Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.

Most children do not have a known cause of cardiomyopathy which limits the potential for disease-specific therapies. Of the different phenotypic presentations of cardiomyopathy, the restrictive form carries the poorest prognosis and has the lowest rate of identification of etiology. We present the first description of a beta-myosin heavy chain gene mutation in an infant with restrictive cardiomyopathy requiring cardiac transplantation. As demonstrated by three-dimensional protein structure modeling, the missense mutation is in a highly conserved amino acid at the critical binding region for the essential light chain. This case emphasizes that mutations in sarcomeric proteins, which are known to cause hypertrophic cardiomyopathy in adults, may be associated with the development of restrictive physiology in childhood. Identification of the genetic basis of pediatric cardiomyopathy has important implications for management and genetic counseling.

Percutaneous closure of the small patent ductus arteriosus using occluding spring coils.

OBJECTIVES: This report summarizes our experience with the use of occluding spring coils to close the small patent ductus arteriosus. BACKGROUND: Several patent ductus arteriosus occluders (most notably the Rashkind device) have been developed and studied. Occluding spring coils have been used to close abnormal vessels and vascular connections. We previously reported the use of occluding spring coils to close the small patent ductus arteriosus in a small group of patients. This report describes our series of patients having patent ductus arteriosus closure with occluding spring coils. METHODS: Between June 1990 and June 1993, 30 patients underwent cardiac catheterization to have patent ductus arteriosus closure by occluding spring coils. Selection criteria were age > 6 months and narrowest patent ductus arteriosus internal dimension < or = 3.0 mm by color flow imaging. Definitive selection was based on review of aortograms performed at catheterization. A 5.2F coronary catheter was used to deliver one or two standard occluding spring coils. A loop was delivered in the main pulmonary artery, and the remainder of the coil was delivered across the patent ductus arteriosus and into the aortic diverticulum. Patent ductus arteriosus closure was confirmed by aortography or color flow imaging, or both. Follow-up after coil placement occurred at 6 weeks and 6 months and included two-view chest radiography, echocardiography and color flow imaging. RESULTS: Of the 30 patients, 29 had successful implantation by one (27 patients) or two (2 patients) occluding spring coils. Of these 29 patients, 19 had a clinically apparent and 10 had a silent patent ductus arteriosus. Average ductus minimal internal dimension was 1.7 mm (range 1.0 to 3.0). Complete closure of the ductus was confirmed in 27 patients by aortography or color flow imaging or both (in 24 within 4 h, in 2 after 6 weeks and in 1 after 6 months). Six weeks after implantation, two patients had a tiny residual patent ductus arteriosus noted on color flow imaging. One patient did not have successful implantation. This patient had a 3.2-mm ductus, and two coils migrated to the distal left pulmonary artery and could not be retrieved. There were no deaths or any significant complications noted during early or late follow-up in these patients. CONCLUSIONS: Occluding spring coils may have additional application in closing the small patent ductus arteriosus.

Neurodevelopmental outcomes in children with Fontan repair of functional single ventricle.

OBJECTIVES: The purpose of this study was to assess the neurodevelopmental status of children after Fontan repair of functional single ventricle and to examine the relationship between cognitive function and selected patient characteristics. STUDY DESIGN: Neurodevelopmental tests including the Stanford-Binet Intelligence (IQ) scale and the Developmental Test of Visual Motor Integration (VMI) were administered to 32 children (26 months to 16 years of age) with complex single ventricle. The mean and distribution of IQ and VMI scores were compared with population norms. The relationship between test scores and patient characteristics was examined utilizing analysis of variance and correlational methods. RESULTS: The majority of children had intellectual function within the normal range (mean, 97.5 +/- 12.1). Below average VMI scores were found in 21.4% of children. There were no significant correlations between intellectual function or visual motor integration ability and preoperative oxygen saturation or age at Fontan. Children who had deep hypothermic circulatory arrest during a prior Norwood procedure tended to have a lower IQ score. CONCLUSIONS: Intellectual development in children with Fontan repair of complex heart defects is essentially within the normal range. Visual motor integration deficits may be more prevalent in these children. In our population, the duration and degree of preoperative hypoxemia had no apparent effect on cognitive function.

The psychosocial impact of pediatric heart transplantation.

