and congenital heart disease.

In isolated congenital heart disease genetic factors have been shown from family studies, individual pedigree analyses, the frequency of consanguinity, examination of data from twins, and possibly from cytogenetics. In defects of the atrial septum, where data are most complete, genetic factors appear to be important, particularly in secundum atrial septal defect. In the syndromes with abnormal chromosomes in which congenital heart disease is common, the cardiovascular abnormality is probably directly associated with the abnormal genetic material present. In hereditary disorders with normal chromosomes in which congenital heart disease features, the pattern of inheritance suggests transmission by a single gene or group of genes. The cardiovascular abnormality is genetically determined, though it may not become apparent until many years after birth.

Adult↗
PubMed1992

Counseling adolescents with congenital heart disease.

Adolescents with congenital heart disease need information regarding their cardiac condition and health care needs, including any life-style implications of the cardiac diagnosis. Pertinent topics to be addressed include preventive health care needs, physical activity (recreational and vocational considerations), pregnancy and contraception issues, and psychosocial stresses of adolescents. Sensitive counseling and health education by nurses can promote the physical health and psychosocial adaptation of adolescents with congenital heart disease.

Adaptation, Psychological↗
PubMed1993

Polymorphonuclear leukocyte functions in children with cyanotic and acyanotic congenital heart disease.

Eighteen cyanotic congenital heart disease (CCHD) and 17 acyanotic congenital heart disease (ACHD) patients in the age range of 2 months to 10 years along with their age and nutrition matched controls were studied for bactericidal, chemotactic and phagocytic functions. Bactericidal and phagocytic functions were significantly depressed in CCHD (p < 0.001) as well as ACHD group (p < 0.001) compared with controls. Chemotactic function was not significantly affected in either. Arterial oxygen content (as a measure of hypoxia) was calculated for each patient and correlated with each immune parameter by univariate linear regression analysis. In CCHD patients linear correlation of borderline significance (p = 0.07) was found between arterial oxygen content and bactericidal activity, but no correlation could be established with phagocytic and chemotactic functions. No correlation was obtained between hematocrit and any of the immune parameters. In ACHD patients no correlations were obtained between the immune parameters and arterial oxygen content or hematocrit. Iron deficiency anemia, known to affect bactericidal function, did not seem to affect the immune parameters in CCHD and ACHD groups. Altered oxygen content of the blood owing to hypoxia in CCHD patients may be an important etiological factor in the genesis of bacteremia and cerebral abscess. The affection of immune functions in ACHD cannot be adequately explained.

Child↗
PubMed2001

A pilot study of expenditures on, and utilization of resources in, health care in adults with congenital heart disease.

BACKGROUND: Congenital cardiac disease may be a chronic condition, necessitating life-long follow-up for a substantial proportion of the patients. Such patients, therefore, are often presumed to be high users of resources for health care. Information on utilization of resources in adults with congenital heart disease, however, is scarce. METHODS: This retrospective pilot study, performed in Belgium, investigated 192 adults with congenital heart disease to measure the annual expenditures and utilization of health care and compared the findings with data from the general population. We also sought to explore demographic and clinical parameters as predictors for the expenditures. RESULTS: Hospitalization was documented in 20.3% of the patients, with a median length of stay of 5 days. The overall payment by health insurance associations in 1997 was 1794.5 ECU per patient, while patients paid on average 189.5 ECU out-of-pocket. For medication, the average reimbursement and out-of-pocket expenses were estimated at 78 ECU and 20 ECU, respectively. Expenditures for patients with congenital heart disease were considerably higher than the age and gender-corrected expenditures for the general population (411.7 ECU), though this difference was accounted for by only one-eighth of the cohort of those with congenital heart disease. In general, higher expenditures were associated with abnormal left ventricular end-diastolic diameter, female gender, functional impairment and higher age, although the explained variance was limited. CONCLUSION: Our study has provided pilot data on the economic outcomes for patients with congenital heart diseases. We have identified parameters that could predict expenditure, but which will have to be examined in future research. This is needed to develop guidelines for health insurance for those with congenital heart diseases.

Adult↗
PubMed2003

Efficacy of atrial antitachycardia pacing using the Medtronic AT500 pacemaker in patients with congenital heart disease.

Patients with congenital heart disease are vulnerable to atrial tachyarrhythmias, especially after atrial surgeries. We evaluated the efficacy of atrial arrhythmia detection and antitachycardia pacing (ATP) using the Medtronic AT500 pacemaker in 28 patients with congenital heart disease (age 30 +/- 18 years). Of 15 patients with atrial arrhythmias, 14 had atrial tachycardia events that were appropriately detected. ATP was enabled for 167 treatable episodes, successfully converting 90 (54%). Rhythms classified as ventricular tachycardia were detected 127 times, yet most were actually atrial or sinus tachycardia with 1:1 atrioventricular conduction. Atrial tachycardias in congenital heart disease are amenable to ATP algorithms in the AT500 pacemaker.

Adolescent↗
PubMed1992

Epidemiology of rheumatic and congenital heart diseases in school children.