Children with terminal heart disease experience a dramatic improvement in functional status after heart transplantation but may be at increased risk for problems in psychosocial adaptation. Selected psychosocial outcomes were assessed in 49 pediatric heart transplant recipients and their families from five heart transplantation centers. Heart transplant recipients did not appear significantly different from their peers on self-report measures of self-concept and anxiety, but they showed significantly less social competence and more behavior problems than a normative population. Behavior problems observed were most frequently suggestive of depression and were significantly associated with greater family stress and diminished family resources for managing stress. The study findings further suggest that the heart transplant recipients' ability to verbalize or ventilate their feelings and concerns to others seems to facilitate psychosocial adaptation. Assessment of stress, resources, and coping is imperative to enable health professionals to promote the psychosocial adaptation of pediatric heart transplant recipients and their families.

Factors influencing perioperative morbidity during palliation of the univentricular heart.

BACKGROUND: The modified Fontan procedure has become the treatment of choice for patients born with a univentricular heart. Although the operative mortality has steadily decreased in recent years, the hospital stay is still prolonged in many patients due to fluid retention and pleural effusions. METHODS: We retrospectively analyzed subsets of patients undergoing the bidirectional cavopulmonary shunt (BDCPS) and modified Fontan procedure in an attempt to define factors influencing operative mortality and morbidity. RESULTS: Multivariate analysis of 64 patients undergoing BDCPS revealed that age 6 months or less, concomitant operation, mean pulmonary pressure of 15 mm Hg or less, and mean pulmonary artery ratio of 1.8:1 or less were not statistically significant indicators of risk. Abnormal pulmonary artery architecture was a significant predictor of early and late death (p < or = 0.01). Retrospective analysis of 71 patients undergoing the modified Fontan procedure revealed no significant relationship between duration of pleural effusions and age at operation, preoperative oxygen saturation, pulmonary artery pressure, ventricular end-diastolic pressure, or prior BDCPS: Patients with important aortopulmonary collateral vessels defined by angiography had prolonged pleural drainage. Selective use of the total extracardiac conduit and the fenestrated Fontan resulted in low overall mortality with no statistical differences between subsets of patients undergoing different modifications of the Fontan procedure. CONCLUSIONS: These data indicate that the operative risk for BDCPS or modified Fontan procedure is quite low if a procedure appropriate for the patient is selected. Abnormal pulmonary artery architecture is an important risk factor for death after the BDCPS: Aortopulmonary collateral vessels are associated with fluid retention and pleural effusions after a modified Fontan procedure. Important aortopulmonary collateral vessels should be occluded before or during the modified Fontan procedure.

Changing practice patterns for children with heart disease: a clinical pathway approach.

BACKGROUND: Pediatric cardiac care is costly and requires extensive resources. We studied the effect of clinical pathways on practice patterns and patient care outcomes in infants and children hospitalized for cardiac surgery. METHODS: In consecutive patients admitted for selected cardiac surgical procedures before (n = 69) and after (n = 173) implementation of clinical pathways, outcomes including hospital length of stay, days in the ICU, time to extubation, ordering of blood studies, costs, and readmissions were compared. Data were analyzed for each of five cardiac surgical procedures: repair of an atrial septal defect, repair of a ventricular septal defect, division of a patent ductus arteriosus, repair of tetralogy of Fallot, and neonatal arterial switch operation to correct transposition of the great arteries. RESULTS: A significant reduction in length of hospital stay, including days in the ICU (decreased 1 to 2 days per admission), was achieved after the clinical pathway was implemented. Reductions in average duration of mechanical ventilation ranged from 28% for repair of a ventricular septal defect to 63% for repair of tetralogy of Fallot. The number of blood studies ordered decreased 20% to 30%. A significant reduction in hospital costs for each procedure, ranging from 16% to 29%, was also achieved with no adverse effects on patients' outcomes. CONCLUSIONS: Use of clinical pathways with children hospitalized for cardiac surgery can shorten length of stay in the hospital, reduce use of resources, and improve cost-effectiveness with beneficial outcomes for patients.

Health education needs of adolescents with congenital heart disease.

Self-concept, health beliefs, health behaviors, health information sources, and perceived health information needs were assessed in 90 patients with congenital heart disease and 54 peers without chronic illness, ages 13 to 22 years. Data revealed that patients with congenital heart disease did not differ from their healthy counterparts in overall self-concept, health beliefs, use of preventive health services, and sources of health information. Patients with congenital heart disease reported greater perceived stress in comparison to peers. Significantly more patients with heart disease needed information regarding pregnancy and contraception, and older cardiac subjects were less likely to be sexually active. For these patients who currently seem to rely largely on peers for some critical health information, sensitive and comprehensive counseling by health professionals is imperative.

The pediatric nurse practitioner as case manager in the delivery of services to children with heart disease.

Today's health care environment prompted implementation of a case management model by pediatric nurse practitioner clinical nurse specialists to promote the organization of resources for optimal care of children with heart disease. Evaluation of this pilot program suggests that achievement of expected outcomes within an appropriate length of stay was facilitated, that parents were ready for discharge, and that readmissions were infrequent. In addition, patient and system variances resulting in delay of discharge and discharge preparation needs were identified. The pediatric nurse practitioner as case manager may have a significant impact on the quality and cost of care for hospitalized children.

Caring for families of pediatric transplant recipients: psychosocial implications.

Organ transplantation is allowing the hope for survival and an improved quality of life to become a reality for many children with end-stage diseases. Most pediatric transplant recipients are active and able to participate in age-appropriate activities. Despite dramatic symptomatic improvements, however, children and families continue to face major psychosocial stresses. Family stresses are related to the uncertainty of the child's future health and well-being, role strain, social isolation, and financial burdens. Pediatric transplant recipients may have difficulties with psychosocial adjustment, especially related to dissatisfaction with the cosmetic side effects of immunosuppressive therapy and a lack of socialization skills or social competence. Psychosocial stresses faced by children following transplant may result in behavior problems, depression, poorer social adaptation, or noncompliance. The psychosocial adaptation of pediatric transplant recipients can be promoted through support and counseling from health professionals caring for these families. More research is needed to evaluate the psychosocial implications of pediatric organ transplantation and identify effective methods of providing psychological support and promoting adaptation in these children.

Family stress after pediatric heart transplantation.

Parents of ten children who underwent cardiac transplantation at the authors' institution participated in this study to evaluate the effect of heart transplantation on the family. Parents completed the Hymovich Chronicity Impact and Coping Instrument (CICI) and/or the Feetham Family Function Survey (FFFS) 3 to 24 months (mean, 8.4 months) after the transplant. Results indicate that parents face significant psychological and social stresses after their child's heart transplantation related to (1) the uncertainty of the child's future health and well-being, (2) role strain, (3) social isolation, and (4) financial burdens. Recommendations for nursing practice are suggested.

Therapeutic cardiac catheterization for congenital heart disease--a new era in pediatric care.

In recent years, enormous technological advances have occurred that allow intervention for many congenital heart defects in the pediatric cardiac catheterization laboratory. Therapeutic catheterization procedures, including valvuloplasty, angioplasty, stent implantation, coil embolization, and device occlusion, are employed to treat heart defects in infants and children. This report describes these interventional procedures, outcomes, potential complications, and implications for nursing care.

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.

PIP: Congenital heart disease impedes developmental tasks associated with adolescence. Thus nurses need to conduct sensitive counseling with adolescents with congenital heart disease. These adolescents see themselves as different and embrace attitudes and behaviors of peers even when some behaviors pose likely health risks. To gain control over their lives and be able to make decisions, they must be familiar with their cardiac condition and complete health care needs. They also view their physical condition as worse than medically indicated. Nurses should counsel each student about sports participation based on an individual basis. Adolescents who have undergone successful cardiac repair for ventricular septal defect, atrial septal defect secundum, endocardial cushion defect (incomplete), and patent ductus arteriosus can participate in competitive sports. Adolescents tend to fear sexual arousal because the heart rate and blood pressure increase. Yet they tend to be as sexually active as their healthy peers. Most people with mild, unoperated heart disease or successfully repaired defects are likely to have a normal pregnancy and a healthy infant. The IUD is contraindicated. Oral contraceptives (OCs) tend to be safe especially progestin-only OCs. Nurses should recommend barrier methods for conscientious users and sexual abstinence. The likelihood of a parent with congenital heart disease having a child with the same disease is higher than the general population, but it still is small. Genetic counseling must also include warnings about the effect of some cardiovascular medications on the developing fetus. Adolescents need vocational guidance to encourage them to pursue careers they want and steer them away from careers that are potentially harmful. Nurses should assess their feelings toward drugs and alcohol to help them choose not to use these substances. They should determine the quality of support systems available to adolescents with heart disease, recognize social concerns, and reinforce positive coping responses.