A stratified random sample of 10,263 school-going children in the age group of 6-16 years from government and private schools were screened for the prevalence of rheumatic fever, rheumatic heart diseases and congenital heart diseases. Fourteen children were found to have rheumatic heart disease with valvular lesions either single or in combination eg, pure mitral stenosis (6 cases), mitral regurgitation (4 cases), combined mitral stenosis and mitral regurgitation (3 cases) and aortic and mitral regurgitation (one case). Eight children had congenital heart diseases in the form of ventricular septal defect (3 cases), atrial septal defect (2 cases), patent ductus arteriosus (2 cases) and congenital bicuspid aortic valve (one case) while none had active rheumatic fever.

Adolescent↗
PubMed2002

Prenatal diagnosis of congenital heart disease: the beginning.

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.

Echocardiography↗
PubMed1996

MR imaging of congenital heart disease.

Patients with congenital heart disease often require mild sedation for the performance of their examination. If adequate monitoring of systemic oxygen saturation and heart rate is performed, then these patients may be adequately studied by MR imaging. Cardiac examination using spin echo pulse sequences provides morphologic information that allows evaluation of situs, ventricular morphology, and atrioventricular and ventriculoarterial connection. Gradient reversal acquisitions display changes in the size and shape of the atria and ventricles as well as demonstration of intracardiac and extracardiac shunts and abnormal flow across the cardiac valves. This information allows evaluation of the underlying congenital abnormality as well as the pathologic sequelae of the cardiac dysmorphology. Cardiac MR examination is a useful means of minimally invasive diagnosis of congenital heart disease and evaluation of its surgical palliation.

Heart Defects, Congenital↗
PubMed1981

Oral hydralazine in patients with pulmonary vascular disease secondary to congenital heart disease.

Two patients with pulmonary vascular obstructive disease secondary to congenital heart disease were evaluated hemodynamically before and during oral hydralazine therapy. Both patients were assessed postoperatively and had no significant residual shunts. Pulmonary vascular resistance failed to decrease, and an increase in pulmonary arterial pressure occurred because of increased cardiac output secondary to systemic arteriolar dilatation. These responses were sufficiently consistent to warrant a warning against the use of oral hydralazine except under controlled conditions in patients with secondary pulmonary vascular obstructive disease.

Administration, Oral↗
PubMed2004

Exercise and training in adults with congenital heart disease.

Patients with congenital heart disease run the risk of overweight and low physical activity. Lifestyle measures are as important in these patients as in the general population. Exercise testing is an effective tool to identify patients in whom exercise may induce arrhythmias or hemodynamic instability but more often to reveal the safety of exercise, which is the conclusion in the majority of these patients. Systematic training programs have only been introduced to small groups of patients with congenital heart disease, and there are only few data on the effects obtained. The studies concluded that the exercise training programs used were safe.

Arrhythmias, Cardiac↗
PubMedDate not supplied

Care of the patient with adult congenital heart disease.

The adult congenital heart disease (ACHD) patient population has numerous and distinctive needs and comprise a rapidly growing group within the modern day healthcare arena. Current treatment provisions along with recommendations for future specialized multidisciplinary ACHD teams are discussed. The exclusive needs of this patient population have forced professional groups to reconsider the availability and appropriateness of current healthcare delivery to this group of complex patients, whose survivability and life expectancy have continued to improve as a direct result of enhanced research, technology, medical, surgical, and nursing care. General care considerations including psychosocial issues and patient education are presented, and reveal the challenges and strengths of caring for this adult patient population within a pediatric facility. Congenital heart disease is a lifelong illness that requires a dedicated, consistent approach to healthcare delivery in order to guarantee quality care throughout the lifespan.

Adult↗
PubMed1993

Energy and nutrient intakes in congenital heart disease.

Children with congenital heart disease may have significant growth retardation, which in part may be caused by insufficient dietary intake. Data on energy and nutrient intake were collected using a 14-day dietary record by weighing, in 22 children with congenital heart disease (mean age 39 months, range 12-126 months), prior to corrective operation. When viewed in relation to actual weight, energy intake averaged 88% (SD 17%) of that recommended by the FAO/WHO/UNU. Energy intakes and weight SD scores were significantly correlated (r = 0.55, p < 0.01). Protein intake was generally high, and even sufficient to allow catch-up growth. The majority of the children did not meet the recommendations for iron, zinc, calcium, or vitamins D, E, C, B1 or B6. Parents should be advised to give their children vitamin/mineral supplements, and to supply extra energy to children with failure to thrive.

Child↗
PubMed2006

Pacing in adults with congenital heart disease.

Adults with congenital heart disease constitute one of the fastest growing populations in cardiology. Pacing is an integral part of their therapy and may reduce their morbidity and mortality significantly. The current generation of pacemakers is more sophisticated and complex, and they are being utilized for indications other than conduction abnormalities, such as termination of tachycardia and improvement of heart failure. The complex anatomy and history of multiple previous surgeries in adults with congenital heart disease, however, pose many limitations and technical challenges related to the placement of a pacemaker. Unique and innovative approaches to endocardial lead placement and improved epicardial leads is making pacemaker implantation more feasible in these patients.

Adult↗